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Sample records for cap alpha thalassemia

  1. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cooley's Anemia Foundation: Fact sheet about alpha thalassemia Disease InfoSearch: Alpha-Thalassemia Genomics Education Programme (UK) Information Center for Sickle Cell and ...

  2. Alpha-globin loci in homozygous beta-thalassemia intermedia.

    Science.gov (United States)

    Triadou, P; Lapoumeroulie, C; Girot, R; Labie, D

    1983-01-01

    Homozygous beta-thalassemia intermediate (TI) differs from thalassemia major (TM) in being less severe clinically. Associated alpha-thalassemia could account for the TI phenotype by reducing the alpha/non-alpha chain imbalance. We have analyzed the alpha loci of 9 TI and 11 TM patients by restriction endonuclease mapping. All the TM and 7 of the TI patients have the normal complement of four alpha-globin genes (alpha alpha/alpha alpha). One TI patient has three alpha-globin genes (alpha alpha/-alpha), and another TI patient has five alpha genes (alpha alpha/alpha alpha alpha). PMID:6305827

  3. Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease.

    OpenAIRE

    Noguchi, C T; Dover, G J; Rodgers, G P; Serjeant, G R; Antonarakis, S E; Anagnou, N P; Higgs, D R; Weatherall, D J; Schechter, A N

    1985-01-01

    Homozygous alpha-thalassemia has the beneficial effect in sickle cell anemia of reducing the hemolytic severity while changing several other hematological parameters. We examined in detail the cellular basis of some of these hematologic alterations. We find that the broad distribution in erythrocyte density and the large proportion of dense cells associated with sickle cell anemia are both reduced with coexisting alpha-thalassemia. Measurements of glycosylated hemoglobin levels as a function ...

  4. Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

    Science.gov (United States)

    ... intellectual disability syndrome alpha thalassemia X-linked intellectual disability syndrome Enable Javascript to view the expand/collapse ... Close All Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many ...

  5. Elucidating the spectrum of alpha-thalassemia mutations in Iran.

    Science.gov (United States)

    Hadavi, Valeh; Taromchi, Amir Hossein; Malekpour, Mahdi; Gholami, Behjat; Law, Hai-Yang; Almadani, Navid; Afroozan, Fariba; Sahebjam, Farhad; Pajouh, Parisa; Kariminejad, Roxana; Kariminejad, Mohammad Hassan; Azarkeivan, Azita; Jafroodi, Maryam; Tamaddoni, Ahmad; Puehringer, Helene; Oberkanins, Christian; Najmabadi, Hossein

    2007-07-01

    Alpha thalassemia (alpha-thal) is one of the most common hemoglobin (Hb) disorders in the world. Alpha-globin genes are located on chromosome 16. The majority of alpha-thal mutations are deletions but point mutations are found as well. Since the Iranian population is a mixture of different ethnic groups, frequency and distribution of alpha-globin mutations in various regions of the country need to be clarified. These findings can contribute to a wider understanding of this disorder. PMID:17606454

  6. Alpha-thalassemia mutations in Gilan Province, North Iran.

    Science.gov (United States)

    Hadavi, Valeh; Jafroodi, Maryam; Hafezi-Nejad, Nima; Moghadam, Sousan Dehnadi; Eskandari, Fatemeh; Tarashohi, Shahin; Pourfahim, Hamideh; Oberkanins, Christian; Law, Hai-Yang; Najmabadi, Hossein

    2009-01-01

    One hundred and three patients from Gilan Province, Iran, presenting with hypochromic and microcytic anemia parameters without iron deficiency were included in this study. Using gap-polymerase chain reaction (gap-PCR), reverse hybridization StripAssay and DNA sequencing, we detected a total of 113 alpha-globin mutations in 94 (91.3%) of these patients. Most prevalent of the 16 different alpha-thalassemia (alpha-thal) alleles was -alpha(3.7) (42.5%), followed by the polyadenylation signal (poly A2) (AATAAA>AATGAA) (12.4%), Hb Constant Spring [Hb CS, alpha142, Term-->Gln (TAA>CAA in alpha2] (10.6%), --(MED) (8.8%), IVS-I donor site [GAG GTG AGG>GAG G-----, alpha(-5 nt) (-TGAGG)] (7.1%), -alpha(4.2) (4.4%) and poly A1 (AATAAA>AATAAG) (3.5%). An additional nine mutations were observed at frequencies below 2%. We also found two novel alpha1 gene mutations: alpha(-9) (HBA1: c.-9 G>C) and alpha(IVS-I-4) (HBA1: c.95+4 A>G). Our new findings will be valuable for improving targeted thalassemia screening and prevention strategies in this area. PMID:19657838

  7. The interaction of alpha-thalassemia and homozygous sickle-cell disease.

    Science.gov (United States)

    Higgs, D R; Aldridge, B E; Lamb, J; Clegg, J B; Weatherall, D J; Hayes, R J; Grandison, Y; Lowrie, Y; Mason, K P; Serjeant, B E; Serjeant, G R

    1982-06-17

    Patients with homozygous sickle-cell disease may be homozygous for alpha-thalassemia 2 (alpha-/alpha-), may be heterozygous for alpha-thalassemia 2 (alpha-/alpha alpha), or may have a normal alpha-globin-gene complement (alpha alpha/alpha alpha). We compared the clinical and hematologic features of 44 patients who had sickle-cell disease and homozygous alpha-thalassemia 2 with those of controls with the two hematologic conditions. The patients with homozygous alpha-thalassemia 2 had significantly higher red-cell counts and levels of hemoglobin and hemoglobin A2, as well as significantly lower hemoglobin F, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, reticulocyte counts, irreversibly-sickled cell counts, and serum total bilirubin levels, than those with a normal alpha-globin-gene complement. Heterozygotes (alpha-/alpha alpha) had intermediate values. In the group with homozygous alpha-thalassemia 2, fewer patients had episodes of acute chest syndrome and chronic leg ulceration and more patients had splenomegaly, as compared with patients in other two subgroups. These data confirm previous suggestions that alpha-thalassemia inhibits in vivo sickling in homozygous sickle-cell disease and may be an important genetic determinant of its hematologic severity. PMID:6176865

  8. alpha-Thalassemia mutation analyses in Mazandaran province, North Iran.

    Science.gov (United States)

    Tamaddoni, Ahmad; Hadavi, Valeh; Nejad, Nima Hafezi; Khosh-Ain, Atefeh; Siami, Rita; Aghai-Meibodi, Jalil; Almadani, Navid; Oberkanins, Christian; Law, Hai-Yang; Najmabadi, Hossein

    2009-01-01

    Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for alpha-thalassemia (alpha-thal) mutation screening. We detected a total of 274 alpha-globin mutations in 227 (89%) of these patients. Among the 21 different alpha-globin alleles found, the -alpha(3.7) (44.9%), polyadenylation signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -alpha(4.2) (9.1%), alpha(IVS-I(-5 nt)) (6.5%), - -(MED) (4.3%), and alpha(codon 19 (-G)) (4%) were the most frequent. The other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bleuland [alpha108(G15)ThrAsn, ACC>AAC (alpha2)], as well as a novel mutation on the alpha2 gene, also not described to date [3 ' untranslated region (3 'UTR) nucleotide (nt) 46 (C>A)]. These comprehensive new data are useful for establishing a screening strategy for the effective control of alpha-thal in Mazandaran Province. PMID:19373587

  9. alpha-thalassemia mutations in Khuzestan Province, Southwest Iran.

    Science.gov (United States)

    Zandian, Khodamorad; Nateghi, Jamal; Keikhaie, Bijan; Pedram, Mohammad; Hafezi-Nejad, Nima; Hadavi, Valeh; Oberkanins, Christian; Azarkeivan, Azita; Law, Hai-Yang; Najmabadi, Hossein

    2008-01-01

    Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan Province, Iran, were initially tested for the three most common Iranian alpha-thal mutations (- alpha3.7, -alpha4.2, and --MED) by gap-polymerase chain reaction (gap-PCR). Reverse hybridization test strips and DNA sequencing were used to identify additional alpha-globin mutations. A total of 131 mutated alpha-globin alleles were identified in these patients. Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations. On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region. PMID:19065332

  10. Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran.

    Science.gov (United States)

    Mahdavi, Mohammad Reza; Bayat, Nooshin; Hadavi, Valeh; Karami, Hosein; Roshan, Payam; Najmabadi, Hossein; Rohanizadeh, Hamed

    2012-04-01

    We report of an Iranian family with history of a rare haemoglobin variant, Haemoglobin J associated with alpha thalassemia, discovered while performing premarital thalassemia screening. In the present study we report the first case of haemoglobin J-Toronto [alpha 5 (A3) Ala > Asp] on -globin gene, found in a 16-year-old female from Mazandaran Province, North of Iran. Further investigation characterized the same mutation for mother and brother of the proband, whilst mother was also a carrier of an alpha thalassemia gene mutation (-alpha3.7). Haemoglobin J-Toronto was previously just reported from Canada and has not been found in any part of Iran. PMID:22755290

  11. Concurrent sickle cell anemia and alpha-thalassemia. Effect on pathological properties of sickle erythrocytes.

    OpenAIRE

    Embury, S H; Clark, M R; Monroy, G; Mohandas, N

    1984-01-01

    The concurrence of sickle cell anemia and alpha-thalassemia results in less severe hemolytic anemia apparently as a result of reduced intraerythrocytic concentration of hemoglobin S and its retarded polymerization. We have evaluated the effect of alpha-globin gene number on several interrelated properties of sickle erythrocytes (RBC) that are expected to correlate with the hemolytic and rheologic consequences of sickle cell disease. The irreversibly sickled cell number, proportion of very den...

  12. MFTF-. cap alpha. + T progress report

    Energy Technology Data Exchange (ETDEWEB)

    Nelson, W.D. (ed.)

    1985-04-01

    Early in FY 1983, several upgrades of the Mirror Fusion Test Facility (MFTF-B) at Lawrence Livermore National Laboratory (LLNL) were proposed to the fusion community. The one most favorably received was designated MFTF-..cap alpha..+T. The engineering design of this device, guided by LLNL, has been a principal activity of the Fusion Engineering Design Center during FY 1983. This interim progress report represents a snapshot of the device design, which was begun in FY 1983 and will continue for several years. The report is organized as a complete design description. Because it is an interim report, some parts are incomplete; they will be supplied as the design study proceeds. As described in this report, MFTF-..cap alpha..+T uses existing facilities, many MFTF-B components, and a number of innovations to improve on the physics parameters of MFTF-B. It burns deuterium-tritium and has a central-cell Q of 2, a wall loading GAMMA/sub n/ of 2 MW/m/sup 2/ (with a central-cell insert module), and an availability of 10%. The machine is fully shielded, allows hands-on maintenance of components outside the vacuum vessel 24 h after shutdown, and has provisions for repair of all operating components.

  13. cap alpha. -skeletal and. cap alpha. -cardiac actin genes are coexpressed in adult human skeletal muscle and heart

    Energy Technology Data Exchange (ETDEWEB)

    Gunning, P.; Ponte, P.; Blau, H.; Kedes, L.

    1983-11-01

    The authors determined the actin isotypes encoded by 30 actin cDNA clones previously isolated from an adult human muscle cDNA library. Using 3' untranslated region probes, derived from ..cap alpha.. skeletal, ..beta..- and ..gamma..-actin cDNAs and from an ..cap alpha..-cardiac actin genomic clone, they showed that 28 of the cDNAs correspond to ..cap alpha..-skeletal actin transcripts. Unexpectedly, however, the remaining two cDNA clones proved to derive from ..cap alpha..-cardiac actin mRNA. Sequence analysis confirmed that the two skeletal muscle ..cap alpha..-cardiac actin cDNAs are derived from transcripts of the cloned ..cap alpha..-cardiac actin gene. Comparison of total actin mRNA levels in adult skeletal muscle and adult heart revealed that the steady-state levels in skeletal muscle are about twofold greater, per microgram of total cellular RNA, than those in heart. Thus, in skeletal muscle and in heart, both of the sarcomeric actin mRNA isotypes are quite abundant transcripts. They conclude that ..cap alpha..-skeletal and ..cap alpha..-cardiac actin genes are coexpressed as an actin pair in human adult striated muscles. Since the smooth-muscle actins (aortic and stomach) and the cytoplasmic actins (..beta.. and ..gamma..) are known to be coexpressed in smooth muscle and nonmuscle cells, respectively, they postulate that coexpression of actin pairs may be a common feature of mammalian actin gene expression in all tissues.

  14. The effect of alpha-thalassemia on cord blood red cell indices and interaction with sickle cell gene

    International Nuclear Information System (INIS)

    Alpha-thalassemia is known to be prevalent in the Eastern region of Saudi Arabia. There are no large scale reports regarding the effect of alpha-thalassemia on red cell indices of cord blood from Saudi Arabia. Similarly, there are reports regarding the interaction of alpha-thalassemia and the sickle-cell gene in relation to red cell indices in cord blood. To address these issues, we undertook a study on neonatal cold blood samples. In a prospective study, cord blood samples from 504 neonates from the Qatif area of the Eastern Province of Saudi Arabia were analyzed for complete blood counts (CBC) and cellulose acetate Hb electrophoresis. Hb S was confirmed by citrate agar Hb electrophoresis. There were 243 case samples with normal Hb electrophoresis (Hb A 27.2+- 7% and Hb F 72.6+-7.7%). Their mean Hb (g/dL), RBC (x10/L), Hct (%), MCV (pg), MCHC (g/dL), RDW-SD (fl) and RDW-CV (%) were 15.05+-1.6, 4.5+-0.5, 47.4+-5.3, 106+-8, 33.6+-2.3, 31.8+-1.7, 69.2+-9.5 and 17.9+-1.7, respectively. There were 136 cases with alpha-thalassemia trait (alphaTT), 57 cases with sickle cell trait (SCT) and 50 cases of sickle cell trait with alplha-thalassemia trait (SCT/ alphaTT). There were ten cases of Hb H disease (6 definite), including one with sickle cell disease (SCD) and two with SCT, Hb Bart's 23.9%-43.6%; four probable with Hb Bart's 10.9%-16.1% and one with SCT. The effect on red cell parameters in Hb H disease were most pronounced. In addition, there seven cases of SCD, four of whom had coexistent alpha-thalassemia trait (SCD/alphaTT). The prevalence of alpha-thalassemia in this cohort of Saudi population was 39.99%. Hb H disease appeared as common as SCD. Sickle cell gene was seen in 23.4% of neonatal samples. Apha-thalassemia gene significantly reduces MCH, MCV, RDW-SD, Hct, Hb and increase RBC count in both normal or sickle cell trait neonates. Generally, the variation of red cell parameters is directly proportional to the amount of Hb Bart's in the cord blood. Sickle cell

  15. [Importance of the molecular diagnosis in the screening of alpha-thalassemia].

    Science.gov (United States)

    Dell'Edera, Domenico; Malvasi, Antonio; Tinelli, Andrea; Mazzone, Eleonora; Leo, Manuela; Monti, Vito; Epifania, Annunziata Anna

    2011-01-01

    The term alpha thalassemia refers to inherited disorders of hemoglobin caused by reduced or absent synthesis of alpha globin chains. This paper highlights that in the presence of a alfa2-Tal (-α/αα), called the silent, the biochemical diagnosis turns out to be insufficient. In these cases, the molecular study of alpha-globin genes is necessary for identification. In reason of this we present the following case report. A woman of 29 years, pregnant at 12(a) weeks, arrived at our observation to undergo prenatal screening test for Down and Edwards syndromes (bitest). The medical history of the couple revealed that both had doubts haematological indices: Mr. T.G. had a biochemical framework related to alpha1-Tal (MCV 58.8fl, MCH 19.8pg, HbA2: 1.9, HbF:0.4, erythrocytes 6.58x10(6)/ul ed Hb 13g/dl), which was confirmed by molecular analysis (genotype alfa(0-20.5Kb)). Particular difficulties of interpretation presented the C.F. patient who had a biochemical phenotype border line (MCV 79.8fl, MCH 27.2pg, HbA2: 2.9, HbF: 0.6, erythrocytes 5.11x10(6)/ul, Hb 12.8 g/dl). Only molecular analysis has found with certainty that Mrs. C.F. appeared to be phenotypically alpha2-TAL (-α/αα) for the presence of the mutation "alfa2 init.Cd(T>C) NcoI". In the event, as in our case, there is a couple where one spouse is alpha2-TAL (-α/αα) and the other alpha1-TAL (--/αα), must have to inform the couple about the possibility of conceiving a child with hemoglobin H (HbH). Far from the authors refer to the idea of prenatal diagnosis for couples at risk to bear children with HbH, but it is worth highlighting the importance of a careful study of the blood parameters and an extensive and precise information about the clinical implications related to complications of alpha thalassemia. PMID:21779123

  16. HB KURDISTAN [ALPHA-47(CE5)ASP-]TYR], A NEW ALPHA-CHAIN VARIANT IN COMBINATION WITH BETA-THALASSEMIA

    NARCIS (Netherlands)

    GIORDANO, PC; HARTEVELD, CL; STRENG, H; Oosterwijk, Jan; HEISTER, JGAM; AMONS, R; BERNINI, LF

    1994-01-01

    We have characterized the structural abnormality of a new alpha chain mutant found in a Kurdish; family. The clinical and hematological investigation of eight individuals have shown that the a variant is associated with a beta degrees-thalassemia mutation (nonsense codon 39). The tryptic peptide map

  17. Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S.

    Science.gov (United States)

    Codrington, J F; Codrington, F A; Wisse, J H; Wilson, J B; Webber, B B; Wong, S C; Huisman, T H

    1989-01-01

    Three different hemoglobinopathies, i.e. Hb S, Hb Chad [alpha 23 (B4)Glu----Lys], and alpha-thalassemia-2 (-3.7) have been observed in eight members of a family from Surinam. The proposita had all three abnormalities, while her mother and four of her half-brothers had Hb Chad together with an alpha-thalassemia-2 heterozygosity or homozygosity. Gene mapping and dot-blot analysis of amplified DNA identified a G----A mutation in codon 23 of the alpha 2 alpha 1 hybrid gene resulting in the Glu----Lys substitution. The quantity of the alpha-Chad chain averaged 31.5% in its carriers with an additional alpha-thalassemia-2 heterozygosity [-alpha Chad(-3.7 kb)/alpha alpha], and 43% in the two carriers with an additional alpha-thalassemia-2 homozygosity [-alpha Chad (-3.7 kb)/-alpha (3.7 kb)]. These quantities are considerably higher than those reported for families from Chad, China, and Japan; the low levels of 14.5-24% Hb Chad in members of previously reported cases suggest a mutation on a chromosome with two alpha-globin genes [alpha alpha Chad/alpha alpha or alpha Chad alpha/alpha alpha]. PMID:2606723

  18. Dificuldades na identificação laboratorial da talassemia alfa Difficulty on laboratory identification of alpha thalassemia

    Directory of Open Access Journals (Sweden)

    Karlla Greick Batista Dias-Penna

    2010-04-01

    Full Text Available Introdução: Talassemia alfa é uma síndrome associada à redução da síntese de cadeias de globina do tipo alfa. A gravidade das manifestações clínicas está relacionada com a quantidade de globinas produzida e a estabilidade das cadeias beta presentes em excesso. A talassemia alfa mínima resulta da deleção de apenas um dos quatro genes a (-α/αα. Clinicamente apresenta anemia leve com microcitose ou ausência de anemia, sendo o diagnóstico realizado por meio de visualização da hemoglobina (Hb H por eletroforese alcalina em acetato de celulose ou por identificação de inclusões celulares de Hb H coradas pelo azul de crezil brilhante. Objetivo: Avaliar portadores de talassemia alfa e seus respectivos progenitores, correlacionando perfil hematológico e presença de Hb H, utilizando procedimentos laboratoriais clássicos em três diferentes amostragens. Discussão e conclusão: Os dados obtidos mostram que a presença de Hb H, indicativo de talassemia alfa, pode não ser confirmada em uma análise posterior. Entre os fatores que podem influenciar no não aparecimento de Hb H em pessoa comprovadamente com talassemia alfa está a deficiência de ferro. A talassemia alfa está associada a defeitos envolvendo os genes codificadores da cadeia alfa, mas também pode estar relacionada com desbalanciamento temporário na expressão dos genes globina, diminuição de alfa ou aumento de beta, o que poderia explicar o aparecimento de tetrâmeros de cadeia beta (Hb H, sugerindo diagnóstico de talassemia alfa mínima.Introduction: Alpha thalassemia is a syndrome with associated with the reduction of alpha globin chain synthesis. The severity of clinical manifestations is related to the amount of globins produced and the stability of beta chains that are present in excess. Alpha thalassemia minor is caused by the deletion of one of the four genes a (-α/αα. Clinically, it presents mild anemia with microcytosis or absence of anemia. The

  19. Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.

    OpenAIRE

    Honig, G R; M. Shamsuddin; Vida, L N; Mompoint, M; Valcourt, E; Bowie, L J; Jones, E. C.; Powers, P A; Spritz, R A; Guis, M

    1984-01-01

    A new hematologic syndrome with phenotypic features of mild Hb H disease was identified in three children from two unrelated black American families. Erythrocytes from each of these children contained Hb H (beta 4) and Hb Barts (gamma 4), as well as a slowly migrating hemoglobin fraction that made up 7-10% of the total hemoglobin. The parents of the affected children all showed mild thalassemia-like changes, with one of the parents in each family also expressing the variant hemoglobin; in the...

  20. Alpha-human atrial natriuretic polypeptide (. cap alpha. -hANP) specific binding sites in bovine adrenal gland

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, K.; Nawata, H.; Kato, K.I.; Ibayashi, H.; Matsuo, H.

    1986-06-13

    The effects of synthetic ..cap alpha..-human atrial natriuretic polypeptide (..cap alpha..-hANP) on steroidogenesis in bovine adrenocortical cells in primary monolayer culture were investigated. ..cap alpha..-hANP did not inhibit basal aldosterone secretion. ..cap alpha..-hANP induced a significant dose-dependent inhibition of basal levels of cortisol and dehydroepiandrosterone (DHEA) secretion and also of aCTH (10/sup -8/M)-stimulated increases in aldosterone, cortisol and DHEA secretion. Visualization of (/sup 125/I) ..cap alpha..-hANP binding sites in bovine adrenal gland by an in vitro autoradiographic technique demonstrated that these sites were highly localized in the adrenal cortex, especially the zona glomerulosa. These results suggest that the adrenal cortex may be a target organ for direct receptor-mediated actions of ..cap alpha..-hANP.

  1. Hemoglobinas AS/alfa talassemia: importância diagnóstica Hemoglobins AS/alpha thalassemia: diagnostic importance

    Directory of Open Access Journals (Sweden)

    Renata Tomé-Alves

    2000-12-01

    , the Sickle Cell beta Thalassemia syndromes, and Hemoglobinopathies in which hemoglobin S is in association with another abnormal hemoglobin, such as hemoglobin S/C. The Sickle Cell trait (hemoglobin AS associated with Alpha Thalassemia presents alterations in the red blood cells morphology, usually absent in the heterozygous for this hemoglobin variant. The interaction between hemoglobin S and alpha Thalassemia has been described as one of the factors responsible for the improvement in the clinical picture of homozygous of hemoglobin S (Sickle Cell Anemia, decreasing the number of episodes of pain. The genetic mechanisms of this influence are evaluated using molecular analyses of the human globin genes. With the objective of verifying the presence of alpha Thalassemia in heterozygous of hemoglobin S, with anemia, sent to the Laboratory of Hemoglobins, Department of Biology, UNESP, São José do Rio Preto, SP, we analyzed 1002 blood samples with Sickle Cell trait, in the period from 1990 to 1998. The samples were picked with EDTA 5% as anticoagulant, after previous authorization of the carriers. Appropriated counseling and management requires definitive diagnosis. For the laboratorial diagnosis the blood samples were submitted to electrophoretic procedures in alkaline and acid pH and cytological evaluation of hemoglobin H. The electrophoretic procedures confirmed the presence of hemoglobin AS. The cytological evaluation evidenced the presence of alpha Thalassemia. Of this total analyzed, 16(1,59% blood samples presented the association between hemoglobin AS and alpha Thalassemia and two individuals belonged of the same family. Our results addressed us to suggest to the routine laboratories, that is important to accomplish the research of alpha Thalassemia among the Sickle Cell trait, with anemia, to verify the interaction with alpha Thalassemia, supplying to the carriers a important information on its hematological profile, genetic pattern of hemoglobinopathies and the

  2. Study of /sup 3/H+. cap alpha. and /sup 3/He+. cap alpha. elastic scattering in a state with zero orbital angular momentum

    Energy Technology Data Exchange (ETDEWEB)

    Chopovskii, L. L.

    1988-12-01

    An asymptotic wave function of the relative motion of clusters at zero interaction energy is derived in the oscillator representation. The set of equations of the algebraic version of the resonating-group method (RGM) is transformed to the zero-energy limit of the relative cluster motion. The /sup 3/H+..cap alpha.. and /sup 3/He+..cap alpha.. scattering lengths are calculated in the single-channel RGM variant on the basis of the derived equations. The possibility of experimentally observing large scattering lengths for light charged clusters is predicted, viz., /similar to/10--23 F in the /sup 3/H+..cap alpha.. channel and /similar to/30--82 F in the /sup 3/He+..cap alpha.. channel.

  3. Elevated Middle Cerebral Artery Peak Systolic Velocity in a Nonanemic Fetus with Alpha-Thalassemia Trait

    OpenAIRE

    Kent Heyborne

    2009-01-01

    Background. Elevated middle cerebral artery peak systolic velocity (MCA-PSV) has been reported in nonanemic fetuses following fetal transfusion, and has been attributed to a major population of red blood cells (RBCs) with an adult mean corpuscular volume (MCV) in the fetal circulation. Reported here is an analogous case of elevated MCA-PSV with a normal fetal hematocrit and relative fetal microcytosis due to fetal α-thalassemia trait. Case. Ultrasound findings concerning for early hydrops pro...

  4. Membrane transfer of. cap alpha. -tocopherol: influence of soluble. cap alpha. -tocopherol-binding factors from the liver, lung, heart and brain of the rat

    Energy Technology Data Exchange (ETDEWEB)

    Murphy, D.J.; Mavis, R.D.

    1981-10-25

    The pH of liver supernatant was lowered from 7.4 to 5.1, which removed 23% of the soluble protein and 97% of the lipid-soluble phosphate, increased the total ..cap alpha..-tocopherol transfer activity 1.3-fold and the specific activity of the transfer rate 1.6-fold. This transfer activity was proportional to time up to 4 min and to protein concentrations up to 0.1 mg/ml. Fractionation of the pH 5.1-treated liver supernatant by gel filtration produced a single peak of ..cap alpha..-tocopherol transfer activity of M/sub r/ = 34,000 and a single peak of ..cap alpha..-tocopherol-binding activity which was coincident with the transfer activity. The transfer rate of this peak of activity was 316 pmol/min/mg of protein, a 9-fold purification over the original untreated supernatant. This ..cap alpha..-tocopherol transfer rate was reduced by 83 and 96% following pronase digestion or heat treatment (80/sup 0/C) of the soluble fraction, respectively, while trypsin digestion reduced the transfer rate only 18% and phospholipase C digestion had no effect. Untreated liver supernatant possessed the peak of binding activity of M/sub r/ = 34,000 and a high molecular weight binding fraction that eluted at the void volume. Heart and brain supernatants also possessed an ..cap alpha..-tocopherol-binding fraction that eluted at the void volume, while lung supernatant lacked binding activity.

  5. Regulatory sequences within DQ. cap alpha. and DQ. beta

    Energy Technology Data Exchange (ETDEWEB)

    Sullivan, K.; Peterlin, B.M.

    1986-03-05

    The Class II Histocompatibility Antigen DQ is characterized by tissue specific expression, relatively late appearance in development and modulation of expression in response to gamma interferon, phorbol 12-myristate 13-acetate (PMA), and prostaglandins of the E series. They have utilized the sensitive reporter function of chloramphenicol acetyl transferase (CAT) in transient expression assays to screen for the presence of regulatory regions within the DQ..cap alpha.. and DQ..beta.. genes. Two regions have been identified which stimulate CAT transcription in transfected cells. One region includes the first intron of DQ..beta.. and the other region brackets the first exon of DQ/sup 2/. These regions are both tissue specific in their stimulation of CAT transcription i.e., both regions stimulate transcription more effectively in a DQ expressing B cell line (BJAB) than in a DQ negative T cell line (Jurkat). Additionally, the CAT plasmids containing the first intron of DQ..beta.. appear to be gamma interferon responsive. Transfection of these plasmids into BJAB followed by treatment of the cells with gamma interferon for 24 hours results in a doubling of the CAT transcription. This increase is analogous to the endogenous DQ response to gamma interferon. These two regions undoubtedly contribute to the complex regulation of DQ expression.

  6. Crystal structure of 2-chloroacetamide (. cap alpha. form): a reinvestigation

    Energy Technology Data Exchange (ETDEWEB)

    Kalyanaraman, B.; Kispert, L.D.; Atwood, J.L.

    1978-01-01

    The crystal structure of the ..cap alpha.. form of 2-chloroacetamide, grown by sublimation, has been determined from three-dimensional counter data and refined by full-matrix least-squares techniques. The crystals belong to the monoclinic space group P2/sub 1//c with a = 10.263(8), b = 5.142(5), c = 7.458(6) A, ..beta.. = 98.72(4)/sup 0/, and D/sub x/ = 1.60 g cm/sup -3/ for Z = 4. The final R factor for 518 observed reflections is 0.037. The molecule exists as a hydrogen-bonded dimer in the crystal structure. The configuration of atoms C(1), C(2), O, and N is planar to within 0.008 A, and the Cl-C(1)-C(2)-O dihedralangle equals 168/sup 0/. The dimeric hydrogen bonding as well as the CH/sub 2/ conformation favors the stabilization of a transient oxygen-centered radical. 3 figures, 3 tables.

  7. Increased concentration of. cap alpha. - and. gamma. -endorphin in post mortem hypothalamic tissue of schizophrenic patients

    Energy Technology Data Exchange (ETDEWEB)

    Wiegant, V.M.; Verhoef, C.J.; Burbach, J.P.H.; de Wied, D.

    1988-01-01

    The concentrations of ..cap alpha..-, ..beta..- and ..gamma..-endorphin were determined by radioimmunoassay in HPLC fractionated extracts of post mortem hypothalamic tissue obtained from schizophrenic patients and controls. The hypothalamic concentration of ..cap alpha..- and ..gamma..-endorphin was significantly higher in patients than in controls. No difference was found in the concentration of ..beta..-endorphin, the putative precursor of ..cap alpha..- and ..gamma..-endorphins. These results suggest a deviant metabolism of ..beta..-endorphin in the brain of schizophrenic patients. Whether this phenomenon is related to the psychopathology, or is a consequence of ante mortem farmacotherapy, remains to be established.

  8. Synthetic. cap alpha. subunit peptide 125-147 of human nicotinic acetylcholine receptor induces antibodies to native receptor

    Energy Technology Data Exchange (ETDEWEB)

    McCormick, D.J.; Griesmann, G.E.; Huang, Z.; Lennon, V.A.

    1986-03-05

    A synthetic peptide corresponding to residues 125-147 of the Torpedo acetylcholine receptor (AChR) ..cap alpha.. subunit proved to be a major antigenic region of the AChR. Rats inoculated with 50 ..mu..g of peptide (T ..cap alpha.. 125-147) developed T cell immunity and antibodies to native AChR and signs of experimental autoimmune myasthenia gravis. They report the synthesis and preliminary testing of a disulfide-looped peptide comprising residues 125-147 of the human AChR ..cap alpha.. subunit. Peptide H ..cap alpha.. 125-147 differs from T ..cap alpha.. 125-147 at residues 139 (Glu for Gln) and 143 (Ser for Thr). In immunoprecipitation assays, antibodies to Torpedo AChR bound /sup 125/I-labelled H..cap alpha.. 125-147 antibody bound H..cap alpha.. 125-147, but monoclonal antibodies to an immunodominant region of native AChR bound neither H..cap alpha.. 125-147 nor T ..cap alpha.. 125-147. Rats immunized with H ..cap alpha.. 125-147 produced anti-mammalian muscle AChR antibodies that induced modulation of AChRs from cultured human myotubes. Thus, region 125-147 of the human AChR ..cap alpha.. subunit is extracellular in muscle, and is both antigenic and immunogenic. It remains to be determined whether or not autoantibodies to this region may in part cause the weakness or myasthenia gravis in man.

  9. Study on Prostaglandin F/sub 2/sub(. cap alpha. ) in photodermatoses

    Energy Technology Data Exchange (ETDEWEB)

    Horkay, I.; Debreczeni, M.; Krajczar, J.; Csongor, J.; Varga, L.; Mann, V.

    1981-09-01

    Prostaglandin F/sub 2/sub(..cap alpha..) (PGF/sub 2/sub(..cap alpha..)) as a possible mediator was studied. Its plasma content was determined by radioimmunoassay. Changes in the DNA synthesis were followed by autoradiography. In active polymorphous light eruption (PLE) and porphyria cutanea tarda (PCT) a remarkable increase (over 300 pg/ml) in plasma content occurred, especially in cases involving large skin areas. Values returned to normal in remission. PGF/sub 2/sub(..cap alpha..) administered i.d., significantly increased the DNA synthesis of the epidermal cells 48 h after injection similar to the effect of three minimal erythema doses of UV-irradiation. This was more pronounced in PLE patients than in controls. These findings suggest some role of PGF/sub 2/sub(..cap alpha..) in producing the inflammatory and perhaps proliferative components of the skin symptoms in PLE. PGF/sub 2/sub(..cap alpha..) - in parallel to literary data concerning PGE - seems to be a mediator of UV-induced changes in DNA synthesis of the epidermal cells.

  10. Neonatal screening for sickle cell disease, Glucose-6-PhosphateDehydrogenase deficiency and Alpha-Thalassemia in Qatif and Al-Hasa

    International Nuclear Information System (INIS)

    Screening programs to determine the frequency of sickle cell,glucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia gene areavailable in Saudi Arabia, although not used frequently. Greater use of theseprograms will decrease the morbidity and mortality of Saudi children affectedby these disorders. Neonatal hemoglobin electrophoresis andglucose-6-dehydrogenase fluorescent spot tests were performed on new bornbabies delivered between December 1992 and December 1993 at the Qatif CentralHospital and at the King Fahd Hospital in Al-Hasa. Cord blood samples werecollected from babies born in these two hospitals. Babies born in otherhospitals had blood collected in their first visit to Qatif primary carecenters at the time of vaccination. All specimens were sent to Dammam CentralLaboratory. The diagnosis of sickle cell and alpha-thalassemia was based oncellulose acetate electrophoresis and confirmed by agar gel electrophoresisand glucose-6-phosphate dehydrgenase was confirmed by fluorescent spot test.A total of 12,220 infants, including 11,313 Saudis (92.6%), were screenedover a 12-month period. The common phenotype detected in these infantsincluded AF, SFA, SFA Bart's, FS and FS Bart's. In Saudi infants, homozygoussickle cell disease was detected in 2.35% and 1.08% in Qatif and Al-Hasa,respectively. The frequencies of sickle cell gene were 0.1545% and 0.1109% inQatif and Al-Hasa. Alpha-thalassemia genes based on an elevated level of HbBart's were 28% and 16.3% in Qatif and Al-Hasa. The screening for G6PDdeficiency revealed a high prevalence of 30.6% and 14.7% in Qatif andAl-Hasa. In the non-Saudi infants the frequencies were low. The outcome ofthis study indicates that the Saudi populations in Qatif and Al-Hasa are atrisk for hemoglobinopathies and G6PD. Neonatal screening programs areessential and cost effective and should be maintained as a routine practice.(author)

  11. Response of neoplastic intestinal vessels to prostaglandin F/sub 2/. cap alpha. : Angiographic observations with emphasis on therapeutic applications

    Energy Technology Data Exchange (ETDEWEB)

    Kusano, S.; Murata, K.; Tominaga, S.; Matsubayashi, T.; Matama, S.; Takahashi, T.

    1983-06-01

    The effects of prostaglandin (PG) F/sub 2/..cap alpha.. in 16 patients with vascular malignant intestinal tumors were analyzed by angiography. It was found that PGF/sub 2/..cap alpha.. reduced tumor vascular flow selectively in all but one patient, a rectal carcinoma case. Among the remaining group, a case of intestinal choriocarcinoma complicated by massive gastrointestinal hemorrhage was successfully controlled with intraarterial infusion of PGF/sub 2/..cap alpha.. into the superior mesenteric artery. Owing to the reduced blood flow in tumors, PGF/sub 2/..cap alpha.. is expected to be used extensively as a vasoconstrictor to control bleeding from tumors of the alimentary tract.

  12. AB035. Thalassemia in Vietnam

    Science.gov (United States)

    Nguyen, Hoang Nam

    2015-01-01

    Thalassemia is a common inherited hemoglobin disorder in Vietnam. The alpha thalassemia, beta thalassemia, and HbE are popular in Vietnam but its variance depends on ethnics. The research for frequency of some ethnics almost in electrophoresis includes: Kinh (beta thalassemia carrier 1.49%, HbE 1.24%), Muong (beta thalassemia carrier 10.7%, HbE 11.7%), Tay (beta thalassemia carrier 11%, HbE 1%). In the recent years, we have conducted researches on thalassemia gene in the Northern and Southern areas of Vietnam. The two researches on beta thalassemia conducted at National Hospital of Pediatrics were Cd17 (33.8%), Cd41/42 (29.4%) following are HbE (19.1%), Cd 71/72 (7.3%), -28 (5.9%), IVS 2-625 (1.5%), IVS 1-5 (1.5%), IVS 1-1 (1.5%). In Vietnam, we have a thalassemia centre at the National Institute of Hematology and Blood Transfusion and several outpatient clinics at National Hospital of Pediatrics, Children No. 1 Hospital, Blood Transfusion and Hematology Hospital Ho Chi Minh city, Central Hue Hospital. In provincial hospitals, we have transfusion service but very variance. That the number of patients with thalassemia requires regular blood transfusion has been increasing results in big shortage of blood supply. At Department of Clinical Hematology-NHP, we provide patients with screening for HIV, HCV and HBV in every 6 months. Patients were done antibody screening test. Deferoxamine, deferiprone and deferasirox are currently used but in short supply. We are facing the difficulty that almost hospitals in Vietnam lack the drug which is unique for each type of chelation. We have to apply ferritin level to follow the chelation effective and MRI to measure iron overload in patients’ liver and heart. We are only able to provide SCT for the modest number of patients with thalassemia. In almost cases, we used sibling donor in SCT for patients with thalassemia. Regarding prevention service, we offer genetic counseling and prenatal diagnosis at three hospitals. We organized

  13. Pressure phase lines and enthalpies for the. cap alpha. -. beta. and. beta. -liquid transitions in beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Abey, A.

    1984-10-31

    The effect of hydrostatic pressure on the ..cap alpha..-..beta.. and ..beta..-liquid transition temperatures in Be was measured in a gas pressure system. Differential thermal analysis was used in the pressure range from 0.1 MPa to 0.7 GPa. For the ..cap alpha..-..beta.. transition, dT/dP = 43 +- 7 K/GPa; for the ..beta..-liquid transition, dT/dP = 35 +- 7 K/GPa. Although it is possible that large systematic errors may arise from experimental procedures, our results are seriously at odds with those of other investigators. Transition enthalpies for the ..cap alpha..-..beta.. and ..beta..-liquid transitions were 1.9 +- 0.2 and 2.2 +- 0.2 kcal/g.m., respectively, at a pressure of 0.1 MPa.

  14. High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

    OpenAIRE

    Tan, Jin-Ai Mary Anne; Lee, Ping-Chin; Wee, Yong-Chui; Tan, Kim-Lian; Mahali, Noor Fadzlin; George, Elizabeth; Chua, Kek-Heng

    2010-01-01

    Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and β-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and β-thalassemia in the Kadazandusuns indicates that thalassemia screening, genetic counseling, and prenatal diagnosis sh...

  15. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

    Science.gov (United States)

    Basehore, M J; Michaelson-Cohen, R; Levy-Lahad, E; Sismani, C; Bird, L M; Friez, M J; Walsh, T; Abidi, F; Holloway, L; Skinner, C; McGee, S; Alexandrou, A; Syrrou, M; Patsalis, P C; Raymond, G; Wang, T; Schwartz, C E; King, M-C; Stevenson, R E

    2015-05-01

    Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inactivation in female carriers. With the advent of next generation sequencing, mutations have been identified that result in less severe phenotypes lacking one or more of these phenotypic manifestations. Here we report five unrelated kindreds in which a c.109C>T (p.R37X) mutation segregates with a variable but overall milder phenotype. The distinctive facial appearance of alpha-thalassemia intellectual disability was present in only one of the 18 affected males evaluated beyond the age of puberty, although suggestive facial appearance was present in several during infancy or early childhood. Although the responsible genetic alteration is a nonsense mutation in exon 2 of ATRX, the phenotype appears to be partially rescued by the production of alternative transcripts and/or other molecular mechanisms. PMID:24805811

  16. Microscopic study of the /sup 14/O(. cap alpha. ,p)/sup 17/F reactions at stellar energies

    Energy Technology Data Exchange (ETDEWEB)

    Funck, C.; Langanke, K.

    1988-03-28

    We have studied the /sup 14/O(..cap alpha..,p)/sup 17/F reaction at astrophysically important energies within a microscopic multichannel calculation based on the framework of the generator coordinate method. Our study gives a consistent description of the /sup 18/Ne states close to the ..cap alpha..-threshold as well as of the direct (..cap alpha..,p) reaction process which has not been considered in previous calculations. We find that the /sup 14/O(..cap alpha..,p)/sup 17/F rate at temperatures T less than or equal to 5x10/sup 8/ K is strongly influenced by the 2/sup +/ resonance at E = 30 keV above the ..cap alpha..-threshold and by the direct reaction cross section. At higher temperatures /sup 18/Ne states not present in our model space become important. We have estimated the influence of these resonances on the /sup 14/O(..cap alpha..,p)/sup 17/F rate within the standard formalism developed by Fowler assigning experimentally unknown spins to the states on the basis of a Thomas-Ehrman shift analysis using theoretical and experimental informations on the respective analogue states in /sup 18/O. We find an /sup 14/O(..cap alpha..,p)/sup 17/F rate which is noticeably higher than the rate estimated by Wiescher et al. for T less than or equal to 5x10/sup 8/ K. Both rates are of the same magnitude for T greater than or equal to 10/sup 9/ K. Our estimate predicts that the /sup 14/O(..cap alpha..,p)/sup 17/F rate is compatible to the /sup 15/O(..cap alpha..,..gamma..)/sup 19/Ne rate under nova conditions. For explosive burning on accreting neutron stars our rate allows for a break-out from the CNO cycle via the /sup 14/O(..cap alpha..,p)/sup 17/F reaction.

  17. Beta Thalassemia

    Science.gov (United States)

    ... South Asian (Indian, Pakistani, etc.), Southeast Asian and Chinese descent. 1 Beta Thalassemia ßß Normal beta globin ... then there is a 25% chance with each pregnancy that their child will inherit two abnormal beta ...

  18. Agonist-promoted desensitization and phosphorylation of. cap alpha. /sub 1/-adrenergic receptors coupled to stimulation of phosphatidylinositol metabolism

    Energy Technology Data Exchange (ETDEWEB)

    Leeb-Lundberg, L.M.F.; Cotecchia, S.; Caron, M.G.; Lefkowitz, R.J.

    1986-03-05

    In the DDT/sub 1/ MF-2 hamster vas deferens smooth muscle cell line the ..cap alpha../sub 1/-adrenergic receptor (..cap alpha../sub 1/-AR) agonist norepinephrine (NE) promotes rapid attenuation of ..cap alpha../sub 1/-AR-mediated phosphatidylinositol (PI) metabolism which is paralleled by rapid phosphorylation of the ..cap alpha../sub 1/-AR. Cells were labeled by incubation with /sup 32/P/sub i/. Coincubation with NE (100 ..mu..M) significantly increases the rate of /sup 32/P-labeling of both PI and phosphatidic acid. Pretreatment of cells with 100 ..mu..M NE (in the presence of 1 ..mu..M propranolol to prevent ..beta..-AR interactions) results in a drastic attenuation of the NE response on PI metabolism. ..cap alpha../sub 1/-AR from labeled cells can be solubilized and purified by affinity chromatography on Affigel-A55414 and wheat germ agglutinin agarose chromatography. SDS-PAGE of purified ..cap alpha../sub 1/-AR shows a NE-promoted increase in phosphorylation of the M/sub r/ 80K ligand binding peptide. Stoichiometry of phosphorylation increases from approx. 1 mol phosphate/mol ..cap alpha../sub 1/-AR in the basal condition to approx. 2.5 after NE treatment. Both desensitization and phosphorylation are rapid being maximal within 10-20 min of agonist exposure. These results together with previous findings that phorbol esters promote rapid ..cap alpha../sub 1/-AR uncoupling and phosphorylation suggest that receptor phosphorylation is an important mechanism of regulation of ..cap alpha../sub 1/-AR receptor responsiveness.

  19. Alpha Thalassemia (For Parents)

    Science.gov (United States)

    ... commonly found in people of African, Middle Eastern, Chinese, Southeast Asian, and, occasionally, Mediterranean descent. Some children ... sampling , which takes place about 11 weeks into pregnancy and involves removing a tiny piece of the ...

  20. Effect of temperature on interatomic distances in pyroelectric. cap alpha. -LiIO/sub 3/

    Energy Technology Data Exchange (ETDEWEB)

    Coquet, E.; Crettez, J.M. (Laboratoire d' Optique du Reseau Cristallin, Faculte des Sciences, Dijon, France); Pannetier, J.; Bouillot, J. (Institut Max von Laue - Paul Langevin, 38 - Grenoble (France)); Damien, J.C. (Lille-1 Univ., 59 - Villeneuve-d' Ascq (France))

    1983-08-01

    The crystal structure of ..cap alpha..-LiIO/sub 3/ (space group P6/sub 3/) has been refined from neutron and X-ray diffraction data at different temperatures between room temperature and 525 K. The Li atom is well located even at temperatures close to the ..cap alpha.. ..-->.. ..gamma.. phase transition and its thermal parameters do not exhibit any anomalous behaviour. The thermal expansion is analysed in terms of IO/sub 3/-group rotations and expansion of LiO/sub 6/ octahedra; the role of the iodine lone pair in the packing of iodate structures is discussed. The spontaneous polarization is calculated on the basis of a simple point-charge model and the calculated pyroelectric coefficient P/sub 3/ is found to be in fair agreement with the experimental value.

  1. Accumulation of glycation products in. cap alpha. -H pig lens crystallin and its bearing to diabetic cataract genesis

    Energy Technology Data Exchange (ETDEWEB)

    Vidal, P.; Cabezas-Cerrato, J.

    1988-01-01

    The incorporation of /sup 11/C-glucose in native pig crystalline by in vitro incubation was found, after subsequent dialysis, to affect all 5 classes of crystallin separated by Sepharose CL-6B column chromatography. Though the radioactivity of the ..cap alpha..-H fraction was three times greater than that of any of the others, autoradiographs of SDS-PAGE gels showed /sup 11/C-glucose adducts to be present in all soluble protein subunits, without there being any evidence of preferential glycation of the ..cap alpha..-H subunits. The concentration of stable glycation products in the ..cap alpha..-H chromatographic fraction of soluble crystallins is suggested to be due the addition of glycated material to this fraction as result of glycation-induced hyperaggregation, and not because the ..cap alpha..-H subunits were especially susceptible to glycation.

  2. Capillary electrophoretic study of thiolated alpha-cyclodextrin-capped gold nanoparticles with tetraalkylammonium ions.

    Science.gov (United States)

    Paau, Man Chin; Lo, Chung Keung; Yang, Xiupei; Choi, Martin M F

    2009-11-27

    Capillary zone electrophoresis (CZE) has been employed to characterize nanometer-sized thiolated alpha-cyclodextrin-capped gold nanoparticles (alpha-CD-S-AuNPs). The addition of tetrabutylammonium (Bu(4)N(+)) ions to the run buffer greatly narrows the migration peak of alpha-CD-S-AuNP. The optimal run buffer was determined to be 10mM Bu(4)N(+) in 30 mM phosphate buffer at pH 12 and an applied voltage of 15 kV. The effect of various tetraalkylammonium ions on the peak width and electrophoretic mobility (mu(e)) of alpha-CD-S-AuNP was studied in detail. Bu(4)N(+) ions assist in inter-linking the alpha-CD-S-AuNPs and narrowing the migration peak in CZE. This observation can be explained by the fact that each Bu(4)N(+) ion can simultaneously interact with several hydrophobic cavities of the surface-attached alpha-CDs on AuNPs. The TEM images show that alpha-CD-S-AuNPs with Bu(4)N(+) are linked together but in the absence of Bu(4)N(+), they are more dispersed. The migration mechanism in CZE is based on the formation of inclusion complexes between Bu(4)N(+) and alpha-CD-S-AuNPs which induces changes in the charge-to-size ratio of alpha-CD-S-AuNPs and mu(e). An inverse linear relationship (r(2)>0.998) exists between the mu(e) and size of alpha-CD-S-AuNPs in the core range 1.4-4.1 nm. The CZE analyses are rapid with migration time less than 4 min. A few nanoliters of each of the alpha-CD-S-AuNP samples were injected hydrodynamically at 0.5 psi for 5s. Our work confirms that CZE is an efficient tool for characterizing the sizes of alpha-CD-S-AuNPs using Bu(4)N(+) ions. PMID:19853853

  3. Comparative analysis of inelastic interactions of protons, deuterons, and. cap alpha. particles with nuclei

    Energy Technology Data Exchange (ETDEWEB)

    Barashenkov, V.S.; Zheregi, F.G.; Musul' manbekov, Z.Z.; Plyushchev, V.A.; Solov' eva, Z.I.

    1981-04-01

    Inelastic interactions of protons, deuterons, and ..cap alpha.. particles with emulsion nuclei at 3.6 Gev/nucleon are analyzed within the framework of the cascade-evaporation model. The model accounts well, within the limits of experimental error, for all the principal characteristics measured in experiment; in particular, it explains why the energy of the g protons emitted into the rear hemisphere is independent of the emission angle of these protons, of the mass of the primary particle, and of the degree of spallation of the target nucleus. Some discrepancy with experiment manifests itself only in the details.

  4. Involvement of prostaglandins F/sub 2. cap alpha. / and E/sub 1/ with rabbit endometrium

    Energy Technology Data Exchange (ETDEWEB)

    Orlicky, D.J.

    1985-01-01

    Several growth factors and hormones are thought to play a role in the growth control of endometrial cells. The authors have shown that prostaglandin F/sub 2..-->../ (PGF/sub 2..cap alpha../) is a growth factor for primary cultures of rabbit endometrium cultured in chemically-defined serum-free medium and that prostaglandin E/sub 1/ (PGE/sub 1/) antagonizes the PGF/sub 2..-->../ induction of growth. Both (/sup 3/H)PGF/sub 2..cap alpha../ and (/sup 3/H)PGE/sub 1/ bind in a time and temperature dependent, dissociable, saturable and specific manner. The binding of (/sup 3/H)PGF/sub 2..cap alpha../ and (/sup 3/H)PGE/sub 1/ can be both down and up regulated and is enzyme sensitive. PGE /sub 1/ stimulates intracellular cAMP synthesis and accumulation in a time and concentration dependent manner. PGF/sub 2..cap alpha../ probably exerts its effects through an amiloride-sensitive intermediate. Both PGF/sub 2..cap alpha../ and PGE/sub 1/ are constitutively synthesized by these primary cultures, and they have shown this synthesis to be both drug and hormone sensitive. They hypothesize that it is the ratio, rather than the absolute quantities, of PGF/sub 2..cap alpha../ and PGE/sub 1/ which is of more importance in the regulation of endometrial cell growth. Furthermore, they believe this regulation of endometrial growth plays a role in control of proliferation during the decidual response and that a derangement in the ratio of these prostaglandins may lead to either infertility or hyperplasia. The ability of these cultures to synthesize prostaglandins in a hormonally regulatable manner may be of importance in the study of dysmenorrhea and uterine cramping as caused by the myometrial contracting prostaglandin, PGF/sub 2..cap alpha../.

  5. Bronquite plástica em criança com talassemia alfa Plastic bronchitis in a child with thalassemia alpha

    Directory of Open Access Journals (Sweden)

    Tiago N. Veras

    2005-12-01

    casts and mucous plugging of the tracheobronchial tree. Given that this illness is part of the differential diagnosis of acute respiratory failure, early treatment is important for improved prognosis. The aim of this report is to describe a case of plastic bronchitis in a child with alpha-thalassemia that was treated successfully with endoscopy. DESCRIPTION: A three year old, black, male child, previously healthy, presented with acute respiratory failure and a chest x-ray showing pulmonary atelectasis. There was no evidence of respiratory symptoms or previous allergy state. The diagnosis of plastic bronchitis was made using flexible and rigid bronchoscopy, and confirmed by histopathologic findings. The child progressed well, treatment was based on supportive care and antibiotics were not used. Ten days after discharge, radiographic appearance was normal. Alpha thalassemia was diagnosed through hemoglobin electrophoresis. COMMENTS: Plastic bronchitis is clinically important because has similar presentation to other prevalent diseases, such as foreign body aspiration and asthma. When plastic bronchitis is suspected, endoscopy is indicated in order to confirm diagnosis and define treatment. Plastic bronchitis has been previously described in patients with cystic fibrosis, cardiac surgery and sickle cell disease. In this case, an association with alpha-thalassemia was observed.

  6. Reaction of HO/sub 2//O/sub 2//sup -/ with. cap alpha. -tocopherol in ethanolic solutions

    Energy Technology Data Exchange (ETDEWEB)

    Arudi, R.L.; Sutherland, M.W.; Bielski, B.H.J.

    1982-01-01

    The HO/sub 2/ perhydroxyl radical reacts with ..cap alpha..-tocopherol in 85% ethanol containing some H/sub 2/SO/sub 4/, EDTA, and O/sub 2/. The resulting transient has a spectral maximum near 390 ..mu... The final product is mostly ..cap alpha..-tocopherylquinone. Best reproducibility for reaction of O/sub 2//sup -/ with ..cap alpha..-tocopherol was obtained in a deoxygenated reaction mixture of 26 +- 3 ..mu..M O/sub 2//sup -/, 0.0565M ..cap alpha..-tocopherol, 5..mu..M EDTA, and 0.005 M KOH in 85% EtOH; the upper limit for the reaction was 6.0 +- 3.0 M/sup -1/ s/sup -1/, indicating that for all practical purposes O/sub 2//sup -/ does not react at all with ..cap alpha..-tocopherol. Preliminary experiments with Trolox, a vitamin E model compound, indicates that it too reacts with HO/sub 2/ but not with O/sub 2//sup -/. Membrane-bound tocopherols in vivo may fulfil a dual antioxidant role. (DLC)

  7. Secondary. cap alpha. -deuterium kinetic isotope effects in solvolyses of ferrocenylmethyl acetate and benzoate in ethanol

    Energy Technology Data Exchange (ETDEWEB)

    Sutic, D. (Univ. of Zagreb, Yugoslavia); Asperger, S.; Borcic, S.

    1982-12-17

    Secondary ..cap alpha..-deuterium kinetic isotope effects (KIE) in solvolyses of ferrocenyldideuteriomethyl acetate and benzoate were determined in 96% (v/v) ethanol, at 25/sup 0/C, as k/sub H//k/sub D/ = 1.24 and 1.26, respectively. The KIEs were also determined in the presence of 0.1 mol dm/sup -3/ lithium perchlorate: the k/sub H//k/ sub D/ values were 1.23 and 1.22 for acetate and benzoate complexes, respectively. The maximum KIE for the C-O bond cleavage of a primary substrate is as large as, or larger than, that of secondary derivatives, which is estimated to be 1.23 per deuterium. The measured KIE of about 12% per D therefore represents a strongly reduced effect relative to its maximum. The solvolyses exhibit ''a special salt effect''. This effect indicates the presence of solvent-separated ion pairs and the return to tight pairs. As the maximum KIE is expected in solvolyses involving transformation of one type of ion pair into another, the strongly reduced ..cap alpha..-D KIE supports the structure involving direct participation of electrons that in the ground state are localized at the iron atom. The alkyl-oxygen cleavage is accompanied by 10-15% acyl-oxygen cleavage.

  8. Removal of. cap alpha. -tocopherol from blood and its comparison with other lipids

    Energy Technology Data Exchange (ETDEWEB)

    Gardner, H.K.; Vang, M.J.; Mavis, R.D.

    1986-01-01

    The blood decay curve of ..cap alpha..-tocopherol in rats was compared with those of the two major blood lipids by labeling rat serum in vitro with /sup 3/H-..cap alpha..-tocopherol (AT), /sup 3/H-cholesterol (CHO) or /sup 3/H-trioleoylglycerol (TO) and injecting it into the bloodstream. For the three lipids, loss from blood was biphasic. The half time of the faster decay was 2-4 minutes. The slower curve decayed with half times of 42, 289 and 990 minutes for TO, AT and CHO, respectively. This intermediate rate of AT removal is consistent with its accompanying both of the major blood lipids as they are removed by their respective mechanisms or with a process specific for AT. To investigate the role of liver in the faster curve, animals were hepatectomized. TO and CHO loss remained biphasic after liver removal. However, AT loss became monophasic, with a loss rate intermediate between the non-hepatectomized fast and slow decays. This demonstrates a central role for liver in the metabolism of blood-borne AT and a mode of removal distinct from the other two lipids.

  9. High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

    Science.gov (United States)

    Tan, Jin-Ai Mary Anne; Lee, Ping-Chin; Wee, Yong-Chui; Tan, Kim-Lian; Mahali, Noor Fadzlin; George, Elizabeth; Chua, Kek-Heng

    2010-01-01

    Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and β-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and β-thalassemia in the Kadazandusuns indicates that thalassemia screening, genetic counseling, and prenatal diagnosis should be included as part of their healthcare system. This preliminary paper serves as a baseline for further investigations into the health and genetic defects of the major indigenous population in Sabah, East Malaysia. PMID:20871816

  10. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

    Science.gov (United States)

    Lee, Jin Sook; Lee, Sangmoon; Lim, Byung Chan; Kim, Ki Joong; Hwang, Yong Seung; Choi, Murim; Chae, Jong-Hee

    2015-09-15

    Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome is a genetic syndrome caused by mutation of the ATRX gene associated with chromatin remodeling. Recently, a wide spectrum of brain MRI abnormalities and clinical manifestations has been recognized. We describe two male patients with genetically confirmed ATRX syndrome, both presented with developmental delay and white matter changes without typical clinical characteristics of ATRX. Whole-exome sequencing revealed the presence of ATRX mutations: a novel c.6472A>G mutation in Case 1 and a previously reported c.6532C>T mutation in Case 2. These two cases expanded the genetic and clinical spectrum of ATRX syndrome, including brain MRI abnormalities. Our results suggest that male patients with developmental delay and widespread white matter changes, even without distinctive facial dysmorphism and hematologic abnormalities, should be suspected as ATRX syndrome. We support the clinical utility of whole-exome sequencing, particularly in ultra-rare neurological diseases with nonspecific developmental disabilities and atypical presentation. PMID:25936994

  11. Homozygous beta zero-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis.

    Science.gov (United States)

    Oggiano, L; Dore, F; Pistidda, P; Guiso, L; Manca, L; Masala, B; Pirastu, M; Rosatelli, C; Cao, A; Longinotti, M

    1988-01-01

    In this study, we investigated the clinical and hematological features and carried out alpha- and beta-globin gene analyses in 11 Sardinian adult beta zero-thalassemia homozygotes from Northern Sardinia who were not transfusion-dependent. Oligonucleotide analysis revealed in nine out of 11 patients the nonsense mutation at codon 39, which was associated either with haplotype II or IX (14/16 and 2/16 chromosomes, respectively). Haplotype II was linked to the A gamma T mutation. The G gamma globin level ranged from 50 to 70%. Four out of nine patients (44%) were heterozygous and 3/9 (33%) homozygous for the rightward deletional type of alpha-thalassemia; two (22%) had the normal alpha-gene complement. Patients who were alpha-thalassemia homozygotes (-alpha/-alpha) showed a more balanced globin chain synthesis ratio. This study confirms that alpha-thalassemia may ameliorate the clinical picture of homozygous beta zero-thalassemia. PMID:2905346

  12. Toxin a from Clostridium difficile binds to rabbit erythrocyte glycolipids with therminal Gal. cap alpha. 1-3Gal. beta. 1-4GlcNaC sequences

    Energy Technology Data Exchange (ETDEWEB)

    Clark, G.F.; Krivan, H.; Wilkins, T.; Smith, D.F.

    1987-05-01

    Toxin A is one of two clostridial toxins implicated as the causative agent of pseudomembranous colitis in patients undergoing postoperative antibiotic therapy. Evidence that the carbohydrate binding determinant for this toxin is a glycoconjugate(s) with non-reducing Gal..cap alpha..1-3Gal..beta..1-4GlcNAc has recently been reported. Specific agglutination of rabbit erythrocytes by Toxin A is inhibited by bovine thyroglobulin and prevented by pretreatment of cells with ..cap alpha..-galactosidase. Total lipid extracts from rabbit erythrocytes were subjected to thin layer chromatography and the chromatogram overlaid with purified /sup 125/I-labeled Toxin A. Two major and several minor toxin-binding glycolipids were detected following autoradiography. The major toxin-binding glycolipids were identified as pentasaccharide- and decasaccharide-ceramides expressing terminal Gal..cap alpha..1-3Gal..beta..1-4GlcNAc sequences. Treatment of the toxin-binding glycolipids with ..cap alpha..-galactosidase abolished binding. Forsmann glycolipid, globoside, Gal..cap alpha..1-4 Gal..beta..1-4Glc-cer, and Gal..cap alpha..1-3Gal..beta..1-4Glc-cer did not bind the toxin. These observations are consistent with the proposed carbohydrate specificity of the toxin for the non-reducing terminal sequence, Gal..cap alpha..1-3Gal..beta..1-4GlcNAc.

  13. Removal of. cap alpha. -tocopherol from blood and its comparison with other lipids: studies of inhibition

    Energy Technology Data Exchange (ETDEWEB)

    Gardner, H.K.; Mavis, R.D.

    1986-05-01

    To investigate the mechanism of ..cap alpha..-tocopherol (AT) uptake into tissues, loss of /sup 3/H-AT from blood was characterized and compared with the losses of two major blood lipids: /sup 3/H-cholesterol (CHO) and /sup 3/H-trioleoylglycerol (TO). Male Long-Evans rats (200-325 gm) were injected with serum labelled with one lipid, and bled from the tail from 1-240 min. In one group heparin (HEP), an inhibitor of lipoprotein lipase which mediates uptake of TO into tissues, was intravenously injected prior to serum and following corn oil gavage. The control group was only gavaged (GAV). A third group was injected with labelled serum which had been incubated with 1,2-cyclohexanedione (CHD), a reagent which modifies the receptors responsible for removal of CHO-rich low density lipoproteins from blood. Labelled serum incubated only with borate buffer (BO) was injected into the fourth group. HEP slowed TO loss from 2-220 min, but left CHO loss unchanged. AT loss was slowed by HEP from 100 min on. That AT responded to HEP but over a time span different from that of TO suggests that AT may be removed by a mechanism distinct from that of TO but sensitive to HEP. CHD slowed CHO loss from 40-240 min while TO and AT loss were uninhibited. This argues against a mechanism of removal common to both AT and CHO.

  14. Kinetics of ozonation. 4. Reactions of ozone with. cap alpha. -tocopherol and oleate and linoleate esters in carbon tetrachloride and in aqueous micellar solvents

    Energy Technology Data Exchange (ETDEWEB)

    Giamalva, D.H.; Church, D.F.; Pryor, W.A.

    1986-10-15

    Vitamin E (..cap alpha..-tocopherol; ..cap alpha..-T) is known to protect animals against the deleterious effects of ozone in polluted air; one such effect is the ozone-initiated autooxidation of polyunsaturated fatty acids (PUFA) that occur in membranes. In order to assess the possibility of a direct reaction of ozone with ..cap alpha..-T competing with the very fast ozone-PUFA reaction, we have measured the rates of reaction of ozone with ..cap alpha..-T, oleic acid, and linoleic acid. I CCl/sub 4/ as solvent, ..cap alpha..-T reacts with ozone with a rate constant of about 5500 M/sup -1/ s/sup -1/; methyl oleate and methyl linoleate react 2 orders of magnitude faster. In aqueous micellar solutions the rate constants for ..cap alpha..-T and the fatty acids are more similar. The k for the ozone/..cap alpha..-T reaction is about 1 x 10/sup 6/ M/sup -1/ s/sup -1/ at pH 7, but decreases as the solution becomes more acidic; the k's for oleic acid and linoleic acid are ca. 1 x 10/sup 6/ M/sup -1/ s/sup -1/ and exhibit no significant pH dependence. Since the ratio of fatty acids to ..cap alpha..-T in membranes is typically at least 100-1000 to 1, we conclude that the direct reaction of ozone with ..cap alpha..-T is unlikely. Thus, the protection that vitamin E provides to animals breathing ozone-containing air must result from vitamin E acting as a free radical scavenger. We have also detected the ..cap alpha..-tocopheroxyl radical as an intermediate from the reaction of ozone with ..cap alpha..-T both in CCl/sub 4/ and aqueous micelles using electron spin resonance spectroscopy. The authors suggest that the observation of this intermediate is consistent with an initial electron transfer from ..cap alpha..-T to ozone.

  15. Mobility parameters for the vacancies and the self-interstitials in concerntrated. cap alpha. -AgZn alloys

    Energy Technology Data Exchange (ETDEWEB)

    Beretz, D.; Hillairet, J.; Halbwachs, M. (CEA Centre d' Etudes Nucleaires de Grenoble, 38 (France). Dept. de Recherche Fondamentale)

    1981-10-01

    Influx relaxation measurements were carried out to monitor the radiation enhanced Zener ordering rate in a Ag-9 at. % Zn alloy. From consideration of both the quasistationary and the stationary rates it is inferred that the vacancies are the faster diffusers, with activation energy close to 0.60 eV. More generally, the migration properties of the point defects in the whole range of the concentrated ..cap alpha..-solid solutions of the AgZn system are presented and discussed.

  16. β-Thalassemia Intermedia: A Bird’s-Eye View

    Directory of Open Access Journals (Sweden)

    Anthony Haddad

    2014-03-01

    Full Text Available Beta-thalassemia is due to a defect in the synthesis of the beta-globin chains, leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with no obvious clinical manifestations, while on the other end is thalassemia major, characterized by patients who present in their first years of life with profound anemia and regular transfusion requirements for survival. Along the spectrum lies thalassemia intermedia, a term developed to describe patients with manifestations that are neither mild enough nor severe enough to be classified in the spectrum’s extremes. Over the past decade, our understanding of β-thalassemia intermedia has increased tremendously with regards to molecular information as well as pathophysiology. It is now clear that β-thalassemia intermedia has a clinical presentation as well as complications associated with the disease that are different from those of β-thalassemia major. This review is designed to tackle issues related to β-thalassemia intermedia from the basic definition of the disease to paramedical issues, namely the quality of life in these patients. Genetics and pathophysiology are revisited, as well as the complications specific to this disease. These complications include effects on several organ systems, including the cardiovascular, hepatic, endocrine, renal, brain, and skeletal systems. Extramedullary hematopoiesis is also discussed in this article. Risk factors are highlighted and cutoffs are identified to minimize morbidities in β-thalassemia intermedia. Several treatment modalities are considered by shining a light on the pros and cons of each modality, as well as the role of special pharmacological agents in the progress of the disease and its morbidities. Finally, health-related quality of life is discussed in these patients with a direct comparison

  17. Continuous three-dimensional radiation dosimetry in tissue-equivalent phantoms using electron paramagnetic resonance in L-. cap alpha. -alanine

    Energy Technology Data Exchange (ETDEWEB)

    Wielopolski, L.; Maryanski, M.; Ciesielski, B.; Forman, A.; Reinstein, L.E.; Meek, A.G.

    1987-07-01

    A new tissue-equivalent phantom material has been developed which also acts as a dosimeter. The new phantom material has a similar elemental composition to that of soft tissue and has a density 1.1 g/cm/sup 3/. The phantom has an agar-gel base, and contains crystallized L-..cap alpha..-alanine which traps radiation-induced free radicals. Samples from the phantom were analyzed by an electron paramagnetic resonance (EPR) spectrometer and the intensity of the EPR signal was related to the absorbed dose. When calibrated, the phantom material acts as a dosimeter, with applications in radiation therapy.

  18. Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor

    OpenAIRE

    Prabahar Murugesan; Jain Manish; Chandrasekaran Venkatraman; Indhumathi Elayaperumal; Soundararajan Periasamy

    2008-01-01

    Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with ...

  19. Immunochemical detection of a primase activity related subunit of DNA polymerase. cap alpha. from human and mouse cells using the monoclonal antibody

    Energy Technology Data Exchange (ETDEWEB)

    Yagura, T.; Kozu, T.; Seno, T.; Tanaka, S.

    1987-12-01

    A hybrid cell line (HDR-854-Er) secreting monoclonal antibody (E4 antibody) against a subunit of human DNA polymerase ..cap alpha.. was established by immunizing mice with DNA replicase complex (DNA polymerase ..cap alpha..-primase complex) prepared from HeLa cells. The E4 antibody immunoprecipitates DNA replicase complex from both human and mouse cells. The E4 antibody neutralized the primase activity as assessed either by the direct primase assay (incorporation of (..cap alpha..-/sup 32/P)AMP) or by assay of DNA polymerase activity coupled with the primase activity using unprimed poly(dT) as a template. The E4 antibody does not neutralize DNA polymerase ..cap alpha.. activity with the activated calf thymus DNA as a template. Western immunoblotting analysis shows that the E4 antibody binds to a polypeptide of 77 kilodaltons (kDa) which is tightly associated with DNA polymerase ..cap alpha... The 77-kDa polypeptide was distinguished from the catalytic subunit (160 and 180 kDA) for DNA synthesis which was detected by another monoclonal antibody, HDR-863-A5. Furthermore, it is unlikely that the 77-kDa peptide is the primase, since we found that the E4 antibody also immunoprecipitates the mouse 7.3 S DNA polymerase ..cap alpha.. which has no primase activity, and Western immunoblotting analysis shows that the 77-kDa polypeptide is a subunit of the 7.3S DNA polymerase ..cap alpha... Furthermore, after dissociation of the primase from mouse DNA replicase by chromatography on a hydroxyapatite column in the presence of dimethyl sulfoxide and ethylene glycol, the 77-kDA polypeptide is associated with DNA polymerase ..cap alpha.., and not with the primase. These results indicate that the 77-kDa polypeptide detected with the E4 antibody is not the primase but is a subunit firmly bound to DNA polymerase ..cap alpha.. catalytic polypeptide and yet influences the activity of the associated DNA primase.

  20. Amino acid sequence of phospholipase A/sub 2/-. cap alpha. from the venom of Crotalus adamanteus

    Energy Technology Data Exchange (ETDEWEB)

    Heinrikson, R.L.; Krueger, E.T.; Keim, P.S.

    1977-07-25

    The complete amino acid sequence of Crotalus adamanteus venom phospholipase A/sub 2/-..cap alpha.. has been determined by analysis of the five tryptic peptides from the citraconylated, reduced, and S-(/sup 14/C)carboxamidomethylated enzyme. Earlier studies provided the information necessary to align the tryptic fragments so that secondary cleavage procedures to establish overlaps were unnecessary. The subunit in the phospholipase A/sub 2/-..cap alpha.. dimer is a single polypeptide chain containing 122 amino acids and seven disulfide bonds. The histidine residue implicated in the active site of mammalian phospholipases is at position 47 in the C. adamanteus enzyme and is located in a domain of the molecule which is highly homologous in sequence with corresponding regions of phospholipases from a variety of venom and pancreatic sources. Comparative sequence analysis has revealed insights with regard to the function and evolution of phospholipases A/sub 2/. Primary structural relationships observed among the snake venom enzymes parallel the phylogenetic classification of the venomous reptiles from which they were derived. It is proposed that phospholipases A/sub 2/ of this general type be divided into two groups depending upon the presence or absence of distinctive structural features elucidated in this study.

  1. Learning about Thalassemia

    Science.gov (United States)

    ... thalassemia, which affects mainly individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn ... can be done around the 11th week of pregnancy using chorionic villi sampling (CVS). This involves removing ...

  2. Neutron activation analysis of several elements in the unicellular alga Cyanidium caldarium irradiated by. cap alpha. particles from neutron captured boron

    Energy Technology Data Exchange (ETDEWEB)

    Yamaguchi, Shuho; Oota, Tadachika; Otani, Mayumi; Aso, Sueo (Tokyo Univ. of Agriculture (Japan))

    1984-02-01

    The TRIGA MARK 2 atomic reactor was used not only for instrumental neutron activation analysis (INAA) but also as the irradiation source of ..cap alpha.. particles derived from the /sup 10/B(n, ..cap alpha..)/sup 7/Li reaction for biological samples. The acidophilic and thermophilic unicellular alga (Cyanidium caldarium Geitler) was incubated for 20 hours after irradiation and then its elemental concentrations were analysed by INAA. An increase in the quantities of /sup 56/Mn, /sup 28/Al and /sup 38/Cl, and a decrease of /sup 27/Mg and /sup 42/K were detected in the irradiated cells in contrast to non-irradiated cells.

  3. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cold Spring Harbor Laboratory: Your Genes Your Health Disease InfoSearch: Beta Thalassemia Genomics Education Programme (UK) MalaCards: dominant beta-thalassemia Merck Manual ...

  4. Study on genetic screening and diagnosis of alpha thalassemia by real-time fluorescent quantitative PCR%荧光定量PCR技术在α地中海贫血基因筛查与诊断中的研究

    Institute of Scientific and Technical Information of China (English)

    何平亚; 丁忠英; 张鑫丽; 沈国松

    2014-01-01

    目的 了解本地区孕妇α地中海贫血基因携带情况及其血液学特点,为预防地中海贫血出生缺陷提供科学数据.方法 采用荧光定量PCR技术,对1000例孕妇进行α地中海贫血基因筛查与诊断,阳性标本用传统地中海贫血基因诊断方法进行验证;并同时用血红蛋白电泳技术对该1000例孕妇样本进行α地中海贫血筛查.结果 1000例孕妇中α地中海贫血基因携带16例,携带率为1.6%,基因型分别是:缺失型16例,突变型0例;传统α地中海贫血基因诊断方法验证:基因型分别是:缺失型16例,突变型0例,结果全部吻合;血红蛋白毛细管电泳筛查提示有α地中海贫血者5例.结论 本地区α地中海贫血基因携带率为1.6%,采用合理的方法进行育龄孕妇普遍筛查对预防出生缺陷的发生有积极意义.%Objective To investigate the gene carried condition and hematological characteristics of α-thalassemia in pregnant women in HuZhou area,and provide scientific data for prevention of birth defects with thalassemia.Methods Real-time fluorescent quantitative PCR (Real-time PCR) was applied for genetic screening and diagnosis of alpha thalassemia on 1000 cases of pregnant women.Positive samples were verified by traditional gene diagnosis of α-thalassemia,meanwhile using hemoglobin electrophoresis technology to screen alpha thalassemia.Results 16 cases were detected α-thalassemia and the thus α-thalassemia carrier ratio was 1.6%.16 patients were diagnosed as deletion type of α-thalassemia,while mutantion type was not detected.These results were the same as checked by traditional gene diagnosis of α-thalassemia.All samples screening for hemoglobin by capillary zone electrophores,α-thalassaemia screening was positive in 5 cases.Conclusion The α-thalassemia gene carrying rate of pregnant women in Huzhou city was 1.6%.Using reasonable methods to screen pregnant women has positive significance on prevention of the

  5. Beta-thalassemia

    Directory of Open Access Journals (Sweden)

    Origa Raffaella

    2010-05-01

    Full Text Available Abstract Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands, dilated myocardiopathy, liver fibrosis and cirrhosis. Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes, gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely

  6. Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman.

    Science.gov (United States)

    Hassan, S M; Al Muslahi, M; Al Riyami, M; Bakker, E; Harteveld, C L; Giordano, P C

    2014-01-01

    We report the general phenotype severity and the hematological presentation in a cohort of 125 sickle cell anemia (SCA) patients with identical homozygous HbS/S genotype and categorized by identical β(S) haplotype, both with and without alpha thalassemia. No clear general phenotype correlation was found when patients were compared regardless of the haplotype but overall, patients with homozygous alpha thalassemia (α-/α-) had the highest Hb, HCT, RBC and the lowest MCV, MCH and MCHC levels. When patients with identical haplotype were compared, the mildest hematological and clinical conditions were observed in patients of the Asian/Asian haplotype, also known as Arab-Indian haplotype, and carriers of α-thalassemia, suggesting an additional ameliorating effect of alpha thalassemia. In conclusion, our results show that alpha thalassemia improves the hematological conditions but amelioration of the general disease severity is only noticed when compared in cohorts of the same haplotype. PMID:25266642

  7. Angular and velocity distributions of secondary particles emitted in interaction of 3. 6-GeV/nucleon. cap alpha. particles and lead nuclei

    Energy Technology Data Exchange (ETDEWEB)

    Antonenko, V.G.; Vinogradov, A.A.; Galitskii, V.M.; Grigor' yan, Y.I.; Ippolitov, M.S.; Karadzhev, K.V.; Kuz' min, E.A.; Man' ko, V.I.; Ogloblin, A.A.; Paramonov, V.V.; Tsvetkov, A.A.

    1980-04-01

    The technique is described and results presented of measurements of the velocity and angular distributions of pions, protons, and deuterons, and tritons emitted in bombardment of lead nuclei by ..cap alpha.. particles with energy 3.6 GeV/nucleon.

  8. A comparison of the in vitro binding of. cap alpha. -tocopherol to microsomes of lung, liver, heart and brain of the rat

    Energy Technology Data Exchange (ETDEWEB)

    Murphy, D.J.; Mavis, R.D.

    1981-01-01

    The in vitro binding of ..cap alpha..-tocopherol to microsomes of lung, liver, heart and brain of the rat was studied with the insoluble tocopherol ligand presented as a complex with bovine serum albumin. Under these conditions, all microsomes showed nonsaturable binding of ..cap alpha..-tocopherol and the amount bound to microsomes was linearly proportional to the concentration of albumin-complexed tocopherol. Increasing the amount of ..cap alpha..-tocopherol bound to microsomes in this manner reduced the extent of lipid peroxidation induced by added ferrous iron. The apparent affinities of the microsomes for ..cap alpha..-tocopherol, as indicated by the amount bound at a given concentration of albumin-complexed tocopherol, decreased in the order brain>liver approximately equal to heart>lung. The differences in affinity did not correlate with total fatty acid content (r=-0.39), total unsaturated fatty acid content (r=-0.26), or with the content of fatty acids containing two or more double bonds (r=-0.01). A high positive correlation was found with the content of fatty acids containing three or more double bonds (r=+0.96). Since lung microsomes contain approximately 6-times the tocopherol levels of liver and brain and about twice that of heart microsomes, these results show that the in vivo levels of microsomal tocopherol do not reflect microsomal affinity for this biological antioxidant.

  9. Cyclic AMP regulation of the human glycoprotein hormone. cap alpha. -subunit gene is mediated by an 18-base-pair element

    Energy Technology Data Exchange (ETDEWEB)

    Silver, B.J.; Bokar, J.A.; Virgin, J.B.; Vallen, E.A.; Milsted, A.; Nilson, J.H.

    1987-04-01

    cAMP regulates transcription of the gene encoding the ..cap alpha..-subunit of human chorionic gonadotropin (hCG) in the choriocarcinoma cells (BeWo). To define the sequences required for regulation by cAMP, the authors inserted fragments from the 5' flanking region of the ..cap alpha..-subunit gene into a test vector containing the simian virus 40 early promoter (devoid of its enhancer) linked to the bacterial chloramphenicol acetyltransferase (CAT) gene. Results from transient expression assays in BeWo cells indicated that a 1500-base-pair (bp) fragment conferred cAMP responsiveness on the CAT gene regardless of position or orientation of the insert relative to the viral promoter. A subfragment extending from position -169 to position -100 had the same effect on cAMP-induced expression. Furthermore, the entire stimulatory effect could be achieved with an 18-bp synthetic oligodeoxynucleotide corresponding to a direct repeat between position -146 and -111. In the absence of cAMP, the ..cap alpha..-subunit 5' flanking sequence also enhanced transcription from the simian virus 40 early promoter. They localized this enhancer activity to the same -169/-100 fragment containing the cAMP response element. The 18-bp element alone, however, had no effect on basal expression. Thus, this short DNA sequence serves as a cAMP response element and also functions independently of other promoter-regulatory elements located in the 5' flanking sequence of the ..cap alpha..-subunit gene.

  10. E2 contribution to the /sup 12/C(. cap alpha. ,. gamma. )/sup 16/O reaction at stellar energies in a coupled channel approach

    Energy Technology Data Exchange (ETDEWEB)

    Funck, C.; Langanke, K.; Weiguny, A.

    1985-02-28

    The E2 part of the /sup 12/C(..cap alpha..,..gamma..)/sup 16/O capture process at stellar energies is calculated in a microscopically founded coupled channel approach based on the rotational model of Tamura. At the astrophysically most effective energy we obtain an S-factor for E2 capture of Ssub(E2)(300 keV)=0.10 MeV b.

  11. Chiral effects on the /sup 13/C resonances of. cap alpha. -tocopherol and related compounds. A novel illustration of Newman's rule of six

    Energy Technology Data Exchange (ETDEWEB)

    Brownstein, S.; Burton, G.W.; Hughes, L.; Ingold, K.U.

    1989-02-03

    The 100-MHz /sup 13/C NMR spectrum of (2R,4'R,8'R)-..cap alpha..-tocopherol (natural vitamin E) has been completely assigned with the aid of a number of selectively deuteriated (2R,4'R,8'R)-..cap alpha..-tocopherols. The /sup 13/C NMR spectrum of (2RS,4'RS,8'RS)-..cap alpha..-tocopherol (all-racemic, synthetic vitamin E) has also been measured. Many of the individual carbons in this all-racemic mixture of eight ..cap alpha..-tocopherol stereoisomers give more than one resonance with eight of the carbons (2-CH/sub 3/, 2',3',4',4'-CH/sub 3/, 5', 8', and 9') giving the maximum number of four resonances from each of the four enantiomeric pairs; these resonances have also been assigned. The structurally related 5'-hydroxy-2-(4',8',12'-trimethyltridecyl)-2,4,6,7-tetramethyl-2,3,-dihydrobenzofuran (HTDBF) has been synthesized for the first time in the 2R,4'R,8'R and 2S,4'R,8'R configurations and their /sup 13/C resonances have been assigned. In its all-racemic form this compound also shows up to four resonances from a single carbon. Related observations have been made with phytol and isophytol. A careful examination of these chirally induced chemical shift differences for the individual carbon atoms, ..delta.., reveals a bond-alternation effect with maxima at a separation of one, three, and five bonds from the closest chiral center and with the maximum at a five-bond separation being greater than that at a three-bond separation. 32 references, 2 figures, 4 tables.

  12. α-地中海贫血基因型和红细胞参数关系的研究%Study on correlation between erythrocyte indices and genotype in cases with alpha-thalassemia

    Institute of Scientific and Technical Information of China (English)

    张永良; 汪伟山; 周玉球; 肖奇志; 谢建红

    2012-01-01

    Objective To investigate the correlation between the erythrocyte indices and the genotypes of alpha thalassemia.Methods 337 carriers with various genotypes of alpha-thalassaemia ( iron deficiency,alpha-thalassemia double heterozygote and homozygote,α-compounding β-thalassemia and abnormal hemoglobinopathy were excluded) were classified into three groups based on different genotypes of alpha-thalassaemia including silent thalassemia group (ST,83 cases),α-thalassemia trait group (TT,210cases) and intermediate thalassemia group( IT,44 cases),and 154 healthy adults were randomly choosed as normal control The erythrocyte indices involving in RBC,Hb,MCV,MCH,MCHC and RDW-CV were retrospectively analyzed and the difference of which was compared by analysis of variance and SNK test among aboved-mentioned groups.Results There were statistical significance among groups about erythrocyte indices except Hb F.The order of the level of MCV and MCH was NC [( 86.6 ± 5.2) fl,( 29.5 ± 2.1 ) pg] >ST[(80.1 ±3.3) fl,(26.7±1.3) pg] >TT[(68.5 ±3.4) fl,(22.0 ±1.2) pg] >IT[(66.6±7.1)fl,(20.0 ±2.2) pg,F =580.67,761.19,P <0.05].And the size of RDW-CV was IT(22.3 ±3.4)% >TT (14.9±1.2) % >ST(13.8±1.6)% >NC(13.2±1.4)%(F=347.25,P<0.05).In ST group,the value of MCHC of -α3.7/αα subgroup( 335.6 ± 8.0) g/L was higher than that of -α4.2/αα subgroup( 330 ±7.2) g/L and αTα/αα subgroup (328.4 ±9.5) g/L(F=6.07,P <0.05).Meanwhile,in IT group,the value of MCV of αTα/--SEA subgroup( 70.1 ± 7.2 ) fl was higher than that of -α3.7/--SEA subgroup ( 63.4 ±5.9) fl and -α4.2/--SEA subgroup ( 64.1 ± 4.0 ) fl ( F =5.55,P < 0.05 ).However,the value of MCHC of αTα/--SEA subgroup( 289.7 ± 21.2 ) g/L was lower than that of other two subgroups [( 306.3 ± 8.4 ),(306.1 ± 8.7) g/L,F =8.72,P <0.05].Except Hb A2 and Hb F,there was positive correlation between the number of deleted α-globin gene and that of RBC and RDW-CV ( r =0.318 and 0.580,P <0

  13. cap alpha. -L-iduronidase deficiency in mucopolysaccharidosis type I against a radio-labelled sulfated disaccharide substrate derived from dermatan sulfate

    Energy Technology Data Exchange (ETDEWEB)

    Muller, V.J.; Hopwood, J.J. (Department of Chemical Pathology, The Adelaide Children' s Hospital Inc., North Adelaide, South Australia)

    1984-01-01

    ..cap alpha..-L-Iduronidase activity was assayed by incubation of a radiolabelled disaccharide, O-(..cap alpha..-L-idopyranosyluronic acid)-(1 arrow 3)-2,5 anhydro-D-(1, /sup 3/H)-talitol 4-sulfate (IdoA-anT4S) derived from dermatan sulfate, with homogenates of leucocytes, cultured amniotic cells and skin fibroblasts from normal individuals and patients affected with an ..cap alpha..-L-iduronidase-deficiency disorder (mucopolysaccharidosis type I, MPS I), parents of such patients and patients affected with other mucopolysaccharidoses. The assay clearly distinguished affected homozygotes from normal controls, heterozygotes and other mucopolysaccharidosis types. Preliminary results show that fibroblast homogenates from patients with the MPS I Hurler phenotype were virtually unable to hydrolyse IdoA-anT4S, whereas fibroblast homogenates from a patient with a relatively mild (Scheie) phenotype exhibited a residual activity with Vsub(max) value of 2.5 pmol/min/mg protein and an apparent Ksub(m) of 21 ..mu..mol/l compared to a range of 1020-2105 pmol/min/mg for Vsub(max) and 12-35 ..mu..mol/l for Ksub(m) for fibroblasts from normal controls.

  14. Influence of prostaglandins E/sub 2/ and F/sub 2. cap alpha. / on the zinc transport across rat mid-intestine in vitro

    Energy Technology Data Exchange (ETDEWEB)

    Song, M.K.; Adham, N.F.; Lee, D.B.N.; Carmack, C.R.

    1986-03-05

    Effects of physiological (5.0 ..mu..M) and pharmacological (50 ..mu..M) doses of prostaglandins (PG) E/sub 2/ and F/sub 2..cap alpha../ on the zinc transport rate across rat jejunum mounted on a Ussing Chamber were determined. Zinc transport rate from mucosal to serosal direction was 4.82 +/- 0.81 n moles/hr/cm/sup 2/ whereas the opposite direction was 18.71 +/- 0.96 n moles/hr/cm/sup 2/. When 5.0 ..mu..M or 50 ..mu..M PGE/sub 2/ or PGF/sub 2..cap alpha../ were added into Ringers-Krebs bicarbonate solution containing 3 mM L-histidine and 0.5 mM /sup 65/Zn Cl/sub 2/ to the mucosal side of mucosa, no significant difference in /sup 65/Zn transport rate was observed compared to controls. However, 5.0 ..mu..M PGF/sub 2..cap alpha../ and 50 ..mu..M PGE/sub 2/ significantly inhibited zinc transport from mucosal to serosal direction. When PGs were added to the opposite side of mucosa, only 5.0 ..mu..M PGs significantly inhibited zinc transport from serosal to mucosal direction. Results suggest that PGs act on the inhibition of zinc transport across the basolateral membrane of columnar absorbing cells and that 50 ..mu..M PGE/sub 2/ was the most powerful inhibitor.

  15. 胎儿脐带血检测在α-珠蛋白生成障碍贫血产前诊断中的价值%Analysis of fetal cord blood in prenatal diagnosis of alpha thalassemia

    Institute of Scientific and Technical Information of China (English)

    李东明; 韦媛; 玉晋武; 何升; 张强; 阙婷; 唐燕青

    2013-01-01

    Objective To evaluate the clinical application of cord blood hemocytometric indices in prenatal diagnosis for alpha thalassemia. Methods Hematology and alpha-globin gene analysis were carried out among 2099 cases of third trimester umbilical cord blood. Optima cutoff values of MCH, HBG, HCT,MCV and RBC were analyzed by ROC curve in screening of alpha-thalassae-mia major. Results The area under ROC curve of MCH, HBG, HCT, MCV and RBC in order was 1,0. 997,0. 895,0. 853 and 0.686,and the optimal cutoff values were 26. 9 pg,100. 5 g/L,34. 5%,111. 8 fL and 2. 83×1012/L respectively. The sensitivity of them were 100% ,100% ,71% ,85. 5% and 75. 4%,and the specificity of each were 100% ,96. 8% ,90% ,80. 6% and 53.2% respectively. Conclusion The optimal cutoff values of MCH and HBG might have value of diagnostic application for screening alpha-thalassaemia major,and MCH could be the best which has no misdiagnosis or missed diagnosis.%目的 探讨胎儿脐带血血液学指标在α-珠蛋白生成障碍贫血产前诊断中的价值.方法 对2 099例孕晚期脐血进行血液学和α-珠蛋白基因分析,用ROC曲线分析MCH、HBG、HCT、MCV和RBC的最佳诊断阈值(cut off值),评价其在重型α-珠蛋白生成障碍贫血诊断中的价值.结果 MCH、HBG、HCT、MCV和RBC的ROC曲线下面积依次为1、0.997、0.895、0.853和0.686,最佳cut off值分别为26.9 pg、100.5 g/L、34.5%、111.8 fL和2.83×1012/L,灵敏度分别为100%、100%、71%、85.5%、75.4%;特异性分别为100%、96.8%、90%、80.6%、53.2%.结论 以ROC曲线分析得到的MCH、HBG最佳cut off值对重型α-珠蛋白生成障碍贫血具有较好的诊断价值,MCH价值最大,无误诊及漏诊.

  16. Molecular mechanism accounting for milder types of thalassemia major.

    Science.gov (United States)

    Furbetta, M; Tuveri, T; Rosatelli, C; Angius, A; Falchi, A M; Cossu, P; Meloni, A; Giagu, N; Cao, A

    1983-07-01

    We carried out alpha-globin gene analysis by restriction endonuclease mapping in 91 Sardinians with homozygous transfusion-dependent beta 0-thalassemia and correlated the clinical findings with the alpha-globin genotype. In patients (n = 6) with deletion of two alpha-globin structural genes, disease onset and transfusion dependence occur later than in those (n = 50) with a full complement of alpha-globin genes. There was no statistically significant difference in the group of patients (n = 35) with deletion of only one alpha-globin gene. Patients with deletion of two alpha-globin genes had significantly higher Hb A2 levels than those with a full complement of alpha-structural genes and those with deletion of a single alpha-globin gene. From this and other studies, it seems that the deletion of two alpha-globin structural genes may convert the common severe clinical picture associated with homozygous beta 0-thalassemia to milder forms, ranging from a later occurring but still transfusion-dependent type to a non-transfusion-dependent form. PMID:6191017

  17. Biochemical studies of mouse brain tubulin: colchicine binding (DEAE-cellulose filter) assay and subunits (. cap alpha. and. beta. ) biosynthesis and degradation (in newborn brain)

    Energy Technology Data Exchange (ETDEWEB)

    Tse, Cek-Fyne

    1978-01-01

    A DEAE-cellulose filter assay, measuring (/sup 3/H)colchicine bound to colchicine binding protein (CBP) absorbed on filter discs, has been modified to include lM sucrose in the incubation medium for complexing colchicine to CBP in samples before applying the samples to filter discs (single point assay). Due to the much greater stability of colchicine binding capacity in the presence of lM sucrose, multiple time-point assays and least squares linear regression analysis were not necessary for accurate determination of CBP in hybrid mouse brain at different stages of development. The highest concentrations of CBP were observed in the 160,000g supernatant and pellet of newborn brain homogenate. Further studies of the modified filter assay documented that the assay has an overall counting efficiency of 27.3%, that DEAE-cellulose filters bind and retain all tubulin in the assay samples, and that one molecule of colchicine binds approximately one molecule of tubulin dimer. Therefore, millimoles of colchicine bound per milligram total protein can be used to calculate tubulin content. With this technique tubulin content of brain supernatant was found to be 11.9% for newborn, and 7.15% for 11 month old mice. Quantitative densitometry was also used to measure mouse brain supernatant actin content for these two stages. In vivo synthesis and degradation rates of tubulin ..cap alpha.. and ..beta.. subunits of two day mouse brain 100,000g supernatant were studied after intracerebral injection of (/sup 3/H)leucine. Quantitative changes of the ratio of tritium specific activities of tubulin ..cap alpha.. and ..beta.. subunits with time were determined. The pattern of change was biphasic. During the first phase the ratio decreased; during the second phase the ratio increased continuously. An interpretation consistent with all the data in this study is that the ..cap alpha.. subunit is synthesized at a more rapid rate than the ..beta.. subunit. (ERB)

  18. Collective relaxation, single particle motion and short range order in. cap alpha. '-NbD/sub x/: A quasielastic neutron scattering study

    Energy Technology Data Exchange (ETDEWEB)

    Hempelmann, R.; Richter, D.; Faux, D.A.; Ross, D.K.

    1988-01-01

    Applying both incoherent and coherent quasielastic neutron scattering we have studied simultaneously single particle motion, collective relaxation and short range order of deuterium in ..cap alpha..'-NbD/sub x/. A comparison with recent Monte Carlo simulations lead to a consistent description of all results in terms of strongly repulsive deuterium-deuterium interactions. Relating the independently determined tracer and chemical diffusion coefficients with the also measured structure factor we show experimentally that for lattice gases the de Gennes narrowing Ansatz needs to be modified by correlation factors. 18 refs., 3 figs., 1 tab.

  19. Hepcidin in β-thalassemia

    OpenAIRE

    Nemeth, Elizabeta

    2010-01-01

    Iron overload is the principal cause of morbidity and mortality in β-thalassemia with or without transfusion dependence. Iron homeostasis is regulated by the hepatic peptide hormone hepcidin. Hepcidin controls dietary iron absorption, plasma iron concentrations, and tissue iron distribution. Hepcidin deficiency is the main or contributing factor of iron overload in iron-loading anemias such as β-thalassemia. Hepcidin deficiency results from a strong suppressive effect of the high erythropoiet...

  20. Transfusion regimens in thalassemia intermedia

    OpenAIRE

    Karakas, Z

    2011-01-01

    Thalassemia intermedia (TI) is a heterogeneous disease, in terms of both clinical manifestations and underlying molecular defects. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from early childhood. In contrast with patients with Thalassemia major (TM), the severity of anemia is less and the patients do not require transfusions during at least the first few years of life. Many patients with TI, especially older ones, have been exposed to the multiple long-...

  1. Serum Ferritin in Thalassemia Intermedia

    OpenAIRE

    Shah, Ravi; Trehan, Amita; Das, Reena; R K Marwaha

    2013-01-01

    Serum ferritin is a useful monitoring tool for iron overload in thalassemia major. In resource poor settings access to modalities for assessment of iron overload are limited. This study was undertaken to assess the efficiency and usefulness of serum ferritin level in thalassemia intermedia (TI) patients. This was a cross sectional observational study. Seventy seven TI patients attending the pediatric hematology clinic were included. Fasting blood sample was taken from each patient in iron fre...

  2. Pregnancy outcomes amongst thalassemia traits

    OpenAIRE

    Hanprasertpong, Tharangrut; Kor-anantakul, Ounjai; Leetanaporn, Roengsak; Suntharasaj, Thitima; Suwanrath, Chitkasaem; Pruksanusak, Ninlapa; Pranpanus, Savitree

    2013-01-01

    Objective To compare the pregnancy outcome between pregnancies affected and not affected by thalassemia trait. Methods A retrospective case–control cohort study was conducted on singleton pregnant women who attended antenatal care and delivered at Songklanagarind Hospital. All of the participating thalassemia trait pregnant women were diagnosed based on hemoglobin typing and/or DNA analysis. A ratio of around 1–1 was used to compare their pregnancy outcomes with normal pregnant women. Results...

  3. The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival.

    Directory of Open Access Journals (Sweden)

    Maryam Bibi Rumaney

    Full Text Available BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. METHODS AND FINDINGS: We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A, HMIP1/2, OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%. Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes. Among patients, 37.3% (n = 60 had at least one 3.7 kb deletion, compared to 10.9% (n = 6 among HbAA controls (p<0.001. Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001], as well as median WBC counts [13.2, 10.5 and 9.8×109/L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038. CONCLUSION: The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the

  4. /sup 45/Ca efflux for myometrial cells: comparison of the effects of prostaglandin F/sub 2/. cap alpha. (PGF/sub 2/), oxytocin (OT) and arachidonate (A)

    Energy Technology Data Exchange (ETDEWEB)

    Katona, G.; Molnar, M.; Toth, M.; Hertelendy, F.

    1986-03-01

    The aim of this study was to measure PGF/sub 2..cap alpha../-induced Ca/sup 2 +/ release from uterine cells and to compare this to the actions of OT and A. Smooth muscle cells isolated from the uterus (shell gland) of laying hens were cultured for 7 days in M199 plus 10% fetal calf serum. The cells were treated with digitonin (20..mu..M) and preloaded with /sup 45/Ca for 40 min. Addition of PGF/sub 2..cap alpha../ caused a biphasic /sup 45/Ca-efflux. There was a small but significant /sup 45/Ca-release within 30 sec (rapid phase) followed by a larger one within 7 min (slow phase). In comparison, both OT and A stimulated /sup 45/Ca efflux during a single, slow phase. The maximal effect of A was observed at < 7 min, whereas that of OT was slower, peaking after 7 min. Mepacrin, an inhibitor of A release, attenuated the action of OT without having any effect on A promoted /sup 45/Ca-efflux. Indomethacin, an inhibitor of PG synthase, failed to suppress the Ca-releasing effect of A suggesting the A itself or a lipoxygenase product may have been responsible for the observed effects. Moreover, these results provide suggestive evidence that A release is an important step in the action of various uterotonic agents converging on the mobilization of intracellular Ca.

  5. Beliefs about chelation among thalassemia patients

    OpenAIRE

    Trachtenberg Felicia L; Mednick Lauren; Kwiatkowski Janet L; Neufeld Ellis J; Haines Dru; Pakbaz Zahra; Thompson Alexis A; Quinn Charles T; Grady Robert; Sobota Amy; Olivieri Nancy; Horne Robert; Yamashita Robert

    2012-01-01

    Abstract Background Understanding patients’ views about medication is crucial to maximize adherence. Thalassemia is a congenital blood disorder requiring chronic blood transfusions and daily iron chelation therapy. Methods The Beliefs in Medicine Questionnaire (BMQ) was used to assess beliefs in chelation in thalassemia patients from North America and London in the Thalassemia Longitudinal Cohort (TLC) of the Thalassemia Clinical Research Network (TCRN). Chelation adherence was based on patie...

  6. Microcytic hypochromic anemia patients with thalassemia : Genotyping approach

    Directory of Open Access Journals (Sweden)

    Rahim Fakher

    2009-03-01

    Full Text Available Background: Microcytic hypochromic anemia is a common condition in clinical practice, and alpha-thalassemia has to be considered as a differential diagnosis. Aims: This study was conducted to evaluate the frequency of α-gene, β-gene and hemoglobin variant numbers in subjects with microcytic hypochromic anemia. Setting And Designs: Population-based case-control study in the Iranian population. Materials And Methods: A total of 340 subjects from southwest part of Iran were studied in the Research Center of Thalassemia and Hemoglobinopathies (RCTH, Iran. Genotyping for known a- and b-gene mutations was done with gap-PCR and ARMS. In cases of some rare mutations, the genotyping was done with the help of other techniques such as RFLP and ARMS-PCR. Statistical Analysis: Statistical analysis was carried out by SPSS 11.5 and an independent-sample t test. Results: Out of the total 340 individuals, 325 individuals were evaluated to have microcytic hypochromic anemia based on initial hematological parameters such as MCV< 80 fl; MCH < 27 pg; the remaining 15 patients were diagnosed with no definite etiology. The overall frequency of -α3.7 deletion in 325 individuals was 20.3%. The most frequent mutations were IVS II-I, CD 36/37 and IVS I-110 with frequencies of 6.31%, 5.27% and 1.64%, respectively. Only, there was a significant difference between beta-thalassemia trait and beta-thalassemia major with regard to MCV (P < 0.05 and MCH (P < 0.05 indices, and also MCH index between beta-thalassemia trait and Hb variants (P < 0.05. Conclusion: Molecular genotyping provides a rapid and reliable method for identification of common, rare and unknown a- and b-gene mutations, which help to diagnose unexplained microcytosis and thus prevent unnecessary iron supplementation.

  7. Renal tubular dysfunction nephrocalcinosis in a patient with BetaThalassemia Minor

    International Nuclear Information System (INIS)

    Thalassemia is a hereditary anemia resulting from defect in hemoglobinproduction. Beta thalassemia is due to impaired production. Beta thalassemiais due to impaired production of beta globin chains, leading to a relativeexcess of alpha globin chains. The term beta thalassemia minor is used todescribe heterozygotes, who carry one normal beta globin and one betathalassemic allele. The vast majority of these patients are asymptomatic.However, a variety of renal tubular abnormalities including hypercaliuria,hypomagnesemia with renal magnesium wasting, decreased tubular absorption ofphosphorous, hypouricemia with renal uric acid wasting, renal glycosuria andtubular proteinuria have been described even in patients with betathalassemia minor. We here in report a 24-year old patient who was found tohave thalassemia minor and nephrocalcinosis with evidence of renal tubulardysfunction. Investigations revealed normal renal function, hypercalciuria,reduced tubular reabsorption of phosphorous, hypomagnesemia and renalmagnesium wasting. Screening for aminoaciduria was found to be negative. Anacid loading test revealed normal urinary acidification. Ultrasonogram of theabdomen revealed nephrocalcinosis and splenomegaly. Detailed work up foranemia showed normal white cell and platelet count while peripheral smearshowed microcytic hypochromic anemia with few target cells. Hemoglobinelectrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% andhemoglobin F of 1.8% consistent with beta thalassemia minor. Her parentalscreening was normal. A diagnosis of beta thalassemia minor with renaltubular dysfunction was made and the patient was started on thiazidediuretics to reduce hypercalciuria and advised regular follow-up. (author)

  8. Approaches to management of beta-thalassemia intermedia

    Directory of Open Access Journals (Sweden)

    Joseph E. Maakaron

    2013-03-01

    Full Text Available Thalassemia intermedia is a genetically diverse group of diseases that is the result of an imbalance in the production of the alpha and beta chains with ensuing chronic hemolysis, ineffective erythropoiesis, and iron overload.Resulting complications include bone changes, hypercoagulability, and end-organ damage due to iron overload. This decade has witnessed major breakthroughs in the management of thalassemia. In this article, we examine these novelties in therapy including iron chelation therapy, stem cell transplant, and gene therapy.Iron chelation therapy has been revolutionized with the advent of deferasirox, a once-daily oral iron chelator, that has been shown to be safe and efficacious.Gene therapy was also at the core of this revolution with the discovery of novel gene elements and viral vectors allowing for better control and improved outcomes.

  9. Extractive separation of micro amounts of rhenium from molybdenite by quinoline and a modified method of rhenium determination by. cap alpha. -furyl-dioxime

    Energy Technology Data Exchange (ETDEWEB)

    Dorz, D.; Dobrowolski, J. (Politechnika Gdanska (Poland))

    1979-01-01

    The extractive separation of rhenium(7) by quinoline in alkaline solution as well as a modification of the spectrophotometric method for the determination of micro amounts of rhenium in a molybdenite from copper-molybdenum ores from Mongolia, using ..cap alpha..-furyldioxime has been developed. On the basis of the extractive separation method of perrhenate ion by quinoline from alkaline solution, rhenium has been determined in molybdenite. The molybdenite was decomposed by four different methods. Two of these decomposition methods, the fusion of Na/sub 2/O/sub 2/ with NaOH and the sintering of CaO with KMnO/sub 4/ were found as the best ones.

  10. Influence of preliminary chronic irradiation and treatment with. cap alpha. -tocopherol on the frequency of chromosome aberrations in mouse bone marrow cells induced by acute. gamma. -irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Aliev, A.A.; Akhundov, V.Yu.; Alekperov, U.K.; Gamzaeva, I.A.; Asadova, A.I.; Shekhtman, A.B.; Gabaj, N.S. (AN Azerbajdzhanskoj SSR, Baku. Inst. Botaniki)

    The incidence of chromosome aberrations in bone marrow cells of femur did not exceed the spontaneous one in CBA mice exposed, during 70 days, to ..gamma..-radiation at dose-rates of 33.7-35.8 nA/kg and cumulative dose of 2.75 Gy. A single acute exposure of intact animals to a dose of 2.98 Gy increased significantly the mutation level. Preirradiation with small doses increased the resistance of hereditary structures to sublethal radiation doses. Exogenous ..cap alpha..-tocopherol (0.06 mg/20 g mass) protected the genetic apparatus of cells from total-body irradiation and was an additional factor decreasing the mutaton level after acute exposure of mice at the background of long-term irradiation with small doses.

  11. Hemoglobin profiles of siblings of thalassemia patients

    Directory of Open Access Journals (Sweden)

    Muhammad Riza

    2015-03-01

    Full Text Available Background Thalassemia and hemoglobinopathies are the most common inherited disorders in many areas of the world, including South East Asia. The siblings of thalassemia major is a group of high risk to carry the gene of thalassemia. Determining the carrier is useful for early treatment planning and prevention to the next child. Objective To determine carrier status among siblings of thalassemia patients using a capillary electrophoresis system. Methods A cross-sectional study on the siblings of thalassemia major patients was performed from January 2011 to February 2012 at Dr. Moewardi Hospital. Complete blood counts were performed in the siblings. Subjects with mean corpuscular volume (MCV <80 fl and mean corpuscular hemoglobin (MCH <27 pg were subjected to analize hemoglobin fraction by capillary electrophoresis. Results Of the 26 subjects, there were 12 males and 14 females. The mean age was 9.38 (SD 6.8 years (range 1 to 29 years. From the siblings, 10 were identified as normal, 5 were identified as ß thalassemia carriers and 5 were hemoglobin E (HbE carriers. Six siblings were diagnosed with ß thalassemia/ HbE. Conclusion There are high occurrence of the two common types of thalassemia carriers (ß and HbE in our small group of subjects who had a family history of thalassemia. Most of the siblings of thalassemia had low MCV and MCH. [Paediatr Indones. 2015;55:70-3.].

  12. Role of a guanine nucleotide-binding protein in. cap alpha. /sub 1/-adrenergic receptor-mediated Ca/sup 2 +/ mobilization in DDT/sub 1/ MF-2 cells

    Energy Technology Data Exchange (ETDEWEB)

    Cornett, L.E.; Norris, J.S.

    1987-11-01

    In this study the mechanisms involved in ..cap alpha../sub 1/-adrenergic receptor-mediated Ca/sup 2 +/ mobilization at the level of the plasma membrane were investigated. Stimulation of /sup 45/Ca/sup 2 +/ efflux from saponin-permeabilized DDT/sub 1/ MF-2 cells was observed with the addition of either the ..cap alpha../sub 1/-adrenergic agonist phenylephrine and guanosine-5'-triphosphate or the nonhydrolyzable guanine nucleotide guanylyl-imidodiphosphate. In the presence of (/sup 32/P) NAD, pertussis toxin was found to catalyze ADP-ribosylation of a M/sub r/ = 40,500 (n = 8) peptide in membranes prepared from DDT/sub 1/, MF-2 cells, possibly the ..cap alpha..-subunit of N/sub i/. However, stimulation of unidirectional /sup 45/Ca/sup 2 +/ efflux by phenylephrine was not affected by previous treatment of cells with 100 ng/ml pertussis toxin. These data suggest that the putative guanine nucleotide-binding protein which couples the ..cap alpha../sub 1/-adrenergic receptor to Ca/sup 2 +/ mobilization in DDT/sub 1/ MF-2 cells is not a pertussis toxin substrate and may possibly be an additional member of guanine nucleotide binding protein family.

  13. Low Bone Mass in Thalassemia

    Science.gov (United States)

    4 Low Bone Mass in Thalassemia • In addition to a diet rich in calcium and vitamin D, your doctor may recommend taking calcium ... What can be done to treat low bone mass? Following all of the above prevention measures is ...

  14. Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

    Science.gov (United States)

    Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

    2016-07-01

    Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy. PMID:26935201

  15. Selective alpha particle decay of /sup 12/C + /sup 12/C resonances to excited /sup 20/Ne rotational bands observed in the /sup 12/C(/sup 12/C,. cap alpha. ) /sup 20/Ne reaction

    Energy Technology Data Exchange (ETDEWEB)

    Ledoux, R.J.; Ordonez, C.E.; Bechara, M.J.; Al-Juwair, H.A.; Lavelle, G.; Cosman, E.R.

    1984-09-01

    Excitation functions of the /sup 12/C(/sup 12/C, ..cap alpha..)/sup 20/Ne reaction were measured at Theta/sub lab/ = 7.5/sup 0/ between E/sub c.m./ = 14-40 MeV and angular distributions were measured from E/sub c.m./ = 17.8 to 20.6 MeV. Summed yields reveal prominent intermediate structure resonances over the entire range which correlate well to resonances previously observed in elastic data. The resonances show enhanced decays to excited rotational bands in /sup 20/Ne with reduced widths comparable to those for the elastic channel and an order of magnitude greater than those for the /sup 20/Ne ground state band. A discussion is given of the resonances as shape-isomeric states in a shell model secondary minimum in /sup 24/Mg, and of the selective alpha decay as being transitions to states of related configuration in /sup 20/Ne.

  16. Selective alpha particle decay of /sup 12/C+ /sup 12/C resonances to excited /sup 20/Ne rotational bands observed in the /sup 12/C(/sup 12/C,. cap alpha. ) /sup 20/Ne reaction

    Energy Technology Data Exchange (ETDEWEB)

    Ledoux, R.J.; Ordoez, C.E.; Bechara, M.J.; Al-Juwair, H.A.; Lavelle, G.; Cosman, E.R.

    1984-09-01

    Excitation functions of the /sup 12/C(/sup 12/C,..cap alpha..) /sup 20/Ne reaction were measured at theta/sub lab/ = 7.5/sup 0/ between E/sub c.m./ = 14--40 MeV and angular distributions were measured from E/sub c.m./ = 17.8 to 20.6 MeV. Summed yields reveal prominent intermediate structure resonances over the entire range which correlate well to resonances previously observed in elastic data. The resonances show enhanced decays to excited rotational bands in /sup 20/Ne with reduced widths comparable to those for the elastic channel and an order of magnitude greater than those for the /sup 20/Ne ground state band. A discussion is given of the resonances as shape-isomeric states in a shell model secondary minimum in /sup 24/Mg, and of the selective alpha decay as being transitions to states of related configuration in /sup 20/Ne.

  17. Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor

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    Prabahar Murugesan

    2008-01-01

    Full Text Available Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phos-phorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diag-nosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up.

  18. 一个伴α地中海贫血X连锁智力低下综合征家系的基因突变研究%Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome

    Institute of Scientific and Technical Information of China (English)

    林少宾; 孙宏钰; 宋新明; 陈路明; 杜敏联; 陈争

    2013-01-01

    目的 对1个X连锁智力低下伴α地中海贫血综合征(alpha thalassaemia/mental retardation syndrome,X-linked,ATR-X)的家系进行致病基因突变研究.方法 根据患者的临床表型和家系的遗传特点,应用X染色体短串联重复序列位点的连锁分析,定位智力低下的基因位点,初步锁定目的基因后,应用聚合酶链反应技术扩增致病基因外显子及剪切位点,应用DNA序列测定技术分析患者及其父母的致病性突变.地中海贫血基因检测确定患者基因型.结果 连锁分析提示ATRX基因可能是家系智力低下的致病基因.全部3例患者ATRX基因第9外显子均存在c.736C>T (p.R246C)突变.3例患者的母亲及祖母均为该突变携带者.其余8名家系成员均未检测到该基因突变.α地中海贫血检测证实先证者及另1例患者均携带α珠蛋白基因的缺失,基因型分别为-α3.7/αα和--sea/αα.结论 该家系ATRX基因的错义突变c.736C>T位于该基因突变热点区域,p.R246C可能影响ATRX蛋白锌指蛋白结构域的功能,可能是该家系ATR-X综合征的发病原因.%Objective To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).Methods Based on clinical symptoms and inheritance pattern,linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene.Subsequently,sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR).Potential mutations were detected by direct DNA sequencing.All patients were also analyzed for the trait of thalassemia.Results Linkage analysis indicated the candidate gene to be ATRX.Subsequently,a homozygous missense mutation c.736C>T (p.R246C) was found in exon 9 of ATRX in all of the 3 patients.And a heterozygous mutation c.736C>T (p.R246C) was also identified in the patient's mother and grandmother.Similar mutations were not

  19. Failure to replicate the internal structure of Greek-specific thalassemia quality of life instrument in adult thalassemia patients in Sabah

    Directory of Open Access Journals (Sweden)

    Keowmani T

    2016-02-01

    Full Text Available Thamron Keowmani,1 Lily Wong Lee Lee21Clinical Research Centre, 2Hematology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, MalaysiaPurpose: To study the validity and reliability of the Malay version of the Specific Thalassemia Quality of Life Instrument (STQOLI in Sabah’s adult thalassemia patients.Patients and methods: This cross-sectional study was done at Thalassemia Treatment Centre, Queen Elizabeth Hospital in Sabah, Malaysia. Eighty-two adult thalassemia patients who fulfilled the inclusion and exclusion criteria were conveniently selected for participation in the study. The English version of STQOLI was translated into Malay by using forward and back translations. The content of the questionnaire was validated by the chief hematologist of the hospital. The construct validity of the 40-item questionnaire was assessed by principal component analysis with varimax rotation and the scale reliability was assessed by Cronbach’s alpha.Results: The study failed to replicate the internal structure of the Greek STQOLI. Instead, 12 factors have been identified from the exploratory factor analysis, which accounted for 72.2% of the variance. However, only eight factors were interpretable. The factors were iron chelation pump impact, transfusion impact, time spent on treatment and its impact on work and social life, sex life, side effects of treatment, cardiovascular problems, psychology, and iron chelation pill impact. The overall scale reliability was 0.913.Conclusion: This study was unable to replicate the internal structure of the Greek STQOLI in Sabah’s adult thalassemia patients. Instead, a new structure has emerged that can be used as a guide to develop a questionnaire specific for adult thalassemia patients in Sabah. Future research should focus on the eight factors identified from this study.Keywords: STQOLI, validity, reliability, Malay, transfusion

  20. AWARENESS ABOUT THALASSEMIA: A SURVEY REPORT

    Directory of Open Access Journals (Sweden)

    Safila Naveed

    2014-02-01

    Full Text Available To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM regarding the disease. Methods: This (cross sectional study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 2013. Different Parents were interviewed using a pre designed questionnaire. Questions regarding duration of illness, screening of blood awareness regarding, mode of transmission of disease, prevention and treatment were asked. Results: We’ve determined the awareness ratio and found out that the awareness rate of thalassemia was not up to the mark as we thought. Among 200 populations only 22% of the people had good knowledge about thalassemia and rest 78% of people were not well aware of the disease as well as its consequences. Conclusion: From this survey we conclude that the awareness of people on thalassemia is negligible.

  1. AWARENESS ABOUT THALASSEMIA: A SURVEY REPORT

    Directory of Open Access Journals (Sweden)

    Safila Naveed

    2014-02-01

    Full Text Available Objective: To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM regarding the disease. Methods: This (cross sectional study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 2013. Different Parents were interviewed using a pre designed questionnaire. Questions regarding duration of illness, screening of blood awareness regarding, mode of transmission of disease, prevention and treatment were asked. Results: We’ve determined the awareness ratio and found out that the awareness rate of thalassemia was not up to the mark as we thought. Among 200 populations only 22% of the people had good knowledge about thalassemia and rest 78% of people were not well aware of the disease as well as its consequences. Conclusion: From this survey we conclude that the awareness of people on thalassemia is negligible.

  2. Perceptions of thalassemia and its treatment among Malaysian thalassemia patients: A qualitative study

    Directory of Open Access Journals (Sweden)

    Wan Ismahanisa Ismail

    2016-06-01

    Full Text Available Background Thalassemia is a common public health problem in Malaysia and one of the most common chronic and genetic disorders. Aims The present qualitative study explores knowledge about thalassemia, perceptions about conventional therapies and the points that affect Malaysian patients with thalassemia in taking medications correctly. Methods This study used a qualitative method. Purposive and theoretical samplings were combined to explore the issues related to thalassaemia and its perceptions. Twenty-one patients with thalassemia were recruited from the Thalassemia Society, Kedah, Malaysia from July to October 2015. The semi-structured interviews were audio taped, transcribed verbatim and translated into English for thematic content analysis. Results Participants perceived thalassemia as an incurable disease which is due to genetic and blood related disorders. A positive perception was shown towards conventional therapies considering it as effective for their condition. High treatment cost was given as a reason why patients perceived conventional therapies as effective. Fear of side effects was the main reason the patients gave for their delay in looking for treatment. However, due to limited treatment options, patients were reported to show positive attitude towards the side effects due to thalassemia treatment. Conclusion This explanatory investigation suggests that thalassemia patients’ understanding about thalassemia is complex in nature. The findings may help healthcare providers remove myths about the fear of the treatment. It may also help in improving patient’s compliance towards the thalassemia therapies. Main focus for future research should be on those patients who declined the conventional therapies.

  3. Cap +1 mutation; an unsuspected cause of beta thalassaemia transmission in Pakistan

    Directory of Open Access Journals (Sweden)

    Sadia Usman Babar

    2009-12-01

    Full Text Available Objective: Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes ‘silent beta thalassemia’ is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population.Materials and Methods: Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic DNA Purification Kit (Gentra system USA. Amplification Refractory Mutation System (ARMS primers were designed for detection of normal and mutant DNA.Basic hematological parameters were performed by using automated analyzer (Sysmex KX-21. Cellulose acetate hemoglobin electrophoresis was done by using semi-automated technique (INTERLAB Roma Microtech Series Electrophoresis system 4.23. Results: The frequency of Cap+1 mutation was observed 5% (10/200 in targeted thalassemic families (having patients with beta-thalassemia intermedia while its frequency was observed 2% (12/600 in total thalassemic genes in Pakistani population. Conclusion: Cap+1 (A-C is a silent mutation and it has very minimum effect on beta globin synthesis because of which it produces very less clinical severity and certain important laboratory diagnostic tests like basic hematological parameters and Hb A2 levels are also remain in normal range. Therefore individuals with Cap+1 mutation may produce children with beta-thalassemia intermedia if they marry an individual with beta-thalassemia minor. Cap+1 (A-C mutation is an unsuspected cause of beta thalassemia transmission in Pakistani population. This mutation can identify at molecular level. As this molecular defect is difficult to diagnose in Laboratory with routine laboratory tests because of that it has become a serious hindrance for thalassemia prevention program in Pakistan.

  4. INFECTIONS IN THALASSEMIA AND HEMOGLOBINOPATHIES

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    Deborah Rund

    2009-06-01

    Full Text Available

     

    The clinical approach to thalassemia and hemoglobinopathies, specifically Sickle Cell Disease (SCD, based on transfusions, iron chelation and bone marrow transplantation has ameliorated their prognosis. Nevertheless, infections still may cause serious complications in these patients. The susceptibility to infections in thalassemia and SCD arises both from a large spectrum of immunological abnormalities and from exposure to specific infectious agents. Four fundamental issues will be focused upon as central causes of immune dysfunction: the diseases themselves; iron overload, transfusion therapy and the role of the spleen. Thalassemia and SCD differ in their pathogenesis and clinical course. It will be outlined how these differences affect immune dysfunction, the risk of infections and the types of most frequent infections in each disease. Moreover, since transfusions are a fundamental tool for treating these patients, their safety is paramount in reducing the risks of infections. In recent years, careful surveillance worldwide and improvements in laboratory tests reduced greatly transfusion transmitted infections, but the problem is not completely resolved. Finally, selected topics will be discussed regarding Parvovirus B19 and transfusion transmitted infections as well as the prevention of infectious risk postsplenectomy or in presence of functional asplenia.

  5. Genotoxicity assessment in patients with thalassemia minor.

    Science.gov (United States)

    Al-Sweedan, Suleimman A; Khabour, Omar; Isam, Ruba

    2012-05-15

    Thalassemia is an inherited blood disorder that affects both genders and results in reduced synthesis of hemoglobin, and thus causing anemia. Previous studies have shown that the severe form of this disease, thalassemia major, is associated with genotoxicity. This includes increases in the level of sister chromatid exchange (SCEs), chromosomal aberrations (CAs) and micronuclei. In this study, we assessed genotoxicity in the lymphocytes of thalassemia minor subjects using sister chromatid exchange (SCE) and chromosomal aberration (CA) assays. In addition, we investigated the level of oxidative DNA damage by measuring 8-hydroxy-2'-deoxyguanosine (8OHdG) biomarker in urine samples. Eighteen thalassemia minor subjects and eighteen matched normal healthy controls were volunteered in the study. In addition, seven thalassemia major patients were recruited as positive controls. The results showed increases in the frequency of SCEs (P0.05). Both SECs and CAs in thalassemia major patients were significantly higher compared to other groups (P0.05). In conclusion, our results showed that thalassemia minor is associated with genotoxicity to blood lymphocytes as indicated by SCEs assay. PMID:22414564

  6. Effect of. cap alpha. -tocopherol, butylated-hydroxytoluene and hydroxy-anisole on the activation and binding of aflatoxin B/sub 1/ to macromolecules

    Energy Technology Data Exchange (ETDEWEB)

    Ch' ih, J.J.; Biedrzycka, D.; Devlin, T.M.

    1987-05-01

    The anti-oxidants, ..cap alpha..-tocopherol(TPA), butylated-hydroxy-toluene(BHT) and hydroxyanisole(BHA) inhibit the carcinogenic and toxic effects of a variety of chemical compounds, their effect on aflatoxin B/sub 1/ (AFB/sub 1/) activation and binding was examined utilizing rat liver microsomes and cells. With a NADPH generating system, oxygen, microsomes, (/sup 3/H)-AFB/sub 1/, 2.2 pmoles/h/mg protein was activated and bound to macromolecules. In hepatocytes, 3.4 and 1.4 pmoles of AFB/sub 1/ per 10/sup 6/ cells were taken up and bound to macromolecules, whereas the nucleic acid fraction contained 0.19 pmoles of bound AFB/sub 1/. Moderate decreases of AFB/sub 1/ activation and binding were observed when TPA was present in both cell-free and hepatocytes systems. Only in hepatocytes, BHT inhibited the AFB/sub 1/ uptake and binding to nucleic acids. BHA, however, inhibited microsomal activation of AFB/sub 1/ by 73%; maximum inhibition was reached at 1 mM. AFB/sub 1/ uptake, and binding to nucleic acids were inhibited by 65% and 79% by BHA. GSH-transferase activity of cells treated with these agents was not altered. The effect of BHA at various concentrations on AFB activation was compared with cytochrome P-450 inhibitors; the ED/sub 50/ of SKF 525A, BHA and metyrapone was 9 uM, 80 uM and 380 uM respectively. The data suggest that TPA, BHA and BHT exert their effect by different mechanisms.

  7. Avian serum. cap alpha. /sub 1/-glycoprotein, hemopexin, differing significantly in both amino acid and carbohydrate composition from mammalian (. beta. -glycoprotein) counter parts

    Energy Technology Data Exchange (ETDEWEB)

    Goldfarb, V.; Trimble, R.B.; Falco, M.D.; Liem, H.H.; Metcalfe, S.A.; Wellner, D.; Muller-Eberhard, U.

    1986-10-21

    The physicochemical characteristics of chicken hemopexin, which can be isolated by heme-agarose affinity chromatography, is compared with representative mammalian hemopexins of rat, rabbit, and human. The avian polypeptide chain appears to be slightly longer (52 kDa) than the human, rat, or rabbit forms (49 kDa), and also the glycoprotein differs from the mammalian hemopexins in being an ..cap alpha../sub 1/-glycoprotein instead of a ..beta../sub 1/-glycoprotein. The distinct electrophoretic mobility probably arises from significant differences in the amino acid composition of the chicken form, which, although lower in serine and particularly in lysine, has a much higher glutamine/glutamate and agrinine content, and also a higher proline, glycine, and histidine content, than the mammalian hemopexins. Compositional analyses and /sup 125/I concanavalin A and /sup 125/I wheat germ agglutinin binding suggest that chicken hemopexin has a mixture of three fucose-free N-linked bi- and triantennary oligosaccharides. In contrast, human hemopexin has give N-linked oligosaccharides and an additional O-linked glycan blocking the N-terminal threonine residue, while the rabbit form has four N-linked oligosaccharides. In keeping with the finding of a simpler carbohydrate structure, the avian hemopexin shows only a single band on polyacrylamide gel electrophoresis under both nondenaturing and denaturing conditions, whereas the hemopexins of the three mammalian species tested show several bands. In contrast, the isoelectric focusing pattern of chicken hemopexin is very complex, revealing at least nine bands between pH 4.0 and pH band 5.0, while the other hemopexins show a broad smear of multiple ill-defined bands in the same region.Results indicate the hemopexin of avians differs substantially from the hemopexins of mammals, which show a notable similarity with regard to carbohydrate structure and amino acid composition.

  8. Associations between a+-thalassemia and Plasmodium falciparum malarial infection in northeastern Tanzania

    DEFF Research Database (Denmark)

    Enevold, Anders; Alifrangis, Michael; Sanchez, Juan J;

    2007-01-01

    (>1200 m) to 45%-55% in low-altitude villages (<600 m). The carriage rate of alpha (+)-thalassemia decreased by approximately 12% per 100-m increase in altitude (P<.001) and was approximately 50% lower among those with patent parasitemia than among uninfected individuals (P=.014). The prevalence of the...

  9. AWARENESS ABOUT THALASSEMIA: A SURVEY REPORT

    OpenAIRE

    Safila Naveed; Huma Dilshad; Fajal Hashmi; Ayesha Khan; Nabila Salahuddin

    2014-01-01

    Objective: To determine the awareness among student of Pharm D, MBBS and general population with thalassemia major (TM) regarding the disease. Methods: This (cross sectional) study was conducted among students of MBBS, Pharm. D in different private and government sector universities in Karachi having close ended questions related to their knowledge about thalassemia from Sep 2013 to October 2013. Different Parents were interviewed using a pre designed questionnaire. Questions regarding durati...

  10. Alloimmunization among transfusion-dependent thalassemia patients

    OpenAIRE

    Sadeghian Mohammad; Keramati Mohammad; Badiei Zahra; Ravarian Mehrangiz; Ayatollahi Hossein; Rafatpanah Houshang; Daluei Mohammad

    2009-01-01

    Background: Thalassemia is a common hemoglobin disorder in Iran and one of the major public health problems. Although blood transfusions are lifesavers for thalassemia patients, they may be associated with some complications especially erythrocyte alloimmunization. The purpose of this study was to investigate the prevalence of red blood cell alloantibodies and to determine types of these antibodies among multiple-transfused thalassemic patients. Materials and Methods: A total of 313 thalas...

  11. C3 polymorphism in beta-thalassemia.

    Science.gov (United States)

    Germenis, A; Kalantzi, M; Karamerou, A; Politi, C; Fertakis, A

    1984-01-01

    The distribution of phenotypes and gene frequencies of the third component of complement (C3) were studied in 106 beta-thalassemic patients and in 112 carriers of the beta-thalassemia trait. A statistically significant association was found between the C3F gene and homozygous beta-thalassemia. It can be suggested that this association may be related with the high incidence of infections encountered in these patients. PMID:6419525

  12. Thalassemia

    Science.gov (United States)

    ... Collaboratives Launch Prematurity research centers What is team science? More than 75 years of solving problems March ... for your patients Medical resources Professional education Awards, scholarships & grants For policy makers Policies & positions State advocacy ...

  13. Prevention of thalassemia: experiences from Samui Island.

    Science.gov (United States)

    Sangkitporn, Somchai; Chongkitivitya, Narumol; Pathompanichratana, Sermsri; Sangkitporn, Siripakorn K; Songkharm, Boonnipa; Watanapocha, Urai; Pathtong, Wantanee

    2004-02-01

    Thalassemia is one of the most important genetic disorders in Thailand. A model for prevention of thalassemia by combining 4 strategies including education, carrier screening, counseling and prenatal diagnosis was developed by a thalassemia task force. A thalassemia work group was formed in order to develop a mechanism to integrate the model for real use on Samui Island where thalassemia is common and a specific disease oriented program is required. 200 health professionals working on Samui Island participated in the thalassemia educational courses. The specific training courses were also provided for obstreticians, medical technologists and counselors. A team of well-trained health professionals was established to manage public education. Information booklets, posters, brochures and mass media including spot radio and newspapers were used as educational materials. For carrier screening, blood samples of pregnant women from all health care organizations on Samui Island were collected and screened for thalassemia carriers by using the osmotic fragility (OF) test/the dichlorophenol indophenol precipitation (DCIP) tests at Samui Hospital. Samples with positive results were sent to the Regional Medical Sciences Center in Surat Thani for thalassemia diagnosis. When a carrier was identified, her spouse was offered testing. For at-risk couples, details of the disorder were included in counseling to help them reach a decision that was right to them, in the context of their unique medical, moral and social situations. Amniotic fluid samples were collected for prenatal diagnosis. All patient information was registered by using computer software. After 1 year of integration by using facilities of the Ministry of Public Health service system, a wide range of problems were identified. They underlined the need for effective health service structure co-operation, adequate education of responsible health professionals, explicit policies and a clear line of responsibility at local

  14. Transfusion regimens in thalassemia intermedia

    Directory of Open Access Journals (Sweden)

    Z. Karakas

    2011-12-01

    Full Text Available Thalassemia intermedia (TI is a heterogeneous disease, in terms of both clinical manifestations and underlying molecular defects. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from early childhood. In contrast with patients with Thalassemia major (TM, the severity of anemia is less and the patients do not require transfusions during at least the first few years of life. Many patients with TI, especially older ones, have been exposed to the multiple long-term effects of chronic anemia and tissue hypoxia and their compensatory reactions, including enhanced erythropoiesis and increased iron absorption. Bone marrow expansion and extramedullary hematopoiesis lead to bone deformities and liver and spleen enlargement. Therapeutic strategies in TI are not clear and different criteria are used to decide the initiation of transfusion and chelation therapy, modulation of fetal hemoglobin production, and hematopoietic stem cell transplantation on an individual basis. The clinical picture of well-treated TM patients with regular transfusionchelation therapy is better from TI patients who have not received adequate transfusion therapy. There is a significant role of early blood transfusion to prevent and treat complications commonly associated with TI, such as extramedullary erythropoiesis and bone deformities, autoimmune hemolytic anemia, leg ulcers, gallstones, pseudoxantoma elasticum, hyperuricosuria, gout and pulmonary hypertension, which are rarely seen in thalassemia major. Nowadays, indications of transfusion in patients with TI are chronic anemia (Hb < 7 g/dL, bone deformities, growth failure, extramedullary erythropoiesis, heart failure, pregnancy and preparation for surgical procedures. Conclusion: Adequate (regular or tailored transfusion therapy is an important treatment modality for increasing the quality of life in patients with thalassemia intermedia during childhood. 就临床表象和潜在的分子缺

  15. Molecular identification of Sicilian (dߺ-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil

    Directory of Open Access Journals (Sweden)

    Andrade T.G. de

    2002-01-01

    Full Text Available We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltaߺ-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltaߺ-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltaߺ-thalassemia association and patient 2 is the first reported case of Sicilian type of (deltaߺ-thalassemia in association with ß-thalassemia documented at the molecular level.

  16. A Randomized Multicentre Phase II Trial Comparing Adjuvant Therapy in Patients with Interferon Alpha-2b and 5-FU Alone or in Combination with Either External Radiation Treatment and Cisplatin (CapRI) or Radiation alone regarding Event-Free Survival – CapRI-2

    International Nuclear Information System (INIS)

    The 5-year survival of patients with resected pancreatic adenocarcinoma is still unsatisfying. The ESPAC-1 and the CONKO 001 trial proofed that adjuvant chemotherapy improves 5-year survival significantly from approximately 14% to 21%. In parallel, investigators from the Virginia Mason Clinic reported a 5-year survival rate of 55% in a phase II trial evaluating a combination of adjuvant chemotherapy, immunotherapy and external beam radiation (CapRI-scheme). Two other groups confirmed in phase II trials these results to a certain extent. However, these groups reported severe gastrointestinal toxicity (up to 93% grade 3 or 4 toxicity). In a randomized controlled phase III trial, called CapRI, 110 patients were enrolled from 2004 to 2007 in Germany and Italy to check for reproducibility. Interestingly, much less gastrointestinal toxicity was observed. However, dose-reduction due to haematological side effects had to be performed in nearly all patients. First clinical results are expected for the end of 2009. CapRI-2 is an open, controlled, prospective, randomized, multicentre phase II trial with three parallel arms. A de-escalation of the CapRI-scheme will be tested in two different modifications. Patients in study arm A will be treated as outpatients with the complete CapRI-scheme consisting of cisplatin, Interferon alpha-2b and external beam radiation and three cycles of 5-fluorouracil continuous infusion. In study arm B the first de-escalation will be realised by omitting cisplatin. Next, patients in study arm C will additionally not receive external beam radiation. A total of 135 patients with pathologically confirmed R0 or R1 resected pancreatic adenocarcinoma are planned to be enrolled. Primary endpoint is the comparison of the treatment groups with respect to six-month event-free-survival. An event is defined as grade 3 or grade 4 toxicity, objective tumour recurrence, or death. The aim of this clinical trial is to evaluate de-escalation of the CapRI-scheme. It

  17. SERUM TOTAL BILIRUBIN, NOT CHOLELITHIASIS, IS INFLUENCED BY UGT1A1 POLYMORPHISM, ALPHA THALASSEMIA AND S GENOTYPE: FIRST REPORT ON COMPARISON BETWEEN ARAB-INDIAN AND AFRICAN S GENES

    Directory of Open Access Journals (Sweden)

    Said Y ALkindi

    2015-10-01

    Full Text Available Background: We explored the potential relationship between steady state serum bilirubin levels and the incidence of cholelithiasis in the context of UGT1A1 gene A(TAnTAA promoter polymorphism in Omani sickle cell anemia (SCA patients, homozygotes for African (Benin and Bantu and Arab-Indian bS haplotypes, but sharing the same microgeographical environment and comparable life style factors.   Methods: 136 SCA patients were retrospectively studied in whom imaging data including abdominal CT scan, MRI or Ultrasonography was routinely available. Available data on the mean steady state hematological/biochemical parameters (n=136,  bs haplotypes(n=136, a globin gene status (n=105 and UGT1A1 genotypes(n=133 were reviewed from the respective medical records.   Results: The mean serum total bilirubin level was significantly higher in the homozygous UGT1A1(AT7 group as compared to  UGT1A1(AT6 group. Strikingly, cholelithiasis was not influenced by age, gender, alpha globin genotype or bS haplotypes in this SCA cohort.   Conclusion: As observed in other population groups, the UGT1A1 (AT7 homozygosity was significantly associated with raised serum total bilirubin level, but the prevalence of gallstones in the Omani SCA patients was not associated with a thalassaemia, UGT1A1 polymorphism, or bs haplotypes.

  18. Bone Marrow Transplantation in Thalassemia (Part 1

    Directory of Open Access Journals (Sweden)

    Maryam Zakerinia

    2009-03-01

    Full Text Available During the last two decades conventional therapy has improvedthe prognosis of thalassemia. However, despite such improvementit still remains a progressive disease with treatment-related complicationssuch as hepatitis, liver fibrosis, and cardiac disease.Bone marrow transplantation (BMT can prevent or delay progressionof the aforementioned complications. The importance ofclinical research in the field of BMT was recognized with theaward of the 1990 Nobel Prize in Physiology and Medicine to E.Donnall Thomas, one of the pioneers of BMT in humans. GeorgeMathe' was a pioneer in the early development of clinical BMT.Mathe' et al. were the first to describe graft-versus-host-disease(GVHD and its treatment, and the graft-versus- leukemia (GVLeffect in human. The first BMT for β-thalassemia major was performedsuccessfully by Thomas et al. in Seattle, in 1981. In thesame year another patient with β-thalassemia major underwentBMT in Pesaro, Italy, by Lucarelli et al. Since then, several hundredtransplantations have been performed worldwide, the majorityof these in Italy. From 1991 through 2007 BMT have beenperformed on 497 (Tehran=342, Shiraz=155 blood transfusiondependent patients with thalassemia major in Iran, with diseasefreesurvival of 71-77% respectively. Due to high graft failureand GVHD rates, BMT from alternative donors should be restrictedto patients who have poor life expectancies because theycannot receive adequate conventional treatment or because of alloimmunizationto minor blood antigens. Beginning in the early1980s, it was shown that umbilical cord blood contained high levelsof hematopoietic progenitor cells.

  19. Plastic bronchitis in beta thalassemia minor

    OpenAIRE

    Makaresh Yadav; Sneha Tirpude; Joshi, Jyotsna M.

    2013-01-01

    Plastic bronchitis is a rare pulmonary disorder associated with various conditions like cystic fibrosis, asthma, pulmonary infection and characterized by formation and expectoration of cast which assumes the shape of the bronchial tree. We report a case of a 33-year-old woman with beta thalassemia minor who developed plastic bronchitis.

  20. Kinetic method for the determination of nanogram amounts of cadmium(II) by its catalytic effect on the complex formation of manganese(II) with. cap alpha. ,. beta. ,. gamma. , $delta-tetra-(p-sulfonatophenyl)porphine

    Energy Technology Data Exchange (ETDEWEB)

    Tabata, M. (Saga Univ. (Japan). Faculty of Science and Engineering); Tanaka, M. (Nagoya Univ. (Japan). Faculty of Science)

    1982-01-01

    Cadmium(II) accelerates the complex formation reaction of manganese(II) with ..cap alpha.., ..beta.., ..gamma.., $delta-tetra(p-sulfonatophenyl)porphine (H/sub 2/TPPS/sub 4/). Cadmium(II) concentration as low as 1O/sup -7/ mol dm/sup -3/ can be determined from the decrease in absorbance at 413 nm ($lambdasub(max) H/sub 2/TPPS/sub 4/) at a fixed time after the start of the reaction of manganese(II) with H/sub 2/TPPS/sub 4/. After the separation of lead(II) by coprecipitation of manganese(IV) oxide, the method is highly selective and is free from interference of most substances usually encountered. Sandell's sensitivity calculated from the calibration curve at 30 min after the start of the reaction is 1.43 x 10/sup -/ /sup 1/ ng cm/sup -2/.

  1. Thalassemia in Messina: a sociological approach to chronic disease

    OpenAIRE

    Silvia Carbone

    2014-01-01

    Changing the care along with improved treatment, have altered the life of thalassemia patients, one of the world’s most common genetic diseases (Thalassemia International Federation; http://www.thalassemia.org.cy). The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Improved of the new treatment of this ancient disease is essential for optimizing survival. From June 2010 to January 2011, we interviewed 36 peop...

  2. Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia

    Energy Technology Data Exchange (ETDEWEB)

    Colavita, N.; Orazi, C.; Danza, S.M.; Falappa, P.G.; Fabbri, R.

    1987-10-01

    The main skeletal abnormalities in ..beta..-thalassemia are widening of medullary spaces, rarefaction of bone trabeculae, thinning of cortical bone, and perpendicular periosteal spiculation. Premature epiphyseal fusion (PEF) and extramedullary hematopoiesis (EH) are found, though more rarely. The incidence of PEF and EH in 64 patients affected by ..beta..-thalassemia is reported. The different incidence of such complications in thalassemia major and intermedia is reported, and a possible correlation with transfusion regimen is also considered.

  3. Relationship between Personality Traits and Happiness in Patients with Thalassemia

    OpenAIRE

    Babollah Bakhshipour; Samaneh Panahiyan; Ramezan Hasanzadeh; Ahmad Tamaddoni

    2014-01-01

    Background: The aim of this study was determining the relationship between personality traits and happiness in patients with major thalassemia. Materials and Methods: The design of this study was descriptive (correlational study). The target population of this study was all under-treated patients with major thalassemia in Amirkola thalassemia center in 2011. Among these patients, 150 patients were sampled using simple random sampling method and Morgan's table. The data were analyzed by mea...

  4. The pregnancy outcome in patients with minor β-thalassemia

    OpenAIRE

    Mehran Karimi; Jamileh Jahanbakhsh; Alamtaj Samsami; Sedigheh Amooee

    2011-01-01

    Background: β-thalassemia is the most common hereditary disease in Iran and more than 2 million carriers of the β-thalassemia mutant gene are living in this country.Objective: To determine pregnancy outcome of women with β-thalassemia minor.Materials and Methods: In this retrospective, case-control study in two universities affiliated hospitals in Shiraz, all pregnancies occurred between 2006 and 2008 were included. Patients were divided in two groups regarding the presence of β-thalassemia m...

  5. Quality of life in thalassemia major: Reliability and validity of the Persian version of the SF-36 questionnaire

    Directory of Open Access Journals (Sweden)

    Jafari H

    2008-01-01

    Full Text Available Aims: The objective of this study was to determine the reliability and validity of the eight-item Short Form Health Survey (SF-36 questionnaire translated into Persian for use in Iranian patients with thalassemia major. Materials and Methods: Using a standard "forward-backward" translation procedure, the English language version of the questionnaire was translated into Persian. Two hundred patients with thalassemia major following up at the Thalassemia Center, Dastgheib Hospital, Shiraz, Iran, were enrolled in this study. Statistical Analysis: The reliability and internal consistency of the questionnaire were assessed by Cronbach′s alpha coefficient and Spearman′s correlation, respectively. Validity was assessed using convergent and discriminant validity. Results: The mean age of 200 subjects enrolled in the study was 19.81+/-4.07 years. Reliability analysis showed satisfactory results (Cronbach′s a coefficient = 0.915. The factor analysis showed that all items were in the same groups as previous studies with the exception of role emotional and general health that had been substituted. Most of the patients were in lower range of normal for both mental and physical summary status. Conclusions: The study finding showed that the Persian version of SF-36 questionnaire has a good structural characteristic and is a reliable and valid instrument for measuring the quality of life of patients with thalassemia major.

  6. Antioxidant status in beta thalassemia major: A single-center study

    Directory of Open Access Journals (Sweden)

    Faiza Waseem

    2011-01-01

    Full Text Available Background: Homozygous β thalassemia may lead to a marked reduction or absence of normal β chain production and accumulation of unpaired alpha-globin chains. A crucial component in the oxidant susceptibility of the thalassemic RBC is the release of heme and iron from the excessive, unpaired α-globin chains. This release can initiate self-amplifying redox reactions, which deplete the cellular reduction potential (e.g., GSH, oxidize additional hemoglobin and accelerate RBC destruction. Furthermore, β-thalassemia patients are under continuous blood transfusion, which, although life-saving, leads to an iron overload with a resultant increase in non-transferrin-bound iron that may cause greater tissue toxicity than iron in other forms. Iron-induced oxidative stress is known to be one of the most important factors determining cell injury in thalassemic patients. Therefore, we designed this study to obtain a comprehensive picture of the iron overload, antioxidant status and cell damage in β thalassemia major patients undergoing regular blood transfusion. Materials and Methods: A total of 48 diagnosed patients of β thalassemia major and 30 age- and sex-matched healthy subjects were included in the study. Estimation of hemoglobin, hematocrit, glutathione peroxidase (GPX, superoxide dismutase (SOD,vitamin E, serum ferritin, total and direct bilirubin, AST and ALT was carried out. Results: The levels of vitamin E, antioxidant enzymes GPX and SOD were significantly lowered in β thalassemic patients as compared with the control group (P<0.001. Serum total and direct bilirubin, AST and ALT were significantly elevated in thalassemic subjects as compared with the control group, indicating liver cell damage. Conclusion: Thus, our findings indicate that thalassemics are in a state of enhanced oxidative stress and that the administration of selective antioxidants would represent a promising approach toward counteracting oxidative damage and its deleterious

  7. Death cap

    DEFF Research Database (Denmark)

    Rudbæk, Torsten R; Kofoed, Pernille Bouteloup; Bove, Jeppe;

    2014-01-01

    Death cap (Amanita phalloides) is commonly found and is one of the five most toxic fungi in Denmark. Toxicity is due to amatoxin, and poisoning is a serious medical condition, causing organ failure with potential fatal outcome. Acknowledgement and clarification of exposure, symptomatic and focused...

  8. Fortuitous diagnosis of the association of hemoglobin J-Broussais with beta + thalassemia.

    Science.gov (United States)

    Durou, M R; Ribault, A; Dufour, M J; Gallou, G; Ruelland, A; Le Gall, E; Cloarec, L; Legras, B

    1996-01-01

    The authors report a case, not described so far in literature, of an association of HbJ-Broussais [alpha (90 (PG2) lys-->asn beta 2] with beta + thalassemia in a young girl born of Italian father and Breton mother. This association is clinically silent. Biochemistry revealed, besides HbA, the presence of HbJ-Broussais in the proportion of 19.4% and HbA2 value of 3.9%. These percentages, slightly lower than expected, are explained. A familial study is presented. PMID:9092311

  9. Phase III trial of postoperative cisplatin, interferon alpha-2b, and 5-FU combined with external radiation treatment versus 5-FU alone for patients with resected pancreatic adenocarcinoma – CapRI: study protocol [ISRCTN62866759

    Directory of Open Access Journals (Sweden)

    Schmitz-Winnenthal H

    2005-04-01

    Full Text Available Abstract After surgical intervention with curative intention in specialised centres the five-year survival of patients with carcinoma of the exocrine pancreas is only 15%. The ESPAC-1 trial showed an increased five-year survival of 21% achieved with adjuvant chemotherapy. Investigators from the Virginia Mason Clinic have reported a 5-year survival rate of 55% in a phase II trial evaluating adjuvant chemotherapy, immunotherapy and external-beam radiation. Design The CapRI study is an open, controlled, prospective, randomised multi-centre phase III trial. Patients in study arm A will be treated as outpatients with 5-Fluorouracil; Cisplatin and 3 million units Interferon alpha-2b for 5 1/2 weeks combined with external beam radiation. After chemo-radiation the patients receive continuous 5-FU infusions for two more cycles. Patients in study arm B will be treated as outpatients with intravenous bolus injections of folinic acid, followed by intravenous bolus injections of 5-FU given on 5 consecutive days every 28 days for 6 cycles. A total of 110 patients with specimen-proven R0 or R1 resected pancreatic adenocarcinoma will be enrolled. An interim analysis for patient safety reasons will be done one year after start of recruitment. Evaluation of the primary endpoint will be performed two years after the last patients' enrolment. Discussion The aim of this study is to evaluate the overall survival period attained by chemo-radiotherapy including interferon alpha 2b administration with adjuvant chemotherapy. The influence of interferon alpha on the effectiveness of the patients' chemoradiation regimen, the toxicity, the disease-free interval and the quality of life are analysed. Different factors are tested in terms of their potential role as predictive markers.

  10. Phase III trial of postoperative cisplatin, interferon alpha-2b, and 5-FU combined with external radiation treatment versus 5-FU alone for patients with resected pancreatic adenocarcinoma – CapRI: study protocol [ISRCTN62866759

    International Nuclear Information System (INIS)

    After surgical intervention with curative intention in specialised centres the five-year survival of patients with carcinoma of the exocrine pancreas is only 15%. The ESPAC-1 trial showed an increased five-year survival of 21% achieved with adjuvant chemotherapy. Investigators from the Virginia Mason Clinic have reported a 5-year survival rate of 55% in a phase II trial evaluating adjuvant chemotherapy, immunotherapy and external-beam radiation. The CapRI study is an open, controlled, prospective, randomised multi-centre phase III trial. Patients in study arm A will be treated as outpatients with 5-Fluorouracil; Cisplatin and 3 million units Interferon alpha-2b for 5 1/2 weeks combined with external beam radiation. After chemo-radiation the patients receive continuous 5-FU infusions for two more cycles. Patients in study arm B will be treated as outpatients with intravenous bolus injections of folinic acid, followed by intravenous bolus injections of 5-FU given on 5 consecutive days every 28 days for 6 cycles. A total of 110 patients with specimen-proven R0 or R1 resected pancreatic adenocarcinoma will be enrolled. An interim analysis for patient safety reasons will be done one year after start of recruitment. Evaluation of the primary endpoint will be performed two years after the last patients' enrolment. The aim of this study is to evaluate the overall survival period attained by chemo-radiotherapy including interferon alpha 2b administration with adjuvant chemotherapy. The influence of interferon alpha on the effectiveness of the patients' chemoradiation regimen, the toxicity, the disease-free interval and the quality of life are analysed. Different factors are tested in terms of their potential role as predictive markers

  11. Alloimmunization among transfusion-dependent thalassemia patients

    Directory of Open Access Journals (Sweden)

    Sadeghian Mohammad

    2009-01-01

    Full Text Available Background: Thalassemia is a common hemoglobin disorder in Iran and one of the major public health problems. Although blood transfusions are lifesavers for thalassemia patients, they may be associated with some complications especially erythrocyte alloimmunization. The purpose of this study was to investigate the prevalence of red blood cell alloantibodies and to determine types of these antibodies among multiple-transfused thalassemic patients. Materials and Methods: A total of 313 thalassemia patients in the northeast of Iran, who received regular blood transfusion, were included in this study. Screening of antibodies was performed on fresh serum of all patients and then antibodies were identified in patients′ serum that had positive antibody screening test using a panel of recognized blood group antigens. Results: We identified 12 alloantibodies in 9 patients (2.87% that all were against Rhesus (Rh blood group antigens (D, C, E. Three patients developed 2 antibodies, and others had one antibody. The most common alloantibodies were Anti-D (88.88% and followed by Anti-C and Anti-E. Higher frequency of alloimmunization was observed in female, Rh negative and splenectomized patients. Conclusion: This study showed that evaluation of the packed cells for Rh (C, E from the start of transfusion can be helpful in decreasing the rate of alloantibody synthesis.

  12. Screening for Thalassemia Carrier Status in Pregnancy and Pre-Natal Diagnosis.

    Science.gov (United States)

    Gupta, Vidit; Sharma, Pramod; Jora, Rakesh; Amandeep, Minhas; Kumar, Anjani

    2015-09-01

    This hospital-based study reports the results of antenatal screening for thalassemia in pregnant women visiting a hospital in Jodhpur, Rajasthan, India. Eighty-eight (5.9%) of 1500 women screened for thalassemia had thalassemia trait. Twenty at-risk couples were identified and two fetuses were detected to be having thalassemia major. PMID:26519723

  13. Frequency of Thalassemia in Iran and Khorasan Razavi

    Directory of Open Access Journals (Sweden)

    Gholam Hasan Khodaei

    2013-12-01

    Full Text Available Introduction: Beta-thalassemia is the most common hereditary disease in Iran. More than two million carriers of beta-thalassemia live in Iran. Since the Iranian population is a mixture of different ethnic groups, it is necessary to determine the frequency  in the different parts of the country. Materials and Methods: This descriptive study is a cross sectional study with helping by professional groups fighting diseases in Khorasan Razavi province.   Results: In Iran, according to World Health Organization, about 4 percent of the population, are carriers of the thalassemia gene. In other words, about 2-3 million people are suffering from thalassemia minor.Now, more than 18 thousand cases of thalassemia are scattered across the country in different provinces, are different. Mazandaran, Gilan, Hormozgan, Khuzestan, kohgiloyeh, Fars, Bushehr, Sistan and Baluchestan, Kerman and Isfahan, are 10 provinces with high prevalence in our country. We have 342 cases of thalassemia major in Khorasan Razavi province.   Conclusion: Prevalence  of thalassemia in our country is 3.6%  and Iran is located on the belt of thalassemia and due to a history of consanguinity, this disease has a prevalence of 0.6% among in the provinces of Khorasan Razavi.

  14. β-Thalassemia and Polycythemia vera : Targeting chronic stress erythropoiesis

    NARCIS (Netherlands)

    Crielaard, Bart J; Rivella, Stefano

    2014-01-01

    β-Thalassemia and Polycythemia vera are genetic disorders which affect the synthesis of red blood cells, also referred to as erythropoiesis. Although essentially different in clinical presentation - patients with β-thalassemia have an impairment in β-globin synthesis leading to defective erythrocyte

  15. Some endocrinal aspects of pancreas in beta thalassemia

    International Nuclear Information System (INIS)

    The study was carried out to evaluate endocrinal aspects of the pancreas in thalassemia children, ages 5 - 10 years maintained under either regular or irregular iron chelation therapy. A matched control on healthy children, was included for comparison. As regards laboratory findings, fasting and post prandial blood sugar was significantly elevated in thalassemia children than the control and serum insulin was significantly lower in the irregular iron chelation group than both in the regular one and in the control group. Most cases of diabetic thalassemia children clinically and biochemically were of irregular iron chelation and with older age. They were frequently higher transfused. There is significant rise of serum ferritin in diabetic group than in diabetic thalassemia children. In conclusion, pancreatic dysfunction can be detected in thalassemia children, but regular iron chelation can reduce its occurrence. 10 tabs

  16. Comparative evaluation of NESTROFT and RDW as screening tests for beta thalassemia trait in pregnancy

    OpenAIRE

    Pritibala Patel; Nivedita Sarda; Renu Arora; Harsha Shailesh Gaikwad

    2015-01-01

    Background: Thalassemia is the commonest inherited hemoglobinopathy. It is estimated that there are about 45 million carriers of the beta thalassemia gene and about 15000 affected infants are born every year in India, thereby contributing to about 10% of the total thalassemia babies born all over the world. Beta Thalassemia Trait (BTT) is asymptomatic while Beta Thalassemia Major (BTM) presents with severe anemia and requires lifelong blood transfusion, so emphasis must shift from treatment t...

  17. /sup 12/C(/sup 16/O,. cap alpha. )/sup 24/Mg( reaction in the energy region E/sub c. m. / = 26. 6 to 42. 9 MeV

    Energy Technology Data Exchange (ETDEWEB)

    Bechara, M.J.; Lazzarini, A.J.; Ledoux, R.J.; Cosman, A.E.R.

    1983-04-01

    The /sup 12/C+ /sup 16/O resonance structure in the /sup 28/Si nucleus is examined by means of the /sup 12/C(/sup 16/O,..cap alpha..)/sup 2r/Mg reaction excitation functions in the energy range E/sub c.m./ = 26.6 to 42.9 MeV in 430 keV steps at theta/sub lab/ = 7.5/sup 0/. We could identify 64 discrete states in /sup 24/Mg up to 31.7 MeV of excitation energy. The excitation functions show abundant structure over the entire energy range. The summed excitation functions, which tend to average out statistical fluctuations, show pronounced intermediate structure enhancement in the cross section at E/sub c.m./approx. =29.5, 32.2, and 35 MeV and indicate the presence of a smaller peak at 37.3 MeV. The widths of these structures are about 1 MeV, which is intermediate between the value expected from ion-ion potential resonances and statistical fluctuations. The nonstatistical character of these structures is reinforced by some statistical tests and by the correlations in energy and width found in several exit channels. Our data also suggest a possible structural relationship between the /sup 28/Si resonances and certain /sup 24/Mg final states.

  18. The pregnancy outcome in patients with minor β-thalassemia

    Directory of Open Access Journals (Sweden)

    Mehran Karimi

    2011-01-01

    Full Text Available Background: β-thalassemia is the most common hereditary disease in Iran and more than 2 million carriers of the β-thalassemia mutant gene are living in this country.Objective: To determine pregnancy outcome of women with β-thalassemia minor.Materials and Methods: In this retrospective, case-control study in two universities affiliated hospitals in Shiraz, all pregnancies occurred between 2006 and 2008 were included. Patients were divided in two groups regarding the presence of β-thalassemia minor. Patients in case and control groups were matched according to maternal age, gestational age and number of previous pregnancies. Cesarean delivery, hypertensive disorders, gestational diabetes mellitus, premature rupture of membranes and preterm labor were recorded in each group and were compared using the χ2 or Fisher exact tests. Results: Overall 510 β-thalassemia minor subjects and 512 healthy controls were studied. Cases with β-thalassemia minor had significantly higher prevalence of oligohydramnios (p<0.001 and cesarean section delivery (p=0.001. There was no significant difference regarding Apgar score in 1st (p=0.65 and 5th minute (p=0.25, IUGR (p=0.073, gestational diabetes mellitus (DM (p=0.443 and preeclampsia (p=0.116 between two study groups. Conclusion: β-thalassemia minor does not significantly influence the pregnancy outcome in the negative way.

  19. Intracranial Extramedullary Hematopoiesis in Beta-Thalassemia

    International Nuclear Information System (INIS)

    Extramedullary hematopoiesis (EMH) represents tumor-like proliferation of hemopoietic tissue which complicates chronic hemoglobinopathy. Intracranial EMH is an extremely rare occurrence. Magnetic resonance imaging (MRI) offers a precise diagnosis. It is essential to distinguish EMH from other extradural central nervous system tumors, because treatment and prognosis are totally different. Herein, we report the imaging findings of beta-thalassemia in a 13-year-old boy complaining of weakness of left side of the body and gait disturbance; CT and MRI revealed an extradural mass in the right temporoparietal region.

  20. Failure to replicate the internal structure of Greek-specific thalassemia quality of life instrument in adult thalassemia patients in Sabah

    OpenAIRE

    Keowmani T; Lee LWL

    2016-01-01

    Thamron Keowmani,1 Lily Wong Lee Lee21Clinical Research Centre, 2Hematology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, MalaysiaPurpose: To study the validity and reliability of the Malay version of the Specific Thalassemia Quality of Life Instrument (STQOLI) in Sabah’s adult thalassemia patients.Patients and methods: This cross-sectional study was done at Thalassemia Treatment Centre, Queen Elizabeth Hospital in Sabah, Malaysia. Eighty-two adult thalassemia patients who fulfi...

  1. Infusion of Autologous Retrodifferentiated Stem Cells into Patients with Beta-Thalassemia

    Directory of Open Access Journals (Sweden)

    Ilham Saleh Abuljadayel

    2006-01-01

    Full Text Available Beta-thalassemia is a genetic, red blood cell disorder affecting the beta-globin chain of the adult hemoglobin gene. This results in excess accumulation of unpaired alpha-chain gene products leading to reduced red blood cell life span and the development of severe anemia. Current treatment of this disease involves regular blood transfusion and adjunct chelation therapy to lower blood transfusion–induced iron overload. Fetal hemoglobin switching agents have been proposed to treat genetic blood disorders, such as sickle cell anemia and beta-thalassemia, in an effort to compensate for the dysfunctional form of the beta-globin chain in adult hemoglobin. The rationale behind this approach is to pair the excess normal alpha-globin chain with the alternative fetal gamma-chain to promote red blood cell survival and ameliorate the anemia. Reprogramming of differentiation in intact, mature, adult white blood cells in response to inclusion of monoclonal antibody CR3/43 has been described. This form of retrograde development has been termed “retrodifferentiation”, with the ability to re-express a variety of stem cell markers in a heterogeneous population of white blood cells. This form of reprogramming, or reontogeny, to a more pluripotent stem cell state ought to recapitulate early hematopoiesis and facilitate expression of a fetal and/or adult program of hemoglobin synthesis or regeneration on infusion and subsequent redifferentiation. Herein, the outcome of infusion of autologous retrodifferentiated stem cells (RSC into 21 patients with beta-thalassemia is described. Over 6 months, Infusion of 3-h autologous RSC subjected to hematopoietic-conducive conditions into patients with beta-thalassemia reduced mean blood transfusion requirement, increased mean fetal hemoglobin synthesis, and significantly lowered mean serum ferritin. This was always accompanied by an increase in mean corpuscular volume (MCV, mean corpuscular hemoglobin (MCH, and mean

  2. IRON CHELATION THERAPY IN THALASSEMIA SYNDROMES

    Directory of Open Access Journals (Sweden)

    Paolo Cianciulli

    2009-06-01

    Full Text Available Transfusional hemosiderosis is a frequent complication in patients with transfusion dependent chronic diseases such as  thalassemias and severe type of sickle cell diseases. As there are no physiological mechanisms to excrete the iron contained in transfused red cells (1 unit of blood contains approximately 200 mg of iron the excess of iron is stored in various organs. Cardiomyopathy is the most severe complication covering more than 70% of the causes of death of thalassemic patients. Although the current reference standard iron chelator deferoxamine (DFO has been used clinically for over four decades, its effectiveness is limited by a demanding therapeutic regimen that leads to poor compliance. Despite poor compliance, because of the inconvenience of subcutaneous infusion, DFO improved considerably the survival and quality of life of patients with thalassemia. Deferiprone since 1998 and Deferasirox since 2005 were licensed for clinical use. The oral chelators have a better compliance because of oral use, a comparable efficacy to DFO in iron excretion and probably a better penetration to myocardial cells. Considerable increase in iron excretion was documented with combination therapy of DFO and Deferiprone. The proper use of the three chelators will improve the prevention and treatment of iron overload, it will reduce  complications, and improve survival and quality of life of transfused patients

  3. β-Thalassemia and Polycythemia vera: targeting chronic stress erythropoiesis

    OpenAIRE

    Crielaard, Bart J.; Rivella, Stefano

    2014-01-01

    β-thalassemia and Polycythemia vera are genetic disorders which affect the synthesis of red blood cells, also referred to as erythropoiesis. Although essentially different in clinical presentation – patients with β-thalassemia have an impairment in β-globin synthesis leading to defective erythrocytes and anemia, while patients with Polycythemia vera present with high hemoglobin levels because of excessive red blood cell synthesis – both pathologies may characterized by lasting high erythropoi...

  4. Iron Metabolism in Thalassemia and Sickle Cell Disease.

    OpenAIRE

    Mariani, Raffaella; Trombini, Paola; Pozzi, Matteo; Piperno, Alberto

    2009-01-01

    There are two main mechanisms by which iron overload develops in thalassemias: increased iron absorption due to ineffective erythropoiesis and blood transfusions. In nontransfused patients with severe thalassemia, abnormal dietary iron absorption increases body iron burden between 2 and 5 g per year. If regular transfusions are required, this doubles the rate of iron accumulation leading to earlier massive iron overload and iron-related damage. Iron metabolism largely differs between thalasse...

  5. Prevalence of Alloimmunization against RBC Antigens in Thalassemia Major Patients

    OpenAIRE

    Amin Mirzaeian; Gholamhossein Tamaddon; Majid Naderi; Marziyeh Hosseinpour; Narges Sargolzaie

    2013-01-01

    Background: Regular blood transfusions to treat the patients with thalassemia major generate antibodies acting against red blood cells antigens. This immune response is called alloimmunity. This study was conducted with the purpose of determining the prevalence of alloantibodies and autoantibody, identifying the type of causative antigen, and recognizing the factors affecting alloimmunization among the patients with thalassemia major receiving blood. Materials and Methods: In this cross-secti...

  6. New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia.

    Science.gov (United States)

    D'Alcamo, Elena; Agrigento, V; Pitrolo, L; Sclafani, S; Barone, R; Calvaruso, G; Buffa, V; Maggio, A

    2016-06-01

    Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for β (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1. Sequence analysis of CDA-related genes revealed compound heterozygosity for two novel mutations in the CDAN1 gene: a frameshift mutation 3367 del 4 (TTAG) in exon 25 and a missense mutation c.1811 G>T in exon 11 causing an aminoacid change from glycine to valine at codon 565 (G565V). One of the propositus' brothers showed the same gene mutations. As the CDA1 can mimic thalassemia, a frequent misdiagnosis is possible especially in countries where the prevalence of thalassemia is high. A strong clinical suspicion in patients who do not reveal a clear genetic basis for presumed thalassemia may help clinch the correct diagnosis. PMID:27408412

  7. Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran

    International Nuclear Information System (INIS)

    Introduction: Thalassemia is the most common hereditary blood disorder in the world. Iran is located on the thalassemic belt and there is a high prevalence of the hepatosplenomegaly in beta thalassemia minor patients which is reported to be very variable. The goal of this research was to study the frequency of these signs in the cases with beta thalassemia minor patients in Iran. Materials and methods: Two hundred and fifty-nine cases that referred to center for pre-marriage tests were divided into two groups according to their MCV, MCH, and HbA2 (beta thalassemia minor cases and control groups). Liver and spleen sizes were determined by ultrasonographic method and the two groups were compared with each other. Results: Average spleen volumes in case and control groups were 163.48 ± 133.97 and 126.29 ± 53.98 mm3, respectively. Average spleen lengths in case and control groups were 10.71 ± 1.52 and 10.60 ± 5.4 cm, respectively. Conclusion: In the regions with high frequency of beta thalassemia, in case of finding large spleen size in the ultrasonography, a probable harmless differential diagnosis will be beta thalassemia minor that is not indicative of any serious disease. Volumetric measurement of spleen is more reliable for detection of splenomegaly in these patients

  8. Synthesis of tritiated 1-alpha-methadol and 1-alpha-acetylmethadol

    Energy Technology Data Exchange (ETDEWEB)

    Thang, D.C.; Nam, N.H.; Pontikis, R. (Institut National de la Sante et de la Recherche Medicale (INSERM), Hopital Fernand Widal, 75 - Paris (France)); Pichat, L. (CEA Centre d' Etudes Nucleaires de Saclay, 91 - Gif-sur-Yvette (France). Service des Molecules Marquees)

    1982-04-01

    dl-Methadone was resolved by crystallization of its ammonium d- ..cap alpha.. -bromocamphor-..pi..-sulfonate salt to give d-methadone. The latter in ethyl acetate solution was reduced with tritium gas to 1-..cap alpha..-methadol /sup 3/H in presence of Adams platinum oxide at normal temperature and pressure. Acetylation of 1-..cap alpha..-carbinol hydrochloride by means of acetyl chloride afforded 1-..cap alpha..-acetylmethadol /sup 3/H, specific activity: 20 Ci/mMole. The positions and extent of tritium labelling were determined by /sup 3/H NMR spectroscopy.

  9. Pain in thalassemia - an emerging complication

    Directory of Open Access Journals (Sweden)

    P.J. Giardina

    2011-12-01

    Full Text Available Many thalassemia subjects both transfused Major (TM and nontransfused Intermedia (TI suffer from longstanding bone disease, reduced or low bone mass (osteopenia or osteoporosis, fractures and bone pain. Unexpected musculoskeletal disease occurs despite longstanding hypertransfusion and new iron chelation strategies. Conditions which have been implicated in its pathogenesis include the massive ineffective erythropoiesis, chronic hypoxia associated with anemia, the local metabolic dysfunction from hemochromatosis, iron chelation toxicity, trace mineral deficiencies such as zinc deficiency, low vitamin D concentrations, the effect of endocrine dysfunction such as hypoparathyroidism, hypogonadism and growth hormone deficiency from hemochromatosis and the chronic inflammatory state induced by iron excess. The pathogenesis of bone disease has been attributed to the underlying marrow expansion of medullary bone caused by the massive ineffective erythropoiesis and subsequent cortical thinning. The process of normal bone health is maintained by a metabolic interplay of several hormonal factors including growth hormone, estrogen, testosterone, parathyroid hormone all of which can be diminished by iron overload in Thalassemia. Trace metals and vitamins including calcium, copper, zinc or vitamin C can also be deficient from iron excess or iron chelation which are also important contributors to bone metabolism. Indeed toxicities of iron chelation itself on bone development in the growing child associated with zinc deficiency, high Deferoxamine dosing and low iron burdens or the collagenous joint disease associated with deferiprone chelation have further contributed to the current musculoskeletal disease of Thalassemias. Decreased spinal height, vertebral flattening and scoliosis have also been reported. Magnetic Resonance Imaging (MRI of adolescent and adult β Thalassemia Major and Intermedia patients with osteoporosis and pain have assisted in defining the

  10. Prevalence and specificities of red cell alloantibodies in transfusion-dependent beta thalassemia patients in Yazd

    OpenAIRE

    Vaziri, M.; JavadzadehShahshahani, H; Moghaddam, M.; Taghvaee, N

    2015-01-01

    Background Multiple transfusions in thalassemia patients may lead to antibody production against blood group antigens and hemolytic transfusion reaction might occur. In this study, antibody screening test was performed by tube and gel methods to determine the prevalence and specificity of alloantibodies in thalassemia patients. Materials and Methods In this cross-sectional study, overall of 100 thalassemia patients from Yazd thalassemia clinic were recruited from July to September 2013. Two b...

  11. Helium precipitation in. cap alpha. -Fe

    Energy Technology Data Exchange (ETDEWEB)

    Caspers, L.M.; van Veen, A.; Ypma, M.R.; van der Kolk, G.J. (Interuniversitair Reactor Inst., Delft (Netherlands))

    1982-03-16

    The filling of a vacancy with helium atoms is studied with a programme simulating the relaxation of lattice atoms around the complex. Three filling modes are described. Helium filled V/sub 2/, V/sub 3/, and V/sub 4/ complexes are also considered and the energetics of the mutation reactions of He/sub n/V ..-->.. He/sub m>n/V/sub 2/ ..-->.. He/sub p>m/V/sub 3/ ..-->.. He/sub q>p/V/sub 4/ is studied. It is shown that these mutation reactions are more probable when the emitted interstitials remain bound to the mutation products. The He/sub n/V/sub m/I/sub p/ complexes thus formed are stable against reduction, in agreement with experiments. Also the formation of these complexes could explain why helium precipitation proceeds in a two-dimensional way as observed by TEM. The general trend found in helium desorption measurements viz. a decrease in helium binding energy until some 6 to 10 He atoms are trapped and thereafter an increase in binding energy is also found in this computer simulation study.

  12. Decrease of Hepatitis C Burden in Patients With Transfusion Dependent Beta Thalassemia Major, Thalassemia Research Center, 1995 – 2014

    Directory of Open Access Journals (Sweden)

    Mehrnoush Kosaryan

    2015-07-01

    Full Text Available Background: Chronic hepatitis C infection used to be one of the most important burdens on patients with transfusion-dependent beta thalassemia major (TDTM. Chronic active hepatitis reduces quality of life, and liver cirrhosis and cancer shorten life expectancy in many cases. Objectives: We compared the characteristics of our patients at the Thalassemia Research Center (TRC regarding hepatitis C infection at two time points. Patients and Methods: A review was conducted in a cohort of 390 TDTM patients with a history of at least one blood transfusion in 2014. Type of treatment protocol for hepatitis C virus (HCV and the number of courses were defined. Descriptive statistics were performed using SPSS software (V16. Results: Screening for HCV started in 1995 at the TRC. Seventy-seven (15% patients were antibody-positive in 1995. Tests for virus detection were not available at the time. Patients have been examined using serum AST, ALT, bilirubin, PT, PTT, and liver biopsy, and 45 were treated using alpha interferon alone. A second liver biopsy was performed at the end of treatment for 21 patients, and a blinded pathologist compared the histology according to the Knodell score. According to normalization of liver enzymes, the treatment was successful (McNemar test, P < 0.02. Based on the Knodell score, 54%, 31%, and 11% had complete, partial, and no response, respectively. A quantitative test for viremia became available thereafter. Thirteen patients who were resistant to alpha interferon have been treated using “Pegasys”™ ± ribavirin. Ten patients responded; however, three have been resistant and are still viremic. Twenty-seven patients received no treatment. Twenty-two (81.4% had negative PCR tests. Five viremic patients refused treatment. A second screening test for HCV antibody was introduced in 2001, and, since then, annual screening for HCV antibody has been performed for all patients. No new case has been found since 2001. During the

  13. Risk Factors to Growth Retardation in Major Thalassemia

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    Riva Uda

    2011-03-01

    Full Text Available The increasing in the life span of patients with major thalassemia should be followed by increased quality of life. There are factors which can affect growth retardation in these patients. The aim of this study was to find out the risk factors for growth retardation in patients with major thalassemia. An analytical study with cross-sectional design was conducted at Pediatric Thalassemia Clinics of Dr.Hasan Sadikin Hospital, Bandung, in June to July 2006. The subjects of this study were patients with major thalassemia. Inclusion criteria’s were age under 14 years old, had no chronic diseases like tuberculosis, cerebral palsy with complete medical records. Risk factors were the timing of diagnosis, initial and dose of deferoxamine, volume of transfused blood, mean pretransfusion hemoglobin level, family income, and age. Antropometric measurement indices were used to assess the growth which expressed in Z score. Growth evaluated based on height/age (H/A and growth retardation if H/A <-2 SD. Risk factors for growth retardation were analyzed separately using chi-square test and odds ratio (OR with 95% confidence interval (CI. Then they were analyzed simultaneously with logistic regression method. Subjects consisted of 152 patients with major thalassemia. Seventy three thalassemia patients were stunted. Analysis showed that age (OR: 5.42, 95% CI:2.32–12.65, p <0.001, dosage of deferoxamine (OR: 4.0, 95% CI: 1.29–12.41, p: 0.016, and family income (OR: 2.32, 95% CI: 1.06–5.06, p: 0.036 were risks factors for growth retardation. Conclusion, risk factors for growth retardation in major thalassemia are age, dosage of deferoxamine, and family income.

  14. Identification of three rare beta-thalassemia mutations in the Pakistani population.

    Science.gov (United States)

    Khan, S N; Riazuddin, S; Galanello, R

    2000-02-01

    Three rare beta-thalassemia mutations, not reported previously in Asian Indians or the Pakistani population, were identified by single strand conformation polymorphism analysis followed by direct sequencing. Two mutations, IVS-II-848 (C-->A) and initiation codon (ATG-->ACG), were found in the homozygous condition in patients belonging to Balochi and Sindhi ethnic groups of Pakistan, together with heterozygous and homozygous alpha(-3.7) deletions, respectively. A frameshift mutation at codon 44 (-C) was identified in a patient belonging to the Gujrati ethnic group together with IVS-I-1 (G-->T) and a normal complement of four a-globin genes. Haplotype analysis was performed to identify the chromosomal background associated with these mutations, and for tracing the origin and spread of these mutations. PMID:10722111

  15. Pathogenetic aspects of immune deficiency associated with beta-thalassemia.

    Science.gov (United States)

    Farmakis, Dimitrios; Giakoumis, Anastasios; Polymeropoulos, Evaggelos; Aessopos, Athanasios

    2003-01-01

    Infectious complications constitute the second most common cause of mortality and a main cause of morbidity in beta-thalassemia. Besides the high risk of blood-borne infections associated with multiple transfusions, the increased susceptibility of these patients to infectious diseases has been attributed to a coexistent immune deficiency. Immune abnormalities have also been held responsible for the frequent occurrence of malignancies in beta-thalassemia, especially leukemia and lymphomas. Recent studies on immune competence in beta-thalassemia have revealed numerous quantitative and functional defects, involving T and B lymphocytes, immunoglobulin production, neutrophils and macrophages, chemotaxis, and phagocytosis, as well as the complement system. Regarding pathogenesis, iron overload, a primary complication of both thalassemia itself and transfusion therapy, is thought to be the main precipitating mechanism, due to the important immunoregulatory properties of iron and its binding proteins; iron excess may derange the immune balance in favor of the growth of infectious organisms. Other factors include multiple transfusions, associated with constant allo-antigenic stimulation, as well as with transmission of immunosuppressive viruses; splenectomy, resulting in increased susceptibility to infections by encapsulated bacteria and to immune system modifications; low levels of zinc, another immune regulator; iron chelation therapy, which predisposes to serious infections by yersinia species; and the circulation of abnormal native thalassemic erythrocytes, forming another permanent immune stimulus. Thus surveillance for infections in patients with beta-thalassemia is crucial, while further studies are warranted on immune function abnormalities and the implicated mechanisms. PMID:12552254

  16. GENETIC FACTORS INFLUENCING HEMOGLOBIN F LEVEL IN β-THALASSEMIA/HB E DISEASE.

    Science.gov (United States)

    Ruangrai, Waraporn; Jindadamrongwech, Sumalee

    2016-01-01

    Genetic factors influencing Hb F content in adult red blood cells include β-thalassemia genotypes, co-inheritance of α-thalassemia traits and single nucleotide polymorphisms (SNPs). Genotyping of α- and β-thalassemia and five SNPs in β-globin gene cluster previously identified in genome-wide association studies as being markers of elevated Hb F in β-thalassemia were performed in 81 subjects diagnosed with β-thalassemia/Hb E. Hb F levels are higher (0.9-7.1 g/dl) in subjects (n = 57) with the severe compared to mild β-thalassemia (0.8-2.5 g/ dl) (n = 4) genotypes, and are similarly low (0.7-3.5 g/dl) in those (n = 15) with α-thalassemia co-inheritance. Hb F levels in non-thalassemia controls (n = 150) range from 0 to 0.15 g/dl. The presence of homozygous minor alleles of the 5 SNPs are significant indicators of β-thalassemia/Hb E individuals with high Hb F (> 4 g/dl), independent of their thalassemia genotypes. Given that re-activation of γ-globin genes leads to amelioration of β-thalassemia severity, understanding how genetic factors up-regulate Hb F production may lead to possible therapeutic interventions, genetically or pharmacologically, of this debilitating disease in the not too distant future. PMID:27086429

  17. Thalassemia 2016: Modern medicine battles an ancient disease.

    Science.gov (United States)

    Rund, Deborah

    2016-01-01

    Thalassemia was first clinically described nearly a century ago and treatment of this widespread genetic disease has greatly advanced during this period. DNA-based diagnosis elucidated the molecular basis of the disease and clarified the variable clinical picture. It also paved the way for modern methods of carrier identification and prevention via DNA-based prenatal diagnosis. Every aspect of supportive care, including safer blood supply, more regular transfusions, specific monitoring of iron overload, parenteral and oral chelation, and other therapies, has prolonged life and improved the quality of life of these patients. Significant advances have also been made in allogenic bone marrow transplantation, the only curative therapy. Recently, there has been a rejuvenated interest in studying thalassemia at the basic science level, leading to the discovery of previously unknown mechanisms leading to anemia and enabling the development of novel therapies. These will potentially improve the treatment of, and possibly cure the disease. Pathways involving activin receptors, heat shock proteins, JAK2 inhibitors and macrophage targeted therapy, among others, are being studied or are currently in clinical trials for treating thalassemia. Novel types of genetic therapies are in use or under investigation. In addition to the challenges of treating each individual patient, the longer survival of thalassemia patients has raised considerations regarding worldwide control of thalassemia, since prevention is not universally implemented. This review will trace a number of the original medical milestones of thalassemia diagnosis and treatment, as well as some of the most recent developments which may lead to innovative therapeutic modalities. PMID:26537527

  18. Refractive errors and ocular biometry components in thalassemia major patients.

    Science.gov (United States)

    Heydarian, Samira; Jafari, Reza; Karami, Hosein

    2016-04-01

    The aim of this study is to determine and compare biometric and refractive characteristics of thalassemia major patients and normal individuals. In this cross-sectional study, 54 thalassemia major patients were selected randomly as case group, and 54 age- and sex-matched healthy subjects were regarded as control group. Refractive errors, corneal curvature and ocular components were measured by autokeratorefractometery and A-scan ultrasonography, respectively. Mean spherical equivalent was -0.0093 ± 0.86 D in thalassemia patients and -0.22 ± 1.33 D in the normal group. The prevalence of myopia, Hyperopia, and emmetropia among thalassemia patients was 16.7, 19.4, and 63.9 %, respectively. While in the control group, 26.9 % were myopic, 25 % were hyperopic, and 48.1 % were emmetropic. The prevalence of astigmatism in case group was 22.2 %, which was not significantly different from that in control group, (27.8 %, p = 0.346). Mean axial length in thalassemia patients was 22.89 ± 0.70 which was significantly lower than that in normal group (23.37 ± 0.91, p = 0.000). The flattest meridian of the cornea (R1) was significantly steeper in thalassemia patients (7.77 ± 0.24) in comparison to normal individuals (7.85 ± 0.28). Although thalassemic patients had significantly smaller axial length and vitreous chamber depth in comparison to normal group, which could be due to their abnormal physical growth, there was no significant difference between the mean of spherical equivalent among two groups. This can be due to their steeper corneal curvature that overcomes the refractive disadvantage of their shorter axial length. PMID:26646775

  19. Variable Clinical Phenotypes of α-Thalassemia Syndromes

    Directory of Open Access Journals (Sweden)

    Sylvia Titi Singer

    2009-01-01

    Full Text Available Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other α-thalassemia variants call for more attention for improved screening methods and better care.

  20. Xmni polymorphism and disease severity in patients with beta thalassemia from northern Pakistan

    International Nuclear Information System (INIS)

    Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with ?-thalassemia from northern Pakistan. Methods: The cross sectional study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi, from September 2006 to June 2009. A total of 90 subjects including 30 with thalassemia major, 30 with thalassemia intermedia and 30 normal individuals were studied. DNA from each subject was tested for 15 ?-thalassemia mutations and the presence of XmnI polymorphism using Amplification Refractory Mutation System and Restriction Fragment Length Polymorphism respectively. Results: One normal and one thalassemia major subject were found to be positive for homozygous and heterozygous XmnI polymorphism respectively. Among the thalassemia intermedia group, XmnI polymorphism was found in 12/30 patients, of whom 10 were homozygous and 2 were heterozygous for it. Conclusion: XmnI polymorphism is an important genotypic factor in Pakistani population for making a prospective diagnosis of thalassemia intermedia and predicting the severity of the disease. (author)

  1. Laboratory on thalassemia which is a public health problem

    Directory of Open Access Journals (Sweden)

    Çiğdem Sönmez

    2014-12-01

    a technique which has critical importance, it assists to make families have healthy children. In this review it is evaluated that in thalassemia what are the old and new laboratory parameters that are used in discrimination of iron deficiency anemia and other anemias; besides how they are used.

  2. Relationship between Personality Traits and Happiness in Patients with Thalassemia

    Directory of Open Access Journals (Sweden)

    Babollah Bakhshipour

    2014-12-01

    Full Text Available Background: The aim of this study was determining the relationship between personality traits and happiness in patients with major thalassemia. Materials and Methods: The design of this study was descriptive (correlational study. The target population of this study was all under-treated patients with major thalassemia in Amirkola thalassemia center in 2011. Among these patients, 150 patients were sampled using simple random sampling method and Morgan's table. The data were analyzed by means of calculating Pearson correlation coefficients and multiple linear regression analysis. The patients were asked to complete NEO-five factor Inventory (short form and Oxford happiness inventory. Results: Based on the results, the coefficient of regression analysis of NEO personality factors (big five and happiness was 0.45, which shows a linear relationship between personality factors of NEO and happiness in patients with thalassemia. Thus, there is a statistically significant relationship among personality traits (neuroticism, extroversion, openness, agreeableness, conscientiousness and happiness. Conclusion: Among personality traits, extroversion, flexibility, agreeableness and conscientiousness had positive statistically meaningful relationship with happiness i.e. patients with lower scores in neuroticism, were happier.

  3. Study of glycolytic intermediates in hereditary elliptocytosis with thalassemia

    Directory of Open Access Journals (Sweden)

    Pavri Roshan

    1977-01-01

    Full Text Available Glycolytic intermediates like ATP, DPG and GSH have been studied in a family with. hereditary elliptocytosis and thalassemia. Results indicate a fall in ATP with a concomitant rise in DPG in the Patient. Findings are discussed in relation to other data.

  4. Recent trends in the gene therapy of β-thalassemia

    Directory of Open Access Journals (Sweden)

    Finotti A

    2015-02-01

    Full Text Available Alessia Finotti,1–3 Laura Breda,4 Carsten W Lederer,6,7 Nicoletta Bianchi,1–3 Cristina Zuccato,1–3 Marina Kleanthous,6,7 Stefano Rivella,4,5 Roberto Gambari1–3 1Laboratory for the Development of Gene and Pharmacogenomic Therapy of Thalassaemia, Biotechnology Centre of Ferrara University, Ferrara, Italy; 2Associazione Veneta per la Lotta alla Talassemia, Rovigo, Italy; 3Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy; 4Department of Pediatrics, Division of Haematology/Oncology, Weill Cornell Medical College, New York, NY, USA; 5Department of Cell and Development Biology, Weill Cornell Medical College, New York, NY, USA; 6Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 7Cyprus School of Molecular Medicine, Nicosia, Cyprus Abstract: The β-thalassemias are a group of hereditary hematological diseases caused by over 300 mutations of the adult β-globin gene. Together with sickle cell anemia, thalassemia syndromes are among the most impactful diseases in developing countries, in which the lack of genetic counseling and prenatal diagnosis have contributed to the maintenance of a very high frequency of these genetic diseases in the population. Gene therapy for β-thalassemia has recently seen steadily accelerating progress and has reached a crossroads in its development. Presently, data from past and ongoing clinical trials guide the design of further clinical and preclinical studies based on gene augmentation, while fundamental insights into globin switching and new technology developments have inspired the investigation of novel gene-therapy approaches. Moreover, human erythropoietic stem cells from β-thalassemia patients have been the cellular targets of choice to date whereas future gene-therapy studies might increasingly draw on induced pluripotent stem cells. Herein, we summarize the most

  5. Factors associated with psychiatric disorders that experience individuals with thalassemia

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos

    2013-04-01

    Full Text Available Thalassemia is an inherited blood disorder characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable health problems. The chronicity and the nature of the disease impose significant limitations on individuals' life and as a result they frequently experience anxiety and depression. Aim: The aim of the present study was to review the literature about factors associated with psychiatric disorders that experience patients with thalassemia. Method: The method of this study included bibliographic research of the literature from reviews and researches, mainly in the PubMed data base, which referred to the factors associated with psychiatric disorders in patients with thalassaemia. PubMed was searched using the following key search terms: "anxiety", "depression", "thalassaemia" while the research covered the period 1996-2011. Results: Though the developments in the treatment and prognosis of thalassemia have dramatically altered the approach to the care of patients, however the psychological aspects of the disease have received little attention since the number of relevant studies are generally limited. According to the literature, patients with thalassemia frequently experience psychiatric disorders (anxiety and depression due to various reasons, out of which the main are the chronicity of disease, the disease complications, the financial, social and personal problems, the lack of family and social support, the change in body image and the reduction of self-esteem level. Symptoms of anxiety and depression may influence negatively the outcome of the disease including low adherence to treatment, increased morbidity and poor quality of life. Conclusions: A regular screening for anxiety and depression symptoms and identification of individuals at high risk should be an integral part of medical therapy. Early screening implies early treatment and provides valuable information for the planning of intervention programs

  6. A successful twin pregnancy in a patient with HbE-β-thalassemia in western India

    OpenAIRE

    R Merchant; K Italia; Ahmed, J.; Ghosh, K.; Colah, R.B.

    2015-01-01

    Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE)-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV)-positive, conceived...

  7. Coincidence of Niemann-Pick Disease and Beta-Thalassemia; a Case Report

    OpenAIRE

    Fatemeh Farahmand; Vajiheh Modaresi; Mina Izadyar; Fatemeh Mahjob

    2010-01-01

    Background: Niemann-Pick disease and β-thalassemia are distinct conditions with specific clinical and morphological manifestations. β-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country.Case Presentation: This 5-month old girl, a known case of β-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance tha...

  8. A new donor system for the patients with thalassemia: "Blood mother and blood father"

    OpenAIRE

    Canatan Duran; Ozsancak Ahmet

    2010-01-01

    Background : Donor recruitment programs differ in countries depending on local conditions and causes. Regularly voluntary blood donation rate should be 5% of the population but it is extremely low in Turkey. In 1998, "Thalassemia flowers don′t fade" campaigning was started to get regular voluntary blood for patients with thalassemia. We would like to present results of our campaigning. Materials and Methods: The Thalassemia center was established in Antalya on the 1 st June 1994...

  9. Insulin-like growth factor-1 levels in children with Beta-thalassemia minor

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    Mehran Karimi

    2008-09-01

    Full Text Available Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH / insulin growth factor-1 (IGF-1 axis, undernutrition and hypermetabolism. It has also been proven that growth retardation is present in b-thalassemia major children despite regular transfusion and chelation. Our aim was to evaluate the level of IGF-1 in b-thalassemia minor subjects and compare it with that in healthy children. Material and Methods: Fifty children aged 6 months to 15 years with b-thalassemia minor (32 males, 18 females and 50 age- and sex-matched normal healthy children were selected. Medical history was taken and complete physical examination was done in each case; IGF-1 level was checked in all cases. This study was done in Shiraz, southern Iran, during 2005.Results: IGF-1 levels were significantly lower in b-thalassemia minor children than normal children (P = 0.015. This result demonstrates that some etiologies of growth failure in b-thalassemia major other than those described to date can exist, which may be shared with b-thalassemia minor in feature or may be transformed by genes that are either expressed or not.Conclusion: We conclude that in addition to that observed in b-thalassemia major, IGF-1 level is also decreased in b-thalassemia minor, and these two may have similar etiologies.

  10. Screening and genetic diagnosis of childhood thalassemia in Sanya city%三亚市儿童地中海贫血筛查及基因分析

    Institute of Scientific and Technical Information of China (English)

    陈爱华; 陈垂海; 陈求珠; 周祥敏; 陈垂婉; 陈垂任; 霍开明

    2015-01-01

    ObjectiveTo investigate the incidence and gene mutation spectrum of childhood thalassemia in Sanya city. MethodsThere were 938 children in our hospital screened by routine blood test, C-reactive protein test and hemoglobinelectro-phoresis. Based on the screening results in children with thalassemia and its subtypes, the alpha thalassaemia children were diag-nosed by gap - polymerase chain reaction, while the beta thalassaemia ones were diagnosed by polymerase chain reaction-reverse dot blot, and all the results were retrospectively analyzed.ResultsScreening positive rate of thalassemia anemia was 13.65% (128/938), genetic diagnosis positive rate was 11.41% (107/938). In 107 cases diagnosed with thalassemia by genetic test, 59 were alpha thalassaemia, and 46 were beta thalassaemia, and 2 cases were alpha thalassaemia combined with beta thalassaemia. In 59 cases of alpha thalassaemia, 31 had genotype of - SEA/alpha alpha , 13 cases with genotype alpha 4.2 / alpha alpha, and 6 were of HbH disease. In the 46 cases of beta thalassaemia children, six gene locus mutations were found : CD41-42 (CTTT) in 21 cases, TATAbox - 28 (A - G) in 13 cases, CDs14/15 (G) in 5 cases, IVS - Int 654 (C - > T) in 4 cases, CD17 (A - > T) in 2 cases, and 27-28 (C) in 1 case.ConclusionHigh prevalence of thalassemia in children from Sanya city warrants genetic counseling, premarital check-up and prenatal diagnosis.%目的:调查三亚市儿童地中海贫血的发病率和基因突变类型。方法对938例儿童进行血常规、CRP检测和血红蛋白电泳试验,筛查地中海贫血发生情况及其所属类型;对α-地中海贫血患儿用gap-PCR法、β-地中海贫血患儿用PCR-RDB法进行基因诊断。结果地中海贫血筛查阳性率为13.65%(128/938),基因诊断阳性率为11.41%(107/938)。在107例经基因诊断确诊为地中海贫血的患儿中,α-地中海贫血59例,β-地中海贫血46例,α合并β地中海贫血2例。59例α-地中海

  11. Microtubule's conformational cap

    DEFF Research Database (Denmark)

    Chretien, D.; Janosi, I.; Taveau, J.C.;

    1999-01-01

    The molecular mechanisms that allow elongation of the unstable microtubule lattice remain unclear. It is usually thought that the GDP-liganded tubulin lattice is capped by a small layer of GTP- or GDP-P(i)-liganded molecules, the so called "GTP-cap". Here, we point-out that the elastic properties...

  12. alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

    Directory of Open Access Journals (Sweden)

    M.R.S.C. Wenning

    2000-09-01

    Full Text Available Seven unrelated patients with hemoglobin (Hb H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil. The -alpha3.7, --MED and -(alpha20.5 deletions were investigated by PCR, whereas non-deletional alpha-thalassemia (alphaHphalpha, alphaNcoIalpha, aaNcoI, alphaIcalpha and alphaTSaudialpha was screened with restriction enzymes and by nested PCR. Structural alterations were identified by direct DNA sequencing. Of the seven patients with Hb H disease, all of Italian descent, two had the -(alpha20.5/-alpha3.7 genotype, one had the --MED/-alpha3.7 genotype, one had the --MED/alphaHphalpha genotype and three showed interaction of the -alpha3.7 deletion with an unusual, unidentified form of non-deletional alpha-thalassemia [-alpha3.7/(aaT]. Among the 27 patients with structural alterations, 15 (of Italian descent had Hb Hasharon (alpha47Asp->His associated with the -alpha3.7 deletion, 4 (of Italian descent were heterozygous for Hb J-Rovigo (alpha53Ala->Asp, 4 (3 Blacks and 1 Caucasian were heterozygous for Hb Stanleyville-II (alpha78Asn->Lys associated with the alpha+-thalassemia, 1 (Black was heterozygous for Hb G-Pest (alpha74Asp->Asn, 1 (Caucasian was heterozygous for Hb Kurosaki (alpha7Lys->Glu, 1 (Caucasian was heterozygous for Hb Westmead (alpha122His->Gln, and 1 (Caucasian was the carrier of a novel silent variant (Hb Campinas, alpha26Ala->Val. Most of the mutations found reflected the Mediterranean and African origins of the population. Hbs G-Pest and Kurosaki, very rare, and Hb Westmead, common in southern China, were initially described in individuals of ethnic origin differing from those of the carriers reported in the present study and are the first cases to be reported in the Brazilian population.

  13. The effect of family-centered empowerment model on quality of life of school–aged children with thalassemia major

    OpenAIRE

    Borhani, Fariba; Najafi, Maral Kargar; Rabori, Eshaq Dortaj; Sabzevari, Sakkineh

    2011-01-01

    BACKGROUND: Chronic nature of thalassemia causes changes in different aspects of life in patients, including their quality of life. Because of the important role of family in caring for children with thalassemia, this study was done to evaluate the effect of family-centered empowerment model on quality of life of the children aged 6-12 years with thalassemia in Kerman Thalassemia Center. METHODS: The present experimental study was carried out on 86 thalassemic children aged 6-12 years who wer...

  14. Secondary haemochromatosis in a patient with thalassemia intermedia.

    Science.gov (United States)

    Rotaru, Ionela; Gaman, Amelia; Gaman, G

    2014-01-01

    Haemochromatosis is due to excessive accumulation of iron in tissues and organs impairing their function. The most common haematologic disorders that are subject to an intensive transfusion regimen bringing excess iron in the body are: thalassemia and myelodysplastic syndrome. The value of serum ferritin in these patients (indicator of iron stores condition) reaches high values. Red cell substitution bringing additional iron intake must be accompanied by administration of chelation therapy in order to prevent haemochromatosis and related complications. We present the case of a patient with thalassemia intermedia, integumentary secondary haemochromatosis, cirrhosis with haemochromatosis, and secondary diabetes, who died at the age of 33 years because of upper gastrointestinal bleeding due to the rupture of oesophageal varices. PMID:24791210

  15. Thermogravimetric analysis coupled with chemometrics as a powerful predictive tool for ß-thalassemia screening.

    Science.gov (United States)

    Risoluti, Roberta; Materazzi, Stefano; Sorrentino, Francesco; Maffei, Laura; Caprari, Patrizia

    2016-10-01

    β-Thalassemia is a hemoglobin genetic disorder characterized by the absence or reduced β-globin chain synthesis, one of the constituents of the adult hemoglobin tetramer. In this study the possibility of using thermogravimetric analysis (TGA) followed by chemometrics as a new approach for β-thalassemia detection is proposed. Blood samples from patients with β-thalassemia were analyzed by the TG7 thermobalance and the resulting curves were compared to those typical of healthy individuals. Principal Component Analysis (PCA) was used to evaluate the correlation between the hematological parameters and the thermogravimetric results. The thermogravimetric profiles of blood samples from β-thalassemia patients were clearly distinct from those of healthy individuals as result of the different quantities of water content and corpuscular fraction. The hematological overview showed significant decreases in the values of red blood cell indices and an increase in red cell distribution width value in thalassemia subjects when compared with those of healthy subjects. The implementation of a predictive model based on Partial Least Square Discriminant Analysis (PLS-DA) for β-thalassemia diagnosis, was performed and validated. This model permitted the discrimination of anemic patients and healthy individuals and was able to detect thalassemia in clinically heterogeneous patients as in the presence of δβ-thalassemia and β-thalassemia combined with Hb Lepore. TGA and Chemometrics are capable of predicting ß-thalassemia syndromes using only a few microliters of blood without any pretreatment and with an hour of analysis time. A fast, rapid and cost-effective diagnostic tool for the β-thalassemia screening is proposed. PMID:27474327

  16. Chorionic Villus Sampling Complications in Prenatal Diagnosis of Thalassemia Major

    OpenAIRE

    R Monzavi Sani; F Savadkuhi; Z Rohani

    2010-01-01

    Background/Objective: Early diagnosis of thalassemia with chorionic villus sampling has an important role in fetal evaluation. Because of the increasing risk of fetal loss and other probable risks, it seems there are some considerations about the safety of this method. Since different studies have mentioned variable complications of this method for the mother and her fetus and also the fact that this information is limited in most areas of our country, this study was performed to compare the ...

  17. Molecular Aspects of Bone Resorption in β-Thalassemia Major

    OpenAIRE

    Najmaldin Saki; Saeid Abroun; Fatemeh Salari; Fakher Rahim; Mohammad Shahjahani; Javad Mohammadi-Asl

    2016-01-01

    β-thalassemia is the most common single gene disorder worldwide, in which hemoglobin β-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods; however treatment related complications have also increased. The most common side effect is osteoporosis, which usually occurs in early adulthood as a consequence of increased bone resorption. Increased bone resorption mainly results from factors such as delayed puberty, ...

  18. TT Virus Infection in Transfusion-Dependent Thalassemia Patients

    Directory of Open Access Journals (Sweden)

    Viroj Wiwanitkit

    2008-02-01

    Full Text Available Viral hepatitis is an important public health threat for millions of people all over the world. Recently, some hepatitis viruses are detected. Hepatitis TT virus (TTV is an unenveloped virus with a single-stranded, circular DNA genome of 3,818-3,853 nucleotides (nt that infects humans and non-human primates (1. Recent reports indicate that TTV can be transmitted via blood/blood products (2. There are some previous reports on the prevalence of TTV-DNA among blood donors. The purpose of this study was to summarize the prevalence of TTV-DNA among transfusion-dependent thalassemia patients in the previous reports.This study was designed as a descriptive retrospective study. A literature review on the papers concerning the prevalence of TTV-DNA among transfusion-dependent thalassemia patients was performed. The author performed the literature review to find the report of the prevalence of TTV-DNA from database of the published works cited in the Index Medicus and Science Citation Index. The published works till August 2004 were reviewed. The reports without complete data, those not focusing on the transfusion-dependent thalassemia patients and those in a language other than English, were excluded and 4 literatures (3-6 were finally recruited. Of 290 documented transfusion-dependent thalassemia patients, there were 147 cases with TTV-DNA positivity. The summative percentage for TTV-DNA positivity was 50.7%. There is no significant association between the ethnicity of the donors and the TTV-DNA positivity (P>0.05. According to this study, the HGV infection seems to show no preference for a special ethnicity, implying the global importance of this hepatitis virus infection. The prevalence of TTV in multi-transfused thalassemics is more than that of blood donors (7, 8, implying the higher risk among the patients receiving blood transfusions.

  19. Non-transfusion dependent thalassemia: translating evidence to guidelines

    Directory of Open Access Journals (Sweden)

    Afif R. Harb

    2014-12-01

    Full Text Available The thalassemias are a group of inherited disorders of hemoglobin synthesis characterized by various degrees of defective production of the α- or β-globin chains of adult hemoglobin A. Non-transfusion- dependent thalassemia (NTDT includes a group of thalassemia patients who do not require regular RBC transfusions for survival, but may require occasional transfusions due to infection or pregnancy or may require more regular transfusions later in life due to splenomegaly or other complications. Due to the rising phenomenon of global migration, this previously well-localized entity is currently spreading more and more worldwide reaching Northern America and Northern Europe. The clinical picture of NTDT is governed by the severity of the ineffective erythropoiesis and the chronic hemolytic anemia, which, in turn, lead to iron overload, hypercoagulability, and an array of clinical complications involving almost every organ system. Patients with NTDT suffer from complications that are distinct from those encountered in patients with transfusion- dependent thalassemia (TDT in addition to the complications shared by both TDT and NTDT. As a consequence, patients with NTDT deserve a care specifically tailored to their needs. In the care of patients with NTDT, aiming at a standardized yet personalized care is not an easy task especially that NTDT patients lie on a heterogeneous spectrum with a wide variability in their clinical presentation and response to therapy. Therefore, guidelines emerge as a necessity to answer the specific needs of NTDT patients and the clinicians caring for them. In this article, we summarize the complications most commonly associated with NTDT and the recommendations of the guidelines for the management of patients with NTDT, based on the best available evidence.

  20. Secondary Haemochromatosis in a Patient with Thalassemia Intermedia

    OpenAIRE

    Rotaru, Ionela; Gaman, Amelia; GAMAN, G.

    2013-01-01

    Haemochromatosis is due to excessive accumulation of iron in tissues and organs impairing their function. The most common haematologic disorders that are subject to an intensive transfusion regimen bringing excess iron in the body are: thalassemia and myelodysplastic syndrome. The value of serum ferritin in these patients (indicator of iron stores condition) reaches high values. Red cell substitution bringing additional iron intake must be accompanied by administration of chelation therapy in...

  1. Hyperhemolysis in a patient with β-thalassemia major

    Directory of Open Access Journals (Sweden)

    Morawakage R

    2009-01-01

    Full Text Available A case of hyperhemolysis in a 2-year-old boy with β thalassemia major was noted. After several transfusions, he developed hyperhemolysis with a positive (C3d only direct antiglobulin test (DAT and no clinically significant RBC allo- or auto-antibodies. (There was a weak cold antibody, showing a narrow thermal range. Because there was no significant improvement with steroid and immunoglobulin infusions, cyclophosphamide therapy was tried with notable success.

  2. Malabsorption of vitamin B12 in homozygous β-thalassemia

    International Nuclear Information System (INIS)

    Schilling tests were performed in ten children aged 5-12 years suffering from homozygous β-thalassemia. 57Co labelled vitamin B12 values excreted in the urine have been found much lower than normal and remained low when the same procedure was repeated with the addition of intrinsic factor. The possible factors responsible for this malabsorption of vitamin B12 seemed to be liver damage and folic acid deficiency. (orig.)

  3. Hypertriglyceridemia Thalassemia Syndrome: A Report of 4 Cases

    OpenAIRE

    Khera, Rachna; Singh, Meeta; Goel, Garima; Gupta, Parul; Singh, Tejinder; A P Dubey

    2014-01-01

    Hypertriglyceridemia in children can be familial or acquired. Acquired forms of hypertriglyceridemia in children may be associated with several other diseases obesity, diabetes mellitus, uremia/dialysis, hypothyroidism, nephrotic syndrome, drugs etc. Hypertriglyceridemia with β-thalassemia major is an association of unknown pathogenesis which is rarely described in the literature but is important to recognize, for the prevention of complications and proper management of thalassemic children.

  4. VITAMIN D STATUS IN THALASSEMIA MAJOR: AN UPDATE

    OpenAIRE

    Ashraf Tawfik Soliman

    2013-01-01

    The survival of patients with thalassemia major has progressively improved with advances in therapy; however, osteoporosis and cardiac dysfunction remain frequent complications. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. Vitamin D deficiency and insufficiency is reported to be high in thalassemic patients in many countries despite the presence of good sunshine and routine prescription of 400–1,000 IU vitamin D per day. The ri...

  5. VITAMIN D STATUS IN THALASSEMIA MAJOR: AN UPDATE

    Directory of Open Access Journals (Sweden)

    Ashraf Tawfik Soliman

    2013-09-01

    Full Text Available The survival of patients with thalassemia major has progressively improved with advances in therapy; however, osteoporosis and cardiac dysfunction remain frequent complications. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. Vitamin D deficiency and insufficiency is reported to be high in thalassemic patients in many countries despite the presence of good sunshine and routine prescription of 400–1,000 IU vitamin D per day. The risk of vitamin D deficiency in thalassemia and its relation to bone disease; including osteoporosis, rickets, scoliosis, spinal deformities and fractures as well as to cardiac dysfunction is discussed in this mini-review. Monitoring and maintaining normal serum level of 25-OH vitamin D through oral intake of vitamin D and early correction of VDD by oral or parental use of vitamin D may significantly improve bone mineral accretion and ameliorate cardiac function. The survival of patients with thalassemia major has progressively improved with advances in therapy; however, osteoporosis and cardiac dysfunction remain frequent complications. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. Vitamin D deficiency and insufficiency is reported to be high in thalassemic patients in many countries despite the presence of good sunshine and routine prescription of 400–1,000 IU vitamin D per day. The risk of vitamin D deficiency in thalassemia and its relation to bone disease; including osteoporosis, rickets, scoliosis, spinal deformities and fractures as well as to cardiac dysfunction is discussed in this mini-review. Monitoring and maintaining normal serum level of 25-OH vitamin D through oral intake of vitamin D and early correction of VDD by oral or parental use of vitamin D may significantly improve bone mineral accretion and ameliorate cardiac function.

  6. Direct correlation between a negative autoregulatory response element at the cap site of the herpes simplex virus type 1 IE175 (alpha 4) promoter and a specific binding site for the IE175 (ICP4) protein.

    OpenAIRE

    Roberts, M S; Boundy, A; O'Hare, P; Pizzorno, M C; Ciufo, D M; Hayward, G S

    1988-01-01

    In transient-expression assays, the IE175 (alpha 4) promoter region of herpes simple virus is down-regulated after cotransfection with DNA encoding its own protein product (IE175 or ICP4). The inhibition by IE175 proved to be highly specific for its own promoter region and did not act on either the herpes simplex virus type 1 IE110 (alpha 0) or human cytomegalovirus major immediate-early promoters. Furthermore, the inhibition was still exhibited by IE175 effector plasmids driven by strong het...

  7. X-ray scattering signatures of β-thalassemia

    International Nuclear Information System (INIS)

    X-ray scattering from lyophilized proteins or protein-rich samples is characterized by the presence of two characteristic broad peaks at scattering angles equivalent to momentum transfer values of 0.27 and 0.6 nm-1, respectively. These peaks arise from the interference of coherently scattered photons. Once the conformation of a protein is changed, these two peaks reflect such change with considerable sensitivity. The present work examines the possibility of characterizing the most common cause of hemolytic anaemia in Egypt and many Mediterranean countries; β-thalassemia, from its X-ray scattering profile. This disease emerges from a genetic defect causing reduced rate in the synthesis of one of the globin chains that make up hemoglobin. As a result, structurally abnormal hemoglobin molecules are formed. In order to detect such molecular disorder, hemoglobin samples of β-thalassemia patients are collected, lyophilized and measured using a conventional X-ray diffractometer. Results show significant differences in the X-ray scattering profiles of most of the diseased samples compared to control. The shape of the first scattering peak at 0.27 nm-1, in addition to the relative intensity of the first to the second scattering peaks, provides the most reliable signs of abnormality in diseased samples. The results are interpreted and confirmed with the aid of Fourier Transform Infrared (FTIR) spectroscopy of normal and thalassemia samples.

  8. Glutathione Redox System in β-Thalassemia/Hb E Patients

    Directory of Open Access Journals (Sweden)

    Ruchaneekorn W. Kalpravidh

    2013-01-01

    Full Text Available β-thalassemia/Hb E is known to cause oxidative stress induced by iron overload. The glutathione system is the major endogenous antioxidant that protects animal cells from oxidative damage. This study aimed to determine the effect of disease state and splenectomy on redox status expressed by whole blood glutathione (GSH/glutathione disulfide (GSSG and also to evaluate glutathione-related responses to oxidation in β-thalassemia/Hb E patients. Twenty-seven normal subjects and 25 β-thalassemia/Hb E patients were recruited and blood was collected. The GSH/GSSG ratio, activities of glutathione-related enzymes, hematological parameters, and serum ferritin levels were determined in individuals. Patients had high iron-induced oxidative stress, shown as significantly increased serum ferritin, a decreased GSH/GSSG ratio, and increased activities of glutathione-related enzymes. Splenectomy increased serum ferritin levels and decreased GSH levels concomitant with unchanged glutathione-related enzyme activities. The redox ratio had a positive correlation with hemoglobin levels and negative correlation with levels of serum ferritin. The glutathione system may be the body’s first-line defense used against oxidative stress and to maintain redox homeostasis in thalassemic patients based on the significant correlations between the GSH/GSSH ratio and degree of anemia or body iron stores.

  9. Study of the /sup 50/V nucleus with the (/sup 3/He,d), (/sup 3/He,. cap alpha. ), (/sup 3/He,p), and (/sup 3/He,p. gamma. ) reactions. [Angular distribution, 13 and 22 MeV, analog states, DWBA, J,. pi. , spectroscopic factors, angular momentum, transitions

    Energy Technology Data Exchange (ETDEWEB)

    Smith, J W

    1971-06-01

    The nucleus /sup 50/V with a ground-state configuration (..pi..f/sub 7/2/)/sup 3/(..nu..f/sub 7/2/)/sup -1/ was studied with the /sup 49/Ti(/sup 3/He,d)/sup 50/V, /sup 51/V)/sup 3/He,..cap alpha..)/sup 50/V, and /sup 48/Ti(/sup 3/He,p)/sup 50/V, and /sup 48/Ti(/sup 3/He,p..gamma..)/sup 50/V reactions induced by the /sup 3/He/sup + +/ beam from the tandem Van de Graaff at the Argonne National Laboratory. The angular distributions from (/sup 3/He,d), (/sup 3/He,..cap alpha..), and (/sup 3/He,p) reactions induced by 22-MeV /sup 3/He were studied with overall energy resolution widths of 20, 30, and 42 keV, respectively. The reactions (/sup 3/He,p) and (/sup 3/He,p..gamma..) were also studied at an incident energy of 13 MeV to obtain the ..gamma.. decay of /sup 50/V levels (including two 0/sup +/ isobaric analog states) in which the neutron-proton pair is transferred with zero angular momentum. The angular distributions of the charged-particle reactions were analyzed with the distorted-wave Born approximation (DWBA), and spectroscopic factors have been extracted for the one-nucleon transfer reactions. The two-nucleon transfer reaction (/sup 3/He,p) was analyzed with the DWBA on the assumption that the neutron-proton pair is transferred as a deuteron. The angular momentum L/sub np/ of the transferred deuteron is established for most of the levels, and the possibility that several levels might have spin and parity 1/sup +/ is discussed.

  10. Prevalence of renal tubular dysfunction in beta thalassemia minor in shiraz

    Directory of Open Access Journals (Sweden)

    Ali Moradi Nakhodcheri

    2012-02-01

    Full Text Available  Background & objective: β-Thalassemia minor is an asymptomatic hereditary disease. The first study on the relation of renal tubular dysfunction and β-thalassemia minor was performed in 2002 but those studies seem inadequate.The main goal of this study is through evaluation of renal tubular function in 100 patients with thalassemia minor. Materials & Methods: 100 patients with β- thalassemia which confirmed by hemoglobin electrophoresis and CBC as well as RBC indices were studied.14 out of 100 cases exit because of Urinary Tract Infection, diabetes mellitus or hypertension.Complete chemistry profile was performed on serum and urine of all reminder 86 patients (46 female and 40 male. Patients classified into two groups: β-thalassemia minor with anemia and without anemia. Another control group include 50 healthy individuals also considered.Then data analyzed by proper statistical methods. Results: 20 out of 86 reminder cases e.g. 24% showed at least one index of renal tubular dysfunction.58% of patients was been anemic and 42% non anemic. The most prominent tubular dysfunction was seen in a 29 years old lady with glucosuria and without anemia. conclusion: β-Thalassemia minor is common in Iran specially in Fars province. This study revealed significant renal tubular dysfunction in patient with β-thalassemia minor. So it is necessary to check out thalassemic patients for renal function tests periodically. Key words: β-thalassemia, minor,renal tubular dysfunction

  11. Haemoglobin electrophoresis in diagnosing a case of sickle cell anaemia associated with β-thalassemia

    OpenAIRE

    Geraldine, M; Justin, V.; Sheila, U; Venkatesh, T.

    2001-01-01

    Alkaline haemoglobin electrophoresis is a useful tool in diagnosing β-thalassemia and sickle-cell anaemia. In this report, using this simple technique, β-thalassemia associated with sickle-cell anaemia is diagnosed. This is the first case we have diagnosed in our laboratory using agarose gel electrophoresis.

  12. A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia

    Science.gov (United States)

    Mehdi, Syed Riaz; Al Dahmash, Badr Abdullah

    2011-01-01

    BACKGROUND AND AIMS: Saudi Arabia falls in the high prevalent zone of αα and β thalassemias. Early screening for the type of thalassemia is essential for further investigations and management. The study was carried out to differentiate the type of thalassemia based on red cell indices and other hematological parameters. MATERIALS AND METHODS: The study was carried out on 991 clinically suspected cases of thalassemias in Riyadh, Saudi Arabia. The hematological parameters were studied on Coulter STKS. Cellulose acetate hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) were performed on all the blood samples. Gene deletion studies were carried out by restriction fragment length polymorphism (RFLP) technique using the restriction endonucleases Bam HI. STATISTICAL ANALYSIS: Statistical analysis was performed on SPSS 11.5 version. RESULTS: The hemoglobin electrophoresis and gene studies revealed that there were 406 (40.96%) and 59 (5.95 %) cases of β thalassemia trait and β thalassemia major respectively including adults and children. 426 cases of various deletion forms of α thalassemias were seen. Microcytosis was a common feature in β thalassemias trait and (-α/-α) and (--/αα) types of α thalassemias. MCH was a more significant distinguishing feature among thalassemias. β thalassemia major and α thalassemia (-α/αα) had almost normal hematological parameters. CONCLUSION: MCV and RBC counts are not statistically significant features for discriminating between α and β thalassemias. There is need for development of a discrimination index to differentiate between α and β thalassemias traits on the lines of discriminatory Indices available for distinguishing β thalassemias trait from iron deficiency anemia. PMID:22345994

  13. Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia.

    Science.gov (United States)

    Tan, K L; Tan, J A; Wong, Y C; Wee, Y C; Thong, M K; Yap, S F

    2001-01-01

    Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia. PMID:11336396

  14. Reduced risk of uncomplicated malaria episodes in children with a+-thalassemia in northeastern Tanzania

    DEFF Research Database (Denmark)

    Enevold, Anders; Lusingu, John P; Mmbando, Bruno;

    2008-01-01

    The prevalence of human red blood cell (RBC) polymorphisms is high in areas of intense Plasmodium falciparum transmission, and individuals carrying these genetic traits are believed to be partially protected against severe malaria. However, it remains uncertain how RBC polymorphisms affect the...... susceptibility to uncomplicated malaria. We compared the risk of suffering from febrile, uncomplicated malaria between individuals carrying three common RBC polymorphisms (sickle cell trait, alpha(+)-thalassemia, and glucose-6-phosphate-dehydrogenase deficiency) and controls. The study was performed in an area...... of intense malaria transmission where 202 individuals 0-19 years of age were monitored clinically for a period of 6 months. RBC polymorphisms were assessed with molecular methods, and plasma antibodies to P. falciparum variant surface antigens (anti-VSA IgG) and glutamate-rich protein (anti-GLURP Ig...

  15. CENTRIFUGE END CAP

    Science.gov (United States)

    Beams, J.W.; Snoddy, L.B.

    1960-08-01

    An end cap for ultra-gas centrifuges is designed to impart or remove angular momentum to or from the gas and to bring the entering gas to the temperature of the gas inside the centrifuge. The end cap is provided with slots or fins for adjusting the temperature and the angular momentum of the entering gas to the temperature and momentum of the gas in the centrifuge and is constructed to introduce both the inner and the peripheral stream into the centrifuge.

  16. CAPS Simulation Environment Development

    Science.gov (United States)

    Murphy, Douglas G.; Hoffman, James A.

    2005-01-01

    The final design for an effective Comet/Asteroid Protection System (CAPS) will likely come after a number of competing designs have been simulated and evaluated. Because of the large number of design parameters involved in a system capable of detecting an object, accurately determining its orbit, and diverting the impact threat, a comprehensive simulation environment will be an extremely valuable tool for the CAPS designers. A successful simulation/design tool will aid the user in identifying the critical parameters in the system and eventually allow for automatic optimization of the design once the relationships of the key parameters are understood. A CAPS configuration will consist of space-based detectors whose purpose is to scan the celestial sphere in search of objects likely to make a close approach to Earth and to determine with the greatest possible accuracy the orbits of those objects. Other components of a CAPS configuration may include systems for modifying the orbits of approaching objects, either for the purpose of preventing a collision or for positioning the object into an orbit where it can be studied or used as a mineral resource. The Synergistic Engineering Environment (SEE) is a space-systems design, evaluation, and visualization software tool being leveraged to simulate these aspects of the CAPS study. The long-term goal of the SEE is to provide capabilities to allow the user to build and compare various CAPS designs by running end-to-end simulations that encompass the scanning phase, the orbit determination phase, and the orbit modification phase of a given scenario. Herein, a brief description of the expected simulation phases is provided, the current status and available features of the SEE software system is reported, and examples are shown of how the system is used to build and evaluate a CAPS detection design. Conclusions and the roadmap for future development of the SEE are also presented.

  17. Bone marrow transplantation for thalassemia: a global perspective

    Directory of Open Access Journals (Sweden)

    Mohamed Hamed Hussein

    2013-03-01

    Full Text Available Even though severe thalassemia is a preventable disease, over 100,000 new cases are born yearly, particularly in the Middle East and South-East Asia. Most of these children may not reach adulthood because long-term appropriate supportive care is either inaccessible or unaffordable. Bone marrow transplantation (BMT remains the only available definitive cure and success rates can be very high in appropriately selected patients, i.e. low-risk younger children with a matched family donor. In these circumstances BMT may be justified medically, ethically as well as financially, in fact, the cost of low-risk BMT is equivalent to that of a few years of non-curative supportive. This manuscript will briefly review the current status of bone marrow transplantation for thalassemia major with particular emphasis on a global prospective and present the experience of the Cure2Children Foundation supporting sustainable and scalable start up BMT programs in low-resource settings. The initial twelve consecutive patients managed in two start up BMT units in Pakistan (Children’s Hospital of the Pakistan Institute of Medical Sciences, Islamabad and India (South East Asia Institute for Thalassemia, Jaipur were included in this analysis. These initial six patients per each institution where purposely chosen as the focus of this report because they represent the steepest phase of the learning curve. The median age at transplant was 3.9 years, range 0.9 to 6.0, liver was no greater than 2 cm from costal margin, and all received matched related BMT. A structured on-site focused training program as well as ongoing intensive on-line cooperation was provided by the Cure2Children team of professionals. At a median follow-up of 7.5 months (range 3.5 to 33.5 months both thalassemia-free and overall survival are 92%, one patient died of encephalitis-meningitis of unknown cause. No rejections where observed. Neutrophil recovery occurred at a median of 15.5 days (range 13

  18. Thalassemia in Messina: a sociological approach to chronic disease

    Directory of Open Access Journals (Sweden)

    Silvia Carbone

    2014-04-01

    Full Text Available Changing the care along with improved treatment, have altered the life of thalassemia patients, one of the world’s most common genetic diseases (Thalassemia International Federation; http://www.thalassemia.org.cy. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Improved of the new treatment of this ancient disease is essential for optimizing survival. From June 2010 to January 2011, we interviewed 36 people with thalassemia from a primary care in Messina (Center of Genetics and Immunology. The aim of this study is to show the results of a survey conducted in this Center in Messina. This study shows the importance of influence of a multidisciplinary approach, medical, psychological and social, that addresses the changing treatment and epidemiology of thalassemia in order to ensure a better quality of life and survival. Understanding the influence of all three types of resources, medical, psychological and social, is critical for constructing ways to enhance health capability, chronic disease self-management, and health.  以更好的护理方式改善治疗,改变了地中海贫血(一种世界上最常见的遗传性疾病)患者的生活。地中海贫血国际联合会,http://www.thalassemia.org.cy。新的疾病人口统计学方法,凭借着不同的方式地中海贫血症的诊断,咨询和管理产生了影响。对于这种古老的疾病,改善的新疗法对病人生存能力至关重要。从2010年6月至2011年1月,我们在墨西拿的一家初级保健中心(遗传学及免疫学)采访了36位地中海贫血患者。本研究的目的是在墨西拿的这家保健中心得出调查结果。研究显示了针对地中海贫血症,运用多学科方法 —— 医疗,心理和社会以确保患者拥有更好的生存力和生活质量的重要影响力。理解这三种资源的影响力 —— 医疗,心理和社会

  19. Successful treatment of cap polyposis with infliximab.

    Science.gov (United States)

    Bookman, Ian D; Redston, Mark S; Greenberg, Gordon R

    2004-06-01

    Cap polyposis is a disorder characterized by bloody diarrhea with rectosigmoid polyps covered by a cap of fibropurulent exudate. The pathogenesis is unknown, but histological features suggest that mucosal prolapse may play a role. Drug therapies are usually unsuccessful, and treatment requires sigmoid resection or, if the disease recurs after initial surgical resection, panproctocolectomy. We report the case of a 36-year-old woman with characteristic clinical, endoscopic, and histological features of cap polyposis. Investigations included normal anorectal manometry and defecography, without evidence of prolapse. The patient's disease was unresponsive to treatment with mesalamine, antibiotics, lidocaine enemas, and corticosteroids. One infusion of infliximab 5 mg/kg provided dramatic symptomatic improvement but minimal endoscopic or histological change. After 4 infliximab infusions at 8-week intervals, endoscopy of the rectum and sigmoid colon was normal, and biopsies showed complete histological resolution of the inflammatory process. Well-being with normal endoscopy and histology has been maintained at 38 months, without further treatment. It was concluded that infliximab is effective therapy for cap polyposis and avoids the requirement for surgery. No clinical evidence was obtained to support mucosal prolapse as a causative factor, but the response to infliximab suggests a role for tumor necrosis factor-alpha in the pathogenesis of this disorder. PMID:15188181

  20. Prevalence of Alloimmunization against RBC Antigens in Thalassemia Major Patients

    Directory of Open Access Journals (Sweden)

    Amin Mirzaeian

    2013-07-01

    Full Text Available Background: Regular blood transfusions to treat the patients with thalassemia major generate antibodies acting against red blood cells antigens. This immune response is called alloimmunity. This study was conducted with the purpose of determining the prevalence of alloantibodies and autoantibody, identifying the type of causative antigen, and recognizing the factors affecting alloimmunization among the patients with thalassemia major receiving blood. Materials and Methods: In this cross-sectional study, 385 patients with thalassemia major participated. After recording their demographic information, serum specimens taken from the patients were screened using pooled cells obtained from Biorad Company. The positive cases were examined to identify antibodies using panel cells obtained from Iranian Blood Transfusion Organization. In this study, SPSS 16 was employed for performing statistical analysis.Results: Of the 385 patients, 69 subjects (17.9% comprising 221 men and 164 women had alloantibody. In 57 cases, the antibody type was exactly identified. In 21 patients (5.5% the existence of autoantibody was determined. The mean ages of the participants were within 14.3±7.5 and 13.3±7.9 years old for male and female groups, respectively. 28 patients had splenectomy and age at the onset of blood transfusion ranged from a month after birth to nine years.Conclusion: In these patients, the most significant blood group systems acted by alloantibodies were Rh and Kell. Since the results of this study show 17.9% incidence of alloimmunization in these patients, it is recommended to carry out injected blood compatibility test (cross-match after antibody screening.

  1. A new donor system for the patients with thalassemia: "Blood mother and blood father"

    Directory of Open Access Journals (Sweden)

    Canatan Duran

    2010-01-01

    Full Text Available Background : Donor recruitment programs differ in countries depending on local conditions and causes. Regularly voluntary blood donation rate should be 5% of the population but it is extremely low in Turkey. In 1998, "Thalassemia flowers don′t fade" campaigning was started to get regular voluntary blood for patients with thalassemia. We would like to present results of our campaigning. Materials and Methods: The Thalassemia center was established in Antalya on the 1 st June 1994 by Ministry of Health, Turkey, because the incidence of thalassemia is very high in the Antalya region. A total of 388 patients with thalassemia were followed up regularly in the center. The annually blood requirement was approximately 5000 units per year. In 1998, a new program of blood donation for patients with thalassemia called "BLOOD MOTHER and BLOOD FATHER" was started with the support of Governor of Antalya and health management system in Antalya. Results : Between year 1998 and 2006, a total 3000 voluntary blood donors between age 18 and 65 years, of which 2160 males (72% and 840 were females (28%, had participated in this program. Conclusion: "Blood Mother and Blood Father" campaign was successful donor recruitment program for thalassemic care. After 2006, this program is now adopted and run by Turkish Red Crescent and Thalassemia Federation of Turkey for all thalassemics in Turkey.

  2. Humeral immune system state in ß thalassemia major

    OpenAIRE

    Javad Ghaffari; Koorosh Vahidshahi; Mehrnoosh Kosaryan; Zahra Soltantooyeh; Mohadese Mohamadi

    2011-01-01

    Aim To investigate the humeral immune markers in patients with ß-thalassemia major (TM). Methods In this historical – cohort study (August to December 2007), the case group consisted of 34 TM patients and the control group included the same number of their gender and age matched healthy siblings. Serum levels of CH50, C3, C4, IgE, IgG,IgA,IgM and also ASO & Isohemaglutinin titers were determined and compared between the case and control groups (P3000ng/ml had lower C4 and CH50 levels. C4-leve...

  3. Preliminary Study on Thalassemia Screening and Genetic Counseling in Selective Hmong People in Saraburi Province, Thailand

    Directory of Open Access Journals (Sweden)

    Pa Vang

    2008-01-01

    Full Text Available it can lead to the destruction of red blood cells. Studies have shown that there is a high prevalence of thalassemia in Southeast Asia. The Institute of Health Research, Chulalongkorn University developed a successful “Module” to screen for thalassemia in the Thai population, however, it has not been implemented in the minority population in Thailand. In this study, we investigated the feasibility of the newly developed educational and thalassemia screening program with the Hmong population. The primary aim of this study was to test this program. The secondary aim was to determine the prevalence of thalassemia in the Hmong and provide education. A third aim was to determine the reliability of two different screening methods in the Hmong population. A pre-test and post-test design was used; participants (N=12 were individuals residing in Thailand with the ability to read English and between the ages 18-50. The participants met twice with the researchers to complete the program. The first contact consisted of assessing participants’ knowledge about thalassemia, providing thalassemia information and education about genetic counseling, and drawing blood samples. The second contact consisted of assessing knowledge, providing a written report of individual blood sample results and counseling. The initial interview revealed that the majority of the participants (82% did not know anything about thalassemia prior to participation. The program was easy to understand by most participants (90%. Of the eleven Hmong participants, two tested positive for being a possible carrier for thalassemia. In order to reduce the prevalence of thalassemia, it is necessary to engage in risk reduction health services. The modified screening method proved to be as effective as the standard method. Therefore, the program can expand and be used in other regional populations with low cost.

  4. Effect ALPHA Globalin Gene Deletion and GAMMA Globin Gene -158 (C/T) Polymorphism in BETA- Thalassaemic Patients

    International Nuclear Information System (INIS)

    The beta-thalassemias (β- thalassemias) are among the most common autosomal recessive disorders. They have a remarkably high frequency in the Mediterranean region and represent one of the most common genetic diseases in Egypt. In this study, the spectrum of P- thalassemia mutations and genotype-to-phenotype correlations were defined in 32 β- thalassaemic patients (β- thalassemias major and intermedia) with varying disease severity in two cities of the Suez Canal region. Ten different mutations were identified and the most frequent ones were: Isi-6 (T-C) (37.5%), IVSI-110 (G-A) (34.4%) and both IVSI-1 (G-A), IVSII-745 (C-G) and -102 (C-G) (12.5% each). There was a wide spectrum of phenotypic severity in all patients. We studied the Xmnl polymorphism (C/T) in γ- globin gene position -158 of P- thalassemia as a modulating factor of the disease severity. Presence of the polymorphism was found in two patients and this was not sufficient to explain the diversity of the phenotype encountered. Co-inheritance of alpha thalassaemia as a modulating factor was not evident in our patients. In conclusion, we have been unable to find a molecular basis for the benign clinical course in all our patients. Other genetic or acquired factors must be hypothesized which ameliorate the clinical condition.

  5. Influence of splenectomy on immunoglobulins and complement components in major thalassemia

    OpenAIRE

    Darzi, Ali Asghar; Kamali, Sakineh; Khakzad, Mohammad

    2015-01-01

    Background: Thalassemia is the most common anemia with hereditary base in Iran. The aim of this study was to evaluate the humoral immune system and assess the effect of splenectomy on the serum level of immunoglobulins IgG, IgM, and IgG and complement components in patients with major thalassemia. Methods: This quasi-experimental study (before-after) was performed on 40 patients with major thalassemia that referred to the treatment centers of Babol for splenectomy from March 2011 to March 201...

  6. [Hemoglobin C -- beta-thalassemia disease and homozygous beta-thalassemia in a black African family (author's transl)].

    Science.gov (United States)

    Basset, P; Fall, M; Oudart, J L

    1975-01-01

    The study of a Malian family has allowed to prove existence of two types of beta-thalassemia genes: the beta0 gene which suppresses the synthesis of the beta chain into cis position and the beta+ gene which slows down only partially this synthesis. The difference between this two genes has been possible owing to the hemoglobin C found in this family and induced by the betaC mutated gene. The segregation of the four genes betaA, betaC, beta0 thal, and beta+ thal. has allowed to compare all the possible phenotypes deriving from the combinations by two of these allelic genes. PMID:128735

  7. Genetic determinants of β-thalassemia intermedia in Pakistan.

    Science.gov (United States)

    Khan, Jabbar; Ahmad, Nafees; Siraj, Sami; Hoti, Naseruddin

    2015-01-01

    This study covers the molecular characterization of clinically diagnosed β-thalassemia intermedia (β-TI) patients in Pakistan. Blood samples of β-TI patients were collected from all four provinces of Pakistan throughout the period of 2011-2013. The study was carried out using allele-specific primers through polymerase chain reaction or sequencing to determine both α- and β-thalassemia (α- and β-thal) mutations, and restriction enzymes for the characterization of β-globin gene arrangements. In a total of 63 patients, the IVS-I-5 (G > C) was the most frequent mutation (33.88%). The codon 30 (G > A) and IVS-II-1 (T > C) mutations were found only in the Punjabi ethnic group, while the codon 30 (G > C) and Hb S (HBB: c.20A > T) mutations were found only in the Pashtoon and Sindhi ethnic groups, respectively. In case of α-globin genotypes, 44 patients were normal (αα/αα), six patients carried the αα/-α(3.7) genotype, 12 patients carried the -α(3.7)/-α(3.7) genotype, while one patient had the αα/ααα(anti 3.7) genotype. We found that haplotype I was the most frequent, mostly associated with the codons 8/9 (+G) mutation, while the Saudi haplotype was found only with Hb S. PMID:25707679

  8. Deferasirox in Indian children with thalassemia major: 3 years experience

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    Mayank Dhamija

    2013-01-01

    Full Text Available Objective: To evaluate the efficacy and safety of the oral iron chelator deferasirox in treating transfusional hemosiderosis in a cohort of Indian children with thalassemia major with high iron load. Materials and Methods: The first 50 children (age 2-18 yrs with thalassemia major to commence deferasirox at our center were enrolled and followed up for a period of 36 months between April 2008 and March 2011. The dose of deferasirox was determined by their baseline serum ferritin and was adjusted to a maximum of 40 mg/kg/day depending on response. Ferritin levels, SGOT, SGPT, serum creatinine and urine albumin were regularly monitored. Results: Of the 50 patients, 76% documented a significant decline in serum ferritin ( P<0.05. Seven (14% patients had a stable ferritin whilst 5 patients (10% documented an increase over the study period. The mean serum ferritin at baseline, 12, 24 and 36 months was 4354, 3260, 3290 and 3042, respectively ( P<0.05. The median serum ferritin at the same time points was 3555, 2810, 2079 and 2271, respectively ( P<0.05. No severe toxicity was seen. Conclusions: Deferasirox, when given in doses ≥30 mg/kg, was found to be an effective and safe drug in reducing transfusional hemosiderosis. Thirty five (70% needed dose escalation upto 40 mg/kg/day. Fifteen (30%, however did not achieve a negative iron balance despite maximally permissible doses.

  9. Humeral immune system state in ß thalassemia major

    Directory of Open Access Journals (Sweden)

    Javad Ghaffari

    2011-08-01

    Full Text Available Aim To investigate the humeral immune markers in patients with ß-thalassemia major (TM. Methods In this historical – cohort study (August to December 2007, the case group consisted of 34 TM patients and the control group included the same number of their gender and age matched healthy siblings. Serum levels of CH50, C3, C4, IgE, IgG,IgA,IgM and also ASO & Isohemaglutinin titers were determined and compared between the case and control groups (P3000ng/ml had lower C4 and CH50 levels. C4-level in male patients was significantly lower. Conclusion This study indicated that there were no significant changes in humeral immune markers in the patients with ß-thalassemia major compared to the controls, except in the case of IgA which was higher in the TM patients. It seems that there is no need for routine survey of immunoglobulins and complement levels in thalassemic patients in order to detect immunodeficiency.

  10. The significance of a positive DAT in thalassemia patients.

    Science.gov (United States)

    Arinsburg, S A; Skerrett, D L; Kleinert, D; Giardina, P J; Cushing, M M

    2010-01-01

    The DAT is performed for the detection of antibody or complement on the surface of RBCs. Our institution previously performed DATs on all chronically transfused thalassemia patients before each transfusion episode to detect early alloimmunization. The medical records of all thalassemia patients treated at our institution from 2004 to 2007 were reviewed to determine the significance of the high rate of positive DATs (52.5% of 80 patients). The majority of IgG-reactive DATs were associated with a nonreactive eluate (65.4% of 286 eluates performed). A positive DAT was significantly associated with splenectomy (χ² = 15.4; p patients were more likely to have a positive DAT than nonalloimmunized patients, but this association was not significant (OR, 2.2; p = 0.11). A positive DAT did not correlate with decreased response to transfusion, RBC survival, hemolysis, or increased transfusion requirements. Only two cases of early alloimmunization were detected by DAT among 288 DAT-positive samples studied during 4 years. This study demonstrated that the routine performance of DATs on pretransfusion specimens in thalassemic patients has limited clinical utility, and the elimination of this test will improve turnaround time and decrease costs. PMID:21214294

  11. Growth and endocrine disorders in thalassemia: The international network on endocrine complications in thalassemia (I-CET position statement and guidelines

    Directory of Open Access Journals (Sweden)

    Vincenzo De Sanctis

    2013-01-01

    Full Text Available The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware that endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance to treatment, particularly after the age of 10 years. Since the quality of life of thalassemia patients is a fundamental aim, it is vital to monitor carefully their growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment. Abnormalities should be identified and treatment initiated in consultation with a pediatric or an adult endocrinologist and managed accordingly. Appropriate management shall put in consideration many factors such as age, severity of iron overload, presence of chronic liver disease, thrombophilia status, and the presence of psychological problems. All these issues must be discussed by the physician in charge of the patient′s care, the endocrinologist and the patient himself. Because any progress in research in the field of early diagnosis and management of growth disorders and endocrine complications in thalassemia should be passed on to and applied adequately to all those suffering from the disease, on the 8 May 2009 in Ferrara, the International Network on Endocrine Complications in Thalassemia (I-CET was founded in order to transmit the latest information on these disorders to the treating physicians. The I-CET position statement outlined in this document applies to patients with transfusion-dependent thalassemia major to help physicians to anticipate, diagnose, and manage these complications properly.

  12. molecular analysis of intron-1 mutation in β-Globin gene of β-Thalassemia

    International Nuclear Information System (INIS)

    β-thalassemia is considered the most common genetic disorder worldwide, it occurs in a particularly high frequency in abroad belt extending from the mediterranean basin through the middle east, and abundance in egypt. the thalassemias are a group of genetic (inherited) blood disorders that share in common one feature, the defective production of hemoglobin. there are many different disorders with defective hemoglobin synthesis and, hence, many types of thalassemia. about 3% of the world's population (180 million people) carry β-thalassemia genes.the present study was carried out in the biological application department of nuclear research center, atomic energy authority and microbiology department and hematology unit of pediatrics department, faculty of medicine, Zagazig University

  13. Red cell distribution width in the diagnosis of iron deficiency anemia and thalassemia trait

    International Nuclear Information System (INIS)

    To evaluate diagnostic importance of Red Cell Distribution Width (RDW) in differentiating iron deficiency anemia from Thalassemia trait. A total of 100 cases aged 5 months to 50 years of either sex with diagnosed iron deficiency anemia or thalassemia trait were compared with respect to their RDW value. RDW value in iron deficiency anemia was between 36.2% to 55.2% (Mean 44.1%). The range of RDW in Thalassemia trait was 14.7% to 24.9% (Mean 19.8%). Conclusions The very high range of RDW in iron deficiency anemia as compared to slight elevation of the value in thalassemia trait in our study suggests that RDW value obtained from simple Complete Blood Counts (CBC) can help in differentiating the two pathologies. (author)

  14. Brazilian Thalassemia Association protocol for iron chelation therapy in patients under regular transfusion

    Directory of Open Access Journals (Sweden)

    Monica Pinheiro de Almeida Verissimo

    2013-01-01

    Full Text Available In the absence of an iron chelating agent, patients with beta-thalassemia on regular transfusions present complications of transfusion-related iron overload. Without iron chelation therapy, heart disease is the major cause of death; however, hepatic and endocrine complications also occur. Currently there are three iron chelating agents available for continuous use in patients with thalassemia on regular transfusions (desferrioxamine, deferiprone, and deferasirox providing good results in reducing cardiac, hepatic and endocrine toxicity. These practice guidelines, prepared by the Scientific Committee of Associação Brasileira de Thalassemia (ABRASTA, presents a review of the literature regarding iron overload assessment (by imaging and laboratory exams and the role of T2* magnetic resonance imaging (MRI to control iron overload and iron chelation therapy, with evidence-based recommendations for each clinical situation. Based on this review, the authors propose an iron chelation protocol for patients with thalassemia under regular transfusions.

  15. Electrocardiographic Presentation, Cardiac Arrhythmias, and Their Management in β-Thalassemia Major Patients.

    Science.gov (United States)

    Russo, Vincenzo; Rago, Anna; Papa, Andrea Antonio; Nigro, Gerardo

    2016-07-01

    Beta-thalassemia major (β-TM) is a genetic hemoglobin disorder characterized by an absent synthesis of globin chains that are essential for hemoglobin formation, causing chronic hemolytic anemia. Clinical management of thalassemia major consists in regular long-life red blood cell transfusions and iron chelation therapy to remove iron introduced in excess with transfusions. Iron deposition in combination with inflammatory and immunogenic factors is involved in the pathophysiology of cardiac dysfunction in these patients. Heart failure and arrhythmias, caused by myocardial siderosis, are the most important life-limiting complications of iron overload in beta-thalassemia patients. Cardiac complications are responsible for 71% of global death in the beta-thalassemia major patients. The aim of this review was to describe the most frequent electrocardiographic abnormalities and arrhythmias observed in β-TM patients, analyzing their prognostic impact and current treatment strategies. PMID:27324981

  16. Coefficient Alpha

    OpenAIRE

    Panayiotis Panayides

    2013-01-01

    Heavy reliance on Cronbach’s alpha has been standard practice in many validation studies. However, there seem to be two misconceptions about the interpretation of alpha. First, alpha is mistakenly considered as an indication of unidimensionality and second, that the higher the value of alpha the better. The aim of this study is to clarify these misconceptions with the use of real data from the educational setting. Results showed that high alpha values can be obtained in multidimensional scale...

  17. Treating iron overload in patients with non-transfusion-dependent thalassemia

    OpenAIRE

    Ali T Taher; Viprakasit, Vip; Khaled M. Musallam; Cappellini, M. Domenica

    2013-01-01

    Despite receiving no or only occasional blood transfusions, patients with non-transfusion-dependent thalassemia (NTDT) have increased intestinal iron absorption and can accumulate iron to levels comparable with transfusion-dependent patients. This iron accumulation occurs more slowly in NTDT patients compared to transfusion-dependent thalassemia patients, and complications do not arise until later in life. It remains crucial for these patients' health to monitor and appropriately treat their ...

  18. Which psychosocial factors are related to chelation adherence in thalassemia? A systematic review

    OpenAIRE

    Evangeli, M.; Mughal, K.; Porter, J. B.

    2010-01-01

    Good adherence to iron chelation therapy in thalassemia is crucial. Although there is evidence that adherence is related to regimen factors, there has been less emphasis on the relationship between psychosocial (psychological, demographic and social) factors and adherence. We present a systematic review of psychosocial correlates of chelation adherence in thalassemia. Nine studies met the inclusion criteria. Information was extracted regarding the study characteristics and the relationship be...

  19. Brazilian Thalassemia Association protocol for iron chelation therapy in patients under regular transfusion

    OpenAIRE

    Monica Pinheiro de Almeida Verissimo; Sandra Regina Loggetto; Antonio Fabron Junior; Giorgio Roberto Baldanzi; Nelson Hamerschlak; Juliano de Lara Fernandes; Aderson da Silva Araujo; Clarisse Lopes de Castro Lobo; Kleber Yotsumoto Fertrin; Vasilios Antonios Berdoukas; Renzo Galanello

    2013-01-01

    In the absence of an iron chelating agent, patients with beta-thalassemia on regular transfusions present complications of transfusion-related iron overload. Without iron chelation therapy, heart disease is the major cause of death; however, hepatic and endocrine complications also occur. Currently there are three iron chelating agents available for continuous use in patients with thalassemia on regular transfusions (desferrioxamine, deferiprone, and deferasirox) providing good results in red...

  20. Prevalence of Diabetes and Impaired Glucose Tolerance Test in Patients with Thalassemia Major

    OpenAIRE

    Mehdi Jahantigh; Majid Naderi; Akbar Dorgalaleh; Shadi Tabibian

    2014-01-01

    Background: Diabetes is one of the most common endocrine disorder worldwide that due to high prevalence and chronic nature of diabetes imposes a heavy cost on health care system. Therefore this study aimed to assess prevalence of diabetes among patients with beta thalassemia major. Materials and Methods: This descriptive study was conducted on 364 patients with beta thalassemia major that received at least 100 blood bags. For evaluation of diabetes among these patients, fasting blood sugar...

  1. Screening of β-thalassemia trait among pregnant women with NESTROFT

    OpenAIRE

    Hitesh Sarda; Shankaran Rukmini Niveditha; Nirmala Shivlingaiah

    2015-01-01

    The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89%) wer...

  2. Renal impairment in β thalassemia major patients receiving repeated blood transfusion

    OpenAIRE

    Riadi Wirawan; Simon Kusnandar; Abas Suherli; Djajadiman Gatot

    2003-01-01

    β-thalassemia major is a disease caused by β polypeptide chain synthesis disorder which is inherited in an autosomal recessive manner from both parents and which is marked by little or no β-globin chain synthesis. Treatment for β-thalassemia major patients is by giving repeated blood transfusions, which causes iron accumulation, leading to hemochromatosis. Iron accumulation can occur in various body organ, including the kidneys. The aim of this study was to investigate the existence of renal ...

  3. Severe bacterial infections in patients with non-transfusion-dependent thalassemia: prevalence and clinical risk factors

    OpenAIRE

    Nattiya Teawtrakul; Arunee Jetsrisuparb; Chittima Sirijerachai; Kanchana Chansung; Chinadol Wanitpongpun

    2015-01-01

    Introduction: Bacterial infection is one of the major causes of death in patients with thalassemia. Clinical predictive factors for severe bacterial infection were evaluated in patients with non-transfusion-dependent thalassemia (NTDT). Methods: A retrospective study was conducted of patients with NTDT aged ≥10 years at Srinagarind Hospital, Khon Kaen University, Thailand. Clinical characteristics and potential clinical risk factors for bacterial infection were collected. Risk factors for ...

  4. Association between serum ferritin level and diastolic cardiac function in patients with major β-thalassemia

    OpenAIRE

    Eghbali, A.; Taherahmadi, H; B. Bagheri; Nikanjam, S; L Ebrahimi

    2015-01-01

    Background Prevention of myocardial siderosis is a key step to reduce rate of mortality in thalassemic patients. Our objective was to study association between echocardiography parameters and serum ferritin level in patients with major thalassemia. Materials and Methods Sixty-six patients with major thalassemia were studied in Amir Kabir hospital, Arak, Iran. Serum ferritin levels were measured during 3 months in patients with no symptoms of infection. It was measured by enzyme-linked immunos...

  5. Iron and Ferritin Levels in Saliva of Patients with Thalassemia and Iron Deficiency Anemia

    OpenAIRE

    Canatan, Duran; Akdeniz, Sevgi Kosaci

    2012-01-01

    Most of the techniques for measuring iron stores such as serum iron concentration, iron binding capacity, serum ferritin level, liver biopsy can be troublesome or invasive for patients with thalassemia. The salivary iron measurement could be of potential advantage being an easy and non invasive approach for diagnosis of iron deficiency and iron overload . The aim of this study was to compare the levels of iron and ferritin in saliva and serum of patients affected by thalassemia or iron defici...

  6. The Comparison of Serum Vitamin D Level in Patients with Iron Deficiency Anemia and Minor Thalassemia

    OpenAIRE

    Royani, S. (MSc); Alijanpor, S. (BSc); Shirbaghaei, Z. (BSc); Khorasaninejad, R. (BSc); Roshandel, GH. (MSc); Ayatollahi, AA. (MD); Joshaghani, HR. (PhD)

    2013-01-01

    Background and Objective: Of the most common hypochromic microcytic anemia are iron deficiency anemia and minor thalassemia, which are common in Iran and their differential diagnosis is extremely important. The level of 25-hydroxy vitamin D is the indication of vitamin D blood status. The aim of this study was to compare serum levels of vitamin D in people with minor thalassemia and iron deficiency anemia with healthy subjects in order to investigate the relationship between vitamin D deficie...

  7. Urinary iron excretion induced by intravenous infusion of deferoxamine in ß-thalassemia homozygous patients

    OpenAIRE

    Boturão-Neto E.; Marcopito L.F.; Zago M.A.

    2002-01-01

    The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent ß-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 ß-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF). Patients were classified into six groups of i...

  8. Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq

    OpenAIRE

    Adil A Eissa; Kashmoola, Muna A.; Atroshi, Sulav D.; Al-Allawi, Nasir A. S.

    2014-01-01

    Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridizati...

  9. Hematopoietic Stem Cell Transplantation in Thalassemia and Sickle Cell Disease. Unicenter Experience in a Multi-Ethnic Population.

    OpenAIRE

    Marziali, Marco; Isgrò, Antonella; Gaziev, Javid; Lucarelli, Guido

    2009-01-01

    Hematopoietic stem cell transplantation (HSCT) still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia. Results of transplant in thalassemia and in sickle cell anemia have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through 2009, 145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous from ...

  10. Respiratory burst enzymes, pro-oxidants and antioxidants status in Bangladeshi population with β-thalassemia major

    OpenAIRE

    Md. Faruk Hossain; Md. Ismail; Arifur Rahman Tanu; Hossain Uddin Shekhar

    2015-01-01

    Background: Oxidative stress is intimately associated with many diseases, including β-thalassemia. Aim: The study was to estimate the status of respiratory burst enzymes, pro-oxidants, and antioxidants in β-thalassemia major patients in Bangladesh and to compare with apparently healthy individuals. Materials and Methods: A total of 49 subjects were recruited which included 25 patients (age range 5 to 40 years) with β-thalassemia major and 24 controls (age and sex matched). Superoxide dismutas...

  11. Prevalence of β(S)-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil.

    Science.gov (United States)

    Shimauti, Eliana LitsukoTomimatsu; Silva, Danilo Grunig Humberto; de Souza, Eniuce Menezes; de Almeida, Eduardo Alves; Leal, Francismar Prestes; Bonini-Domingos, Claudia Regina

    2015-01-01

    The aim of this study was to determine the frequency of beta S-globin gene (β(S) globin) haplotypes and alpha thalassemia with 3.7 kb deletion (-α(3.7kb) thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of β(S) globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The β(S)globin haplotypes and -α(3.7kb) thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu- 21 (62%), Benin - 11 (32%) and Atypical- 2 (6%). Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8) had the -α(3.7kb) mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05). Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity. PMID:26500435

  12. Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

    Directory of Open Access Journals (Sweden)

    Eliana LitsukoTomimatsu Shimauti

    2015-09-01

    Full Text Available The aim of this study was to determine the frequency of beta S-globin gene (βS globin haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The βSglobin haplotypes and −α3.7kb thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC and lipid peroxidation (LPO were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu- 21 (62%, Benin - 11 (32% and Atypical- 2 (6%. Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8 had the −α3.7kb mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05. Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity.

  13. Frequency of thalassemia carrier and Hb variant and the quality of stored donor blood

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    Eva A. Maharani

    2015-01-01

    Full Text Available Background: This study was aimed to determine the frequency of thalassemia and Hb variant in blood donor. In addition, we also wanted to know the quality of blood from the donor up to seven days of storage, by calculating percentage of hemolysis in vitro.Methods: This cross-sectional study was conducted on 138 blood donor specimens at Red Cross Blood Centre Unit in Jakarta. All specimens were tested for thalassemia and Hb variant by complete blood count (CBC and Hb analysis with HPLC method and DNA analysis for the detection of α thalassemia carrier. To analyze the quality of stored blood, the calculation of hemolytic rate of red blood cells (RBCs on whole blood (WB was compared between the first and seventh days of storage.Results: Out of the 138 specimens, 5 samples (3.6% were diagnosed for α thalassemia carrier in which, one of them is co-inherited with ovalositosis hereditary (Southeast Asian Ovalositosis/SAO, 3 samples (2.2% for β thalassemia carrier, and 3 samples (2.2% for Hb E. Meanwhile, the hemolytic rates of RBCs on WB in first day and seven day of storage were below one percent.Conclusion: The frequency of thalassemia carrier and Hb variants in blood donors at Red Cross Blood Centre Unit in Jakarta was 8%. The quality of stored blood until seven day of storage was quite good.

  14. Comparative evaluation of NESTROFT and RDW as screening tests for beta thalassemia trait in pregnancy

    Directory of Open Access Journals (Sweden)

    Pritibala Patel

    2015-04-01

    Full Text Available Background: Thalassemia is the commonest inherited hemoglobinopathy. It is estimated that there are about 45 million carriers of the beta thalassemia gene and about 15000 affected infants are born every year in India, thereby contributing to about 10% of the total thalassemia babies born all over the world. Beta Thalassemia Trait (BTT is asymptomatic while Beta Thalassemia Major (BTM presents with severe anemia and requires lifelong blood transfusion, so emphasis must shift from treatment to screening and offering prenatal counseling to affected parents. Methods: It was a hospital based cross sectional study on 500 antenatal women with microcytic hypochromic anemia with hemoglobin <9 gm% and MCV <80 fl and all these women underwent Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT, High Performance Liquid Chromatography (HPLC and serum ferritin estimation. Results: In our study the sensitivity and specificity of NESTROFT was 93.3% and 95.7% respectively compared to Red cell Distribution Width (RDW with a sensitivity and specificity of 66.6% and 78.9% respectively. Conclusions: For low resource settings like India, screening for beta thalassemia by NESTROFT is a cheaper and more reliable method with a high sensitivity and specificity and can be performed easily by paramedical staff. [Int J Reprod Contracept Obstet Gynecol 2015; 4(2.000: 424-428

  15. Etiopathological mechanisms and clinical characteristics of hyperhemolysis syndrome in Spanish patients with thalassemia.

    Science.gov (United States)

    Vagace, Jose Manuel; Cardesa, Rocío; Corbacho, Antonio; Vázquez, Teresa; de la Maya, Maria Dolores; Gonzalez, Fernando Ataulfo; Nieto, José Bartolomé; Urrutia, Emilia; Gómez, María Jesus; Pascual, Teresa; Aguinaco, Maria Reyes; Gervasini, Guillermo

    2016-09-01

    Hyperhemolysis syndrome (HHS) is characterized by severe intravascular hemolysis with a decrease in the reticulocyte count, which is triggered and aggravated by transfusion and cannot be explained by standard immunohematological studies. A nationwide study was conducted in order to retrospectively identify thalassemia patients with HHS in Spain in order to assess pre-disposing mechanisms for this syndrome. For this, the expression of adhesion (CD49, CD36) and complement-related molecules (C3a, CD59) and the levels of reticulocyte apoptosis and macrophage activation were measured in 4 thalassemia patients with HHS, 14 patients without HHS, and 10 healthy subjects. Five of the six thalassemia patients had δβ-thalassemia. The patients were not alloimmunized prior to the syndrome, which was developed after the first transfusion in all but one case. Patients with δβ-thalassemia did not respond to corticoids or immunoglobulins; only splenectomy was successful. The expression of CD49 (α4β1 integrin) was far higher in patients who had experienced HHS (85.07 ± 18.46 vs. 46.28 ± 24.31; p < 0.01), and the difference remained significant after correcting by the number of molecules analyzed (Bonferroni p < 0.05). In our population, δβ-thalassemia was the most common hemoglobinopathy in patients with HHS. Furthermore, the risk to develop this syndrome may be associated with an increased expression of α4β1 integrin. PMID:27392662

  16. Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major

    International Nuclear Information System (INIS)

    Background: Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism. Methods: 47 beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcification. 30 age- and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study serving as controls. The amount of intracerebral calcification, hematologic parameters, and some clinical findings were compared between both groups. Results: Intracerebral calcification was present in 54.2% of beta-thalassemia patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. In contrast, there was no evidence of intracerebral calcifications in the 30 thalassemic patients with normal parathyroid function. There was not a statistically significant difference between serum ferritin concentrations in thalassemia patient with hypoparathyroidism and those with normal parathyroid function (2781 vs. 2178, P > 0.05). Conclusion: Intracranial calcification is a common finding in thalassemia patients with hypoparathyroidism, it can be extensive and involves most regions of the brain.

  17. [γ-Globin Inductive Therapy of β-thalassemia and Its Relationship with MicroRNA].

    Science.gov (United States)

    Li, Yao-Yao; Gu, Jian; Yu, Duo-Nan

    2016-04-01

    β-thalassemia is a chronic hemolytic anemia characterized by the reduction or absence of synthesis of β-globin chains because of the β-globin gene mutations. β-thalassemia belongs to the inherited hemoglobin disease, and occurs in some provinces of China, such as in Guangdong, Guangxi, Fujian, its prevalence is about 2%. The treatment of this disease include transfusion, iron chelating agent, hematopoietic stem cell transplantation, splenectomy, induced expression of Fetal Hemoglobin (HbF) and gene therapies. However, the mortality rate of this disease is still higher, thus some new treatments are urgently needed. In recent years, the study was mainly concentrated in 2 aspects: the normal β-globin gene transfer and endogenous γ-globin re-activation. Some studies showed that the expression of miRNAs was dysregulated in β-thalassemia. Some miRNAs could regulate γ-globin at posttranscriptional level, thus, the clarification of relationship between miRNAs and β-thalassemia is expected to provide experimental bases to β-thalassemia therapy. In this review, the induced therapy of γ-globin for β-thalassemia and its relationship with the miRNA are summarized. PMID:27151042

  18. Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran

    Directory of Open Access Journals (Sweden)

    Seyed-Taghi Heydari

    2010-09-01

    Full Text Available Objective:The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran. Methods:A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006-2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO dose, mean daily doses of DFO (mg/kg and audiometric variables was recorded. Findings:Out of 308 cases, 283 (96.5% had normal hearing and 10 (3.5% sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion. Conclusion:We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity.

  19. Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran

    Science.gov (United States)

    Faramarzi, Abolhassan; Karimi, Mehran; Heydari, Seyed-Taghi; Shishegar, Mahmoud; Kaviani, Masoud

    2010-01-01

    Objective The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran. Methods A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006–2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO) dose, mean daily doses of DFO (mg/kg) and audiometric variables was recorded. Findings Out of 308 cases, 283 (96.5%) had normal hearing and 10 (3.5%) sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion. Conclusion We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity. PMID:23056722

  20. Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major

    Energy Technology Data Exchange (ETDEWEB)

    Karimi, M. [Iran-Shiraz-Namazee Hospital, Namazee Square, Hematology Research Center, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: karimim@sums.ac.ir; Rasekhi, A.R. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: rasekhia@sums.ac.ir; Rasekh, M. [Iran-Shiraz-Namazee Hospital, Namazee Square, Department of Endocrinology and Metabolism, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: Rasekhm@sums.ac.ir; Nabavizadeh, S.A. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: nabavia@gmail.com; Assadsangabi, R. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: assadsangabi@yahoo.com; Amirhakimi, G.H. [Iran-Shiraz-Namazee Hospital, Namazee Square, Department of Endocrinology and Metabolism, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: amirhakimig@sums.ac.ir

    2009-06-15

    Background: Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism. Methods: 47 beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcification. 30 age- and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study serving as controls. The amount of intracerebral calcification, hematologic parameters, and some clinical findings were compared between both groups. Results: Intracerebral calcification was present in 54.2% of beta-thalassemia patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. In contrast, there was no evidence of intracerebral calcifications in the 30 thalassemic patients with normal parathyroid function. There was not a statistically significant difference between serum ferritin concentrations in thalassemia patient with hypoparathyroidism and those with normal parathyroid function (2781 vs. 2178, P > 0.05). Conclusion: Intracranial calcification is a common finding in thalassemia patients with hypoparathyroidism, it can be extensive and involves most regions of the brain.

  1. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  2. Performance of blasting caps

    Science.gov (United States)

    Bement, Laurence J. (Inventor); Schimmel, Morry L. (Inventor); Perry, Ronnie B. (Inventor)

    1993-01-01

    Common blasting caps are made from an aluminum shell in the form of a tube which is closed at both ends. One end, which is called the output end, terminates in a principal side or face, and contains a detonating agent which communicates with a means for igniting the detonating agent. The improvement of the present invention is a flat, steel foil bonded to the face in a position which is aligned perpendicularly to the longitudinal axis of the tube.

  3. Capping the Mortgage Interest Deduction

    OpenAIRE

    Anderson, John E.; Clemens, Jeffrey; Hanson, Andrew

    2007-01-01

    In this paper we examine the economic implications of several policy options for capping the mortgage interest deduction (MID). We extend the standard user–cost model of owner–occupied housing to include a cap on the mortgage size receiving tax–favored status. Our user–cost estimates for taxpayers with mortgages above the current–law cap are 4.41 percent higher than estimates from a model without the cap. We simulate the share of mortgage dollars that would be subject to three alternative cap...

  4. Saltstone Clean Cap Formulation

    Energy Technology Data Exchange (ETDEWEB)

    Langton, C

    2005-04-22

    The current operation strategy for using Saltstone Vault 4 to receive 0.2 Ci/gallon salt solution waste involves pouring a clean grout layer over the radioactive grout prior to initiating pour into another cell. This will minimize the radiating surface area and reduce the dose rate at the vault and surrounding area. The Clean Cap will be used to shield about four feet of Saltstone poured into a Z-Area vault cell prior to moving to another cell. The minimum thickness of the Clean Cap layer will be determined by the cesium concentration and resulting dose levels and it is expected to be about one foot thick based on current calculations for 0.1 Ci Saltstone that is produced in the Saltstone process by stabilization of 0.2 Ci salt solution. This report documents experiments performed to identify a formulation for the Clean Cap. Thermal transient calculations, adiabatic temperature rise measurements, pour height, time between pour calculations and shielding calculations were beyond the scope and time limitations of this study. However, data required for shielding calculations (composition and specific gravity) are provided for shielding calculations. The approach used to design a Clean Cap formulation was to produce a slurry from the reference premix (10/45/45 weight percent cement/slag/fly ash) and domestic water that resembled as closely as possible the properties of the Saltstone slurry. In addition, options were investigated that may offer advantages such as less bleed water and less heat generation. The options with less bleed water required addition of dispersants. The options with lower heat contained more fly ash and less slag. A mix containing 10/45/45 weight percent cement/slag/fly ash with a water to premix ratio of 0.60 is recommended for the Clean Cap. Although this mix may generate more than 3 volume percent standing water (bleed water), it has rheological, mixing and flow properties that are similar to previously processed Saltstone. The recommended

  5. Saltstone Clean Cap Formulation

    International Nuclear Information System (INIS)

    The current operation strategy for using Saltstone Vault 4 to receive 0.2 Ci/gallon salt solution waste involves pouring a clean grout layer over the radioactive grout prior to initiating pour into another cell. This will minimize the radiating surface area and reduce the dose rate at the vault and surrounding area. The Clean Cap will be used to shield about four feet of Saltstone poured into a Z-Area vault cell prior to moving to another cell. The minimum thickness of the Clean Cap layer will be determined by the cesium concentration and resulting dose levels and it is expected to be about one foot thick based on current calculations for 0.1 Ci Saltstone that is produced in the Saltstone process by stabilization of 0.2 Ci salt solution. This report documents experiments performed to identify a formulation for the Clean Cap. Thermal transient calculations, adiabatic temperature rise measurements, pour height, time between pour calculations and shielding calculations were beyond the scope and time limitations of this study. However, data required for shielding calculations (composition and specific gravity) are provided for shielding calculations. The approach used to design a Clean Cap formulation was to produce a slurry from the reference premix (10/45/45 weight percent cement/slag/fly ash) and domestic water that resembled as closely as possible the properties of the Saltstone slurry. In addition, options were investigated that may offer advantages such as less bleed water and less heat generation. The options with less bleed water required addition of dispersants. The options with lower heat contained more fly ash and less slag. A mix containing 10/45/45 weight percent cement/slag/fly ash with a water to premix ratio of 0.60 is recommended for the Clean Cap. Although this mix may generate more than 3 volume percent standing water (bleed water), it has rheological, mixing and flow properties that are similar to previously processed Saltstone. The recommended

  6. Moessbauer studies of blood diseases: thalassemia and malaria

    International Nuclear Information System (INIS)

    In 57F Moessbauer studies of blood samples obtained from patients with thalassemia large amounts of iron, yielding a well defined spectrum, different from that obtained in oxy - or deoxy-hemoglobin, were found. The additional iron component was identified as due to ferritin - the iron storage protein. The amounts of ferritin-like iron were comparable to those of hemoglobin iron and were especially large in reticulocytes. Desferral was found to remove ferritin-like iron from serum, but not from red blood cells. In malaria, a parasite induced blood disease, the iron containing compound in the malarial pigment in rats infected by Plasmodium berghei was found to be trivalent high spin, different from any known iron porphyrin, yet was found to be similar to hemin in human blood cells infected by P. falciparum. The difference in the spectra obtained in RBC infected with drug sensitive and drug resistance strains and the effect of medication on the spectra is discussed. (author)

  7. Adrenal extramedullary hematopoiesis associated with β-thalassemia major

    Directory of Open Access Journals (Sweden)

    Bijan Keikhaei

    2012-01-01

    Full Text Available The presence of apparently normal hematopoietic tissue outside of bone marrow cavity is defined as extramedullary hema - topoiesis (EMH. EMH is a rare complication in thalassemia major (TM and adrenal gland as well. This report describes a case of adrenal EMH in a 26-year-old man with β-TM. He has been transfused with regular blood transfusion since 9 months. During the routine physical examination he was incidentally found to have a hypoechoic mass at his abdominal ultrasonography. Abdominal computed tomography scan revealed a right well-defined suprarenal mass 7.7¥7.3¥5.8 cm in size. The diagnosis of EMH was confirmed with ultrasonographic-guided fine needle biopsy. Treatment options which include intensified regular blood transfusion and hydroxyurea have been started.

  8. Cardiac and Liver T2* Measurement in 2000 Thalassemia Patients

    Directory of Open Access Journals (Sweden)

    Shahram Akhlaghpoor

    2009-01-01

    Full Text Available "nIntroduction: Although several studies have been published for the evaluation of  myocardial and hepatic iron loads and serum ferritin levels in beta - thalassemia major patients, most of them are reported in small series. The purpose of this study is to evaluate these parameters in a larger group of patients. "nMaterial and Methods: One thousand and five hundred and eighty eight beta thalassemia major patients with the mean age of 23.5 (SD=9.4 years were enrolled in this study and T2* images were obtained from their heart and liver by 1.5 Tesla MRI scanner using respiratory and cardiac gating. Quantitative T2* were calculated for myocardium and liver parenchyma by a dedicated well known software. Serum ferritin concentration was also recorded for all patients and correlations were calculated. "nResults: There was no correlation found between myocardial and serum ferritin and hepatic iron loads and serum ferritin. There was no correlation between organs’ iron load and the patients’ age. Mild correlation was observed between hepatic iron loads and serum ferritin (r=-0.37 which was slightly improved using non-linear correlation (r=- 0.49. "nConclusion: Iron accumulation in different organs is independent and direct iron load measurement is the best way for organ iron deposition risk evaluation especially in the heart and liver. Serum ferritin is not a good indicator of organ iron load and clinical decision could not be made on this parameter alone.  

  9. Cardiac Function and Iron Chelation in Thalassemia Major and Intermedia: a Review of the Underlying Pathophysiology and Approach to Chelation Management

    OpenAIRE

    Aessopos, Athanasios; Berdoukas, Vasilios

    2009-01-01

    Heart disease is the leading cause of mortality and one of the main causes of morbidity in beta-thalassemia. Patients with homozygous thalassemia may have either a severe phenotype which is usually transfusion dependent or a milder form that is thalassemia intermedia. The two main factors that determine cardiac disease in homozygous β thalassemia are the high output state that results from chronic tissue hypoxia, hypoxia-induced compensatory reactions and iron overload. The high output state ...

  10. The proportion of hybrid heterodimers in homozygous or doubly heterozygous beta chain variant hemoglobinopathies associated with alpha chain hemoglobin variants.

    Science.gov (United States)

    Krauss, J S

    2000-10-01

    Four alpha genes exist on chromosome 16, but one or more of these genes can be deleted in association with Hemoglobin (Hb)G-Philadelphia in cis to alpha-thalassemia-2 in African-Americans. Therefore, the proportion of HbG-Philadelphia in HbG heterozygotes is trimodal at about 25% for alphaGalpha/alpha alpha, 33% for alphaG-/alpha alpha, and 50% for alphaG-/alpha alpha in patients with HbA. Those who are homozygous or doubly heterozygous for beta chain variants (betaX2 or betaXbetaY) have neither HbA nor the alpha chain variant (alphaX2 betaA2), but have hybrid heterodimers (alphaX2 betaX2). The proportion of hybrid heterodimers here should also be trimodal mirroring alpha gene status. Eleven patients were identified: 4 with Hb SSG, 3 with Hb SCG, and 1 each with Hb OCG, HbSSMontgomery, HbSSChicago, and HbSSBourmedes. Heterodimer proportions were: 43.3 +/- 1.5, 33.5 +/- 2.3, and 15.8 +/- 1.1% for 2, 3, and 4 respective alpha genes which had been studied in 8/11 of the patients (r = 0.98), implying that the prime determinant of the proportion of hybrid heterodimers in this patient group is the number of functional alpha genes. PMID:11045763

  11. Screening of β-thalassemia trait and other hemoglobinopathies among blood donors in Punjab

    Directory of Open Access Journals (Sweden)

    Rajesh Kumar

    2015-01-01

    Full Text Available Introduction: Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. The cumulative gene frequency of hemoglobinopathies in India is 4.2%. The carrier state for β-thalassemia in India varies from 1% to 17% with an average of 3.2%. The present study was undertaken to find out the burden of hemoglobinopathies and spectrum of this disorders among the blood donors. Materials and Methods: The study includes 975 students between 18 and 25 years who donated blood, were screened for β-thalassemia trait and related hemoglobinopathies by high-performance liquid chromatography (HPLC using Bio-Rad variant. Samples were also run on a hemato analyzer for red cell indices and peripheral smear for red cell morphology. Results: A total of 41 donors showed abnormal hemoglobin fractions in HPLC. Out of these, 32 (3.3% were diagnosed with β-thalassemia trait, 8 (0.8% with Hb-D Punjab and 1 (0.1% with Hb-S trait. The frequency of β-thalassemia trait in the student from different geographical regions varied from 0.8% to 4.44%, being the highest in those from Punjab and frequency of β-thalassemia trait in different caste groups varied from 0 to 4.74%, being the highest in the student from Jatt Sikh community. Conclusions: A universal approach of screening for β-thalassemia trait should be included as a part of standard blood testing among the college students, premarital and of the extended family of thalassemics. Population group with high gene frequencies requires screening programs as well as increased awareness and education program to control the birth of thalassemia major.

  12. Evaluation of QT interval in β thalassemia major patients in comparison with control group

    Directory of Open Access Journals (Sweden)

    Behzad Farahani

    2012-01-01

    Full Text Available Background: Cardiac complications are the primary cause of death in patients with b thalassemia major. QTc interval is an indicator of variability of ventricular repolarization and is supposed to be prominent in high risk patients. The aim of this investigation was to evaluate the relationship between QTc interval in β thalassemia major in comparison with the control group. Patients and Methods: Sixty β thalassemia major and intermadia patients were enrolled in this analytical cross-sectional study. Thalassemia major and intermadia patients with no clinical symptoms of cardiac disease underwent echocardiographic and stress tests. QTc interval, blood pressure, heart rate, and average serum ferritin levels were measured. Statistical analysis was performed using version 15 SPSS. Results: Although there was no clinical or echocardiographic sign of cardiac disease and QTc intervals measured before the test were not significantly different between patients and control group (421.7 ± 29.6 vs. 412.4 ± 28.2, P = 0.06, we found that, during stress test, QTc intervals (452.7 ± 30.8 vs. 410.2 ± 26.2, P < 0.001 and heart rate (105 ± 15.1 vs. 89.7 ± 12.3, P < 0.001 were notably greater in β thalassemia major patients compared to the control group, respectively. Conclusion: We found augmented QTc intervals in this group of thalassemia major patients who have neither clinical nor electrocardiographic and gross echocardiographic signs of cardiac disease. QTc interval can be helpful in the cardiac assessment of thalassemia major patients.

  13. Perspectives on the CAP Theorem

    OpenAIRE

    Gilbert, Seth; Lynch, Nancy Ann

    2012-01-01

    Almost twelve years ago, in 2000, Eric Brewer introduced the idea that there is a fundamental trade-off between consistency, availability, and partition tolerance. This trade-off, which has become known as the CAP Theorem, has been widely discussed ever since. In this paper, we review the CAP Theorem and situate it within the broader context of distributed computing theory. We then discuss the practical implications of the CAP Theorem, and explore some general techniques for coping with the i...

  14. Novel Multipin Electrode Cap System for Dry Electroencephalography.

    Science.gov (United States)

    Fiedler, P; Pedrosa, P; Griebel, S; Fonseca, C; Vaz, F; Supriyanto, E; Zanow, F; Haueisen, J

    2015-09-01

    Current usage of electroencephalography (EEG) is limited to laboratory environments. Self-application of a multichannel wet EEG caps is practically impossible, since the application of state-of-the-art wet EEG sensors requires trained laboratory staff. We propose a novel EEG cap system with multipin dry electrodes overcoming this problem. We describe the design of a novel 24-pin dry electrode made from polyurethane and coated with Ag/AgCl. A textile cap system holds 97 of these dry electrodes. An EEG study with 20 volunteers compares the 97-channel dry EEG cap with a conventional 128-channel wet EEG cap for resting state EEG, alpha activity, eye blink artifacts and checkerboard pattern reversal visual evoked potentials. All volunteers report a good cap fit and good wearing comfort. Average impedances are below 150 kΩ for 92 out of 97 dry electrodes, enabling recording with standard EEG amplifiers. No significant differences are observed between wet and dry power spectral densities for all EEG bands. No significant differences are observed between the wet and dry global field power time courses of visual evoked potentials. The 2D interpolated topographic maps show significant differences of 3.52 and 0.44% of the map areas for the N75 and N145 VEP components, respectively. For the P100 component, no significant differences are observed. Dry multipin electrodes integrated in a textile EEG cap overcome the principle limitations of wet electrodes, allow rapid application of EEG multichannel caps by non-trained persons, and thus enable new fields of application for multichannel EEG acquisition. PMID:25998854

  15. Rare association between two genetic conditions: turner syndrome and beta thalassemia minor

    Directory of Open Access Journals (Sweden)

    Dorina STOICANESCU

    2009-11-01

    Full Text Available Rare disorders are defined as diseases, including those of genetic origin, which are life-threatening or chronically debilitating, which are of such low prevalence that special combined efforts are needed to address them. We present a case with a rare association between two genetic conditions: Turner phenotype and beta thalassemia minor. Turner syndrome is a chromosomal disorder that is characterized by the absence of all or part of a second sex chromosome in some or all cells. This condition occurs in 1 in 2,500 to 3,000 girls. The physical features include webbing of the neck, short stature, delayed growth of the skeleton, broad chest, cardivascular abnormalities and gonadal dysgenesis. Women with this disorder are usually infertile due to ovarian failure. The clinical diagnosis was confirmed by the cytogenetic and by FISH analysis, which revealed the presence of only one X chromosome. Treatment may include human growth hormone and estrogen replacement therapy. On the other hand, thalassemias are genetic conditions that result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer, leading to decreased and defective production of hemoglobin. Beta thalassemia syndromes are hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. Beta thalassemia is inherited in an autosomal recessive manner. Thalassemia minor usually presents as an asymptomatic mild microcytic anemia, but our case also had splenomegaly and required splenectomy.

  16. Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera.

    Science.gov (United States)

    Casu, Carla; Oikonomidou, Paraskevi Rea; Chen, Huiyong; Nandi, Vijay; Ginzburg, Yelena; Prasad, Princy; Fleming, Robert E; Shah, Yatrik M; Valore, Erika V; Nemeth, Elizabeta; Ganz, Tomas; MacDonald, Brian; Rivella, Stefano

    2016-07-14

    In β-thalassemia and polycythemia vera (PV), disordered erythropoiesis triggers severe pathophysiological manifestations. β-Thalassemia is characterized by ineffective erythropoiesis, reduced production of erythrocytes, anemia, and iron overload and PV by erythrocytosis and thrombosis. Minihepcidins are hepcidin agonists that have been previously shown to prevent iron overload in murine models of hemochromatosis and induce iron-restricted erythropoiesis at higher doses. Here, we show that in young Hbb(th3/+) mice, which serve as a model of untransfused β-thalassemia, minihepcidin ameliorates ineffective erythropoiesis, anemia, and iron overload. In older mice with untransfused β-thalassemia, minihepcidin improves erythropoiesis and does not alter the beneficial effect of the iron chelator deferiprone on iron overload. In PV mice that express the orthologous JAK2 mutation causing human PV, administration of minihepcidin significantly reduces splenomegaly and normalizes hematocrit levels. These studies indicate that drug-like minihepcidins have a potential as future therapeutics for untransfused β-thalassemia and PV. PMID:27154187

  17. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran.

    Science.gov (United States)

    Najmabadi, Hossein; Ghamari, Alireza; Sahebjam, Farhad; Kariminejad, Roxana; Hadavi, Valeh; Khatibi, Talayeh; Samavat, Ashraf; Mehdipour, Elaheh; Modell, Bernadette; Kariminejad, Mohammand Hassan

    2006-01-01

    For 14 years, Iranian scientists have worked to develop a national thalassemia prevention program. Although historically abortion was considered unacceptable in Iran, intensive consultations led to the clerical approval of induced abortion in cases with beta-thalassemia major in 1997, and a nationwide prevention program with screening, counseling and prenatal diagnosis (PND) networks has been developed. This paper reports the experience from one of the two national PND reference laboratories. As one of the oldest reference laboratories, we performed a total of 906 PND in 360 couples at risk for thalassemia from 1990 to 2003. Direct and indirect mutation detection methods were applied for all cases. In total, 22 mutations were tested routinely, and an additional 30 rare mutations were identified. 208 fetuses were found to be normal, 215 fetuses had beta-thalassemia major, and 435 fetuses were carriers of the trait. In 40 cases, we only defined one allele. In 8 cases, we were unable to provide any diagnosis, corresponding to 0.9%. Our data support the functionality of the Iranian beta-thalassemia prevention program. The success of this system in Iran, a multiethnic and Islamic-based country, would mean that it might be applied as an adaptive system for neighboring and other Islamic countries. PMID:16612059

  18. Association of genetic variations in the mitochondrial D-loop with β-thalassemia.

    Science.gov (United States)

    Jamali, Leila; Banoei, Mohammad Mehdi; Khalili, Elham; Dadgar, Sepideh; Houshmand, Massoud

    2016-05-01

    Beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of β-globin chains. Patients with β-thalassemia show weak genotype-phenotype correlations. Mitochondrial DNA polymorphisms are a potential source for different physiological and pathological characteristics and have been found to be associated as genetic modifiers with various pathophysiologies, including cancers and neurodegenerative diseases. A group of 35 patients with β-thalassemia was investigated for the presence of mtDNA D-loop polymorphisms in comparison with 504 normal controls. We found four mtDNA D-loop polymorphisms at nucleotides 16,069C > T, 16,189T > C, 16,319G > A, and 16,519T > C that showed significant differences between patients and normal subjects. There is no strong proof for the association of these polymorphisms with β-thalassemia. It is hypothesized that iron overload or its effects on sequestration of calcium or zinc can lead to oxidative stress and ROS production inside the mitochondria. Therefore, possible accompanying of mtDNA polymorphisms with β-thalassemia disease may complicate the genotype-phenotype correlation and could affect the clinical outcomes in the patients. PMID:25230702

  19. Coincidence of Niemann-Pick Disease and Beta-Thalassemia; a Case Report

    Directory of Open Access Journals (Sweden)

    Mina Izadyar

    2010-12-01

    Full Text Available Background: Niemann-Pick disease and β-thalassemia are distinct conditions with specific clinical and morphological manifestations. β-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country.Case Presentation: This 5-month old girl, a known case of β-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance that was not compatible with the first diagnosis, further evaluation revealed cherry red spot and high lipid profile suggestive of lysosomal storage disease. Foamy cells in the bone marrow and low activity of the specific enzyme led to the diagnosis of Niemann-Pick disease.Conclusion: This unique case illustrates the importance of looking for a second pathological condition in a patient whose clinical profile does not support the first diagnosis in its entirety.

  20. A Cross Sectional Study Of Thalassemia In Ahmedabad City, Gujarat. (Hospital based

    Directory of Open Access Journals (Sweden)

    Shrenik Talsania

    2011-01-01

    Full Text Available Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy is a qualitative problem of synthesis of an incorrectly functioning globin. The present study was undertaken with objective to study the occurrence and socio-demographic profile of thalassemia cases. There were 223 patients (55 from Municipal Corporation Hospitals & 168 from New civil hospital, Ahmedabad admitted in the hospitals during January 2006 to March 2009.Majority of patients were males, from 1-5 year age group and from Hindu community. Majority of patients from corporation hospitals had more frequency of blood transfusion compared to government hospital. Thalassemia major cases were higher compared to minor.

  1. Compound heterozygote state for GgammaAgamma(deltabeta) degrees -thalassemia and hereditary persistence of fetal hemoglobin.

    Science.gov (United States)

    Fucharoen, Supan; Panyasai, Sitthichai; Surapot, Satja; Fucharoen, Goonnapa; Sanchaisuriya, Kanokwan

    2005-10-01

    We report a hitherto undescribed interaction of a deletional (deltabeta) degrees -thalassemia and a deletional hereditary persistence of fetal hemoglobin (HPFH) in an adult Thai individual. He was a 40-year-old Thai male who had the following hematologic data: Hb 13.9 g/dL, Hct 43.8%, MCV 78.0 fL, MCH 24.7 pg, MCHC 31.6 g/dL, and RDW 17.1%. Hemoglobin analysis revealed 97% Hb F with Ggamma-globin chain predominant. Globin gene analyses demonstrated that he carried the GgammaAgamma(deltabeta) degrees -thalassemia deletion in trans to the HPFH-6. Hematologic data of the patient were compared to those of the heterozygotes for these high-Hb F determinants found in his parents and an unrelated Thai patient with a compound HPFH-6/deletion-inversion Ggamma(Agammadeltabeta) degrees -thalassemia previously described. PMID:16184575

  2. Alpha-cyclodextrins reversibly capped with disulfide bonds

    Czech Academy of Sciences Publication Activity Database

    Kumprecht, Lukáš; Buděšínský, Miloš; Bouř, Petr; Kraus, Tomáš

    2010-01-01

    Roč. 34, č. 10 (2010), s. 2254-2260. ISSN 1144-0546 R&D Projects: GA AV ČR IAA400550810 Institutional research plan: CEZ:AV0Z40550506 Keywords : cyclodextrin s * disulfide bond * dynamic covalent bond Subject RIV: CC - Organic Chemistry Impact factor: 2.631, year: 2010

  3. Human T cell lymphotropic virus type 1 infection among U.S. thalassemia patients.

    Science.gov (United States)

    Switzer, William M; Shankar, Anupama; Trimble, Sean R; Thompson, Alexis A; Giardina, Patricia J; Cohen, Alan R; Coates, Thomas D; Vichinsky, Elliott; Neufeld, Ellis J; Boudreaux, Jeanne M; Heneine, Walid

    2013-07-01

    Thalassemia is an inherited genetic disorder requiring multiple transfusions to treat anemia caused by low hemoglobin levels. Thus, thalassemia patients are at risk for infection with blood-borne pathogens, including human T cell lymphotropic viruses (HTLV) that are transmitted by transfusion of cellular blood products. Here, we examined the prevalence of HTLV among 234 U.S. thalassemia patients using sera collected in 2008. Sera were tested for antibodies to HTLV-1/2 using enzyme immunoassay (EIA) and a confirmatory western blot (WB) that differentiates between HTLV-1 and HTLV-2. Demographic information and clinical information were collected at study enrollment, including HIV and hepatitis C virus (HCV) status. Three patients (1.3%) were WB positive; two were HTLV-1 and one could not be serotyped as HTLV-1/2. All three HTLV-positive persons were HIV-1 negative and one was HCV seropositive. The HTLV seroprevalence was higher than that of HIV-1 (0.85%) and lower than HCV (18.8%) in this population. All three patients (ages 26-46 years) were diagnosed with β-thalassemia shortly after birth and have since been receiving multiple transfusions annually. Two of the HTLV-positive patients confirmed receiving transfusions before HTLV blood screening was implemented in 1988. We identified a substantial HTLV-1 seroprevalence in U.S. thalassemia patients that is much greater than that seen in blood donors. Our findings highlight the importance of HTLV testing of patients with thalassemia and other diseases requiring multiple transfusions, especially in recipients of unscreened transfusions. In addition, appropriate counseling and follow-up of HTLV-infected patients are warranted. PMID:23409829

  4. Phosphoproteomic analysis of apoptotic hematopoietic stem cells from hemoglobin E/β-thalassemia

    Directory of Open Access Journals (Sweden)

    Roytrakul Sittiruk

    2011-06-01

    Full Text Available Abstract Background Hemoglobin E/β-thalassemia is particularly common in Southeast Asia and has variable symptoms ranging from mild to severe anemia. Previous investigations demonstrated the remarkable symptoms of β-thalassemia in terms of the acceleration of apoptotic cell death. Ineffective erythropoiesis has been studied in human hematopoietic stem cells, however the distinct apoptotic mechanism was unclear. Methods The phosphoproteome of bone marrow HSCs/CD34+ cells from HbE/β-thalassemic patients was analyzed using IMAC phosphoprotein isolation followed by LC-MS/MS detection. Decyder MS software was used to quantitate differentially expressed proteins in 3 patients and 2 normal donors. The differentially expressed proteins from HSCs/CD34+ cells were compared with HbE/β-thalassemia and normal HSCs. Results A significant change in abundance of 229 phosphoproteins was demonstrated. Importantly, the analysis of the candidate proteins revealed a high abundance of proteins that are commonly found in apoptotic cells including cytochrome C, caspase 6 and apoptosis inducing factors. Moreover, in the HSCs patients a significant increase was observed in a specific type of phosphoserine/threonine binding protein, which is known to act as an important signal mediator for the regulation of cell survival and apoptosis in HbE/β-thalassemia. Conclusions Our study used a novel method to investigate proteins that influence a particular pathway in a given disease or physiological condition. Ultimately, phosphoproteome profiling in HbE/β-thalassemic stem cells is an effective method to further investigate the cell death mechanism of ineffective erythropoiesis in β-thalassemia. Our report provides a comprehensive phosphoproteome, an important resource for the study of ineffective erythropoiesis and developing therapies for HbE/β-thalassemia.

  5. The Prevalence of Hypoparathyroidism Among Patients with Major Thalassemia Aged Above 10 years

    Directory of Open Access Journals (Sweden)

    F Khoshhal Dehder

    2005-09-01

    Full Text Available Background: Major Thalassemia is a chronic hemolytic anemia. It is the most common hemoglobinophathy disorder in Khuzestan province. Hypoparathyroidism is one of its endocrinologic complications due to Iron deposition especially in the second decade of life. Early diagnosis of this complication could prevent other sever disorders such as seizures, osteopenia, and osteoporsis. Methods: In a cross sectional study, 96 patients with major thalassemia at the age above ten years referred to Shafa Thalassemia Center, Ahwaz, in addition information about age, sex, weight, height, duration and route of desferral injection, duration of transfusion therapy, vitamin D and calcium consumption, social and educational level of parents, history of splenectomy, any history of seizures, tingling, chvostek, trousseau, carpopedal signs, plasma level of calcium, phosphorus, alkaline phpsphatase, PTH, BUN, Cr, ferritin, and total protein were obtained using questionnaires. Findings: In ninety–six patients with major thalassemia the prevalence of hypoparathyroidism was %27/1 in 11-39 year- olds (average 19.3 years. All patients had low serum calcium, PTH, high serum phosphorus and low to normal alkaline phosphatase. In 26 patients with hypoparathyraidism, 46% had tingling, 38.4% positive chvostek, 30.7% positive trousseau and 11.5% carpopedal spasm. 69.2% of the patients had only sign, whereas 30.8% showed clinically no signs. The average level of serum ferritin in thalassemia patients without hypoparathyroidism was 2770 ng/ml, in hypoparathyroid patients 5020 ng/ml. From 10 patients with irregular desferral consumption 7 patients had overt hypoparthyroidism. Significant correlation was seen between irregular desferral consumption, high ferritin level and hypoparathyroidism. Conclusions: Screening for hypoparathyroidism is recommended in children with major thalassemia aged above 15 years once every 6 months or yearly with measurement of plasma level of PTH, Ca and

  6. β-Thalassemia Intermedia in Northern Iraq: A Single Center Experience

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    Nasir A. S. Al-Allawi

    2014-01-01

    Full Text Available To investigate the molecular basis of β-thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their β-thalassemia mutations characterized, as well as the number of α-globin genes and Xmn I Gγ −158 (C>T polymorphism studied. Out of 14 β-thalassemia mutations identified, the four most common were IVS-I-6 (T>C [33.3%], IVS-II-I (G>A [21.1%], codon 82/83(−G [10.1%], and codon 8 (−AA [8.1%]. The most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild β-thalassemia alleles and the Xmn I polymorphism, while concomitant α-thalassemia had a limited role. Several complications were documented including: pulmonary hypertension in 20.4%, diabetes mellitus in 1.4%, hypothyroidism in 2.9%, and heart failure in 2.7%, while no documented cases of venous thrombosis were found. Compared to their counterparts in several Mediterranean countries, it appears that our patients were much less frequently transfused and had a lower proportion of patients who were splenectomized, on iron chelation, or hydroxycarbamide therapy. Such practices require further scrutiny to ensure that a better level of care is provided and that growth retardation, skeletal changes, and other complications are prevented or reduced.

  7. Birth of healthy children after preimplantation diagnosis of β-thalassemia

    Institute of Scientific and Technical Information of China (English)

    焦泽旭; 庄广伦; 周灿权; 舒益民; 李洁; 梁晓燕

    2004-01-01

    Background Clinical programs for preventing β-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with β-thalassemia.Methods A couple carrying different thalassemia mutations, both a codon 41-42 mutation and the IVS Ⅱ 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.Results Of a total of 13 embryos analyzed for β-globin mutations, PGD indicated that 2 were normal,3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.Conclusions We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of β-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed β-thalassemia free children in China. PEP was used here in PGD for β-thalassemia.

  8. Frequency of thalassemia carrier and Hb variant and the quality of stored donor blood

    OpenAIRE

    Eva A. Maharani; Yuyun S.M. Soedarmono; Nainggolan, Ita M.

    2015-01-01

    Background: This study was aimed to determine the frequency of thalassemia and Hb variant in blood donor. In addition, we also wanted to know the quality of blood from the donor up to seven days of storage, by calculating percentage of hemolysis in vitro.Methods: This cross-sectional study was conducted on 138 blood donor specimens at Red Cross Blood Centre Unit in Jakarta. All specimens were tested for thalassemia and Hb variant by complete blood count (CBC) and Hb analysis with HPLC method ...

  9. Spinal cord compression in β-thalassemia: follow-up after radiotherapy

    International Nuclear Information System (INIS)

    Spinal cord compression due to extramedullary hematopoiesis is a well-described bu rare syndrome encountered in several hematologic disorders, including β-thalassemia. We report a case of a patient with intermediate β-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms. (author)

  10. the characterization of exon-1 mutation(s) of beta globin gene in beta thalassemia

    International Nuclear Information System (INIS)

    β-thalassemia constitutes one of the most serious health problems worldwide, it is the most common chronic hemolytic anemia in egypt. the aim of this work is to study the mutations of exon-1 of β-globin gene in β-thalassaemic children in sharkia governorate. the present study was included 25 healthy children and 50 patients diagnosed as β-thalassemia. this work showed that the thalassaemic patients had significantly decrease in Hb conc . than the control group (p 2 showed a significant increase as compared with the control group

  11. Improving Outcome of Thalassemia with Hematopoetic Stem Cell Transplantation: An Experience of Gujarat Cancer Research Institute.

    Science.gov (United States)

    Raut, Shreeniwas; Shah, Sandip; Shah, Kamalesh; Patel, Kinnari; Talati, Shailesh; Parikh, Sonia; Anand, Asha; Panchal, Harsha; Patel, Apurva

    2016-09-01

    Total 26 children of thalassemia underwent hematopoetic stem cell transplantation from September 2006 to December 2014. Out of these 17 were matched sibling transplantation (MST) and 9 were unrelated umbilical cord blood transplantation (UCT). Median age was 4 years. At a median follow up of 46.5 months, 12 of 17 (70 %) MST and 3 out of 9 (33.33 %) UCT were cured of thalassemia. Three (11.53 %) patients died due to transplant related mortality. Average cost of MST was 6 lakhs and that of UCT was 20 lakhs. PMID:27429520

  12. Deficient activity of the alternative pathway of complement in beta thalassemia major.

    Science.gov (United States)

    Corry, J M; Marshall, W C; Guthrie, L A; Peerless, A G; Johnston, R B

    1981-06-01

    Patients with thalassemia major suffer frequent and serious infections, especially after splenectomy. To explore the basis for this susceptibility, we examined activity of the complement system in sera from 24 patients. All sera had normal or increased activity of the classic complement pathway. However, six of the 24 (three with and three without splenectomy) had abnormal alternative pathway function, and mean alternative pathway activity was significantly decreased in both splenectomized and nonsplenectomized patients. Mean concentrations of C3, factor B, properdin, and immunoglobulins were normal. Defective alternative pathway function, especially in conjunction with asplenia, could contribute to the propensity to infection that exists in thalassemia. PMID:6908998

  13. Causes of New Cases of Major Thalassemia in Sistan and Balouchistan Province in South-East of Iran

    Directory of Open Access Journals (Sweden)

    S Izadi

    2012-11-01

    Full Text Available Background: Thalassemia is the most common monogenic disease in South-East of Iran. Despite the 70% reduction in Iranian thalassemia cases after thalassemia control comprehensive program, 601 affected babies were born in Sistan and Balouchistan Province, Iran from 2002 to 2010, so this study aims at investigating the causes of new thalassemia cases.Methods: Data from this retrospective cross-sectional study was collected through interviews and information in the patients’ hospital records.Results: Data revealed that 52.4% of fathers and 78.4% of mothers of thalassemic children had elementary education or less. In addition, 78.6% of the couples did not undergo premarital screening for thalassemia and 71.2% of the couples were not notified of their own minor thalassemia until a child was born with major thalassemia. Of the diagnosed minor couples, about 25% did PND and the others did not carry out because mothers were unaware of proper gestational age and of the importance of this issue, financial problems, and the husbands’ disagreement to take the tests. Moreover, 16 mothers, in spite of being diagnosed of having a major fetus, refused to terminate the pregnancy.Conclusion: The most preventable causes for affected births include couples’ unawareness of being minor and unawares of the PND importance and process.

  14. OPAL detector end-cap

    CERN Multimedia

    1988-01-01

    An end-cap of the OPAL detector with its electromagnetic calorimeter. The calorimeter consists of 566 Cherenkov lead glass counters and weighs 10 tonnes. The OPAL detector ran on the LEP accelerator between 1989 and 2000.

  15. ATLAS - End-Cap calorimeter

    CERN Multimedia

    2006-01-01

    The End-cap calorimeter was moved with the help of the rails and this calorimeter will measure the energy of particles close to the beam axis when protons collide. Cooling is important for maximum detector efficiency.

  16. Researchers dodge UK migration cap

    Science.gov (United States)

    Dacey, James

    2011-03-01

    Research scientists are among those to be prioritized under the UK government's new immigration rules that will impose an annual cap on the number of work visas issued to those from outside the European Union (EU).

  17. Genetics Home Reference: cap myopathy

    Science.gov (United States)

    ... or a spine that curves to the side ( scoliosis ). The name cap myopathy comes from characteristic abnormal ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  18. Chorionic Villus Sampling Complications in Prenatal Diagnosis of Thalassemia Major

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    R Monzavi Sani

    2010-10-01

    Full Text Available Background/Objective: Early diagnosis of thalassemia with chorionic villus sampling has an important role in fetal evaluation. Because of the increasing risk of fetal loss and other probable risks, it seems there are some considerations about the safety of this method. Since different studies have mentioned variable complications of this method for the mother and her fetus and also the fact that this information is limited in most areas of our country, this study was performed to compare the complications of this procedure with other reports."nPatients and Methods: This prospective case series study was performed in the chorionic villus sampling (CVS center of Zahedan University of Medical Sciences from October 2003 till July 2006. One-hundred thirty seven patients who were referred to this center were sampled and examined by sonography regarding early complications of CVS in mothers and fetuses and deformities in their neonates. "nResults: The most common early complication of CVS was subchorionic hematoma (6.5%, of which one case finally resulted in placenta abruption and abortion. The fetal loss rate after CVS was the same as the abortion rate following subchorionic hematoma. In this study, we did not find any chorioamnionitis, oligohydramnios and fetal loss during the sampling. Furthermore, in the follow up control of their neonates, there were neither limb deficiency and oromandibular defects nor cutaneous hemangioma."nConclusion: Results show that minor complications of CVS such as subchorionic hematoma can be dangerous and may increase the risk of fetal loss. In addition, this study agrees that sampling after 10 weeks of pregnancy on the hands of an expert is a safe procedure.    

  19. Evaluation of Bone Mineral Density in Children with Thalassemia Major

    Directory of Open Access Journals (Sweden)

    Betül Bakan

    2012-12-01

    Full Text Available Aim: Fragile bones develop due to various factors in thalassemic patients. Even with optimum management, osteoporosis occurs, contributing to morbidity in majority of patients with thalassemia major (TM. Our aim was to evaluate bone health of thalassemic children using biochemical parameters and bone mineral density (BMD, and to emphasize the precautionary measures and early diagnosis of osteoporosis. Material and Methods: Thirteen children (5 females, 8 males, age <18 years with TM were included in the study. Age, duration, weight, height, transfusion frequency, medication use were recorded. Following laboratory analysis were obtained: Whole blood count, fasting blood glucose, ferritin, alanine aminotransferase, aspartate aminotransferase, calcium, phosphorus, alkaline phosphatase, thyroid stimulating hormone, free thyroxin, and intact parathyroid hormone (iPTH. BMD was determined using dual energy X-ray absorptiometry (DXA from femur and lumbar vertebrae. Patients with DXA Z-score <-2 was defined as osteoporotic. Results: The mean age was 7.85±3.17 years and body mass index (BMI was 14.68±1.93 kg/m2. The rest of the results were as follows: Lumbar BMD 0.464±0.108 g/cm2; total femur BMD 0.581± 0.114 g/cm2; lumbar DEXA Z-score 2.44±1.60; total femur DEXA -0.93±1.19. Osteoporosis ratio was determined as 69% in the lumbar vertebrae and 10% in the femur. A significant positive correlation was found between lumbar-femoral BMD and BMI, and a significant negative correlation was observed between femoral BMD and iPTH. Conclusion: BMD is low in thalassemic children. Despite regular transfusions and chelation therapy, osteoporosis starts early in life. (Turkish Journal of Osteoporosis 2012;18: 72-7

  20. Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications

    Directory of Open Access Journals (Sweden)

    Saqib H Ansari

    2012-01-01

    Full Text Available Background: β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. Aim: To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Materials and Methods: Over a 5-year period, DNA from 648 blood samples {including specimens of chorionic villus sampling (CVS} were analyzed for the twelve most common β-thalassemia mutations found in the Pakistani population by a Multiplex amplification refractory mutation system (ARMS. Each sample was analyzed for the mutation as well as the normal gene, appropriate with negative and positive controls, and reagent blanks. Results: Out of 648 samples mutations were identified in 640 (98.75% samples by multiplex ARMS. 8 common β-thalassemia mutations were identified in 8 different ethnic groups accounting for 93.9% of the β-thalasemia alleles. Conclusions: Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.

  1. Evolution of a genetic disease in an ethnic isolate:. beta. -Thalassemia in the Jews of Kurdistan

    Energy Technology Data Exchange (ETDEWEB)

    Rund, D.; Cohen, T.; Filon, D.; Rachmilewitz, E.; Oppenheim, A. (Hadassah Univ. Hospital, Jerusalem (Israel)); Dowling, C.E.; Warren T.C.; Kazazian, H.H. Jr. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)); Barak, I. (Kaplan Hospital, Rehovot (Israel))

    1991-01-01

    {beta}-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the {beta}-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of {beta}-thalassemia-the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. The authors traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. They conclude that several evolutionary mechanisms contributed to the evolution of {beta}-thalassemia in this small ethnic isolate.

  2. [Illness knowledge, social support and self care behavior in adolescents with beta-thalassemia major].

    Science.gov (United States)

    Yang, H C; Chen, Y C; Mao, H C; Lin, K H

    2001-04-01

    The purpose of this study was to explore the relationships among illness knowledge, social support and self-care behavior in adolescents with beta-thalassemia major. The subjects were 58 beta-thalassemia major adolescents recruited from the pediatric hematology outpatient departments of three hospitals in North Taiwan. All data were analyzed by descriptive statistics, one-way ANOVA, t-test, Pearson correlation, and stepwise multiple regression. The results showed that: (1) Scoring in illness knowledge, the best was treatment knowledge, and the worst was the knowledge of complications and symptoms. (2) The result for social support indicated that the family was the major source of support, and that classmates/friends provided the least support for thalassemic adolescents. (3) Scoring in self care behavior, the best was the medical and chelate therapy, and the worst was the management of problems and coping. (4) Individual characteristic differences, including sex, level of education, length of illness, complications of thalassemia, hospitalization due to thalassemic complications and receiving other treatments were correlated with their illness knowledge, social support or self-care behavior. (5) Illness knowledge, social support which were positively correlated with self-care behavior. (6) 50.0% of the variance in self-care behavior can be explained by emotional support from family, general knowledge of thalassemia, treatment knowledge and appraisal support from family. These findings could provide referential material for nursing research and nursing practice. PMID:11548457

  3. Klotho, a new marker for osteoporosis and muscle strength in β-thalassemia major.

    Science.gov (United States)

    Baldan, Alessandro; Giusti, Andrea; Bosi, Cristina; Malaventura, Cristina; Musso, Marco; Forni, Gian Luca; Volpato, Stefano; Zuliani, Giovanni; Borgna-Pignatti, Caterina

    2015-12-01

    Aim of this study was to compare plasma levels of the secreted protein Klotho in β-thalassemia major patients and in healthy controls. Also, we examined the existence of correlations between the protein level and osteoporosis, poor muscle strength and fractures. A total of 106 patients with β-thalassemia major and 95 healthy blood donors were enrolled. Klotho level in plasma was measured by mean of an ELISA test and the hand-grip strength using a dynamometer. Intact parathyroid hormone (PTH), 25-hydroxy vitamin D (Vitamin D), serum calcium (Ca), phosphate (P), total alkaline phosphatase (ALP), ferritin, creatinine were measured by standard clinical techniques. DXA was used to measure bone mineral density (BMD) at the lumbar spine (L2-L4), femoral neck and total hip. We found that the Klotho protein concentration was lower in the blood of patients with β-thalassemia major than in healthy controls, and it was directly correlated to the hand-grip strength. In β-thalassemia major patients, the secreted Klotho was lower than in healthy controls. The preliminary investigation into the correlation between markers of osteo- and sarcopenia and Klotho demonstrated a decreased Klotho concentration in β-TM patients and a higher probability of having had fragility fractures. PMID:26460265

  4. Fe-52 imaging of intrathoracic extramedullary hematopoiesis in a patient with beta-thalassemia.

    Science.gov (United States)

    Adams, B K; Jacobs, P; Byrne, M J; Bird, A R; Boniaczszuk, J

    1995-07-01

    Fe-52 scintigraphy was used to confirm extramedullary hematopoiesis in a patient with beta-thalassemia and intrathoracic masses. Imaging was performed on a standard gamma camera with a high-energy collimator. Tc-99m labeled tin colloid and In-111 chloride scintigraphy failed to reveal uptake by the masses. The exclusion of malignancy obviated the need for invasive diagnostic measures. PMID:7554666

  5. Expression of CD55 on red blood cells of β-thalassemia patients.

    Science.gov (United States)

    Obaid, Jamil M A S; Abo El-Nazar, Salma Y; Ghanem, Amal M; El-Hadidi, Abeer S; Mersal, Basma H M

    2014-01-01

    CD55 is a complement regulatory protein expressed by cells to protect them from bystander lysis by complement. It prevents the formation of C3/C5 convertase. In β-thalassemia (β-thal), the defective hemoglobin (Hb) production makes red blood cells (RBCs) lyse early and frequently. Loss of CD55 expression in those patients compromises the complement regulatory function, thereby accelerating RBC lysis. In this study, we aimed to evaluate the expression of CD55 on erythrocytes of β-thal patients. Flow cytometry analysis of CD55 was conducted on RBCs of 21 β-thalassemia major (β-TM) patients, 11 β-thalassemia intermedia (β-TI) patients and 10 healthy volunteers. The results showed a significant decrease in CD55 expression in β-TM (57.5 ± 16.7%), while there was a slight decrease in β-TI patients (81.8 ± 3.8%) in comparison with that of the normal controls (88.7 ± 0.8%). The diminished expression of CD55 was not accompanied by decrease in CD59 expression in β-thal patients (97.2 ± 2.3%). This could suggest a mechanism (could be genetic) responsible for low CD55 expression. It may be related to defective Hb genes in thalassemia, but it does not relate to cell membrane changes. PMID:25026028

  6. [Assessment of endogenous intoxication and thrombocyte functions in beta-thalassemia].

    Science.gov (United States)

    Orudzhev, A G; Guseĭnova, E E; Khalilova, I S; Dzhavadov, S A

    2003-03-01

    The parameters of humeral immunity and of the aggregation function of blood platelets were comparatively analyzed in 11 healthy and 26 children with beta-thalassemia; 18 of them had beta-thalassemia of the homozygous type (spleen was extracted in 8 children, and it remained intact in 10 children). It was demonstrated that there was an increased quantity of antibodies to blood platelets and an increased quantity of large, medium-size and small circulating immune complexes in patients with beta-thalassemia and especially in those, who did not undergo splenectomy; there was also an increased quantity of immunoglobulins of classes A, M, and G, a reduced total activity of the complement and a high parameter of the degree of endogenous intoxication, i.e. the content of medium-size molecular peptides. The mentioned disorders were accompanied by worsened aggregation abilities of blood platelets and by their increased disaggregation. Finally, insignificant changes were detected in patients with beta-thalassemia of the heterozygous type. PMID:12715396

  7. Alpha fetoprotein

    Science.gov (United States)

    Fetal alpha globulin; AFP ... Greater than normal levels of AFP may be due to: Cancer in testes , ovaries, biliary (liver secretion) tract, stomach, or pancreas Cirrhosis of the liver Liver cancer ...

  8. Prevalence of Beta-Thalassemia in premarital screening in Al-Hassa, Saudi Arabia

    International Nuclear Information System (INIS)

    The Al-Hassa area is one of the regions in Saudi Arabia where hemoglobinopathies are prevalent. The Saudi Ministry of Health designed a protocol for premarital testing after the royal decree in December 2003. The protocol was implemented in a February 2004 order. The aim of this study was to determine the prevalence of beta-thalassemia trait among subjects coming for premarital screening in the Al-Hassa area. From February 2004 to November 2004, healthy subjects coming to six marriages consultation centers in the Al-Hassa area underwent routine mandatory tests. Subjects were considered to have beta-thalassemia trait if they had a mean corpuscular volume (MCV), 80 fL and/or a mean corpuscular hemoglobin (MCH) 3.2%. Venous blood was taken into ETDA tube and the complete blood count and red blood cell indices were measured by a Coulter automated cell counter on the same day of hemoglobin collection. Electrophoresis was done on cellulose acetate. All Saudi participants (n=8918), including 4218 (47.3%) males and 4700 (52.7%) females were screened. The prevalence of beta-thalassemia trait with high hemoglobin A2 and microcytic hypochromic anemia was 3.4% (307/8918). In countries with a high prelevance of hemoglobinopathies, a premarital screening program is helpful for identification and prevention of high-risk marriages. With a 3.4% prevalence of beta-thalassemia trait in premarital couples, future comprehensive programs are needed to know the actual prevalence of beta-thalassemia in Al-Hassa. (author)

  9. Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients

    Directory of Open Access Journals (Sweden)

    Hari Krishan Dhawan

    2014-01-01

    Full Text Available Background: The development of anti-red blood cell antibodies (both allo-and autoantibodies remains a major problem in thalassemia major patients. We studied the frequency of red blood cell (RBC alloimmunization and autoimmunization among thalassemia patients who received regular transfusions at our center and analyzed the factors, which may be responsible for development of these antibodies. Materials and Methods: The study was carried out on 319 multiply transfused patients with β-thalassemia major registered with thalassemia clinic at our institute. Clinical and transfusion records of all the patients were examined for age of patients, age at initiation of transfusion therapy, total number of blood units transfused, transfusion interval, status of splenectomy or other interventions. Alloantibody screening and identification was done using three cell and 11 cell panel (Diapanel, Bio-rad, Switzerland respectively. To detect autoantibodies, autocontrol was carried out using polyspecific coombs (IgG + C3d gel cards. Results: Eighteen patients out of total 319 patients (5.64% developed alloantibodies and 90 (28.2% developed autoantibodies. Nine out of 18 patients with alloantibodies also had autoantibodies. Age at first transfusion was significantly higher in alloimmunized than non-immunized patients (P = 0.042. Out of 23 alloantibodies, 52.17% belonged to Rh blood group system (Anti-E = 17%, Anti D = 13%, Anti-C = 13%, Anti-C w = 9%, 35% belonged to Kell blood group system, 9% of Kidd and 4% of Xg blood group system. Conclusion: Alloimmunization was detected in 5.64% of multitransfused thalassemia patients. Rh and Kell blood group system antibodies accounted for more than 80% of alloantibodies. This study re-emphasizes the need for RBC antigen typing before first transfusion and issue of antigen matched blood (at least for Rh and Kell antigen. Early institution of transfusion therapy after diagnosis is another means of decreasing

  10. Prevalence of occult hepatitis C virus infection in Iranian patients with beta thalassemia major.

    Science.gov (United States)

    Bastani, Mohammad-Navid; Bokharaei-Salim, Farah; Keyvani, Hossein; Esghaei, Maryam; Monavari, Seyed Hamidreza; Ebrahimi, Mojtaba; Garshasebi, Saba; Fakhim, Shahin

    2016-07-01

    Occult hepatitis C virus infection (OCI) is a new pathological form of chronic hepatitis virus (HCV) infection characterized by the presence of HCV RNA in liver biopsy and/or peripheral blood mononuclear cell (PBMC) specimens and the absence of HCV RNA and anti-HCV antibodies (Abs) in plasma samples. β-thalassemia major is a hereditary recessive blood disease with deficiency in the hemoglobin beta chain. Thalassemic patients need blood transfusion therapy; repeated blood transfusion increases the risk of viral blood-borne infection. The aim of this study was to determine the prevalence of OCI in Iranian patients with β-thalassemia major. From February 2015 to November 2015, a total of 147 Iranian patients with β-thalassemia major were enrolled in this cross-sectional study. After extraction of viral RNA from the plasma and PBMC samples, HCV genomic RNA in the specimens was amplified by RT-nested PCR using primers from the 5'-UTR. The HCV genotypes of the positive specimens were tested using the RFLP assay. To confirm the HCV genotypes, the 5'-UTR fragment was amplified and cloned into the pJET1.2/blunt cloning vector and then sequenced. Out of 147 patients, 106 (72.1 %) were negative for anti-HCV Abs and HCV RNA. HCV RNA was found in PBMC specimens of six (5.7 %) patients, from a total of 106 patients with undetectable plasma HCV RNA and anti-HCV Abs. Therefore, six out of 106 patients had OCI. HCV genotyping revealed that three patients were infected with HCV subtype 1b, two patients were infected with HCV subtype 3a, and one patient was infected with HCV subtype 1a. These results revealed that Iranian patients with beta-thalassemia major might have OCI. Therefore, it seems that the design of a study to identify this infection in patients with β-thalassemia major would provide valuable information. PMID:27132015

  11. EARLY PREDICTORS OF RENAL DYSFUNCTION IN Β-THALASSEMIA MAJOR AND INTERMEDIA PATIENTS

    Directory of Open Access Journals (Sweden)

    Azza A.G. Tantawy

    2004-09-01

    Full Text Available Background: Better survival of thalassemia patients allowed previously unrecognized renal complications to emerge. Objectives: Assess prevalence and early predictors of renal dysfunction in young β-thalassemia major (β-TM and intermedia (β-TI patients. Subjects: 66 β-TM (group I, 26 β-TI (group II Egyptian patients and 40 healthy controls. Methods: History, examination and investigations that included kidney function tests, serum ferritin, serum bicarbonate, plasma osmolality and urinary total proteins, microalbuminuria (MAU, N-acetyl-β-D-glucosaminidase (NAG, retinol binding protein (RBP, α-1 microglobulin, bicarbonate, osmolality, Creatinine clearance (CrCl, % fractional excretion of bicarbonate (% FE-HCO3. Results: The most common renal abnormality was proteinuria (71%, followed by increased urinary level of RBP (69.4%, NAG (58.1%, α-1 microglobulin (54.8% and microalbumin (29% and also decreased urinary osmolality (58.1%. Although serum creatinine and BUN were not statistically different between thalassemia patients and control, CrCl were significantly lowered in thalassemia patients. Total serum protein and albumin was significant lower in splenectomized β-TM, whereas urinary total protein and MAU were significantly increased in all thalassemia patients. NAG, RBP and α-1 microglobulin were negatively correlated with CrCl and positively correlated with serum ferritin and urinary total protein. Z-score analysis for discrimination of patients with renal dysfunction proved superiority of urine total protein and RBP. Comparative statistics of different frequencies revealed significant difference between the urinary total protein and both MAU and % FE-HCO3. Conclusion: Asymptomatic renal dysfunctions are prevalent in young β-TM and β-TI patients that necessitate regular screening and urinary total protein and RBP may be cost-effective for early detection.

  12. Marital Status and Fertility in Adult Iranian Patients with β-Thalassemia Major.

    Science.gov (United States)

    Miri-Aliabad, Ghasem; Fadaee, Mahsoumeh; Khajeh, Ali; Naderi, Majid

    2016-03-01

    Expecting a family is an important component and a great goal for better quality of life for most of adults with β-thalassemia major. The aim of the present study was to examine the marital status of adults with β-thalassemia major. This cross-sectional study examined the marital status of patients with transfusion-dependent β-thalassemia aged over 15 years. Patients' demographic characteristics including age, gender, marital status, duration of marriage, divorce, having or not having children and spouse's health status were recorded. Information about the disease including cardiac and endocrine complications, ferritin level, splenectomy and viral hepatitis were also recorded. Of 228 patients with transfusion-dependent β-thalassemia major aged over 15 years who were treated at this medical center, 32 (14 %) were married. The mean age of married patients was 25.18 ± 4.74 years. Among the married patients, 8 (25 %) were females and 24 (75 %) patients were males. The mean age of marriage was 22.76 ± 4.16 years. The minimum and maximum marriage age was 15 and 33 years, respectively. The median duration of marriage was one year with the range from 3 months to 11 years. Only 8 (25 %) patients (one female and seven males) had children. Therapeutic advances have led to significantly increased survival and improved quality of life and fertility of patients with β-thalassemia major. According to the results, 14 % of patients over 15 years were married which was slightly higher as compared with other similar studies. PMID:26855517

  13. A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in β-thalassemia major (CORDELIA)

    OpenAIRE

    Pennell, Dudley J; Porter, John B.; Piga, Antonio; Lai, Yongrong; El-Beshlawy, Amal; Belhoul, Khawla M.; Elalfy, Mohsen; Yesilipek, Akif; Kilinç, Yurdanur; Lawniczek, Tomasz; Habr, Dany; Weisskopf, Marianne; Zhang, Yiyun; Aydinok, Yesim

    2014-01-01

    In β-thalassemia major patients with severe iron burden, deferasirox was noninferior to deferoxamine for myocardial iron removal.The ejection fraction was stable during treatment for both deferasirox and deferoxamine.

  14. Creation of polar cap patches

    Science.gov (United States)

    Hosokawa, K.; Taguchi, S.; Ogawa, Y.

    2014-12-01

    Polar cap patches, which are islands of enhanced plasma density drifting anti-sunward, are one of the outstanding phenomena in the polar cap F region ionosphere. In the last decade, data from all-sky airglow imagers have been extensively used for better understanding the propagation of patches in the central polar cap region. But still, it has been rather difficult to capture the birth of patches in their generation region near the dayside cusp, because, in most places, the dayside part of the polar cap ionosphere is sunlit even in winter. In Longyearbyen (78.1N, 15.5E), Norway, however, optical observations are possible near the dayside cusp region in a limited period around the winter solstice. This enables us to directly image how polar cap patches are born in the cusp. In this paper, we present a few intervals of daytime optical observations, during which polar cap patches were generated within the field-of-view of an all-sky imager in Longyearbyen. During all the intervals studied here, we identified several signatures of poleward moving auroral forms (PMAF) in the equatorward half of the field-of-view, which are known as ionospheric manifestations of dayside reconnection. Interestingly, patches were directly produced from such poleward moving auroral signatures and propagated poleward along the anti-sunward convection near the cusp. In the literature, Lorentzen et al. (2012) first reported such a direct production of patches from PMAFs. During the current observations, however, we succeeded in tracking the propagation of patches until they reached the poleward edge of the field-of-view of the imager. This confirms that the faint airglow structures produced from PMAFs were actually transported for a long distance towards the central polar cap area; thus, polar cap patches were produced. From this set of observations, we suggest that polar cap patches during moderately disturbed conditions (i.e, non-storm time conditions) can be directly produced by the

  15. On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

    OpenAIRE

    Wong, C.; Antonarakis, S E; Goff, S C; Orkin, S H; Boehm, C. D.; Kazazian, H H

    1986-01-01

    Seven beta-thalassemia genes were characterized after they were identified as candidates for previously undescribed mutations based upon the close association of DNA polymorphism haplotypes in the beta-globin gene cluster with specific ethnic mutations. The molecular defect in four of these genes was identical, a frameshift deletion of four nucleotides (-CTTT) within codons 41 and 42. This gene represents a common Southeast Asian mutation shared by a Laotian beta-thalassemia gene, [framework ...

  16. Screening and genetic counseling for beta-thalassemia trait in a population unselected for interest: comparison of three counseling methods.

    OpenAIRE

    Rowley, P T; Lipkin, M; Fisher, L

    1984-01-01

    We have assessed the effects of screening and genetic counseling for beta-thalassemia trait on knowledge, attitudes, and behavior in a prospective, controlled study of randomly selected adult members of a health maintenance organization. We report here that knowledge of manifestations and of inheritance of thalassemia, previously reported to be high immediately after counseling, were well maintained at 2 and 10 months following counseling. There was no detectable impairment of self-concept. M...

  17. Iron overload causes osteoporosis in thalassemia major patients through interaction with transient receptor potential vanilloid type 1 (TRPV1) channels

    OpenAIRE

    Rossi, Francesca; Perrotta, Silverio; Bellini, Giulia; Luongo, Livio; Tortora, Chiara; Siniscalco, Dario; Francese, Matteo; Torella, Marco; Nobili, Bruno; Di Marzo, Vincenzo; Maione, Sabatino

    2014-01-01

    The pathogenesis of bone resorption in β-thalassemia major is multifactorial and our understanding of the underlying molecular and cellular mechanisms remains incomplete. Considering the emerging importance of the endocannabinoid/endovanilloid system in bone metabolism, it may be instructive to examine a potential role for this system in the development of osteoporosis in patients with β-thalassemia major and its relationship with iron overload and iron chelation therapy. This study demonstra...

  18. HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THALASSEMIA AND SICKLE CELL DISEASE: EXPERIENCE OF MEDITERRANEAN INSTITUTE OF HEMATOLOGY IN A MULTI-ETHNIC POPULATION.

    OpenAIRE

    Marco Marziali; Antonella Isgrò; Javid Gaziev; Guido Lucarelli

    2009-01-01

    Hematopoietic stem cell transplantation (HSCT) still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia.  Results of transplant in thalassemia  and in sickle cell anemia  have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through  2009,  145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous ...

  19. Efficacy of Carvedilol in Patients with Dilated Cardiomyopathy due to Beta-Thalassemia Major; a Double-Blind Randomized Controlled Trial

    OpenAIRE

    Gholam-Hossein Ajami; Hamid Amoozgar; Mohammad Borzouee; Mehran Karimi; Farah Piravian; Afsaneh Ashrafi; Zahra Kheirandish

    2010-01-01

    Objective: Dilated cardiomyopathy is the end result of chronic iron overload in patients with beta thalassemia major. The objective of the present study was to evaluate the safety and efficacy of Carvedilol in patients with beta thalassemia major and dilated cardiomyopathy.Methods: During a six-month period, fourteen patients with beta-thalassemia major and heart failure without diabetes mellitus referred to pediatric cardiology clinic enrolled in this double blind, randomly assigned study. A...

  20. Crystal structure of Bacillus anthracis transpeptidase enzyme CapD.

    Energy Technology Data Exchange (ETDEWEB)

    Wu, R.; Richter, S.; Zhang, R.; Anderson, V. J.; Missiakas, D.; Joachimiak, A.; Biosciences Division; Univ. of Chicago

    2009-09-04

    Bacillus anthracis elaborates a poly-{gamma}-d-glutamic acid capsule that protects bacilli from phagocytic killing during infection. The enzyme CapD generates amide bonds with peptidoglycan cross-bridges to anchor capsular material within the cell wall envelope of B. anthracis. The capsular biosynthetic pathway is essential for virulence during anthrax infections and can be targeted for anti-infective inhibition with small molecules. Here, we present the crystal structures of the {gamma}-glutamyltranspeptidase CapD with and without {alpha}-l-Glu-l-Glu dipeptide, a non-hydrolyzable analog of poly-{gamma}-d-glutamic acid, in the active site. Purified CapD displays transpeptidation activity in vitro, and its structure reveals an active site broadly accessible for poly-{gamma}-glutamate binding and processing. Using structural and biochemical information, we derive a mechanistic model for CapD catalysis whereby Pro{sup 427}, Gly{sup 428}, and Gly{sup 429} activate the catalytic residue of the enzyme, Thr{sup 352}, and stabilize an oxyanion hole via main chain amide hydrogen bonds.

  1. Evaluation of pulmonary function in beta-thalassemia major patients

    International Nuclear Information System (INIS)

    Objective: To describe and quantify the functional change of the lung in patients with beta-thalassemia major (TM) and determine the correlation between pulmonary function test (PFT) results with hemoglobin, ferritin and age changes. Methodology: Pulmonary function tests were performed on 60 transfusion-dependent patients with TM, ranging in age from 10 to 45 years. Percent-predicted values for forced expiratory volume in one second (FEV1), and forced expiratory flows (FEF) 25-75% were significantly reduced, whereas forced expiratory vital capacity (FVC) and FEV1/FVC were closed to normal limits, indicating a restrictive disease. All factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were negatively correlated with age and ferritin levels. In contrast, all factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were positively correlated with hemoglobin (Hb). We performed linear regression analysis to study the simultaneous influence of the presence of age, ferritin, and Hb on obstructive PFT indexes. Results: Pulmonary function test results were normal in only 32 (53.3%) of 60 patients and the rest 28 cases (46.7%) showed abnormal pulmonary function. FEV1 and FEF 25% - 75% have significant negative correlation with age (r = - 0.64 p(r) = 0.003 and r = - 0.58 p(r) = 0.02 respectively), also have significant positive correlation with Hb (r = 0.31 p(r) = 0.015 and r = 0.33 p(r) = 0.01 respectively), and only FEF 25% - 75% has significant negative correlation with ferritin (r -0.26 p(r) = 0.04). Conclusion: The present study has shown that restrictive disease and reduced lung diffusing capacity are the predominant abnormalities of pulmonary function patients with TM. The low hemoglobin concentration and a fall in the diffusing capacity of the alveola - capillary membrane, together with the dependence of the reduced pulmonary diffusing capacity on age and serum ferritin levels, as well as of the entity of restrictive disease on age, suggests that pulmonary

  2. Prevalence of beta-thalassemia and sickle cell anemia trait in premarital screening in Konya urban area, Turkey.

    Science.gov (United States)

    Guler, Ekrem; Caliskan, Umran; UcarAlbayrak, Canan; Karacan, Mehmet

    2007-11-01

    Thalassemias and sickle cell anemia (SCA) are common disease in Turkey. To determine the prevalence of beta-thalassemia and SCA traits in Konya urban area of Turkey, all couples applied for marriage procedures were screened. Screening tests included complete blood count and quantitation of hemoglobin for both partners. The subjects were considered to have the beta-thalassemia trait if they had a mean corpuscular volume of less than 80 fL and/or a mean corpuscular hemoglobin level of less than 27 pg and a hemoglobin A2 level of more than 3.2% or a hemoglobin F level of more than 2%. Subjects were considered to have an SCA trait if they were positive for sickle hemoglobin. During the study, premarital screening of hemoglobinopathies was evaluated retrospectively in 72,918 subjects; the thalassemia trait was detected in 1465 subjects (2%), and the SCA trait was detected in 37 subjects (0.05%). Of the carriers of the beta-thalassemia trait, 820 (56%) people had high hemoglobin A2, 513 (35%) people had high hemoglobin F, and 132 (9%) people had both high hemoglobin F and hemoglobin A2. Our results are very similar to Turkey's beta-thalassemia and SCA trait averages. PMID:17984699

  3. $\\alpha_s$ review (2016)

    CERN Document Server

    d'Enterria, David

    2016-01-01

    The current world-average of the strong coupling at the Z pole mass, $\\alpha_s(m^2_{Z}) = 0.1181 \\pm 0.0013$, is obtained from a comparison of perturbative QCD calculations computed, at least, at next-to-next-to-leading-order accuracy, to a set of 6 groups of experimental observables: (i) lattice QCD "data", (ii) $\\tau$ hadronic decays, (iii) proton structure functions, (iv) event shapes and jet rates in $e^+e^-$ collisions, (v) Z boson hadronic decays, and (vi) top-quark cross sections in p-p collisions. In addition, at least 8 other $\\alpha_s$ extractions, usually with a lower level of theoretical and/or experimental precision today, have been proposed: pion, $\\Upsilon$, W hadronic decays; soft and hard fragmentation functions; jets cross sections in pp, e-p and $\\gamma$-p collisions; and photon F$_2$ structure function in $\\gamma\\,\\gamma$ collisions. These 14 $\\alpha_s$ determinations are reviewed, and the perspectives of reduction of their present uncertainties are discussed.

  4. Evaluation of management alternatives for LWR hulls and caps

    International Nuclear Information System (INIS)

    Hulls and caps resulting from the reprocessing of LWR spent fuels represent one of the major sources of alpha-bearing solid waste generated during the nuclear fuel cycle. The Commission of the European Communities has undertaken considerable R and D efforts on the development of advanced treatment and conditioning methods for this type of waste. In view of the encouraging results achieved, the Commission launched a theoretical assessment study on cladding waste management. Six practical or potential schemes were identified and elaborated: direct cementation, decontamination prior to cementation, rolling before cementation, rolling followed by embedding in graphite, compaction, and melting in a cold crucible. The economic aspects of each management option were also investigated. This included the assessment of the plant (treatment, conditioning and interim storage), transport and disposal costs. Further consideration will be required to define the best management option for 'cap' wastes. Transport and disposal costs will also require further analysis from an industrial standpoint

  5. Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.

    Science.gov (United States)

    Pagano, L; Lacerra, G; Camardella, L; De Angioletti, M; Fioretti, G; Maglione, G; de Bonis, C; Guarino, E; Viola, A; Cutolo, R

    1991-12-01

    A novel beta-chain, beta 126(H4)Val----Gly, electrophoretically silent, was detected by reverse-phase high performance liquid chromatography in three unrelated families from Naples (Southern Italy) and accounted for about 30% of the total beta-chains. The amino acid substitution was detected by HPLC fingerprint. The eight heterozygous patients showed hematologic and biosynthetic alterations of mild beta-thalassemia type. The hemoglobin variant showed abnormal stability features. It was unstable in the heat stability and isopropanol precipitation tests, but did not cause a hemolytic syndrome in vivo and was stable in a time-course experiment of biosynthesis in vitro. DNA polymerase chain reaction direct sequencing of the mutated gene from 135 nt upstream of the cap site to 106 nt downstream of the polyadenylation site showed only the beta 126 GTG----GGG mutation, which was confirmed in the other patients by allele-specific oligonucleotide hybridization. The mutation was found to be associated with a type II beta-globin framework and restriction fragment length polymorphism haplotype V. The novel variant was named hemoglobin Neapolis. PMID:1954392

  6. From Blogs to Bottle Caps

    Science.gov (United States)

    Edinger, Ted

    2012-01-01

    There is a wonderful community of art educators connecting a once-isolated profession through blogging. Art educators around the world are sharing ideas and communicating with their peers through this amazing resource. In this article, the author describes the bottle cap mural at Tulip Grove Elementary School which was inspired by this exchange of…

  7. Platelet Aggregation Study in Patients With Hemoglobin Eβ Thalassemia in India.

    Science.gov (United States)

    Ghosal, Tanushree; Dolai, Tuphan Kanti; Mandal, Prakas Kumar; Karthik, S; Bandyopadhyay, Anjali

    2016-09-01

    Hemoglobin Eβ thalassemia is a major public health problem in India, especially in the state of West Bengal. Various thromboembolic events are common, especially in splenectomized patients. Platelet hyperactivity most likely plays a pathogenetic role. To investigate the role of platelets in hypercoagulability, platelet aggregation tests were undertaken in the present study. Platelet-rich plasma from 30 patients with Eβ thalassemia (15 splenectomized and 15 nonsplenectomized) were studied and compared with 15 healthy participants. The 4 agonists used were adenosine 5-diphosphate, adrenaline (epinephrine), collagen, and ristocetin. The current study shows both splenectomized and nonsplenectomized patients had abnormal aggregation compared to normal healthy controls. Splenectomized patients had higher platelet aggregation than nonsplenectomized patients for all 4 agonists; but statistically significant difference among 2 groups was found only for collagen. The present study confirms a role of splenic absence in platelet hyperaggregation. PMID:25701765

  8. Cord Compression due to Extramedullary Hematopoiesis in an Adolescent with Known Beta Thalassemia Major

    Directory of Open Access Journals (Sweden)

    Alan COHLER

    2009-01-01

    Full Text Available We describe a 16 year-old male with ß thalassemia major and gait disturbances that had not been given blood transfusions due to a severe childhood transfusion reaction. Thoracic spine MRI demonstrated hematopoietic marrow throughout the spine and epidural masses causing cord compression consistent with extramedullary hematopoiesis (EMH. After treatment with steroids, radiotherapy and monitored blood transfusions, the patient demonstrated significant improvement of his paraspinal lesions and near complete resolution of his neurological symptoms. While EMH causing cord compression in adolescents is rare in the current era of bone marrow transplantation or chronic transfusions, it should be considered when thalassemia major patients present with neurological deficits. The well defined imaging features of EMH can play a central role in its diagnosis and management, especially because surgical and / or radiotherapeutic intervention are often considered in cases of failed medical treatment.

  9. Alternative pathway activation in sickle cell disease and beta-thalassemia major.

    Science.gov (United States)

    deCiutiis, A C; Peterson, C M; Polley, M J; Metakis, L J

    1978-07-01

    Total hemolytic complement activity (CH50), immuno-electrophoretic conversion of Factor B (C3PA), and of C3 were studied in 16 patients with sickle cell disease in a steady state, eight patients in crisis, and ten patients with β-thalassemia major anemia maintained on a constant transfusion regimen. Patients with sickle cell disease in a steady state have moderatley 56 (percent) depressed conversion of Factor B in addition to markedly decreased conversion of C3 in four of ten patients. One of the three sickle cell patients and two of the four thalassemia patients with low C3 conversion levels have died subsequent to the studies. The combination of chronically decreased Factor B conversion in the face of markedly decreased C3 conversion may make these patients occasionally vulnerable to overwhelming infection analagous to the situation seen in postsplenectomy cases. PMID:702579

  10. The $\\alpha-\\alpha$ fishbone potential revisited

    CERN Document Server

    Day, J P; Elhanafy, M; Smith, E; Woodhouse, R; Papp, Z

    2011-01-01

    The fishbone potential of composite particles simulates the Pauli effect by nonlocal terms. We determine the $\\alpha-\\alpha$ fishbone potential by simultaneously fitting to two-$\\alpha$ resonance energies, experimental phase shifts and three-$\\alpha$ binding energies. We found that essentially a simple gaussian can provide a good description of two-$\\alpha$ and three-$\\alpha$ experimental data without invoking three-body potentials.

  11. Iron chelation therapy in transfusion-dependent thalassemia patients: current strategies and future directions

    OpenAIRE

    Saliba AN; Harb AR; Taher AT

    2015-01-01

    Antoine N Saliba, Afif R Harb, Ali T Taher Department of Internal Medicine, Division of Hematology/Oncology, American University of Beirut, Beirut, Lebanon Abstract: Transfusional iron overload is a major target in the care of patients with transfusion-dependent thalassemia (TDT) and other refractory anemias. Iron accumulates in the liver, heart, and endocrine organs leading to a wide array of complications. In this review, we summarize the characteristics of the approved iron chelators, def...

  12. Amelogenesis Imperfecta with Taurodontism, Microdontia, and Minor Thalassemia: A Case Report

    OpenAIRE

    Fatemeh Mazhari; Negar Mokhtari Amirmajdi

    2013-01-01

    Amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. Although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be associated with a few syndromes. A 9-year-old girl with minor thalassemia referred to the Department of Pediatric Dentistry of the Mashhad Faculty of Dentistry with a complaint of sensitivity of first permanent molars. Dental findings consisted of...

  13. A Study of Leptin Serum Concentrations in Patients with Major Beta-Thalassemia

    OpenAIRE

    I Shahramian; Akhlaghi, E; A. Ramezani; A. Rezaee; Noori, N; Sharafi, E

    2013-01-01

    Background The aim of this study was to evaluate leptin serum levels in patients with major beta thalassemia which was also associated with their ferritin serum levels. Materials and Methods This case-control study was performed on 90 children -6 months to 16 years old, in Zabol, Amir- al- Momenin Hospital. Patients were divided in two groups and were matched in age and sex. All Children were examined and those eligible children who had not known heart disease, iron deficiency anemia, kidney ...

  14. Is there an association of giardiasis with beta-thalassemia minor?

    OpenAIRE

    Yakoob, Javed; Jafri, Wasim; Shaikh, Hizbullah

    2013-01-01

    Abstract. Beta–thalassemia minor  is a symptomless carrier state of a hemoglobinopathy which predisposes to bacterial infections. We report three cases presenting with giardiasis, a parasitic infection of gastrointestinal tract caused by Giardia lamblia. Patients presented with recurrent diarrhea and abdominal pain for over a year. An esophagogastroduodenoscopy finding varied from normal to acute duodenitis. Duodenal biopsy demonstrated changes consistent with mild chronic non-specific inflam...

  15. Macrophages support pathological erythropoiesis in Polycythemia Vera and Beta-Thalassemia

    OpenAIRE

    Ramos, Pedro; Casu, Carla; Gardenghi, Sara; Breda, Laura; Crielaard, Bart J.; Guy, Ella; Marongiu, Maria Franca; Gupta, Ritama; Levine, Ross L; Abdel-Wahab, Omar; Benjamin L Ebert; van Rooijen, Nico; Ghaffari, Saghi; Grady, Robert W.; Giardina, Patricia J.

    2013-01-01

    Regulation of erythropoiesis is achieved by integration of distinct signals. Among these, macrophages are emerging as erythropoietin-complementary regulators of erythroid development, particularly under stress conditions. We investigated the contribution of macrophages for physiological and pathological conditions of enhanced erythropoiesis. We utilized mouse models of induced anemia, Polycythemia vera and β-thalassemia in which macrophages were chemically depleted. Our data indicate that mac...

  16. Effect of pregnancy on differentiation of minor Beta-Thalassemia from iron deficiency

    OpenAIRE

    Ghanei M

    1997-01-01

    Differential diagnosis of Iron-deficiency anemia and Beta-Thalassemia, two common causes of anemia, affects the treatment in pregnant women. To help the diagnosis, we have tried to asses the pure effect of gestation on diagnostic criteria, eliminating iron and folate deficiency. In a prospective study, 46 thalassemic women were given Ferrous Sulphate tablets and Folate. Some indices, CBC and HbA2 were measured before and after treatment during pregnancy. The haemoglobin and HbA2 decreased and...

  17. Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.

    OpenAIRE

    Cai, S P; Kan, Y W

    1990-01-01

    We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.

  18. Life Satisfaction in children and adolescents with beta thalassemia major in southwest Iran

    OpenAIRE

    Hatami, Gissou; Motamed, Niloofar

    2014-01-01

    Background: Beta thalassemia major has a considerable impact on quality of life. The purpose of this study was to determine the life satisfaction of beta-thalassemic children and adolescents compared to healthy controls. Methods: This research, conducted in 2009, was a controlled, cross-sectional study in which beta-thalassemic patients, who were being followed-up by the Thalassemic Center in Bushehr, a city in southern Iran, were compared with a healthy control group. The Multi-dimensional S...

  19. Multiple transfused thalassemia major: Ocular manifestations in a hospital-based population

    Directory of Open Access Journals (Sweden)

    Taneja Rashi

    2010-01-01

    Full Text Available Purpose: To study the ocular manifestations in multiple transfused beta-thalassemia major patients and assess the ocular side-effects of iron chelating agents. Materials and Methods: In this prospective observational study, 45 multiple transfused beta-thalassemia major children between six months and 21 years of age were enrolled and assigned groups according to the treatment regimens suggested. Group A received only blood transfusions, Group B blood transfusions with subcutaneous desferrioxamine, Group C blood transfusions with desferrioxamine and oral deferriprone and Group D blood transfusions with deferriprone. Ocular status at the time of enrolment was documented. Subjects were observed quarterly for one year for changes in ocular status arising due to the disease process and due to iron chelation therapy. Children with hemoglobinopathies other than beta-thalassemia major, congenital ocular anomalies and anemia due to other causes were excluded. Results: Ocular involvement was observed in 58% of patients. Lenticular opacities were the most common ocular finding (44%, followed by decreased visual acuity (33%. An increased occurrence of ocular changes was observed with increase of serum ferritin and serum iron levels as well as with higher number of blood transfusions received. Desferrioxamine seemed to have a protective influence on retinal pigment epithelium (RPE mottling. Occurrence of lenticular opacities and RPE degeneration correlated positively with use of desferrioxamine and deferriprone respectively. Follow-up of patients for one year did not reveal any change in ocular status. Conclusion: Regular ocular examinations can aid in preventing, delaying or ameliorating the ocular complications of thalassemia.

  20. What regulates hepcidin in poly-transfused β-Thalassemia Major: Erythroid drive or store drive?

    OpenAIRE

    Richa Chauhan; Sunita Sharma; Jagdish Chandra

    2014-01-01

    Background: Hepcidin, a key regulator of iron homeostasis, is increased by iron overload and inflammation while suppressed by hypoxia. In spite of iron overload in β-Thalassemia Major (β-TM), a paradoxical decrease in hepcidin is observed. Aim: To assess the opposing effects of enhanced erythropoiesis due to anemia and iron overloading on hepcidin in β-TM patients. Setting and Design: This prospective observational study was done at our tertiary care hospital. Materials and Methods: Eighty-th...

  1. Stem cell transplantation with S-59 photochemically treated T-cell add-backs to establish allochimerism in murine thalassemia.

    Science.gov (United States)

    Kuypers, Frans A; Watson, Gordon; Sage, Ezra; Walters, Mark C; Hamrick, James; Hearst, John E

    2005-01-01

    Hematopoietic cell transplantation (HCT) from HLA-identical sibling donors has curative potential for beta-thalassemia. The probability of surviving free of thalassemia under these conditions is approximately 85%. The application of this therapy is limited because many patients lack an HLA-identical sibling donor. HLA-mismatched stem cell transplantation for thalassemia is severely restricted by graft rejection and the risks for graft-versus-host disease (GVHD). Thus, the development of a novel method that facilitates immunological tolerance and improves the safety of HLA-mismatched HCT would greatly expand the opportunity of HCT for thalassemia patients. We hypothesized that removal of T cells from the donor hematopoietic stem cell preparation and subsequent add-back after photochemical treatment with S-59, a psoralen, would promote and stabilize the engraftment and significantly reduce the risk of GVHD. This was tested in a MHC-mismatched HCT model of murine thalassemia. S-59-treated T cells were infused simultaneously with bone marrow-derived stem cells into mice with a heterozygous deletion of one beta-globin alleles that had been conditioned with a sublethal dose of total body irradiation. Mice that received treated T cells showed increased engraftment compared to those that did not receive T cells. T-cell treatment improved survival without GVHD compared to recipients that received untreated T cells. We conclude that photochemical treatment of T cells facilitates engraftment and minimizes GVHD in allo-HCT for murine thalassemia, and sets the stage for further development of such protocols for the treatment of patients with thalassemia. PMID:16339668

  2. Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq.

    Science.gov (United States)

    Eissa, Adil A; Kashmoola, Muna A; Atroshi, Sulav D; Al-Allawi, Nasir A S

    2015-06-01

    Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridization to detect 20 β-thalassemia mutations. A total of eleven different β-thalassemia mutations were documented. The most frequent mutation was IVS-I-110 (G>A) documented in 34 %, followed by IVS-I-6 (T>C) in 9.6 %, IVS-I-5(G>C) in 8.5 %, codon 39 (C>T) and codon 44 (-C) in 7.4 % each, while IVS-I-1(G>A) and IVS-II-1(G>A) were encountered in 6.4 % each. Other mutations were less frequent including codon 8 (-AA), IVS-I-130 (G>C), codon 5 (-CT) and IVS-II-745(C>G). The current study revealed notable differences in the relative frequencies of several β-thalassemia mutations in Nineveh province as compared to other parts of Northern Iraq. Such an observation may be reflective of different ethnic backgrounds and varying historical population interactions. It is believed that these findings complement those of earlier studies on β-thalassemia mutations from the country, and are quite essential in the setting of a proposed national preventive program. PMID:25825560

  3. Alpha One Foundation

    Science.gov (United States)

    ... Tested Find Support Find Doctor What Is Alpha-1? Alpha-1 Antitrypsin Deficiency (Alpha-1) is a ... results for inhaled augmentation More News Our Number One Goal: Find a cure for Alpha-1. Website ...

  4. Alpha-1 Antitrypsin Test

    Science.gov (United States)

    ... helpful? Also known as: Alpha 1 -antitrypsin; A1AT; AAT Formal name: Alpha 1 Antitrypsin; α1-antitrypsin Related ... know? How is it used? Alpha-1 antitrypsin (AAT) testing is used to help diagnose alpha-1 ...

  5. A successful twin pregnancy in a patient with HbE-β-thalassemia in western India.

    Science.gov (United States)

    Merchant, R; Italia, K; Ahmed, J; Ghosh, K; Colah, R B

    2015-01-01

    Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE)-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV)-positive, conceived for the first time without any infertility treatment. However, there was incomplete abortion with heavy bleeding at 3 months of gestation, which required bilateral uterine artery angiography. The angiogram showed the left uterine artery to be moderately hypertrophied. This was embolized with 300-500 micron polyvinyl alcohol (PVA) to stop the bleeding. Soon after, she conceived again with a twin pregnancy, and at 33.3 weeks of gestation, there was a normal delivery of twin girls without any postpartum hemorrhage or perineal tear. Both babies were given prematurity care. The mother and children were both normal up till the last follow-up 18 months after delivery, and both the girls are HbE heterozygous. Thorough monitoring of endocrine functions along with proper management of transfusions and iron overload can help in reducing the complications related to pregnancy in these patients. PMID:26119442

  6. A successful twin pregnancy in a patient with HbE-β-thalassemia in western India

    Directory of Open Access Journals (Sweden)

    R Merchant

    2015-01-01

    Full Text Available Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV-positive, conceived for the first time without any infertility treatment. However, there was incomplete abortion with heavy bleeding at 3 months of gestation, which required bilateral uterine artery angiography. The angiogram showed the left uterine artery to be moderately hypertrophied. This was embolized with 300-500 micron polyvinyl alcohol (PVA to stop the bleeding. Soon after, she conceived again with a twin pregnancy, and at 33.3 weeks of gestation, there was a normal delivery of twin girls without any postpartum hemorrhage or perineal tear. Both babies were given prematurity care. The mother and children were both normal up till the last follow-up 18 months after delivery, and both the girls are HbE heterozygous. Thorough monitoring of endocrine functions along with proper management of transfusions and iron overload can help in reducing the complications related to pregnancy in these patients.

  7. Hemoglobinopathies and thalassemia screening among Senoi Orang Asli in Peninsular Malaysia

    Science.gov (United States)

    Rong, Danny Koh Xuan; Ismail, Endom; Sabudin, Raja Zahratul Azma Raja; Hussin, Noor Hamidah; Othman, Ainoon

    2015-09-01

    Orang Asli are the minority indigenous people in Peninsular Malaysia and can be divided into 3 main groups (Negrito, Senoi and Proto Malay) with different six sub-ethnics under each group. Within the Senoi group, the six sub-ethnics are sub-ethnic Mah Meri, Semoq Beri, Che Wong, Jah Hut, Semai and Temiar. This study was aimed to investigate the current prevalence of α- and β-thalassemia and hemoglobinopathies and their mutation types among all six sub-ethnics of Senoi Orang Asli. Blood samples from 685 Senoi participants were collected and sent immediately for routine full blood count analysis and hemoglobin sub-typing. Of 378 subjects screened, 7 subjects were found to be Hemoglobin E (HbE) beta thalassemia carriers, 13 beta thalassaemic, 35 Hemoglobin Constant Spring (HbCS) carriers, 6 compound HbE and HbCS carriers, 32 with HbE disease and 163 HbE heterozygote carriers. The findings of high HbE among Temiars and Jah Huts and high HbCS exclusively in Jah Huts in this study suggest distinct differences across sub-ethnics under Senoi group. Understanding of prevalence and wide spectrum of thalassemia and hemoglobinopathies among Senoi and Orang Asli is essential for national thalassaemia awareness and prevention program, especially in Orang Asli communities.

  8. Frequency of hepatitis B and hepatitis C in multi - transfused beta thalassemia major patients

    International Nuclear Information System (INIS)

    To determine the frequency of hepatitis B and C virus infection among children with beta thalassemia major registered at Military Hospital Rawalpindi. Children attending Thalassemia Centre Military Hospital Rawalpindi for regular blood transfusion were registered. They belonged to different ethnic groups and came from different parts of the country. Their demographic data was recorded, detailed history taken and physical examination was carried out. Their serum samples were tested for hepatitis B surface antigen and anti HCV antibody assay with third generation commercial ELISA method. During the study; 141 patients of beta thalassemia major were screened. Out of them 50 patients (35.5% ,95% confidence interval 27.8-43.5)w ere found hepatitis C virus antibody positive and 1 patient (0.7 %) hepatitis B surface antigen positive. One patient (0.7%) had both hepatitis B and C virus infection. Mean age of hepatitis C infected patients was 10.4+3.85y ears (range 2-16 years). Mean age of uninfected patients was 6.1 + 3.59 years. (p value 0.000) In addition, the results indicate that higher prevalence of anti-HCV was significantly associated with longer duration of transfusion (p value <0.003). In spite of the fact that screened blood is used for transfusions, still a large number of patients have been found infected with hepatitis C. Therefore more accurate techniques are required for screening of blood to prevent transfusion associated transmission. (author)

  9. Genetic diversity of HCV among various high risk populations (IDAs, thalassemia, hemophilia, HD patients) in Iran

    Institute of Scientific and Technical Information of China (English)

    Rafiei A; Darzyani Azizi M; Taheri S; Haghshenas MR; Hosseinian A; Makhlough A

    2013-01-01

    Objective: To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran. Methods: A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia, hemophilia, patients under hemodialysis and intravenous drug addicts. HCV genotypes were determined based on amplification with type-specific primers methods. Results: Among the 187 anti-HCV positive samples, only 135 (72.2%) gave HCV-RNA positvity. Over all, the most identified HCV type was genotype 3a (51.1%) followed by 1a (27.4%), 1b (8.2%). Sixteen (11.9%) out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow; 1a/1b in 11 (8.2%), 2/3a in 3 (2.2%), and 1a/1b/3a in 2 (1.5%). Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia, hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts. Conclusions: This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran, where genotype 3a was found to be the most frequent genotype in thalassemia, hemophilia, and hemodialysis patients but not in IDAs. Since the addiction age is decreasing in Iran and a lot of addicts are IDAs, it might change the subtype pattern of HCV in general population.

  10. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar

    2015-01-01

    Full Text Available Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.

  11. Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.

    Science.gov (United States)

    Nikuei, Pooneh; Hadavi, Valeh; Rajaei, Minoo; Saberi, Mozhgan; Hajizade, Fozieh; Najmabadi, Hossein

    2008-01-01

    beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their beta-thalassemia (beta-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregnancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (7). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a beta-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated. PMID:19065331

  12. Clinical Manifestations of β-Thalassemia Major in Two Different Altitudes; Bushehr and Shahrekord

    Science.gov (United States)

    Ravanbod, Mohammad Reza; Movahed, Ali; Ostovar, Afshin; Hajigholami, Ali; Khamisipour, Gholamreza; Farrokhi, Shokrollah; Darabi, Hossein; Khosravi, Yasaman; Gheybi, Mohammad Kazzem

    2016-01-01

    Background: Patients with β-thalassemia major (TM) develop iron overload through increased iron absorption and transfusional therapy and it’s the most important complication of TM. Thalassemia is common in coastal regions and lands with low altitudes. The aim of this study is to determine the effect of high and low altitude on serum ferritin and treatment requirement in two groups of β-thalassemia major (TM) patients. Subjects and Methods: Patients were divided into two groups, the first group (No: 50) living at sea level (in the port of Bushehr, Iran) and the second group (No: 40) living at the altitude of 2061 m (in the city of Shahrekord, Iran). All patient’s clinical history, blood transfusion and laboratory tests including complete blood count and hemoglobin electrophoresis were reviewed. Results: There were no significant difference in ferritin levels, transfusion period and diabetes incidence of the two cities patients (P>0.05). Patient’s cardiac function and liver condition were significantly better in patients of Bushehr (P<0.05). Patients under 20 years in Bushehr were less splenectomized in comparison with Shahrekord (P<0.05). Conclusion: Our result showed that some of clinical manifestations of patients in low altitude such as cardiac and liver condition were better. But it did not affect ferritin level probably due to transfusion and chelating therapy. Totally patients of Bushehr had better conditions and had longer survivals.

  13. Alpha spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Krueger, Felix; Wilsenach, Heinrich; Zuber, Kai [IKTP TU-Dresden, Dresden (Germany)

    2014-07-01

    Alpha decays from long living isotopes are one of the limiting backgrounds for experiments searching for rare decays with stringent background constrains, such as neutrinoless double beta decay experiments. It is thus very important to accurately measure the half-lives of these decays, in order to properly model their background contribution. Therefore, it is important to be able to measure half-lives from alpha decays of the order of 1 x 10{sup 15} yr. A measurement of such a long lived decay imposes, however, a series of challenges, where the correct discrimination between background and true signal is critical. There is also a more general interest in such long living half-life measurements, as their value depends crucially on the underlying nuclear model. This work proposes a setup to measure long lived alpha decays, based on the design of the Frisch-Grid ionisation chamber. It is shown that the proposed design provides a good separation of signal and background events. It is also demonstrated that, with pulse shape analysis, it is possible to constrain the source position of the decay, further improving the quality of the data. A discussion of the characterisation of the detector is also presented as well as some results obtained with calibration sources.

  14. Alpha spectroscopy

    International Nuclear Information System (INIS)

    Alpha decays from long living isotopes are one of the limiting backgrounds for experiments searching for rare decays with stringent background constrains, such as neutrinoless double beta decay experiments. It is thus very important to accurately measure the half-lives of these decays, in order to properly model their background contribution. Therefore, it is important to be able to measure half-lives from alpha decays of the order of 1 x 1015 yr. A measurement of such a long lived decay imposes, however, a series of challenges, where the correct discrimination between background and true signal is critical. There is also a more general interest in such long living half-life measurements, as their value depends crucially on the underlying nuclear model. This work proposes a setup to measure long lived alpha decays, based on the design of the Frisch-Grid ionisation chamber. It is shown that the proposed design provides a good separation of signal and background events. It is also demonstrated that, with pulse shape analysis, it is possible to constrain the source position of the decay, further improving the quality of the data. A discussion of the characterisation of the detector is also presented as well as some results obtained with calibration sources.

  15. Tip cap for a rotor blade

    Science.gov (United States)

    Kofel, W. K.; Tuley, E. N.; Gay, C. H., Jr.; Troeger, R. E.; Sterman, A. P. (Inventor)

    1983-01-01

    A replaceable tip cap for attachment to the end of a rotor blade is described. The tip cap includes a plurality of walls defining a compartment which, if desired, can be divided into a plurality of subcompartments. The tip cap can include inlet and outlet holes in walls thereof to permit fluid communication of a cooling fluid there through. Abrasive material can be attached with the radially outer wall of the tip cap.

  16. Dynamic Modeling of an Evapotranspiration Cap

    Energy Technology Data Exchange (ETDEWEB)

    Jacob J. Jacobson; Steven Piet; Rafael Soto; Gerald Sehlke; Harold Heydt; John Visser

    2005-10-01

    The U.S. Department of Energy is scheduled to design and install hundreds of landfill caps/barriers over the next several decades and these caps will have a design life expectancy of up to 1,000 years. Other landfill caps with 30 year design lifetimes are reaching the end of their original design life; the changes to these caps need to be understood to provide a basis for lifetime extension. Defining the attributes that make a successful cap (one that isolates the waste from the environment) is crucial to these efforts. Because cap systems such as landfill caps are dynamic in nature, it is impossible to understand, monitor, and update lifetime predictions without understanding the dynamics of cap degradation, which is most often due to multiple interdependent factors rather than isolated independent events. In an attempt to understand the dynamics of cap degradation, a computer model using system dynamics is being developed to capture the complex behavior of an evapotranspiration cap. The specific objectives of this project are to capture the dynamic, nonlinear feedback loop structures underlying an evapotranspiration cap and, through computer simulation, gain a better understanding of long-term behavior, influencing factors, and, ultimately, long-term cap performance.

  17. Analyses of hydraulic performance of velocity caps

    DEFF Research Database (Denmark)

    Christensen, Erik Damgaard; Degn Eskesen, Mark Chr.; Buhrkall, Jeppe;

    2014-01-01

    The hydraulic performance of a velocity cap has been investigated. Velocity caps are often used in connection with offshore intakes. CFD (computational fluid dynamics) examined the flow through the cap openings and further down into the intake pipes. This was combined with dimension analyses...

  18. 21 CFR 888.3000 - Bone cap.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Bone cap. 888.3000 Section 888.3000 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES ORTHOPEDIC DEVICES Prosthetic Devices § 888.3000 Bone cap. (a) Identification. A bone cap is a...

  19. ATLAS End Cap toroid in upstanding position

    CERN Multimedia

    2005-01-01

    End Cap toroid The ATLAS End Cap toroid weights 240-ton and is 12-m diameter high. The parts of this vacuum vessel had to be integrated and tested so that End Cap Toroid has no leaks. After that it could be cooled down to 80 K.

  20. Dynamic Modeling of an Evapotranspiration Cap

    International Nuclear Information System (INIS)

    The U.S. Department of Energy is scheduled to design and install hundreds of landfill caps/barriers over the next several decades and these caps will have a design life expectancy of up to 1,000 years. Other landfill caps with 30 year design lifetimes are reaching the end of their original design life; the changes to these caps need to be understood to provide a basis for lifetime extension. Defining the attributes that make a successful cap (one that isolates the waste from the environment) is crucial to these efforts. Because cap systems such as landfill caps are dynamic in nature, it is impossible to understand, monitor, and update lifetime predictions without understanding the dynamics of cap degradation, which is most often due to multiple interdependent factors rather than isolated independent events. In an attempt to understand the dynamics of cap degradation, a computer model using system dynamics is being developed to capture the complex behavior of an evapotranspiration cap. The specific objectives of this project are to capture the dynamic, nonlinear feedback loop structures underlying an evapotranspiration cap and, through computer simulation, gain a better understanding of long-term behavior, influencing factors, and, ultimately, long-term cap performance

  1. Glucose homeostasis in Egyptian children and adolescents with β-Thalassemia major: Relationship to oxidative stress

    Directory of Open Access Journals (Sweden)

    Kotb Abbass Metwalley

    2014-01-01

    Full Text Available Background: Oxidative stress in children with β-thalassemia may contribute to shortened life span of erythrocytes and endocrinal abnormalities. Aim: This study was aimed to evaluate glucose homeostasis in Egyptian children and adolescents with β-thalassemia major and its relation to oxidative stress. Materials and Methods: Sixty children and adolescents with β-thalassemia major were studied in comparison to 30 healthy age and sex-matched subjects. Detailed medical history, thorough clinical examination, and laboratory assessment of oral glucose tolerance test (OGTT, serum ferritin, alanine transferase (ALT, fasting insulin levels, plasma malondialdehyde (MDA as oxidant marker and serum total antioxidants capacity (TAC were performed. Patients were divided into two groups according to the presence of abnormal OGTT. Results: The prevalence of diabetes was 5% (3 of 60 and impaired glucose tolerance test (IGT was 8% (5 of 60. Fasting blood glucose, 2-hour post-load plasma glucose, serum ferritin, ALT, fasting insulin level, homeostatic model assessment for insulin resistance index (HOMA-IR and MDA levels were significantly elevated while TAC level was significantly decreased in thalassemic patients compared with healthy controls (P < 0.001 for each. The difference was more evident in patients with abnormal OGTT than those with normal oral glucose tolerance (P < 0.001 for each. We also observed that thalassemic patients not receiving or on irregular chelation therapy had significantly higher fasting, 2-h post-load plasma glucose, serum ferritin, ALT, fasting insulin, HOMA-IR, oxidative stress markers OSI and MDA levels and significantly lower TAC compared with either those on regular chelation or controls. HOMA-IR was positively correlated with age, serum ferritin, ALT, MDA, and negatively correlated with TAC. Conclusions: The development of abnormal glucose tolerance in Egyptian children and adolescents with β--thalassemia is associated with

  2. STUDY OF SERUM HAPTOGLOBIN LEVEL AND ITS RELATION TO ERYTHROPOIETIC ACTIVITY IN BETA THALASSEMIA CHILDREN .

    Directory of Open Access Journals (Sweden)

    Seham Ragab

    2015-02-01

    Full Text Available Background  :Serum haptoglobin (Hp is a reliable marker for hemolysis regardless the inflammatory state.  Objective: We investigated the possible relation between Hp depletion and hemolysis severity, hepatitis C virus (HCV infection and iron load in β-thalassemia children. Methods: Twenty  two β-thalassemia major (TM ,20 β-thalassemia  intermedia (TI children with 20 age and sex matched healthy controls were involved. Pre-transfusion hemoglobin level was considered . Serum ferritin , Hp  and transferrin receptor  levels (sTfR  (by ELISA , alanine aminotransferase (ALT and  aspartate aminotransferase (AST  (by colorimetric method were assayed. Markers of hepatitis C virus  (HCV  were done by PCR. Results:  The mean Hp levels among the studied groups were as follows; 8.02 ± 0.93 (mg/dl , 8.6 ±0.72 (mg/dl  and 122  ± 18.5(mg/dl   for TM ,TI and the controls respectively . Both patient groups had significantly lower Hp level compared to the controls (P<0.0001  with significant lower level in TM compared to TI  children ( P= 0.034  .Significant inverse correlations were  found between serum Hp and sTfR levels in thalassemia children combined and in each group (TM and TI as well as among HCV infected children. STfR   was the only significant independent predictor for  serum Hp level (t= -5.585 , P<0.0001 . Among  HCV infected patients , no significant correlation was found between serum Hp and serum transaminases  .Conclusion:  Serum Hp depletion in thalassemia had significant relation to disease severity and correlated   well with their erythropoietic activity, as assessed by the measurement of  sTfR without significant relation  HCV infection . Large sample  multicenter studies are  recommended.

  3. Traceability and the new CAP

    OpenAIRE

    Maraveyas, Napoleon N.; Doukas, Yannis El.

    2009-01-01

    The Common Agricultural Policy (CAP) was strongly criticized for the food safety crises of the 1990s which included Bovine Spongiform Encephalopathy (BSE), dioxin, foot and mouth disease and swine fever to name a few. Even though the first rules on food safety date from the very early days of the EU, a need was recognized to replace a number of these rules accumulated through the years, whose implementation was difficult to monitor, with a simpler and more comprehensive approach. The result w...

  4. Prevalence and Intensity of Depression in Mothers of Children with Beta-Thalassemia Major In Talghani Hospital of Gorgan, Iran

    Directory of Open Access Journals (Sweden)

    Nargesbeygom Mirbehbahani

    2014-01-01

    Full Text Available Background: Thalassemia is a chronic disease that it leads to psychological and social problems for parents. Mothers are at markedly increased risk of suffering from psychological distress and depression because they usually take on a considerable part of extra care that their children need.This study was designed to determine prevalence and intensity of depression in mothers with a thalassemic child. Material and Methods: In this cross – sectional study, 65 mothers of children with thalassemia major (case group and 65 mothers of children without thalassemia major (control group were assessed using the Beck Depression Inventory (BDI. Data were analyzed by using SPSS (v 16.0 for windows. Results: Prevalence of depression was significantly higher in case group than that in control group (84.6%vs. 56.9%, p <0.05. Moderate depression had a highest prevalence in the both groups (33.4% in case group and 30.8% in control group. Prevalence of severe depression in case group was markedly higher than that in control group (29.2% vs. 3.1% p<0.05. There was a significant difference between intensity of depression in mothers of case group that had another child with beta-thalassemia major (p<0.05. Conclusion: Mothers of children with thalassemia major are vulnerable to depression. They need psychosocial support to promote their health.

  5. Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

    Directory of Open Access Journals (Sweden)

    Marcilene Rezende Silva

    2013-01-01

    Full Text Available OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. RESULTS: The following alpha chain variants were found: seven children with hemoglobin Hasharon [alpha2 47(CE5 Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13 Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2 Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5 Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. CONCLUSION: Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.

  6. Monocytes and neutrophils expressing myeloperoxidase occur in fibrous caps and thrombi in unstable coronary plaques

    Directory of Open Access Journals (Sweden)

    Li Ling

    2009-06-01

    Full Text Available Abstract Background Myeloperoxidase (MPO -containing macrophages and neutrophils have been described at sites of plaque rupture. The presence of these cells in precursor lesions to acute rupture (thin cap atheroma, or vulnerable plaque and within thrombi adjacent to ruptures has not been described, nor an association with iron-containing macrophages within unstable plaques. Methods We studied 61 acute ruptures, 15 organizing ruptures, 31 thin cap fibroatheromas, and 28 fibroatheromas from 72 sudden coronary death victims by immunohistochemical and histochemical techniques. Inflammatory cells were typed with anti-CD68 (macrophages, anti-BP-30 (neutrophil bactericidal glycoprotein, and anti-MPO. Iron was localized by Mallory's Prussian blue stain. In selected plaques alpha smooth muscle actin (DAKO, Carpinteria, CA, clone M0851 was performed. Results MPO positive cells were present in 79% of ruptured caps, 28% of thin cap fibroatheroma, and no fibroatheromas; neutrophils were present in 72% of ruptures, 8% of thin cap fibroatheromas, and no fibroatheromas. Iron containing foam cells were present in the caps of 93% of acute ruptures, of 85% of organizing ruptures, 20% of thin cap atheromas, and 10% of fibroatheromas. MPO positive cells were more frequent in occlusive than non-occlusive thrombi adjacent to ruptures (p = .006 and were more numerous in diabetics compared to non-diabetics (p = .002 Conclusion Unstable fibrous caps are more likely to contain MPO-positive cells, neutrophils, and iron-containing macrophages than fibrous caps of stable fibroatheromas. MPO-positive cells in thrombi adjacent to disrupted plaques are associated with occlusive thrombi and are more numerous in diabetic patients.

  7. Application of alpha spectrometry to the discovery of new elements by heavy-ion-beam bombardment

    Energy Technology Data Exchange (ETDEWEB)

    Nitschke, J.M.

    1983-05-01

    Starting with polonium in 1898, ..cap alpha..-spectrometry has played a decisive role in the discovery of new, heavy elements. For even-even nuclei, ..cap alpha..-spectra have proved simple to interpret and exhibit systematic trends that allow extrapolation to unknown isotopes. The early discovery of the natural ..cap alpha..-decay series led to the very powerful method of genetically linking the decay of new elements to the well-established ..cap alpha..-emission of daughter and granddaughter nuclei. This technique has been used for all recent discoveries of new elements including Z = 109. Up to mendelevium (Z = 101), thin samples suitable for ..cap alpha..-spectrometry were prepared by chemical methods. With the advent of heavy-ion accelerators new sample preparation methods emerged. These were based on the large momentum transfer associated with heavy-ion reactions, which produced energetic target recoils that, when ejected from the target, could be thermalized in He gas. Subsequent electrical deposition or a He-jet technique yielded samples that were not only thin enough for ..cap alpha..-spectroscopy, but also for ..cap alpha..- and ..beta..-recoil experiments. Many variations of these methods have been developed and are discussed. For the synthesis of element 106 an aerosol-based recoil transport technique was devised. In the most recent experiments, ..cap alpha..-spectrometry has been coupled with the magnetic analysis of the recoils. The time from production to analysis of an isotope has thereby been reduced to 10/sup -6/ s; while it was 10/sup -1/ to 10/sup 0/ s for He-jets and 10/sup 1/ to 10/sup 3/ s for rapid chemical separations. Experiments are now in progress to synthesize super heavy elements (SHE) and to analyze them with these latest techniques. Again, ..cap alpha..-spectrometry will play a major role since the expected signature for the decay of a SHE is a sequence of ..cap alpha..-decays followed by spontaneous fission.

  8. Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis

    International Nuclear Information System (INIS)

    To determine the regional and ethnic distribution of beta thalassemia mutation and the effect of consanguinity in patients referred for prenatal diagnosis of beta b-thalassemia and to target the high risk population for screening. A total of 499 couples were referred to Gentec Lab., Lahore, from all over Pakistan for prenatal diagnosis of b-thalassemia. After counseling, chorionic villus sampling was done between 10-16 weeks of gestation. DNA analysis was done by Amplification Refractory Mutation System (ARMS) for type of mutation in the Armed Forces Institute of Pathology, Rawalpindi. Ethnicity, race and consanguineous relationship of parents was determined.b-thalassemia was prevalent in Punjabis (60.7%) followed by Saraikees (25.5%). Castewise it was most frequent in Rajputs followed by Jatts, Arain, Sheikhs and Pathans. 56.7% of the couples were first cousins and 19.8% were relatives. The commonest mutations were Frameshift 8-9 (Fr8-9) 33.5%, Intervening Sequence 1-5 (IVS 1-5) 17.2%, Fr4142 - 8%, IVS 1-1 - 5.2%, Deletion 619 (Del 619) 4.2% and Codon 5 (Cd 5) - 4.2%. In samples sent for analysis, 53.1% turned out to be carriers (trait), 25.3% were diseased (thalassemia major) and 21.6% were normal. P-value of all results was less than 0.001. In this series, the highest frequency was found in Punjabi Rajputs. The commonest mutation was Fr 8-9. Most parents were first cousins. Premarital thalassemia carrier testing can effectively reduce the disease. (author)

  9. Heart Rate Variability as an Alternative Indicator for Identifying Cardiac Iron Status in Non-Transfusion Dependent Thalassemia Patients.

    Directory of Open Access Journals (Sweden)

    Karn Wijarnpreecha

    Full Text Available Iron-overload cardiomyopathy is a major cause of death in thalassemia patients due to the lack of an early detection strategy. Although cardiac magnetic resonance (CMR T2* is used for early detection of cardiac iron accumulation, its availability is limited. Heart rate variability (HRV has been used to evaluate cardiac autonomic function and found to be depressed in thalassemia. However, its direct correlation with cardiac iron accumulation has never been investigated. We investigated whether HRV can be used as an alternative indicator for early identification of cardiac iron deposition in thalassemia patients.Ninety-nine non-transfusion dependent thalassemia patients (23.00 (17.00, 32.75 years, 35 male were enrolled. The correlation between HRV recorded using 24-hour Holter monitoring and non-transferrin bound iron (NTBI, hemoglobin (Hb, serum ferritin, LV ejection fraction (LVEF, and CMR-T2* were determined.The median NTBI value was 3.15 (1.11, 6.59 μM. Both time and frequency domains of HRV showed a significant correlation with the NTBI level, supporting HRV as a marker of iron overload. Moreover, the LF/HF ratio showed a significant correlation with CMR-T2* with the receiver operating characteristic (ROC curve of 0.684±0.063, suggesting that it could represent the cardiac iron deposit in thalassemia patients. HRV was also significantly correlated with serum ferritin and Hb.This novel finding regarding the correlation between HRV and CMR-T2* indicates that HRV could be a potential marker in identifying early cardiac iron deposition prior to the development of LV dysfunction, and may be used as an alternative to CMR-T2* for screening cardiac iron status in thalassemia patients.

  10. Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India

    Directory of Open Access Journals (Sweden)

    RS Balgir

    2010-04-01

    Full Text Available Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India. Community genetic screening provides multifaceted information for finding prevalence, level of health education, preventive strategies such as genetic/marriage counseling to relieve the burden of vulnerable communities. However, such genetic screening studies are scanty in India. This study aims to find the prevalence of inherited hemolytic disorders in Sindhi community, identify the persons for genetic/marriage counseling and to suggest the relevant strategies for prevention and control to the affected families. A cross-sectional random study of 508 persons of Sindhi community belonging to all ages and both sexes was conducted for screening of hemoglobin disorders, G6PD deficiency and ABO and Rhesus (D blood groups following the standard procedures and techniques from Jabalpur town in Central India. High frequency of β-thalassemia trait (20.5%, Hb D trait (2.2% and hemoglobin D/β-thalassemia (0.2%, G6PD deficiency (0.8%, and a low prevalence of Rhesus negative (3.0% blood group was observed in Sindhi community of Jabalpur town in Madhya Pradesh. A case of β-thalassemia major and Hb D-thalassemia were also encountered. Double heterozygosity of Hb D/β-thalassemia showed hypochromic and microcytic red cell morphology with mild anemia. Inherited hemolytic disorders are an important public health challenge in Sindhi community. Preventive genetics program needs to be vigorously taken up to ameliorate the sufferings of at risk communities in India.

  11. Effectiveness of Eye Movement Desensitization and Reprocessing on Anxiety in Children with Thalassemia in a 12-month follow up

    Directory of Open Access Journals (Sweden)

    A Shahnavazi

    2016-02-01

    Full Text Available Background and  Objective: Thalassemia is the most common genetic diseases in the world and especially in our country. For many reasons, including chronic disease, health care costs, the expected mortality Ray disease states such as anxiety, psychological and social problems in thalassemia. The aim of the present study was to assess the efficacy of Eye Movement Desensitization and Reprocessing (EMDR on anxiety of children with thalassemia in a 12-month follow up..  Methods: It was a clinical trial study, which was performed on 60 patients with Thalassemia in 2013-2014. A total of 60 thalassemic patients based on Beck anxiety inventory, selected using sampling and were randomly divided into experimental and Control groups. in experimental group, eye movement desensitization and reprocessing therapy was perfomed in five sessions and The control group received no intervention. In order to collect information on demographic questionnaire and Beck Anxiety Inventory were used. data were gathered on anxiety symptoms at pretreatment, posttreatment and 12 month follow up and were analyzed using descriptive statistics, repeated measures and chi square. Results: The average age of the participants was 15.22±1.93  years old. This study shows that the mean or average level of anxiety children with thalassemia in the experimental group before and after intervention and in a 12-month follow up group 34.73 ± 5.62, 19.90 ± 2.48 and 19.23 ± 2.48 respectively; repeated measures ANOVA showed significant statistical difference (p.05 Conclusion: This study shows that Method of eye movement desensitization and reprocessing as an alternative method to treat or reduce anxiety, aggressive children with thalassemia .Trained Nurses can use this new method is effective in the treatment of anxiety.

  12. The Prevalence of Impaired Glucose Tolerance in Patients with Thalassemia Major in Iran: A systematic Review and Meta-analysis

    Directory of Open Access Journals (Sweden)

    M Azami

    2016-01-01

    Full Text Available Introduction: Impaired glucose tolerance (IGT is one of the most common endocrine complications in major thalassemia patients. IGT prevalence in patients with thalassemia major has been differently in different studies in Iran, about which no total estimate can be proposed. Hence, this meta analysis study aimed to investigate IGT prevalence in major thalassemia patients in Iran. Methods: This study was a systematic review based on electronic databases including Magiran, Iranmedex, SID, Medlib, IranDoc, Scopus, PubMed, Sciencedirect, Cochrane, Embase, Web of Science, Springer, Online Library Wiley as well as Google Scholar search engine without any time limitations up to 2015. All the potentially relevant papers were reviewed independently by two investigators using the standard key words. Then, all the reviewed studies that had inclusion criterion were evaluated. In order to statistically analyze the study data, random effect model was used via Stata software (Ver.11.1. Results: 1346 subjects were examined in 13 studies. IGT prevalence in patients with thalassemia major was estimated 9.6 %( CI: 95%, 6.6-12.5 in Iran. The IGT prevalence in male and female major thalassemia patients were 6.5 %( CI: 95%, 1.6-11.3 and 10.2 %( CI: 95% , 6.1-14.3, respectively. Conclusion: IGT Prevalence was demonstrated to be really high in patients with thalassemia major. As a result, implementing screening programs seems to be necessary in regard with early diagnosis of endocrine disorders especially IGT in these patients. Furthermore, it is recommended that annual glucose tolerance test be taken within such patients.

  13. The effects of beta-carotene and vitamin E on erythrocytes lipid peroxidation in beta-thalassemia patients

    Directory of Open Access Journals (Sweden)

    Soleiman Mahjoub

    2007-12-01

    Full Text Available BACKGROUND: Thalassemia is the most common hereditary disease in the world. Thalassemic erythrocytes are exposed to higher oxidative stress and lipid peroxidation. The aim of this study was to investigate the effects of beta-carotene and vitamin E on erythrocytes lipid peroxidation in beta-thalassemia patients.
    METHODS: A prospective double-blind, placebo-controlled study of the effect of beta-carotene and vitamin E on lipid peroxidation in erythrocytes membranes was performed on 120 beta-thalassemia major patients in four groups. The patients were supplemented for 4 weeks as follows: group 1 with beta-carotene (13 mg/day, group 2 with vitamin E (550 mg/day, group 3 with beta-carotene plus vitamin E and group 4 with placebo. We prepared all capsules for 4 roups in the same shape and color. Measurements of serum beta-carotene and vitamin E were performed by high performance
    liquid chromatography. After preparation of ghost cells from blood specimens, malondialdehyde (MDA was determined as index of lipid peroxidation in erythrocytes membranes before and after treatment. RESULTS: The levels of serum beta-carotene and vitamin E were significantly lower and MDA concentrations in erythrocytes membranes were significantly higher in beta-thalassemia patients compared to controls (P<0.001. In groups that treated with vitamin supplements for 4-weeks, lipid peroxidation rates were significantly reduced after treatment (P<0.001, but in placebo group there was not significant difference (P>0.05.
    CONCLUSIONS: Our findings provide evidence that an oral treatment with beta-carotene and vitamin E can significantly reduce lipid peroxidation of erythrocytes membranes and could be useful in management of beta-thalassemia major patients. KEYWORDS: Beta-thalassemia major, beta-carotene, vitamin E, malondialdehyde, lipid peroxidation.

  14. Exoelectron emission studies of irradiated catalysts. [Gamma radiation; Alpha beams

    Energy Technology Data Exchange (ETDEWEB)

    Kuzembaev, K.K.; Sokolskij, D.V.; Burtsev, A.F.; Asubaev, M.K. (AN Kazakhskoj SSR, Alma-Ata. Inst. Organicheskogo Kataliza i Ehlektrokhimii); Kortov, V.S.; Kalentiev, V.A. (Sverdlovskij Politekhnicheskij Inst., Sverdlovsk (USSR))

    1983-01-01

    Catalytic and exoemission properties of ..gamma..-irradiated Pd/SiO/sub 2/ and ..cap alpha..-irradiated Fe/Al catalysts have been found to change sympatically. The character of the active centers formed on the catalyst surface under irradiation is discussed. 9 refs.

  15. Co-existence of Phenylketonuria (PKU) and beta-Thalassemia Major in a 16 Years Old Girl: A Case Report

    OpenAIRE

    Hossein Karami; Mehrnoush Kosaryan; Aili Aliasgharian; Ali Abbaskhanian; Rayka Sharifian; Mehrdad Taghipour

    2012-01-01

    While thalassemia major (TM) used to be a prevalent genetic disease in the past, however, (PKU) is quite rare in spite of consanquiness marriage rate of about 40% in the region. Preventive efforts for TM started >20 years ago but neonatal screening for PKU started since 2007. This is the first report of co-existence of thalassemia and PKU in Middle East and in consideration of the prevalence of each genes, this chance association is a very unusual event. We report a case of having PKU and TM

  16. Molecular Basis and prenatal diagnosis of B- Thalassemia in Southeast if Iran

    Directory of Open Access Journals (Sweden)

    E. Miri Moghadam

    2005-01-01

    Full Text Available Background and purpose : bata thlassemia is the most common monogenic disorders in Iran. The gene frequency varies the country. Sistan and Baluchistan province, located in the southeast of iran with more than 1200 affected individuals, represents one of the regions where thalassemia id not only an important public health problem but also a socioeconomic problem. As a matter of fact high frequency of ß- thalassemia gene inter- family marriages, evasion of couples to carry out pre- marriage blood test, avoidance of counseling before wedding and eagerness for more children in spite of having ß - thalassemia kids collectively prompted us to eatablish prenatal diagnostic center in khordad 1381(May 2002 in this province.Materials and methods : 140 minor thalassemia couples were referred to our center from May 2002 to Feb. 2004. After admission of the couples to the center their demographic data were collected. 10 ml of blood sample was then collected from couples added with anti- coaqulant(0.5 M EDTA. DNA was subsequently extracted before being amplified by Refractory Mutation System(ARMS techniques vs the common primers of B- gene mutations in Iran. Within the 10 to 12th weeks of pregnancy, chorionic villi samples were taken and subjected onto two techniques namely direct and indirect. We afterwards evaluated the inheritance of mutation in the fetus from any of his/ her parents.Results : We carried out preliminary diagnosis for 56 couples, as well as first round and further step of prenatal diagnostic procedures for another 84 couples(n= 140. 79. 3% of the total number resided in cities, whereas 87.9% were born in Sistan and Baluchistan province. Out of which 30% and 70% had sistany and Baluchi ethnicity respectively. Furthermore, 60.7% had at least one affected child, while 85.7% had consanguineous marriages. Out of the totalnumber, 57.9% were from Sunni minority. 88.05% of the couples demonstrated one of the common mutations identified in Iran

  17. Capping soft tailings from a floating platform

    Energy Technology Data Exchange (ETDEWEB)

    Costello, M.; Van Kesteren, W.; Hedblom, E. [Alberta Univ., Edmonton, AB (Canada). Oil Sands Tailings Research Facility

    2010-07-01

    This PowerPoint presentation discussed methods of capping oil sands soft tailings from a floating platform. Caps on soft sediments at various locations throughout the world were analyzed in order to determine their water content and surface shear strength. A small-scale raining project was conducted at Stryker Bay to cap tailings with 150,000 m{sup 3} of sand. A small-scale rainbowing project at Soda Lake delivered sand at a rate of between 20 to 60 m{sup 3}/hr. A large-scale rainbowing project in Rotterdam delivered 2000 m{sup 3}/hr of sand. The capping and dredging project cost $12 per m{sup 3}. Case studies of various capping projects were presented in order to describe and demonstrate the floating platform technique as well as the installation of wicks and drains. The method can be used to cap very soft tailings with thin, uniform lifts. tabs., figs.

  18. Detection and analysis of thalassemia gene of the fetal amniotic fluid in baise city%广西百色市胎儿羊水地中海贫血基因检测分析

    Institute of Scientific and Technical Information of China (English)

    罗宏成; 王春芳; 向阳; 雷茗; 邓鹰; 韦叶生

    2015-01-01

    目的:运用分子杂交和基因芯片技术对百色市地中海贫血(简称“地贫”)孕妇进行羊水地贫基因检测,了解地贫胎儿的发病率及基因突变类型.方法:采用跨跃断裂点聚合酶链反应(gap-PCR)及膜-反向点杂交技术检测中国人常见的缺失型α-地中海贫血、突变型α-地中海贫血及β-地中海贫血.结果:检出单纯性α-地中海贫血145例(47.3%),中、重型α-地中海贫血52(36.2%),重型 Bart's 水肿胎儿16例(11.3%),中型血红蛋白 H 病(HbH)病36例(24.8%);单纯性β-地中海贫血103例(33.6%),β-地中海贫血中重型28例(27.2%);复合型αβ地中海贫血21例(6.8%);壮族人群α-地中海贫血发生率为56.6%,瑶族人群α-地中海贫血发生率为27.6%,汉族人群检出α-地中海贫血发生率为15.8%;壮族人群β-地中海贫血发生率为66.0%,瑶族人群β-地中海贫血发生率为21.4%,汉族人群β-地中海贫血发生率为12.6%.结论:百色地区胎儿羊水地贫基因检测阳性率较高,特别是中重型地中海贫血类型胎儿阳性率也很高;壮、瑶、汉各民族α-地中海贫血的发病率具有显著性差异(P <0.05),壮、瑶、汉各民族β-地中海贫血的发病率无统计学差异(P >0.05).对该地区孕育胎儿的夫妇应该进行产前地中海贫血基因筛查及孕育知识的长期指导.%Aim:Using the molecular hybridization and gene chip technology to detect the thalassemia gene of pregnant women with thalassemia in Baise city,to learn the incidence and mutation types of the Fetal with thalassemia.Methods:Using the gap Polymerase Chain Reaction(gap-PCR)and membrane-reverse dot hybridization technique to detect the lack of Chinese common type of alpha thalassaemia,the mutant of alpha thalassaemia and beta thalassaemia.Results:One hundred and forty-five cases were di-agnosed with

  19. Direct pulp capping using biodentine

    Directory of Open Access Journals (Sweden)

    Popović-Bajić Marijana

    2014-01-01

    Full Text Available Introduction. Direct pulp capping is therapeutic method of applying medication on exposed pulp in order to allow bridge formation and healing process. The aim of this study was to investigate the effect of Biodentine on exposed dental pulp of Vietnamese pigs. Material and Methods. The study was conducted on 20 teeth of Vietnamese pigs (Sus scrofa domesticus. On buccal surfaces of incisors, canines and first premolars, class V cavities were prepared and pulp was exposed. In the experimental group (six incisors, two canines and two premolars the perforation was covered with Biodentine® (Septodont, Saint-Maur-des-Fosses, France. In the control group, the perforation was covered with MTA® (Dentsply Tulsa Dental, Johnson City, TN, USA. All cavities were restored with glass ionomer cement (GC Fuji VIII, GC Corporation, Tokyo, Japan. Observation period was 28 days. After sacrificing the animals, histological preparations were done to analyze the presence of dentin bridge, an inflammatory reaction of the pulp, pulp tissue reorganization and the presence of bacteria. Results. Dentin bridge was observed in all teeth (experimental and control groups. Inflammation of the pulp was mild to moderate in both groups. Neoangiogenesis and many odontoblast like cells responsible for dentin bridge formation were detected. Necrosis was not observed in any case, neither the presence of Gram-positive bacteria in the pulp. Conclusion. Histological analysis indicated favorable therapeutic effects of Biodentine for direct pulp capping in teeth of Vietnamese pigs. Findings were similar with Biodentine and MTA.

  20. Survey on relation between Major Thalassemia and Desferiexamine with renal tubular damage.

    Directory of Open Access Journals (Sweden)

    H.M. Jafari, M.D.

    2007-01-01

    Full Text Available AbstractBackground and Purpose: Thalassemia is a hereditary quantitative hemoglubinopathy which is common in mediteranian area including IRAN. Homos zygotic thalassemia patients suffer from severe anemia and complication of the disease in many organs. Studies have shown different results about renal complication and disease. Thus, in this study we investigated renal function of thalassemia Major (TM patients in comparison with control group.Materials and Methods: This was a historical cohort Study. The population who TM patients was were admitted to Boalisina hospital, Sari, and control group were brothers and sisters of the patients who were matched in gender and age. Serum and urine markers of renal function were measured and demographic and therapeutic data were gathered from medical records. Analysis of the data was performed using SPSS 11 with statistical test (t, chi square.Results: the Total of 84 (42 patients and, 42 controls patients were studied. The Mean age of the patients was years. Dose of Deferral was 70±19 mg/kg. The results showed no significant statistical differences in levels of microglobulin, 24 urine protein, Excretion Fraction of Na and K between case and control group. There was significant differences in levels of serum BUN, creatinin, Potassium and urine potassium and creatinin between case and control group. Gender, level of Hb and serum Ferritin significantly affected the differences between two groups.Conclusion: In this study, evidences of renal tubular damage were not detected in TM patients. There was increase in levels of Bun, serum potassium, uric Acid, specially with sever anemia, high dose desferal and Iron over load.

  1. Bone metabolism and mineral density in patients with beta-thalassemia major

    International Nuclear Information System (INIS)

    To evaluate bone metabolism in patients with beta-thalassemia major and to determine the factors associated with the development of osteoporosis. We studied 25 patients with thalassemia major with a mean age of 18.4 years (rang 5-31), age and gender matched 24 healthy controls who were attending the outpatient physical medicine and rehabilitation clinic of Akdeniz University Hospital between January 2004 and March 2004 in Turkey. Bone mineral density (BMD) of lumbar spine (L-1-L4) and proximal femur were determined using dual x-ray absorptiometry (DXA). Venous blood samples were obtained for determination of blood cell count and markers of bone formation and resorption. The BMD values, both at lumbar and femoral neck levels were significantly lower in patients compared to controls. Serum N-telopeptide level was slightly higher, whereas osteocalcin was slightly lower in patients, however, the values were not statistically significant. Plasma levels of insulin like growth factor-1 (IGF-I) and insulin like growth factor for binding protein-3 (IGFBP-3) were significantly lower in patients. Also, serum levels of estradiol and progesterone in females, luteinizing, hormone and follicle-stimulating hormone in both genders were significantly lower in patients. Serum levels of free testosterone and total testosterone were lower in patients, but not statistically significant. Patients also had significantly higher serum phosphorous levels and lower serum calcitonin levels compared to controls. The BMD is decreased in thalassemic patients. Growth retardation, growth hormone/IGF-I/IGFP-3 axis dysfunction, gonadal dysfunction and hypothalomo-pituitary-gonadal axis dysfunction may be responsible for the development of osteoporosis in the patients with beta-thalassemia major. (author)

  2. The Correlation between Troponin and Ferritin Serum Levels in the Patients with Major Beta-Thalassemia

    Directory of Open Access Journals (Sweden)

    Iraj Shahramian

    2013-06-01

    Full Text Available Background: Thalassemia is a hereditary hemoglobinopathy whose most common complication is cardiac involvement which ends up in these patients’ death. Since troponin is a sensitive and specific marker for the detection of microinfarct, we studied the relationship between troponin and ferritin serum levels for early diagnosis of cardiac involvement in these patients. Materials and Methods: This case-control study was performed on 80 patients, including 40 patients with major thalassemia and normal echocardiography and 40 healthy volunteers ranging from 6 months to 16 years old. All the children were examined and the eligible children who were not infected with known heart disease, iron deficiency anemia, kidney disease, diabetes, fever, and systemic diseases were enrolled into the study after obtaining written informed consents from their parents. At 8:00 A.M. before breakfast, 5cc blood was drawn from these children. After collecting the samples, ferritin and troponin serum levels were evaluated using ELISA and electro- kymonolonsense methods, respectively. The gathered data were analyzed through the SPSS statistical software (v. 20 and T-test. Besides, P value<0.05 was considered as statistically significant. Results: The study results revealed a significant difference between the two groups regarding the mean of the serum levels of troponin (P=0.045 and ferritin (P=0.001. In this study, no significant correlation was observed between serum troponin and ferritin levels and age and BMI in the two groups. Also, no significant relationship was found between serum troponin level and sex (P=0.264. Conclusions: In microinfarct, troponin increases independent of ferritin; therefore, it can be used for early detection of cardiac involvement in thalassemia patients to determine the sub-clinical effects.

  3. Plasma lipid pattern and red cell membrane structure in β-thalassemia patients in Jakarta

    Directory of Open Access Journals (Sweden)

    Seruni K.U. Freisleben

    2011-08-01

    Full Text Available Background: Over the last 10 years, we have investigated thalassemia patients in Jakarta to obtain a comprehensive picture of iron overload, oxidative stress, and cell damage.Methods: In blood samples from 15 transfusion-dependent patients (group T, 5 non-transfused patients (group N and 10 controls (group C, plasma lipids and lipoproteins, lipid-soluble vitamin E, malondialdehyde (MDA and thiol status were measured. Isolated eryhtrocyte membranes were investigated with electron paramagnetic resonance (EPR spectroscopy using doxyl-stearic acid and maleimido-proxyl spin lables. Data were analyzed statistically with ANOVA.Results: Plasma triglycerides were higher and cholesterol levels were lower in thalassemic patients compared to controls. Vitamin E, group C: 21.8 vs T: 6.2 μmol/L and reactive thiols (C: 144 vs. T: 61 μmol/L were considerably lower in transfused patients, who exert clear signs of oxidative stress (MDA, C: 1.96 vs T: 9.2 μmol/L and of tissue cell damage, i.e., high transaminases plasma levels. Non-transfused thalassemia patients have slight signs of oxidative stress, but no significant indication of cell damage. Erythrocyte membrane parameters from EPR spectroscopy differ considerably between all groups. In transfusion-dependent patients the structure of the erythrocyte membrane and the gradients of polarity and fluidity are destroyed in lipid domains; binding capacity of protein thiols in the membrane is lower and immobilized.Conclusion: In tranfusion-dependent thalassemic patients, plasma lipid pattern and oxidative stress are associated with structural damage of isolated erythrocyte membranes as measured by EPR spectroscopy with lipid and proteinthiol spin labels. (Med J Indones 2011; 20:178-84Keywords: electron paramagnetic resonance spectroscopy, erythrocyte membrane, lipoproteins, oxidative stress, thalassemia, plasma lipids.

  4. Mithramycin encapsulated in polymeric micelles by microfluidic technology as novel therapeutic protocol for beta-thalassemia

    Directory of Open Access Journals (Sweden)

    Capretto L

    2012-01-01

    Full Text Available Lorenzo Capretto1, Stefania Mazzitelli2, Eleonora Brognara2, Ilaria Lampronti2, Dario Carugo1, Martyn Hill1, Xunli Zhang1, Roberto Gambari2, Claudio Nastruzzi31Engineering Sciences, University of Southampton, Southampton, UK; 2Department of Biochemistry and Molecular Biology, 3Department of Pharmaceutical Sciences, University of Ferrara, Ferrara, ItalyAbstract: This report shows that the DNA-binding drug, mithramycin, can be efficiently encapsulated in polymeric micelles (PM-MTH, based on Pluronic® block copolymers, by a new microfluidic approach. The effect of different production parameters has been investigated for their effect on PM-MTH characteristics. The compared analysis of PM-MTH produced by microfluidic and conventional bulk mixing procedures revealed that microfluidics provides a useful platform for the production of PM-MTH with improved controllability, reproducibility, smaller size, and polydispersity. Finally, an investigation of the effects of PM-MTH, produced by microfluidic and conventional bulk mixing procedures, on the erythroid differentiation of both human erythroleukemia and human erythroid precursor cells is reported. It is demonstrated that PM-MTH exhibited a slightly lower toxicity and more pronounced differentiative activity when compared to the free drug. In addition, PM-MTH were able to upregulate preferentially γ-globin messenger ribonucleic acid production and to increase fetal hemoglobin (HbF accumulation, the percentage of HbF-containing cells, and their HbF content without stimulating α-globin gene expression, which is responsible for the clinical symptoms of ß-thalassemia. These results represent an important first step toward a potential clinical application, since an increase in HbF could alleviate the symptoms underlying ß-thalassemia and sickle cell anemia. In conclusion, this report suggests that PM-MTH produced by microfluidic approach warrants further evaluation as a potential therapeutic protocol

  5. Impact of Burden of Thalassemia Major on Health-related Quality of Life in Omani Children.

    Science.gov (United States)

    Mevada, Surekha T; Al Saadoon, Muna; Zachariah, Mathew; Al Rawas, Abdul H; Wali, Yasser

    2016-07-01

    To improve treatment outcome in young patients with homozygous β-thalassemia, evaluation of factors associated with health-related quality of life (HRQoL) is essential to develop clinical, counseling, social, and school support programs. This study was performed to evaluate HRQoL in Omani children with thalassemia who have not been previously evaluated. All patients with thalassemia (5 to 18 y) on regular hypertransfusion from August 2013 to February 2014 were included. Demographic-clinical information was obtained from electronic patient records. The 23-item Pediatric Quality of Life Inventory (PedsQL) 4.0 with 4 multidimensional scales and 3 summary scores was used to assess HRQoL by both patients and caregivers. Statistical analysis was performed using SPSS version 19. Delayed age at diagnosis and delayed initiation of chelation were independently associated with a negative impact on total PedsQL scores; children with higher pretransfusion hemoglobin and lower serum ferritin levels scored better overall. Patients self-rated their HRQoL scores lower as compared with caregivers. Although physical health was more affected than psychosocial health function from both patients' (72.26±22.34 vs. 74.55±18.25) and caregivers' (69.91±19.86 vs. 78.83±18.45) perspective, school functioning domain (68.05±21.30 and 69.71±18.96) scored the lowest. Low ratings for physical health and school functioning highlight the importance of adequate transfusion together with the need for a multidisciplinary teamwork by health care providers, social workers, counselors, family members, and school authorities to provide psychosocial support to prevent mental issues and improve academic performance in these young patients. PMID:27164523

  6. Side effects of Deferasirox Iron Chelation in Patients with Beta Thalassemia Major or Intermedia

    Directory of Open Access Journals (Sweden)

    Murtadha Al-Khabori

    2013-03-01

    Full Text Available Objectives: Chelating agents remain the mainstay in reducing the iron burden and extending patient survival in homozygous beta-thalassemia but adverse and toxic effects may increase with the institution and long term use of this essential therapy. This study aimed to estimate the incidence of deferasirox (DFX side effects in patients with thalassemia major or intermedia.Methods: A retrospective study of 72 patients (mean age: 20.3±0.9 yrs; 36 male, 36 female with thalassemia major or intermedia treated at Sultan Qaboos University Hospital, Oman, was performed to assess the incidence of side effects related to deferasirox over a mean of 16.7 month follow-up period.Results: Six patients experienced rashes and 6 had gastro-intestinal upset. DFX was discontinued in 18 patients for the following reasons: persistent progressive rise(s in serum creatinine (7 patients; 40% mean serum creatinine rise from baseline, feeling unwell (2, severe diarrhea (1, pregnancy (1, death unrelated to chelator (2 and rise in serum transaminases (2. Three patients were reverted to desferoxamine and deferiprone combination therapy as DFX was no longer biochemically effective after 18 months of therapy. There was no correlation between baseline serum ferritin and serum creatinine or a rise in serum creatinine. Cardiac MRI T2* did not change with DFX therapy. However, there was an improvement in liver MRI T2* (p=0.013.Conclusion: Renal side effects related to deferasirox appear to be higher than those reported in published clinical trials. Further larger studies are required to confirm these findings.

  7. Immunological Evaluation of -Thalassemia Major Patients Receiving Oral Iron Chelator Deferasirox

    International Nuclear Information System (INIS)

    Objective: To determine the immune abnormalities and occurrence of infections in transfusion-dependent -thalassemia major patients receiving oral iron chelator deferasirox (DFX). Study Design: An observational study. Place and Duration of Study: Hematology Clinics, King Khalid University Hospital, Riyadh, Saudi Arabia, from July to December 2010. Methodology: Seventeen patients with -thalassemia major (12 females, median age 26 years) receiving deferasirox (DFX) for a median duration of 27 months were observed for any infections and had their immune status determined. Immune parameters studied included serum immunoglobulins and IgG subclasses, serum complement (C3 and C4) and anti-nuclear antibody (ANA) level, total B and T-lymphocytes, CD4+ and CD8+ counts, CD4+/CD8+ ratio, and natural killer (NK) cells. Immunological parameters of the patients were compared with age, gender, serum ferritin level and splenectomy status. Lymphocyte subsets were also compared with age and gender matched normal controls. Results: A considerable reduction in serum ferritin was achieved by DFX from a median level of 2528 to 1875 mol/l. Serum IgG levels were increased in 7 patients. Low C4 levels were found in 9 patients. Total B and T-lymphocytes were increased in 14 patients each, while CD4+, CD8+ and NK cells were increased in 13, 12 and 11 patients respectively. Absolute counts for all lymphocyte subsets were significantly higher compared to the normal controls (p=0.05 for all parameters). Raised levels of IgG were associated with older age, female gender, splenectomized status and higher serum ferritin levels but this did not reach statistical significance except for the higher ferritin levels (p=0.044). Increased tendency to infections was not observed. Conclusion: Patients with -thalassemia major receiving DFX exhibited significant immune abnormalities. Changes observed have been described previously, but could be related to DFX. The immune abnormalities were not associated with

  8. Cap rates and commercial property prices

    OpenAIRE

    Bart Hobijn; John Krainer; David Lang

    2011-01-01

    Commercial real estate capitalization rates have been found to be good indicators of expected returns in commercial properties. Recent declines in these cap rates appear to be signaling a commercial real estate rebound, indicating improved investor expectations of price growth in the market. Movements in national cap rates are the predominant drivers of changes in cap rates in local markets. Therefore, the anticipated commercial real estate rebound is likely to be widespread across many metro...

  9. Ocular injuries from flying bottle caps.

    Science.gov (United States)

    Fonseka, C

    1993-12-01

    Three cases of serious eye injury are described from flying metal caps of carbonated drink bottles. The injuries occurred while attempting to open the bottle in an unconventional and dangerous way. Though injuries from flying bottle caps have been described before, they have occurred when the bottle exploded. This is the first report of eye injuries caused by bottle caps while opening and are similar to the injuries caused by champagne corks. PMID:8143337

  10. Satellite altimeter remote sensing of ice caps

    OpenAIRE

    Rinne, Eero Juhani

    2011-01-01

    This thesis investigates the use of satellite altimetry techniques for measuring surface elevation changes of ice caps. Two satellite altimeters, Radar Altimeter 2 (RA-2) and Geoscience Laser Altimeter System (GLAS) are used to assess the surface elevation changes of three Arctic ice caps. This is the first time the RA-2 has been used to assess the elevation changes of ice caps - targets much smaller than the ice sheets which are the instrument’s primary land ice targets. Algor...

  11. PET CT imaging in extramedullary hematopoiesis and lung cancer surprise in a case with thalassemia intermedia

    Directory of Open Access Journals (Sweden)

    Semra Paydaş

    2011-03-01

    Full Text Available Extramedullary hematopoiesis (EMH is the production of hematopoietic precursors outside the bone marrow cavity, and it causes mass effects according to its localization. Magnetic resonance imaging (MRI and/or computed tomography (CT scans are used most commonly to detect EMH foci. We report herein a case with thalassemia intermedia causing paravertebral mass associated with EMH detected by CT scan. We further evaluated the case with positron emission tomography (PET CT, and lung cancer, which was not revealed in the CT scan, was detected coincidentally.

  12. Effect of pregnancy on differentiation of minor Beta-Thalassemia from iron deficiency

    Directory of Open Access Journals (Sweden)

    Ghanei M

    1997-07-01

    Full Text Available Differential diagnosis of Iron-deficiency anemia and Beta-Thalassemia, two common causes of anemia, affects the treatment in pregnant women. To help the diagnosis, we have tried to asses the pure effect of gestation on diagnostic criteria, eliminating iron and folate deficiency. In a prospective study, 46 thalassemic women were given Ferrous Sulphate tablets and Folate. Some indices, CBC and HbA2 were measured before and after treatment during pregnancy. The haemoglobin and HbA2 decreased and MCV increased, all with significant P value. We concluded that HbA2, independent of iron, will decrease during pregnancy and MCV will increase

  13. Study on Efficacy of Hepatitis B Immunization in Vaccinated Beta-Thalassemia Children in Tehran

    OpenAIRE

    Mahmood Mahmoodian Shooshtari; Saeideh Milani; Zohreh Sharifi

    2010-01-01

    Objective:In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran. Methods:To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 μg) of recombinant HBV vaccine in mont...

  14. The effect of some medical treatments on the red blood cells in the patients with thalassemia

    International Nuclear Information System (INIS)

    The Moessbauer spectroscopy and circular dichroism measurements have been used to investigate the effect of some medical treatments on the red blood cells (RBCs) of the patients with HbH disease and β-thalassemia major, respectively. The results indicate that both splenectomy and treatment with myleran are effective to alleviate the symptoms of anemia for some patients, but both of them are different in the effect on the RBCs of the patients. On the basis of the results, a hypothesis on the course of denaturation in hemoglobin of the patients is proposed

  15. The effect of some medical treatments of Thalassemia on the red blood cells

    International Nuclear Information System (INIS)

    The Moessbauer spectroscopy (MS) and circular dichroism (CD) measurements have been used to investigate the effect of some medical treatments on the red blood cells (RBCs) of the patients with HbH disease and β-thalassemia (Thal.) major, respectively. The results indicate that both splenectomy and treatment with myleran are effective to alleviate the symptoms of anemia for some patients, but both of them are different in the effect on the RBCs of the patients. On the basis of the results, a hypothesis on the course of denaturation in hemoglobin (Hb) of the patients is proposed. (orig.)

  16. Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population

    OpenAIRE

    Babameto-Laku, A; Mitre, A; Berisha, S; Mokini, V; Roko, D

    2011-01-01

    β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal alleles that are present in the Albanian population by using the temporal temperature gradient electrophoresis (TTGE) method because of its high throughput, cost-effectiveness, sensitivity and simplicity. DNA from blood of 68 patients with β-thal, 26 with sickle cell anemia or sickle cell β-thal, 54 parents of these patients and 14 heterozygotes relat...

  17. Genetic Correction of Sickle Cell Anemia and β-Thalassemia: Progress and New Perspective

    OpenAIRE

    Ajay Perumbeti; Punam Malik

    2010-01-01

    Gene therapy for β-globinopathies, particularly β-thalassemia and sickle cell anemia, holds promise for the future as a definitive corrective approach for these common and debilitating disorders. Correction of the β-globinopathies using lentivirus vectors carrying the β- or γ-globin genes and elements of the locus control region has now been well established in murine models, and an understanding of "what is required to cure these diseases" has been developed in the first decade of the 21st c...

  18. Clinical monitoring and management of complications related to chelation therapy in patients with β-thalassemia.

    Science.gov (United States)

    Saliba, Antoine N; El Rassi, Fuad; Taher, Ali T

    2016-01-01

    Iron chelating agents - deferoxamine (DFO), deferiprone (DFP), and deferasirox (DFX) - are used to treat chronic iron overload in patients with β-thalassemia in an attempt to reduce morbidity and mortality related to siderosis. Each of the approved iron chelating agents has its own advantages over the others and also has its own risks, whether related to over-chelation or not. In this review, we briefly discuss the methods to monitor the efficacy of iron chelation therapy (ICT) and the evidence behind the use of each iron chelating agent. We also portray the risks and complications associated with each iron chelating agent and recommend strategies to manage adverse events. PMID:26613264

  19. The effect of repeated transfusions on immunoglobulins levels and complement components in Beta Thalassemia major patients

    OpenAIRE

    Mehrabani K; Mir Ahmadian M; Mohammad K

    1996-01-01

    Beta Thalassemia major patients receive repeated transfusions in order to compensate anemia and use desferal to remove iron overload. Comparing immunoglobulins and complement components in the serum of these patients with normal range shows a significant increase (P<0.001) in IgG, IgA and IgM and a decrease in C3c and C4. The regression analysis confirms a relation between the numbers of transfusions and the mentioned immunological factors that means increasing the number of transfusio...

  20. A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India.

    Science.gov (United States)

    Jain, Sachin; Edison, Eunice S; Mathews, Vikram; Shaji, R V

    2012-05-01

    An elevated HbA(2) (α2δ2) level (>3.5%) is a well-established diagnostic test for heterozygous β-thalassemia. Mutations in the δ-globin gene can cause decreased expression of HbA(2), resulting in heterozygous β-thalassemia with normal levels of HbA(2). In this report, we describe a novel missense mutation in δ-globin (HBD: c.323G>A, Gly > Asp) in an Indian family with heterozygous β-thalassemia with normal HbA(2) levels. PMID:22477537

  1. Synthesis, Characterization, and Tribological Behavior of Oleic Acid Capped Graphene Oxide

    Directory of Open Access Journals (Sweden)

    Tiedan Chen

    2014-01-01

    Full Text Available Graphene oxide (GO nanosheets were prepared by modified Hummers and Offeman methods. Furthermore, oleic acid (OA capped graphene oxide (OACGO nanosheets were prepared and characterized by means of Fourier transform-infrared spectroscopy (FT-IR, transmission electron microscopy (TEM, and X-ray diffraction (XRD. At the same time, the friction and wear properties of OA capped graphite powder (OACG, OACGO, and oleic acid capped precipitate of graphite (OACPG as additives in poly-alpha-olefin (PAO were compared using four-ball tester and SRV-1 reciprocating ball-on-disc friction and wear tester. By the addition of OACGO to PAO, the antiwear ability was improved and the friction coefficient was decreased. Also, the tribological mechanism of the GO was investigated.

  2. The cervical cap: a barrier contraceptive.

    Science.gov (United States)

    Hastings-Tolsma, M T

    1982-01-01

    The cervical cap may eventually prove to be a safe, satisfactory, noninvasive, and nonhormonal contraceptive alternative for women in the US. The cap is currently approved for investigational use only, and is available from a limited number of providers. The Prentif cavity rim cap is the most commonly used and is available in 4 sizes. The soft rubber device is thimble shaped, approximately 1 1/4 inches long, with a narrow groove along the inner surface that creates a suction seal when fitted over the cervix. The inability to match cap and cervical circumferences precisely is a recognized drawback. Theoretically, the cap alone should prevent sperm entry into the uterus, however, the use of a spermicide placed in the dome before insertion is recommended. The cap's effectiveness is not yet documented. Estimates from a 1953 study of 143 users were 92.4/100 women years of use for use effectiveness, and the theoretical effectiveness is believed to be more than 98%. Failures with the cap may result from a variety of reasons, particularly dislodgement. The advantage of the cap over other barrier methods is that it can be inserted any time prior to intercourse and left in place longer. The ideal safety period for placement has not been validated, but a range of 1-7 days has been recommended. The length of time the spermicide remains effective and the cervical effects of prolonged contact are of prime concern. The cap may be used by some women who cannot be properly fitted for a diaphragm due to vaginal or uterine anomalies. Sexual arousal and orgasmic response are reported by some cap users to be more pleasurable with the cap than with the diaphragm. Reported problems with use include discomfort during intercourse and improper fit during some days of the menstrual cycle. Contraindications for use include cervical inconsistencies, infection, allergy to the spermicide or the rubber, and inability to learn proper insertion and removal techniques. Insertion and removal may be

  3. The North Zealand CAP Monitor

    DEFF Research Database (Denmark)

    Nielsen, Minna; Ravn, Pernille; Notander Clausen, Lise;

    2016-01-01

    patients with CAP and effects of interventions to improve the quality of their care. Based on current literature we defined and tested a set of indicators and designed an audit form, a database and a dashboard for presenting the results. Two nurses monthly audited randomly selected files of patients with...... team of clinicians from the emergency department and inpatient units. Measurement of improvement Audit results are presented as a multidimensional dashboard of aggregated baseline data and run charts to monitor changes. Microbiological tests were delayed, often performed after antibiotics were started...... considered necessary required too tedious data collection or were not useful. So, we could reduce the number of indicators by nearly a third. Important steps from audit to quality dashboard were: Defining and testing audit variables Testing the audit form Defining indicators based on the audit variables...

  4. Evolution of a genetic disease in an ethnic isolate: β-Thalassemia in the Jews of Kurdistan

    International Nuclear Information System (INIS)

    β-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the β-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of β-thalassemia-the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. The authors traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. They conclude that several evolutionary mechanisms contributed to the evolution of β-thalassemia in this small ethnic isolate

  5. Relation between Children's Well-Being and Family Function in Children with Thalassemia Major in Isfahan in 2013.

    Science.gov (United States)

    Keshvari, Mahrokh; Ebrahimi, Ahmad; Abedi, Heidarali

    2016-01-01

    The function of every family has a significant impact on the health of its members. Thalassemia is a chronic disease and, as the most common genetic disorder in the world, affects different aspects of life, including emotional well-being. The purpose of this study was to determine the relationship between well-being in children with a Thalassemia major and the function of their families, in Isfahan, Iran, in 2013. This was a cross sectional study and census sampling was used to collect the data. The study sample consisted of 97 children with thalassemia at the age of 10-16 years who referred to the clinic of Imam Reza, Seyed-al-Shohada Hospital in Isfahan. The subjects were evaluated using the Adolescent Psychological Wellbeing Scale and Family Functioning Questionnaire. Data were analyzed using SPSS software. The Pearson correlation coefficient showed that there was a reverse relationship between the overall score of family functioning and illness score of children with thalassemia (r=-0.377, Pstrengthening of family planning and implementation of projects in this regard is also necessary. PMID:27357888

  6. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa

    Directory of Open Access Journals (Sweden)

    Balgir R

    2007-01-01

    Full Text Available Background: The β -thalassemia syndrome is a genetically inherited commonly encountered hematological disorder in the state of Orissa. It causes high degree of morbidity, mortality and fetal wastage in the poor vulnerable people. Aims and Objectives: There is an equal probability (50% chance in every singleton pregnancy that a carrier parent of β -thalassemia major would either bear normal or carrier offspring, but not two offspring with carrier of β -thalassemia major genotype together. For the first time, a carrier parent of β -thalassemia major gene has born progeny (three daughters and a twin male offspring with a carrier status of β -thalassemia major in Dudh Kharia tribal family studied from Sundargarh district of Orissa. Materials and Methods: We screened randomly selected population of Dudh Kharia tribe from Sundargarh district of Orissa for hemoglobinopathies to assess the extent of the problem, design possible interventions and provide genetic counseling to them. A family with twin children was identified during screening in Lata Gaon in Bargaon block of Sundargarh district of Orissa for the above-mentioned study. Background information for this family such as name, age, sex, tribe, native place, reproductive history, family pedigree and clinical signs and symptoms were also recorded. Standardized genetic and hematological procedures and techniques were followed for analysis. Results: Laboratory investigations for alkaline electrophoresis of blood lysate on cellulose acetate membrane showed raised hemoglobin A 2 level in mother (Hb A 2 = 5.3%, in three daughters (Hb A 2 =6.5, 5.9, 5.5% in chronological and birth order, in two twin sons (Hb A 2 =5.9% and 6.0% and normal (Hb A 2 = 3.3% for father. Hence, all the children i.e., three daughters and two twin sons, including the mother were β -thalassemia carriers. Since all the hematological parameters i.e., red cell indices, G-6-PD enzyme activity, ABO and Rhesus blood groups and

  7. MRI marrow observations in thalassemia: the effects of the primary disease, transfusional therapy, and chelation

    International Nuclear Information System (INIS)

    The magnetic resonance bone marrow patterns in thalassemia were evaluated to determine changes produced by transfusion and chelation therapy. Thirteen patients had T1- and T2-weighted images of the spine, pelvis and femurs. Three received no therapy (age range 2.5-3 years). Three were ''hypertransfused'' (transfused to maintain a hemoglobin greater than 10 g/dl) and not chelated because of age (age range 6 months-8 years). Seven were ''hypertransfused'' and chelated (age range 12-35 years). Signal characteristics of marrow were compared with those of surrounding muscle and fat. Fatty marrow (isointense with subcutaneous fat) was compared with red marrow (hypointense to fat and slightly hyperintense to muscle). Marrow hypointense to muscle was identified as iron deposition within red marrow. The untreated group demonstrated signal consistent with red marrow throughout the central and peripheral skeleton. Hypertransfused but not chelated patients demonstrated marked iron deposition in the central and peripheral skeleton. Hypertransfused and chelated patients demonstrated iron deposition in the central skeleton and a mixed appearance of marrow in the peripheral skeleton. The MR appearance of marrow in thalassemia is a reflection of the patient's transfusion and chelation therapy. Iron deposition occurs despite chelation therapy in sites of active red marrow. As red marrow retreats centrally with age, so does the pattern of iron deposition. The long-term biological effects of this iron deposition are unknown. (orig.). With 8 figs., 1 tab

  8. Incidence of hepatocellular carcinoma in patients with thalassemia who had hepatitis C.

    Directory of Open Access Journals (Sweden)

    Shahla Ansari

    2013-06-01

    Full Text Available Hepatitis is the infections of a common cause disease among poly transfused patients. Hepatitis C is slowed progression and inducing HCC. This study assessed HCC incidences, the role of iron and possible antitumor activity of chelators in 170 thalassemia patients using deferoxamine (DFO therapy. They are diagnosed with Hepatitis C due to positive PCR-RNA. They are Treated with IFN. The follow up program including tests every 3 Months and PCR-RNA, AFP and liver US every 6 months. Whenever there was suspicion of liver malignancy, Biopsy was performed. From the total of 170 patients,  59.4% were male, and 40.6% were female. Mean age of thalassemia diagnosis was 2.69±5.403 (1-41 years and mean Age of hepatitis diagnosis was 17.37±7.263 (3-51 years. 92.4 % of Patient's MT, 0.6 % SS, 2.9% TI. the viral genome was 1a3a. 73.5% of patients had first course of therapy. The frequency of AFP greater than 10 was 5.9%. And the incidence of HCC was 0.6 %(1/170 with a 95% confidence interval. The main risk factor for HCC was HCV infection in TM patients, but it was iron activity in TI patients. Iron chelation with DFO appeared to play a Protective role.

  9. The therapeutic potential of genome editing for β-thalassemia [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Astrid Glaser

    2015-12-01

    Full Text Available The rapid advances in the field of genome editing using targeted endonucleases have called considerable attention to the potential of this technology for human gene therapy. Targeted correction of disease-causing mutations could ensure lifelong, tissue-specific expression of the relevant gene, thereby alleviating or resolving a specific disease phenotype. In this review, we aim to explore the potential of this technology for the therapy of β-thalassemia. This blood disorder is caused by mutations in the gene encoding the β-globin chain of hemoglobin, leading to severe anemia in affected patients. Curative allogeneic bone marrow transplantation is available only to a small subset of patients, leaving the majority of patients dependent on regular blood transfusions and iron chelation therapy. The transfer of gene-corrected autologous hematopoietic stem cells could provide a therapeutic alternative, as recent results from gene therapy trials using a lentiviral gene addition approach have demonstrated. Genome editing has the potential to further advance this approach as it eliminates the need for semi-randomly integrating viral vectors and their associated risk of insertional mutagenesis. In the following pages we will highlight the advantages and risks of genome editing compared to standard therapy for β-thalassemia and elaborate on lessons learned from recent gene therapy trials.

  10. Insulin-like growth factor- I and factors affecting it in thalassemia major

    Directory of Open Access Journals (Sweden)

    Ashraf T Soliman

    2015-01-01

    Full Text Available Despite improvement of blood transfusion regimens and iron chelation therapy growth and maturational delay, cardiomyopathy, endocrinopathies and osteoporosis still occur in good number of thalassemic patients. Decreased IGF-1 secretion occurs in the majority of the thalassemic patients particularly those with growth and pubertal delay. Many factors contribute to this decreased synthesis of IGF-I including disturbed growth hormone (GH - insulin-like growth factor - I (IGF-I axis. The possible factors contributing to low IGF-I synthesis in thalassemia and the possible interaction between low IGF-I secretion and the occurrence of these complications is discussed in this mini-review. Improvement of IGF-I secretion in thalassemic patients should be intended to improve linear growth and bone mineral accretion in thalassemic patients. This can be attained through adequate correction of anemia and proper chelation, nutritional supplementation (increasing caloric intake, correction of vitamin D and zinc deficiencies, induction of puberty and correction of hypogonadism at the proper time and treating GH deficiency. This review paper provides a summary of the current state of knowledge regarding IGF-I and factors affecting it in patients with thalassaemia major (TM. Search on PubMed and reference lists of articles with the term ′IGF-I, GH, growth, thalassemia, thyroxine, anemia, vitamin D, and zinc′ was carried out. A hundred and forty-eight articles were found and used in the write up and the data analyzed was included in this report.

  11. HbA2 measurements in β-thalassemia and in other conditions

    Directory of Open Access Journals (Sweden)

    Giovanni Ivaldi

    2014-09-01

    Full Text Available Quite a few papers have been written on the significance of elevated hemoglobin (Hb A2 as a parameter for the diagnosis of β-thalassemia trait, on the cutoff values to be used in diagnostics and on the significance and effects of factors reducing or elevating the expression of HbA2 and last but not least on the need for reliable measurement methods and precise calibrations with accurate standards. However, little has been published on the causes that elevate or reduce the HbA2 levels in β- and a-thalassemia and in other conditions. For a better understanding of the value of a precise measurement of this parameter we summarize and elucidate in this review the direct and indirect mechanisms that cause the variations in HbA2 expression and that influence the value of this parameter in particular conditions. We conclude by explaining the advantages and disadvantages of trusting on a precise measurement in the complete diagnostic contest.

  12. Oral Health and Dentofacial Anomalies among β-THALASSEMIA Major in Erbil City, Iraq

    Science.gov (United States)

    Saeed, Lamya M.; Majeed, Vian O.

    2010-04-01

    Thalassemias are a heterogeneous group of genetic disorders characterized by hypochromic microcytic anemia that caused by deficient synthesis of one or more of globin subunits of human hemoglobin. This study has been conducted in the Northern part of Iraq among 238 subjects having β-thalassemia major (BTM). To evaluate their oral health status, dentofacial anomalies of patients who attended the Thalassemic center in Erbil city, were compared to 258 subjects of a control group according to the criteria suggested by the WHO in 1997, which is used to assess permanent teeth. Only 8.51% of the total study group demonstrated crowding of anterior teeth in one or both segments compared to the control group. Spacing in the incisal segments was higher, namely 19.23% in BTM compared to13.6% in the control group with a statistically significant difference (pindex = 1.570, ∓0.321 and gingival index = 1.205, ∓0.308). Differences were statistically highly significant for all indices (poral hygiene and dental health.

  13. Dental health and dental treatment needs in patients with thalassemia major

    Directory of Open Access Journals (Sweden)

    Marieh Honarmand

    2010-09-01

    Full Text Available Background: Patients with thalassemia major needs more dental care due to their medically compromised condition. The aim of this study was to evaluate the dental health and dental treatment needs of these patients at Zahedan university school of Dentistry in 2009.Materials and Method: In this descriptive-analytical study, 75 patients with thalassemia major were selected in which 42 boys and 33 girls with mean age of 10.79±6.2 referred to community dentistry center as the case group and 75 patients' relatives referred to Zahedan school of Dentistry as the control group. Two groups matched for age and sex. The studied variables were patient's educational level and their parents, dental caries and treatment needs. Statistical analysis was carried out by chi-squared test and t-test.Results: Thalassemic patient had increased average dental caries and missing (d=2.24, m=0.13, D=2.49, M=0.52 than the control group (d=2.13, m=0.05, D=0.97, M=0.35. Pulp therapy was the most needed treatment in patient group and in the other group filling dental caries was needed more. Conclusion: According to the high incidence of dental caries in patient with thalassemic major, effective preventive measures, health education and dental treatment are needed for this group.

  14. Incidence of Hepatocellular Carcinoma in Patients with Thalassemia Who Had Hepatitis C

    Directory of Open Access Journals (Sweden)

    Shahla Ansari

    2013-06-01

    Full Text Available Hepatitis is the infections of a common cause disease among poly transfused patients. Hepatitis C is slowed progression and inducing HCC. This study assessed HCC incidences, the role of iron and possible antitumor activity of chelators in 170 thalassemia patients using deferoxamine (DFO therapy. They are diagnosed with Hepatitis C due to positive PCR-RNA. They are Treated with IFN. The follow up program including tests every 3 Months and PCR-RNA, AFP and liver US every 6 months. Whenever there was suspicion of liver malignancy, Biopsy was performed. From the total of 170 patients, 59.4% were male, and 40.6% were female. Mean age of thalassemia diagnosis was 2.69±5.403 (1-41 years and mean Age of hepatitis diagnosis was 17.37±7.263 (3-51 years. 92.4 % of Patient’s MT, 0.6 % SS, 2.9% TI. the viral genome was 1a3a. 73.5% of patients had first course of therapy. The frequency of AFP greater than 10 was 5.9%. And the incidence of HCC was 0.6 %(1/170 with a 95% confidence interval. The main risk factor for HCC was HCV infection in TM patients, but it was iron activity in TI patients. Iron chelation with DFO appeared to play a Protective role.

  15. Iron overload in non-transfusion-dependent thalassemia: association with genotype and clinical risk factors.

    Science.gov (United States)

    Tantiworawit, Adisak; Charoenkwan, Pimlak; Hantrakool, Sasinee; Choeyprasert, Worawut; Sivasomboon, Chate; Sanguansermsri, Torpong

    2016-06-01

    In the present study, we sought to determine the prevalence of iron overload in patients with non-transfusion-dependent thalassemia (NTDT) and its association with genotype and other clinical risk factors, and to evaluate the correlation between serum ferritin (SF) and liver iron concentration (LIC). Myocardial and liver iron concentration was measured by MRI using a T2* gradient multi-echo sequence in NTDT patients, aged 10-50 years. Of 91 patients, 54 (59 %) had hepatic iron overload. None had cardiac iron overload. The clinical risk factors for hepatic iron overload were age >20 years (adjusted OR 30.2, 95 % CI 4.5-203, p 10 units (adjusted OR 53.6, 95 % CI 3.2-884, p = 0.005). Beta-thalassemia genotype was associated with higher risk of iron overload by univariate analysis, but the association was not significant when adjusted for other clinical factors. The correlation coefficient between SF and LIC was 0.60 (p < 0.001). In conclusion, the prevalence of hepatic iron overload is high in NTDT. Older age, lower hemoglobin level, and higher cumulative RBC transfusion are significant risk factors. SF and LIC show a significant positive correlation. PMID:27052211

  16. Serum bleomycin-detectable iron in patients with thalassemia major with normal range of serum iron.

    Directory of Open Access Journals (Sweden)

    Han,Khin Ei

    1995-06-01

    Full Text Available "Free" iron, a potentially radical-generating low mass iron, and not found in normal human blood, was increased in the serum of blood-transfused thalassemia major patients seen in the Yangon General Hospital, Yangon, Myanmar (Burma. The low mass iron was detected by the bleomycin assay. Fifty-one blood samples were analyzed (from 28 males and 23 females. High "free" iron was detected in 47 sera samples from thalassemia patients. Serum ferritin, which reflects the body store iron, was higher than the normal range (10-200 ng/ml in 49 patients. On the other hand, serum iron of 39 sera samples fell within the normal range (50-150 micrograms/dl. Four were less than 50 micrograms/dl and eight were more than 150 micrograms/dl. Almost all the patients' sera of normal or higher serum iron level contained "free" iron. Thus, almost all the sera from thalassemic patients from Myanmar contain bleomycin-detectable iron, even when serum iron is within the normal range. In developing countries where undernutrition is prevalent (serum albumin in these patients was 3.6 +/- 0.4 g/dl, P < 0.0001 vs. control value of 4.0 - 4.8 g/dl, normal serum iron does not preclude the presence of free iron in the serum.

  17. Beta thalassemia major: The effect of age on glomerular filtration rate

    Directory of Open Access Journals (Sweden)

    Majid Malaki

    2011-01-01

    Full Text Available Thalassemia is a common hereditary hemoglobinopathy disorder that affects many organs in the body. Estimation of kidney function is important, as it is the vital organ that plays the major role in the elimination of accumulated iron as well as the chelating drugs that have to be used as therapy. Sixty- three patients aged 1-29 years, with a mean ± SD of 14 ± 6.7 years, affected with beta- thalassemia major in Tabriz Children′s Hospital were evaluated for their renal function on the basis of their age, serum iron, serum ferritin and serum creatinine levels along with two methods of estimating glomerular filtration rate (GFR; by Schwartz method for those under 18 years old and using Modification of Diet in Renal Disease (MDRD formula for those who were 18 years and above. Elevation of serum creatinine denoting renal dysfunction was not seen in our patients, but hyperfiltration was a common finding. An increasing GFR was observed, which corresponded to age, but no relationships were seen between serum iron, serum ferritin, regular blood transfusion, chelating therapy to GFR.

  18. Nutritional Biomarkers in Children and Adolescents with Beta-Thalassemia-Major: An Egyptian Center Experience

    Directory of Open Access Journals (Sweden)

    Laila M. Sherief

    2014-01-01

    Full Text Available Background and Aim. Trace elements and vitamins play a vital role in human body to perform its function properly. Thalassemic patients are at risk of micronutrient deficiency. This study estimated levels of vitamins A, C, E, B12, folic acid, total homocysteine (tHcy, and methylmalonic acid (MMA along with trace elements, zinc, copper, and selenium in Beta-thalassemia-major patients. Methods. This study included 108 patients with Beta-thalassemia-major and 60 age and sex matched healthy children. Serum levels of vitamin A, E, C, tHcy, and MMA were estimated by high pressure liquid chromatography while serum levels of folic acid and B12 were estimated by thin layer chromatography. Serum zinc, copper, and selenium were determined by atomic absorption spectrometry. Results. There was a significant decrease of vitamins A, C, E, and B12 and trace elements zinc, copper, and selenium in thalassemic patients as compared to controls. tHcy and MMA were significantly elevated in patients. No significant correlations were found between the serum levels of the studied vitamins and trace elements as regards age, frequency of transfusion, duration of transfusion, and serum ferritin. Conclusion. The level of various nutritional biomarkers (vitamins A, C, E, and B12 and trace elements zinc, copper, selenium was reduced in chronically transfused Egyptian thalassemic patient. These patients should have periodic nutritional evaluation and supplementation. Multicenter studies are highly recommended.

  19. Quantification of Myocardial Extracellular Volume Fraction with Cardiac MR Imaging in Thalassemia Major.

    Science.gov (United States)

    Hanneman, Kate; Nguyen, Elsie T; Thavendiranathan, Paaladinesh; Ward, Richard; Greiser, Andreas; Jolly, Marie-Pierre; Butany, Jagdish; Yang, Issac Y; Sussman, Marshall S; Wintersperger, Bernd J

    2016-06-01

    Purpose To quantify myocardial extracellular volume (ECV) by using cardiac magnetic resonance (MR) imaging in thalassemia major and to investigate the relationship between ECV and myocardial iron overload. Materials and Methods With institutional review board approval and informed consent, 30 patients with thalassemia major (mean age ± standard deviation, 34.6 years ± 9.5) and 10 healthy control subjects (mean age, 31.5 years ± 4.4) were prospectively recruited (clinicaltrials.gov identification number NCT02090699). Nineteen patients (63.3%) had prior myocardial iron overload (defined as midseptal T2* tracking was assessed with same-day transthoracic echocardiography. Statistical analysis included use of the two-sample t test, Fisher exact test, and Spearman correlation. Results Unenhanced T1 values were significantly lower in patients with prior myocardial iron overload than in control subjects (850.3 ± 115.1 vs 1006.3 ± 35.4, P Online supplemental material is available for this article. PMID:26653680

  20. ALEPH separated barrel and end-caps

    CERN Multimedia

    Patrice Loïez

    2001-01-01

    The end-caps can be seen at the left and right of the image with the barrel at the centre. Technicians inspect the end-cap before they begin to take it apart. ALEPH was an experiment on the LEP accelerator, which studied high-energy collisions between electrons and positrons from 1989 to 2000.

  1. Microtubule dynamics: Caps, catastrophes, and coupled hydrolysis

    DEFF Research Database (Denmark)

    Flyvbjerg, H.; Holy, T.E.; Leibler, S.

    1996-01-01

    An effective theory is formulated for the dynamics of the guanosine triphosphate (GTP) cap believed to stabilize growing microtubules. The theory provides a ''coarse-grained'' description of the cap's dynamics. ''Microscopic'' details, such as the microtubule lattice structure and the fate of its...... data. A constant nonzero catastrophe rare, identical for both microtubule ends, is predicted at large growth rates. The delay time for dilution-induced catastrophes is stochastic with a simple distribution that fits the experimental one and, like the experimental one, does not depend on the rate of....... A recent experimental result for the size of the minimal cap that can stabilize a microtubule is shown to agree with the result predicted by the cap model, after its parameters have been extracted from previous experimental results. Thus the effective theory and cap model presented here provide a...

  2. Evaluation of Mental Health and Related Factors Among Patients with Beta-Thalassemia Major in South East of Iran

    Directory of Open Access Journals (Sweden)

    Morteza Ashrafi

    2012-04-01

    Full Text Available Objective: Beta-thalassemia major (β-TM is a chronic, genetic and hematological disorder. Children and teenagers with chronic physical illnesses exemplified by thalassemia are vulnerable to emotional and behavioral problems. The aim of this study was to evaluate mental health and its related factors among young patients with beta-thalassemia major. Methods: In this cross-sectional observational descriptive-analytic study, we studied 164 patients suffering from Beta-thalassemia major with age range of 15-24 years who referred for treatment to Ali Ebn-e Abitaleb (AS University Hospital in Zahedan, a city in South East of Iran, during 2009- 2010. The demographic data and pattern of mental health were collected by standard general health questionnaire (GHQ-28.Data was analyzed using statistical software SPSS (version 17.0; Student t test and Chi-square (χ2 were used. Results: In this study, 96 (58.5% patients were male; the mean age of all patients was 18.78 ±2.28. Based on data analysis, 83 patients (50.8% suspected to have psychiatric disorders (58.8% of girls, 44.8% of boys. In addition, frequency of somatic symptoms, depression disorder, anxiety disorder and social dysfunction in all patients were 7.3%, 11.6%, 8.5% and 4.3% respectively. In illiterate patients, 70.4% suspected to have psychiatric disorder. Except for somatic disorder, other mental disorders were more frequent in girls. No significant association was found between mental state and gender, marital and literacy status and occupation. Conclusion : In this study, due to high prevalence of psychological disorders in young patients with Beta-thalassemia major, especially in girls, we suggest implementing further educational psychological programs to decrease the frequency of disorders. Moreover, conducting more quantitative and comprehensive researches is suggested to evaluate specific effective factors in psycho-social health.

  3. Low Dose Ribavirin for Treatment of Hepatitis C Virus Infected Thalassemia Major Patients; New Indications for Combination Therapy

    Directory of Open Access Journals (Sweden)

    Farhad Zamani

    2012-06-01

    Full Text Available Background: Treatment guidelines contraindicate ribavirin for treatment of hepatitis C virus (HCV infection in thalassemia major patients. Nevertheless, the current evidence suggests that ribavirin might be tolerated by these patients.Objectives: Despite this evidence, low dose ribavirin combination therapy has not been compared with peg interferon monotherapy in these patients so far.Patients and Methods: Two hundred eighty thalassemia patients with detectable HCV-RNA PCR (≥ 50 IU/mL and liver histology consistent with chronic HCV infection were self-assigned to receive peg interferon alfa-2a (n = 81 monotherapy or its combination therapy with ribavirin, 600-800 mg QD, according to hemoglobin levels (n = 199. Treatment experienced patients were eligible for this study.Results: Sustained virological response (SVR was significantly higher in patients who received ribavirin (51 % vs. 38 % P = 0.02. In multivariate regression, OR of ribavirin for prediction of SVR was 2.2 (95 % CI 1.24-3.91. The SVR was significantly higher in the ribavirin group in subgroups of patients with more than 24 years of age, elevated ALT, ferritin < 2006 ng/mL, previous treatment failure, genotype 1, positive history of splenectomy, fibrosis score of 0-4 HAI and viral load < 600,000 IU/mL. Treatment discontinuations due to the safety concerns were comparable between the treatment groups (6.5 and 8 %. Furthermore, transfusion intervals were almost halved in patients who received low dose ribavirin.Conclusions: According to the present study, adult thalassemia patients with HCV infection can be treated successfully with low dose ribavirin. Hence, we strongly advise combination therapy in thalassemia patients with aforementioned clinical characteristics. Moreover, ribavirin does not seem to be beneficial in thalassemia patients below 18 years of age.

  4. Respiratory burst enzymes, pro-oxidants and antioxidants status in Bangladeshi population with β-thalassemia major

    Directory of Open Access Journals (Sweden)

    Md. Faruk Hossain

    2015-01-01

    Full Text Available Background: Oxidative stress is intimately associated with many diseases, including β-thalassemia. Aim: The study was to estimate the status of respiratory burst enzymes, pro-oxidants, and antioxidants in β-thalassemia major patients in Bangladesh and to compare with apparently healthy individuals. Materials and Methods: A total of 49 subjects were recruited which included 25 patients (age range 5 to 40 years with β-thalassemia major and 24 controls (age and sex matched. Superoxide dismutase (SOD and catalase (CAT represented respiratory burst enzymes; malondialdehyde (MDA, lipid hydroperoxide (LHP, and xanthine oxidase (XO were measured as pro-oxidants; and glutathione S transferase (GST, vitamin C (Vit.C, and glutathione (GSH were the measured antioxidants. Results: The activity of SOD was significantly (P < 0.001 increased by about 79% and the activity of CAT was significantly (P < 0.001 decreased by more than 34% in the blood of β-thalassemia major patients compared to the control group. The content of pro-oxidants such as MDA, LHP, and XO was significantly (P < 0.001 higher in patients by about 228%, 241.3% and 148.1% respectively compared to control group. The level of GSH and Vit.C were significantly (P = 0.000 decreased in patients by about 59% and 81% versus the healthy group, respectively; and GST activity was significantly (P < 0.001 declined by 44.25% in patients group. Conclusion: β-thalassemia major patients demonstrate raised oxidative stress compared to healthy subjects.

  5. Oxidative instability of hemoglobin E (β26 Glu→Lys) is increased in the presence of free α subunits and reversed by α-hemoglobin stabilizing protein (AHSP): Relevance to HbE/β-thalassemia.

    Science.gov (United States)

    Strader, Michael Brad; Kassa, Tigist; Meng, Fantao; Wood, Francine B; Hirsch, Rhoda Elison; Friedman, Joel M; Alayash, Abdu I

    2016-08-01

    When adding peroxide (H2O2), β subunits of hemoglobin (Hb) bear the burden of oxidative changes due in part to the direct oxidation of its Cys93. The presence of unpaired α subunits within red cells and/or co-inheritance of another β subunit mutant, HbE (β26 Glu→Lys) have been implicated in the pathogenesis and severity of β thalassemia. We have found that although both HbA and HbE autoxidize at initially comparable rates, HbE loses heme at a rate almost 2 fold higher than HbA due to unfolding of the protein. Using mass spectrometry and the spin trap, DMPO, we were able to quantify irreversible oxidization of βCys93 to reflect oxidative instability of β subunits. In the presence of free α subunits and H2O2, both HbA and HbE showed βCys93 oxidation which increased with higher H2O2 concentrations. In the presence of Alpha-hemoglobin stabilizing protein (AHSP), which stabilizes the α-subunit in a redox inactive hexacoordinate conformation (thus unable to undergo the redox ferric/ferryl transition), Cys93 oxidation was substantially reduced in both proteins. These experiments establish two important features that may have relevance to the mechanistic understanding of these two inherited hemoglobinopathies, i.e. HbE/β thalassemia: First, a persistent ferryl/ferryl radical in HbE is more damaging to its own β subunit (i.e., βCys93) than HbA. Secondly, in the presence of excess free α-subunit and under the same oxidative conditions, these events are substantially increased for HbE compared to HbA, and may therefore create an oxidative milieu affecting the already unstable HbE. PMID:26995402

  6. Hematological and Immunological Studies on the Effect of Hepatitis B Virus Vaccination in Hepatitis and Non-Hepatitis, Iron Chelating Dependent or Independent Egyptian Thalassemia Patients

    OpenAIRE

    Eman G. Helal*, Ali F.M. El-Sayed**, Noran Abu- Ouf* , Nahla G. Mohamed** and Mona A.M. Ahmed

    2013-01-01

    Background: Regular transfusion in thalassemia major patients increases life expectancy and improves quality of life. Blood transfusion is the main sources for viral transmission to Thalassemia patients. So, detection of viral antigens using more than one technique must be adopted. Iron and its binding proteins have immune regulatory properties and shifting of immune regulatory balance by iron excess or deficiency may produce severe deleterious physiological effects. Thus, the aim of this stu...

  7. Genetic ablation of root cap cells in Arabidopsis

    OpenAIRE

    Tsugeki, Ryuji; Fedoroff, Nina V.

    1999-01-01

    The root cap is increasingly appreciated as a complex and dynamic plant organ. Root caps sense and transmit environmental signals, synthesize and secrete small molecules and macromolecules, and in some species shed metabolically active cells. However, it is not known whether root caps are essential for normal shoot and root development. We report the identification of a root cap-specific promoter and describe its use to genetically ablate root caps by directing root cap-specific expression of...

  8. The pharmaceutical vial capping process: Container closure systems, capping equipment, regulatory framework, and seal quality tests.

    Science.gov (United States)

    Mathaes, Roman; Mahler, Hanns-Christian; Buettiker, Jean-Pierre; Roehl, Holger; Lam, Philippe; Brown, Helen; Luemkemann, Joerg; Adler, Michael; Huwyler, Joerg; Streubel, Alexander; Mohl, Silke

    2016-02-01

    Parenteral drug products are protected by appropriate primary packaging to protect against environmental factors, including potential microbial contamination during shelf life duration. The most commonly used CCS configuration for parenteral drug products is the glass vial, sealed with a rubber stopper and an aluminum crimp cap. In combination with an adequately designed and controlled aseptic fill/finish processes, a well-designed and characterized capping process is indispensable to ensure product quality and integrity and to minimize rejections during the manufacturing process. In this review, the health authority requirements and expectations related to container closure system quality and container closure integrity are summarized. The pharmaceutical vial, the rubber stopper, and the crimp cap are described. Different capping techniques are critically compared: The most common capping equipment with a rotating capping plate produces the lowest amount of particle. The strength and challenges of methods to control the capping process are discussed. The residual seal force method can characterize the capping process independent of the used capping equipment or CCS. We analyze the root causes of several cosmetic defects associated with the vial capping process. PMID:26654992

  9. Capping stack: An industry in the making

    Institute of Scientific and Technical Information of China (English)

    Jack Chen; Li Xunke; Xie Wenhui; Kang Yongtian

    2013-01-01

    This paper gives an overview of recent development of the marine well containment system (MWCS)after BP Macondo subsea well blowout occurred on April 20,2010 in the Gulf of Mexico.Capping stack,a hardware utilized to contain blowout well at or near the wellhead is the center piece of MWCS.Accessibility to the dedicated capping stacks is gradually becoming a pre-requirement to obtain the permit for offshore drilling/workover,and the industry for manufacturing,maintenance,transportation and operation of the capping stack is in the making.

  10. Genotyping of Kell, Duffy, Kidd and RHD in patients with b Thalassemia

    Directory of Open Access Journals (Sweden)

    Castilho Lilian

    2000-01-01

    Full Text Available Determination of Rh, Kell, Duffy and Kidd phenotypes in addition to ABO is used to prevent the alloimmunization to red blood cells (RBCs antigens and as part of the antibody identification process in patients with beta Thalassemia. However, phenotyping in these patients can be time consuming and difficult to interpret. In these situations, it would be valuable to have an alternative to hemagglutination tests to determine the patient's antigen profile. We used PCR-RFLP to genotype such patients. DNA was prepared from 50 patients with beta Thalassemia who had been phenotyped by routine hemagglutination, and tested for Kell, Kidd, Duffy/GATA mutation by PCR-RFLP. RHD/non-D was analysed by PCR product size associated to RHD gene sequence in intron 4 and exon 10/3'UTR. The genotyping assays were performed without knowledge of phenotype results. For RHD/non-D, 47 were RhD+ and RHD+/RHCE+, and 3 were RhD- and RHD-/RHCE+. For Kell, 48 kk were K2K2 and 2 Kk were K1K2. For Duffy, of 44 samples that had normal GATA box, 8 Fy(a+b- were FYA/FYA, 15 Fy(a+b+ were FYB/FYB, and 19 Fy(a+b+ were FYA/FYB; of the other 4 samples 3 were FYA/FYB and heterozygous GATA mutation, and 1 Fy(a-b- was FYB/FYB, homozygous GATA mutation. Two samples phenotyped as Fy(a+b- that had normal GATA , presented the 265T/298A mutations and two samples phenotyped as Fy(a-b+ were genotyped was FYA/FYB.. For Kidd , 15 Jk(a+b were JKA/JKA, 12 Jk(a-b+ were JKB/JKB, and 20 Jk(a+b+ were JKA/JKB. Three samples phenotyped as JK(a+b+ were genotyped as JKB/JKB. Genotype is more accurate than phenotype for determination of blood groups in polytransfused patients with betaThalassemia. Genotyping in these patients can be helpful to select antigen-negative RBCs for transfusion.

  11. Clinical And Radiological Assessment Of Deferiprone Related Knee Arthropathy In Children With P-Thalassemia Major

    International Nuclear Information System (INIS)

    Objectives: To evaluate deferiprone related knee arthropathy in patients with fi-thalassemia major undergoing chelation therapy with deferiprone (LI). Materials and Methods. This study included 40 patients with β- thalassemia major on deferiprone; their ages ranged from 8 to 18 years with a mean age of 12.6 ± 3 years. Forty age and sex matched patients on desferal served as controls. Patients were subjected to clinical knee joint examination using the modified hemophilia joint health score (JHS), bilateral knee joint X-ray and bilateral knee joint ultrasound. Twenty patients of the deferiprone group with positive knee joint ultrasound findings were subjected to knee MRI. Data collected included age, sex, transfusion index, chelation history (dose, duration, and adverse effects), history of splenectomy and symptoms of knee or other joints arthropathy. Weight, height, BMI and Tanner staging of the patients were recorded. Laboratory investigations included CBC, ALT, serum ferritin, viral hepatitis markers (B,C) and echocardiography. Results: Among deferiprone group; 25 patients (62.5%) had knee symptoms while; 93.3% of the asymptomatic patients had evidence of knee joint affection by JHS compared to 17 symptomatic patients (42.5%) among desferal group (ρ> 0.05). Among deferiprone group 7 patients (17.5%) had symptoms of other joints arthropathy. Knee symptoms were more prevalent with longer duration of deferiprone therapy (ρ<0.05), knee joint effusion in US (ρ< 0.05) and Higher platelet count (ρ<0.05), while in desferal group it was related to poor compliance (ρ< 0.01) and higher serum ferritin levels (ρ=<0.01). JHS ranged from 0-33 with 39 (97.5%) affected patients. JHS was positively correlated to age, weight, height, BMI, Tanner staging and platelet count (ρ<0.01), and negatively correlated to transfusion index (ρ<0.01) with no significant correlation to ultrasound or MRI findings. JHS was higher among splenectomized patients in both groups (ρ<0.01). No

  12. Treating thalassemia major-related iron overload: the role of deferiprone

    Directory of Open Access Journals (Sweden)

    Berdoukas V

    2012-10-01

    Full Text Available Vasilios Berdoukas,1 Kallistheni Farmaki,2 Susan Carson,1 John Wood,3 Thomas Coates11Division of Hematology/Oncology, Children's Hospital Los Angeles, Los Angeles, CA, USA; 2Thalassemia Unit, General Hospital of Corinth, Corinth, Greece; 3Division of Cardiology, Children's Hospital Los Angeles, Los Angeles, CA, USAAbstract: Over the last 20 years, management for thalassemia major has improved to the point where we predict that patients' life expectancy will approach that of the normal population. These outcomes result from safer blood transfusions, the availability of three iron chelators, new imaging techniques that allow specific organ assessment of the degree of iron overload, and improvement in the treatment of hepatitis. In October 2011, the Food and Drug Administration licensed deferiprone, further increasing the available choices for iron chelation in the US. The ability to prescribe any of the three chelators as well as their combinations has led to more effective reduction of total body iron. The ability to determine the amount of iron in the liver and heart by magnetic resonance imaging allows the prescription of the most appropriate chelation regime for patients and to reconsider what our aims with respect to total body iron should be. Recent evidence from Europe has shown that by normalizing iron stores not only are new morbidities prevented but also reversal of many complications such as cardiac failure, hypothyroidism, hypogonadism, impaired glucose tolerance, and type 2 diabetes can occur, improving survival and patients' quality of life. The most effective way to achieve normal iron stores seems to be with the combination of deferoxamine and deferiprone. Furthermore, outcomes should continue to improve in the future. Starting relative intensive chelation in younger children may prevent short stature and abnormal pubertal maturation as well as other iron-related morbidities. Also, further information should become available on the

  13. Psychological Aspects in Young Adults with Beta-Thalassemia Major, control group

    Directory of Open Access Journals (Sweden)

    S. H. Hosseini, M.D.

    2007-09-01

    Full Text Available Background and purpose: Beta-thalassemia major (TM, a chronic, genetically determined hematological disorder, has received little investigation on the psychological aspects of the disease and the psychosocial adjustment of patients with this anemia. In the present study, the aim was to explore the nature of psychopathology according to age, sex, school performance, severity and complications of the disease in TM patients compared with demographically matched healthy persons.Materials and Methods: A controlled anterograde cohort study was conducted at the Thalassemia Unit of Boo-Ali Hospital from June 2003 to November 2005 in Sari, Iran. Psychological aspects were evaluated by the Persian version of symptoms checklist-90-revised questionnaire. Information on relevant demographic characteristics, school performance, severity and complications of the disease was collected by one of the investigators who had created the questionnaire.Results: 125 persons with TM completed the questionnaires and were compared with 125 controls and 250 totally. The mean age of the participants was 18.51± 2.0 years and with a range of 15-25 years. 132 (52.8% were female with equal family status, social and economic status. Patients group reported a significantly lower level of marital status (P<0.01, education level (P<0.0001, school performance (P<0.0001. TM patients were found to have significantly more psychiatric disorders than the control subjects with GSI: 1.16 ± 0.47 vs. 1.01 ± 0.6; (P<0.03, PSD: 54.99 ± 12.59 vs. 46.42 ± 18.76 (P<0.0001, and PSDI 2.02±1.02 vs 2.45 ± 2.22 (P<0.05. We recorded significant changes in the mean scores of somatization (P<0.0001, interpersonal sensitivity (P<0.0001, depression (P<0.003, anxiety (P<0.05 and psychoticism (P<0.03 in the TM patients as compared to the control subjects.Conclusion: These findings show that beta-thalassemia major patients are at risk for psychiatric symptomatology and need appropriate psychiatric

  14. Ab initio alpha-alpha scattering.

    Science.gov (United States)

    Elhatisari, Serdar; Lee, Dean; Rupak, Gautam; Epelbaum, Evgeny; Krebs, Hermann; Lähde, Timo A; Luu, Thomas; Meißner, Ulf-G

    2015-12-01

    Processes such as the scattering of alpha particles ((4)He), the triple-alpha reaction, and alpha capture play a major role in stellar nucleosynthesis. In particular, alpha capture on carbon determines the ratio of carbon to oxygen during helium burning, and affects subsequent carbon, neon, oxygen, and silicon burning stages. It also substantially affects models of thermonuclear type Ia supernovae, owing to carbon detonation in accreting carbon-oxygen white-dwarf stars. In these reactions, the accurate calculation of the elastic scattering of alpha particles and alpha-like nuclei--nuclei with even and equal numbers of protons and neutrons--is important for understanding background and resonant scattering contributions. First-principles calculations of processes involving alpha particles and alpha-like nuclei have so far been impractical, owing to the exponential growth of the number of computational operations with the number of particles. Here we describe an ab initio calculation of alpha-alpha scattering that uses lattice Monte Carlo simulations. We use lattice effective field theory to describe the low-energy interactions of protons and neutrons, and apply a technique called the 'adiabatic projection method' to reduce the eight-body system to a two-cluster system. We take advantage of the computational efficiency and the more favourable scaling with system size of auxiliary-field Monte Carlo simulations to compute an ab initio effective Hamiltonian for the two clusters. We find promising agreement between lattice results and experimental phase shifts for s-wave and d-wave scattering. The approximately quadratic scaling of computational operations with particle number suggests that it should be possible to compute alpha scattering and capture on carbon and oxygen in the near future. The methods described here can be applied to ultracold atomic few-body systems as well as to hadronic systems using lattice quantum chromodynamics to describe the interactions of

  15. Ab initio alpha-alpha scattering

    Science.gov (United States)

    Elhatisari, Serdar; Lee, Dean; Rupak, Gautam; Epelbaum, Evgeny; Krebs, Hermann; Lähde, Timo A.; Luu, Thomas; Meißner, Ulf-G.

    2015-12-01

    Processes such as the scattering of alpha particles (4He), the triple-alpha reaction, and alpha capture play a major role in stellar nucleosynthesis. In particular, alpha capture on carbon determines the ratio of carbon to oxygen during helium burning, and affects subsequent carbon, neon, oxygen, and silicon burning stages. It also substantially affects models of thermonuclear type Ia supernovae, owing to carbon detonation in accreting carbon-oxygen white-dwarf stars. In these reactions, the accurate calculation of the elastic scattering of alpha particles and alpha-like nuclei—nuclei with even and equal numbers of protons and neutrons—is important for understanding background and resonant scattering contributions. First-principles calculations of processes involving alpha particles and alpha-like nuclei have so far been impractical, owing to the exponential growth of the number of computational operations with the number of particles. Here we describe an ab initio calculation of alpha-alpha scattering that uses lattice Monte Carlo simulations. We use lattice effective field theory to describe the low-energy interactions of protons and neutrons, and apply a technique called the ‘adiabatic projection method’ to reduce the eight-body system to a two-cluster system. We take advantage of the computational efficiency and the more favourable scaling with system size of auxiliary-field Monte Carlo simulations to compute an ab initio effective Hamiltonian for the two clusters. We find promising agreement between lattice results and experimental phase shifts for s-wave and d-wave scattering. The approximately quadratic scaling of computational operations with particle number suggests that it should be possible to compute alpha scattering and capture on carbon and oxygen in the near future. The methods described here can be applied to ultracold atomic few-body systems as well as to hadronic systems using lattice quantum chromodynamics to describe the interactions of

  16. Setting up low-risk bone marrow transplantation for children with thalassemia may facilitate pediatric cancer care

    Directory of Open Access Journals (Sweden)

    Lawrence B Faulkner

    2013-01-01

    Full Text Available Background: In many South Asian countries there is shortage of centers providing care for pediatric malignancies. This report describes the experience of the Cure2Children Foundation (C2C in supporting, both financially and professionally, the startup of two bone marrow transplant (BMT centers, one in Pakistan and one in India, for the cure of transfusion-dependent thalassemia. Even though transplantation is generally considered as a more complex and advanced step relatively to basic pediatric cancer care, the authors argue that BMT for low-risk thalassemia patients with a matched sibling is a relatively simple procedure amenable to focused training. Materials and Methods: Since 2008 the C2C, an Italian Nongovernmental Organization (NGO, has supported a BMT network in Pakistan. The primary aim of this project was to assess feasibility, outcomes, and costs of matched-related BMT for thalassemia in young low-risk children employing a well established and quite tolerable strategy employed in Italy. This initiative relied primarily on focused training and task-shift strategies within a structured cooperation program. The initial success of that strategy led to its replication in India with 100 total BMTs performed over the past 4 years, 91 of which were for thalassemia major. Results: Low-risk matched-related BMT in children younger than 5 years could deliver a 92% thalassemia-free survival with 100% performance score and no extensive chronic graft versus host disease (GVHD, for an average cost of 10,000 USD per BMT. Within an existing hospital facility, 50,000 USD were sufficient to renovate and fully equip a 2-3 bedded start up BMT unit capable of performing safe low-risk compatible marrow transplantation. Conclusions: In low resource settings matched-related low-risk BMT for thalassemia can be performed with outcomes comparable to richer countries and with a fraction of the costs. Within structured and intensive cooperation, good outcomes can be

  17. C-CAP Hawaii 2005 Land Cover

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  18. C-CAP Land Cover, Niihau, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  19. C-CAP Land Cover, Maui, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  20. C-CAP Land Cover, Molokai, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  1. C-CAP Land Cover, Kauai, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  2. C-CAP Land Cover, Lanai, Hawaii

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set consists of land derived from high resolution imagery and was analyzed according to the Coastal Change Analysis Program (C-CAP) protocol to determine...

  3. Circumpolar Active-Layer Permafrost System (CAPS)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Circumpolar Active-Layer Permafrost System (CAPS) contains over 100 data sets pertaining to permafrost and frozen ground topics. It also contains detailed...

  4. Profile of deferasirox for the treatment of patients with non-transfusion-dependent thalassemia syndromes

    Science.gov (United States)

    Ricchi, Paolo; Marsella, Maria

    2015-01-01

    It has been clearly shown that iron overload adds progressively significant morbidity and mortality in patients with non-transfusion-dependent thalassemia (NTDT). The lack of physiological mechanisms to eliminate the excess of iron requires effective iron chelation therapy. The reduced compliance to deferoxamine and the risk of severe hematological adverse events during deferiprone treatment have limited the use of both these drugs to correct iron imbalance in NTDT. According to the principles of evidence-based medicine, following the demonstration of the effectiveness and the safety of deferasirox (Exjade®) in a prospective, randomized, controlled trial, deferasirox was approved by the US Food and Drug Administration in May 2013 for the treatment of iron overload associated with NTDT. This review, assessing the available scientific literature, will focus on the profile of DFX in the treatment of non-transfusional hemosiderosis in patients with NTDT. PMID:26719673

  5. Frequency of neutropenia among Turkish and Syrian pediatric thalassemia patients under deferiprone monotherapy.

    Science.gov (United States)

    Belen, Burcu Fatma; Polat, Meltem; Özsevik, Sevinç Nursev; Soylu, Esma

    2016-02-01

    Weekly monitoring of absolute neutrophil count (ANC) under deferiprone therapy in thalassemia patients is recommended to avoid agranulocytosis adverse event. Actually, this recommendation may not be applicable in clinical setting. Our study aimed to establish incidence of neutropenia under deferiprone (DFP) monotherapy when it was monitored bimonthly due to socioeconomic conditions effecting local and refugee thalassemic patients including Syrian origin (SYR; n = 26) and Turkish origin (TR; n = 26) groups. Patients on DFP were followed up for 12 months. Fifteen neutropenic episodes were seen in 5 patients. All 5 patients (4 from SYR group and 1 from TR group) had splenomegaly and hypersplenism, and neutropenia ceased in 4 patients after splenectomy despite continuation of deferiprone. In the TR group, the frequency of patients who have neutropenia (absolute neutrophil count [ANC] studies. Other causes of neutropenia in DFP-treated patients should also be kept in mind. PMID:26918459

  6. Successful Outcome of Chronic Intrahepatic Cholestasis in an Adult Patient with Sickle Cell/β+ Thalassemia

    Directory of Open Access Journals (Sweden)

    Efthymia Vlachaki

    2014-01-01

    Full Text Available Sickle cell/β+ thalassemia (Hb S/β+thal is considered as a variant form of sickle cell disease. Acute episodes of vasoocclusive pain crisis are characteristic for sickle cell disorders and may be complicated by an acute or chronic life-threatening organ dysfunction. Chronic intrahepatic cholestasis is a rare and severe complication in sickle cell disease, characterized by marked hyperbilirubinemia and acute hepatic failure with an often fatal course. Despite the fact that patients with Hb S/β+thal usually have a mild type of disease, herein we describe an interesting case of chronic intrahepatic cholestasis with successful outcome in an adult patient with Hb S/β+thal.

  7. The relationship between heart and liver iron in thalassemia: a quantitative analysis using MRI

    International Nuclear Information System (INIS)

    Objective: To quantify the heart and liver iron overload in thalassemia patients and discuss the relationship of iron deposition between them, and to evaluate the accuracy of using hepatic iron concentration > 15 mg/g dry tissue as an index to predict heart iron deposition as used in clinical practice. Methods: One hundred and three transfusion-dependent patients with thalassemia, who were older than 5 years, underwent MRI heart and liver measurement to obtain T2* values. The Spearman rank correlation was employed to analyze the relationship between cardiac T2* and liver T2* values. By using liver T2* =0.96 ms as standard setting, patients were divided into two groups, and the differences of cardiac T2* values between the two groups were compared by Wilcoxon rank sum test. Then by using cardiac T2* =10, 20 ms as standard setting, patients were divided into 3 groups, and the differences of liver T2* values among the 3 groups were compared by Wilcoxon rank sum test. The ROC curves were drawn to predict the possibility of using hepatic iron concentration > 15 mg/g dry tissue as an index of cardiac iron deposition. Results: The cardiac and liver T2* values of the 103 thalassemia patients showed low correlation (r=0.453, P=0.000). With the liver T2* value reduced, the cardiac T2* value did not decline proportionally. The cardiac T2* value range and median of 25 patients' group whose liver T2* < 0.96 ms were 4.70 to 41.70 ms and 12.10 ms, respectively. The cardiac T2* value range and the median of 78 patients' group whose liver T2* > 0.96 ms were 4.80 to 51.10 ms and 26.10 ms, respectively. There was statistically significant difference between those of the two groups (Z=-3.566, P=0.000). The liver T2* value range and the median of 20 patients' group whose cardiac T2* < 10 ms was 0.68 to 3.83 ms and 1.06 ms, respectively. The liver T2* value range and the median of 58 patients' group whose cardiac T2* ≥20 ms were 0.74 to 14.80 ms and 1.76 ms

  8. CAREST--Multilingual Regional Integration for Health Promotion and Research on Sickle Cell Disease and Thalassemia.

    Science.gov (United States)

    Knight-Madden, Jennifer; Romana, Marc; Villaescusa, Rinaldo; Reid, Marvin; Etienne-Julan, Maryse; Boutin, Laurence; Elana, Gisèle; Elenga, Narcisse; Wheeler, Gillian; Lee, Ketty; Nieves, Rosa; Jones Lecointe, Althea; Lalanne-Mistrih, Marie-Laure; Loko, Gylna; Keclard-Christophe, Lisiane; Hardy-Dessources, Marie-Dominique

    2016-05-01

    Sickle cell disease (SCD) is a significant problem in the Caribbean, where many individuals have African and Asian forebears. However, reliable prevalence data and specific health care programs for SCD are often missing in this region. Closer collaboration between Caribbean territories initiated in 2006 to set up strategies to promote better equity in the health care system for SCD patients led to the formation of CAREST: the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. We present the effectiveness of collaborations established by CAREST to promote SCD newborn screening programs and early childhood care, to facilitate health worker training and approaches for prevention and treatment of SCD complications, and to carry out inter-Caribbean research studies. PMID:26999505

  9. The effect of repeated transfusions on immunoglobulins levels and complement components in Beta Thalassemia major patients

    Directory of Open Access Journals (Sweden)

    Mehrabani K

    1996-06-01

    Full Text Available Beta Thalassemia major patients receive repeated transfusions in order to compensate anemia and use desferal to remove iron overload. Comparing immunoglobulins and complement components in the serum of these patients with normal range shows a significant increase (P<0.001 in IgG, IgA and IgM and a decrease in C3c and C4. The regression analysis confirms a relation between the numbers of transfusions and the mentioned immunological factors that means increasing the number of transfusions, increases immunoglobulins and decreases the complement. Also, this evaluation shows that use of washed RBC and regular in take of desferal will prevent excessive increase of immunoglobulins or decrease of complement

  10. Immunological studies in sickle cell-beta zero thalassemia. Comparison with sickle cell anemia.

    Science.gov (United States)

    Donadi, E A; Falcao, R P

    1989-01-01

    Despite genetic differences, patients with S-beta zero thalassemia or sickle cell anemia present several clinical and hematological similarities. In this study we present evidence that they can also show similar immunological profiles. Both hemoglobinopathies exhibited increased total lymphocyte counts as well as B, CD4 and CD8 lymphocyte subset counts. The CD4/CD8 ratio and the determination of the activity of antibody-dependent cellular cytotoxicity were within the normal range for patients with both diseases. The levels of IgG and IgA were also increased for both conditions, but the amount of factor B of the complement system was elevated only in sickle cell anemia patients. PMID:2628234

  11. Faddeev calculation of 3 alpha and alpha alpha Lambda systems using alpha alpha resonating-group method kernel

    CERN Document Server

    Fujiwara, Y; Kohno, M; Suzuki, Y; Baye, D; Sparenberg, J M

    2004-01-01

    We carry out Faddeev calculations of three-alpha (3 alpha) and two-alpha plus Lambda (alpha alpha Lambda) systems, using two-cluster resonating-group method kernels. The input includes an effective two-nucleon force for the alpha alpha resonating-group method and a new effective Lambda N force for the Lambda alpha interaction. The latter force is a simple two-range Gaussian potential for each spin-singlet and triplet state, generated from the phase-shift behavior of the quark-model hyperon-nucleon interaction, fss2, by using an inversion method based on supersymmetric quantum mechanics. Owing to the exact treatment of the Pauli-forbidden states between the clusters, the present three-cluster Faddeev formalism can describe the mutually related, alpha alpha, 3 alpha and alpha alpha Lambda systems, in terms of a unique set of the baryon-baryon interactions. For the three-range Minnesota force which describes the alpha alpha phase shifts quite accurately, the ground-state and excitation energies of 9Be Lambda are...

  12. Design and implementation of the CAPS receiver

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    In this paper, based on analyses of the Chinese Area Positioning System (CAPS) satellite (GEO satellite) resources and signal properties, the signal power at the port of the receiver antenna is estimated, and the implementation projects are presented for a switching band C to band L CAPS C/A code receiver integrated with GPS receiver suite and for a CAPS dual frequency P code receiver. A microstrip receiving antenna is designed with high sensitivity and wide beam orientation, the RF front end of the C/A code and P code receivers, and a processor is designed for the navigation baseband. A single frequency CAPS C/A code receiver and a CAPS dual frequency P code receiver are built at the same time. A software process flow is provided, and research on relatively key techniques is also conducted, such as signal searching, code loop and carrier loop algorithms, a height assistant algorithm, a dual frequency difference speed measurement technique, a speed measurement technique using a single frequency source with frequency assistance, and a CAPS time correcting algorithm, according to the design frame of the receiver hardware. Research results show that the static plane positioning accuracy of the CAPS C/A code receiver is 20.5-24.6 m, height accuracy is 1.2-12.8 m, speed measurement accuracy is 0.13-0.3 m/s, dynamic plane positioning accuracy is 24.4 m, height accuracy is 3.0 m, and speed measurement accuracy is 0.24 m/s. In the case of C/A code, the timing accuracy is 200 ns, and it is also shown that the positioning accuracy of the CAPS precise code receiver (1σ ) is 5 m from south to north, and 0.8 m from east to west. Finally, research on positioning accuracy is also conducted.

  13. UNDERSTANDING FARMERS’ RESPONSES TO CAP REFORM

    OpenAIRE

    Menozzi, Davide; Fioravanzi, Martina; Donati, Michele

    2014-01-01

    The 2014-2020 Common Agricultural Policy (CAP) reform defines new rules for farmers including regionalization, crop diversification and ecological focus area (EFA). This paper aims to evaluate farmers’ intention to modify their behaviour because of the CAP reform, using the Theory of Planned Behaviour (TPB). A questionnaire was submitted to 71 Italian durum wheat producers assessing their intention to change durum wheat surface and to maintain as EFA part of the arable land. Subjective norms ...

  14. Corrective action program (CAP) in United States

    International Nuclear Information System (INIS)

    The Corrective Action Process (CAP) is one of the most important key issues on the Nuclear Reactor Safety. The experiences on the nuclear power plant operations, including safety culture, maintenance, and so on, should be continuously evaluated and influenced to the KAIZEN (improvement) of the NPP operations. The review of the CAP system in US will be useful for the NPP safety in Japan. (author)

  15. Urinary iron excretion induced by intravenous infusion of deferoxamine in ß-thalassemia homozygous patients

    Directory of Open Access Journals (Sweden)

    Boturão-Neto E.

    2002-01-01

    Full Text Available The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent ß-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 ß-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF. Patients were classified into six groups of increasing clinical severity and were divided into compliant and non-compliant patients depending on their adherence to chronic chelation treatment. Several methods were used as indicators of iron overload. Total gain of transfusion iron, plasma ferritin, and urinary iron excretion in response to 20 to 60 mg/day subcutaneous DF for 8 to 12 h daily are useful to identify iron overload; however, urinary iron excretion in response to 9 g intravenous DF over 24 h and the increase of urinary iron excretion induced by high doses of the chelator are more reliable to identify different degrees of iron overload because of their correlation with the clinical grades of secondary hemochromatosis and the significant differences observed between the groups of compliant and non-compliant patients. Finally, the use of 3-9 g intravenous DF for 6-12 days led to a urinary iron excretion corresponding to 4.1 to 22.4% of the annual transfusion iron gain. Therefore, continuous intravenous DF at high doses may be an additional treatment for these patients, as a complement to the regular subcutaneous infusion at home, but requires individual planning and close monitoring of adverse reactions.

  16. Effects of blood transfusion on exercise capacity in thalassemia major patients.

    Directory of Open Access Journals (Sweden)

    Daniela Benedetto

    Full Text Available Anemia has an important role in exercise performance. However, the direct link between rapid changes of hemoglobin and exercise performance is still unknown.To find out more on this topic, we studied 18 beta-thalassemia major patients free of relevant cardiac dysfunction (age 33.5±7.2 years,males = 10. Patients performed a maximal cardiopulmolmonary exercise test (cycloergometer, personalized ramp protocol, breath-by-breath measurements of expired gases before and the day after blood transfusion (500 cc of red cell concentrates. After blood transfusion, hemoglobin increased from 10.5±0.8 g/dL to 12.1±1.2 (p<0.001, peak VO2 from 1408 to 1546mL/min (p<0.05, and VO2 at anaerobic threshold from 965 to 1024mL/min (p<0.05. No major changes were observed as regards heart and respiratory rates either at peak exercise or at anaerobic threshold. Similarly, no relevant changes were observed in ventilation efficiency, as evaluated by the ventilation vs. carbon dioxide production relationship, or in O2 delivery to the periphery as analyzed by the VO2 vs. workload relationship. The relationship between hemoglobin and VO2 changes showed, for each g/dL of hemoglobin increase, a VO2 increase = 82.5 mL/min and 35 mL/min, at peak exercise and at anaerobic threshold, respectively. In beta-thalassemia major patients, an acute albeit partial anemia correction by blood transfusion determinates a relevant increase of exercise performance, observed both at peak exercise and at anaerobic threshold.

  17. Urinary iron excretion induced by intravenous infusion of deferoxamine in beta-thalassemia homozygous patients.

    Science.gov (United States)

    Boturao-Neto, E; Marcopito, L F; Zago, M A

    2002-11-01

    The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent beta-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 beta-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF). Patients were classified into six groups of increasing clinical severity and were divided into compliant and non-compliant patients depending on their adherence to chronic chelation treatment. Several methods were used as indicators of iron overload. Total gain of transfusion iron, plasma ferritin, and urinary iron excretion in response to 20 to 60 mg/day subcutaneous DF for 8 to 12 h daily are useful to identify iron overload; however, urinary iron excretion in response to 9 g intravenous DF over 24 h and the increase of urinary iron excretion induced by high doses of the chelator are more reliable to identify different degrees of iron overload because of their correlation with the clinical grades of secondary hemochromatosis and the significant differences observed between the groups of compliant and non-compliant patients. Finally, the use of 3-9 g intravenous DF for 6-12 days led to a urinary iron excretion corresponding to 4.1 to 22.4% of the annual transfusion iron gain. Therefore, continuous intravenous DF at high doses may be an additional treatment for these patients, as a complement to the regular subcutaneous infusion at home, but requires individual planning and close monitoring of adverse reactions. PMID:12426631

  18. Compensation of CD55 Underexpression on Red Blood Cells of β-Thalassemia Major Patients.

    Science.gov (United States)

    Obaid, Jamil M A S; Abo El-Nazar, Salma Y; Ghanem, Amal M; El-Hadidi, Abeer S; Mersal, Basma H M

    2015-01-01

    β-Thalassemia (β-thal), is an autosomal recessive disorder caused by mutations at the β gene locus. β-Thalassemia major (β-TM) is a severe form of the disease, characterized by severe hypochromic and hemolytic anemia with an increased need for transfusion. Hemolysis is caused by intoxication, whereas mechanical removal of the affected cells caused by macrophage. Immunological implications are also reported and occur via antibodies and complement. We found previously that complement inhibitor receptor CD55 is underexpressed in these patients. This study concerns the compensatory mechanisms of this diminished expression upon flow cytometry analysis of CD55 and CD59 on the red blood cells (RBCs) of β-thal patients. This study was conducted on 24 patients and 10 healthy controls. Full history and transfusion data was obtained, then a complete blood count (CBC) and flow cytometry analysis of CD55 and CD59 on erythrocytes were carried out. Within our 24 patients, we found a diminished expression of CD55 with a normal expression of CD59. The percentage of cells that express CD55 was significantly different from that of the controls. The mean fluorescence intensity (MFI) of CD55 and CD59 with correlation studies reveals that different factors affect the underexpression of CD55 and also revealed compensatory changes of the defect to minimize the hemolysis occurring in β-thal patients. Compensation of CD55 underexpression in the deficient patients occurred when an increase in the MFI of both the receptor CD55, on the positive cells, and another complement inhibitor receptor CD59. PMID:25897480

  19. A novel self-guided approach to alpha activity training.

    Science.gov (United States)

    van Boxtel, Geert J M; Denissen, Ad J M; Jäger, Mark; Vernon, David; Dekker, Marian K J; Mihajlović, Vojkan; Sitskoorn, Margriet M

    2012-03-01

    Fifty healthy participants took part in a double-blind placebo-controlled study in which they were either given auditory alpha activity (8-12Hz) training (N=18), random beta training (N=12), or no training at all (N=20). A novel wireless electrode system was used for training without instructions, involving water-based electrodes mounted in an audio headset. Training was applied approximately at central electrodes. Post-training measurement using a conventional full-cap EEG system revealed a 10% increase in alpha activity at posterior sites compared to pre-training levels, when using the conventional index of alpha activity and a non-linear regression fit intended to model individual alpha frequency. This statistically significant increase was present only in the group that received the alpha training, and remained evident at a 3 month follow-up session, especially under eyes open conditions where an additional 10% increase was found. In an exit interview, approximately twice as many participants in the alpha training group (53%) mentioned that the training was relaxing, compared to those in either the beta (20%) or no training (21%) control groups. Behavioural measures of stress and relaxation were indicative of effects of alpha activity training but failed to reach statistical significance. These results are discussed in terms of a lack of statistical power. Overall, results suggest that self-guided alpha activity training using this novel system is feasible and represents a step forward in the ease of instrumental conditioning of brain rhythms. PMID:22119661

  20. Splenic uptake of both technetium-99m diphosphonate and technetium-99m sulfur colloid in sickle cell beta degrees thalassemia

    International Nuclear Information System (INIS)

    A 19-year-old black woman with sickle cell beta degrees thalassemia had experienced more than 100 hospital admissions for sickle cell crisis and aseptic necrosis of both femoral heads. Her spleen was enlarged threefold and accumulated both radiocolloid and bone-seeking agent on two occasions, demonstrating an exception to the rule in sickle cell anemia that spleens that take up bone-seeking agents demonstrate functional asplenia. In the context of fever, left upper quadrant pain, and splenomegaly, the pattern of calcification in the patient's spleen as revealed in ultrasound and CT studies suggested possible abscess and led to unnecessary splenectomy. The nuclear medicine studies did not support this diagnosis. Nuclear medicine physicians should not be misled by splenic findings of sickle cell thalassemia (and possibly of other heterozygous sickle cell disorders) that differ from those of the more familiar homozygous sickle cell anemia

  1. Rapid iron loading in a pregnant woman with transfusion-dependent thalassemia after brief cessation of iron chelation therapy

    OpenAIRE

    Farmaki, Kallistheni; Gotsis, Efstathios; Tzoumari, Ioanna; Berdoukas, Vasilios

    2008-01-01

    In general, in women with transfusion-dependent thalassemia, during pregnancy, iron chelation therapy is ceased. We report a splenectomized patient, who was an excellent complier with chelation therapy, who before embarking on a pregnancy showed no evidence of iron overload, with normal cardiac, thyroid function and glucose metabolism. Laboratory findings showed ferritin 67 μg/L, myocardial T2* of 34 ms and liver magnetic resonance imaging (MRI) liver iron concentration of 1 mg/g dry weight. ...

  2. Long-term L-Carnitine Administration reduces Erythropoietin Resistance in Chronic Hemodialysis Patients with Thalassemia Minor

    Directory of Open Access Journals (Sweden)

    Biagio R. Di Iorio

    2007-01-01

    Full Text Available Background and Aim: Both thalassemia and carnitine deficiency represent independent causes of erythropoietin resistance, and thus anemia, in uremic patients. We evaluated the unknown long-term effects of L-carnitine administration in β-thalassemic on chronic hemodialysis.Methods: We studied twelve subjects (M = 8; F = 4 affected by β-thalassemia minor (β-thal; HbA2 level = 6.6 ± 0.6% and forty non-thalassemic subjects (M = 24; F = 16 as controls (C, on chronic hemodialysis treatment. Patients and controls were at target hemoglobin levels (11–12g/dl prior to the study and underwent to i.v. L-carnitine administration for a one year period-time.Results: Groups were comparable for age, gender, serum levels of hemoglobin (Hb, iron, ferritine, PTH and aluminum, transferrin saturation, and dialysis modalities. During the study both groups showed signifi cant Hb increase and erythropoietin (EPO decrease; as a difference, such changes emerged at the 3rd month in C but at the 8th month in β-thal. At start, during the dialysis session the erythrocyte MCV reduced in C but not in β-thal (65.3 ± 3.2 to 65.5 ± 3.2 fl ; NS; along carnitine administration period, however, MCV during dialysis decreased also in β-thal, starting since the 9th month of treatment.Conclusion: This study provides evidence of the lowering of EPO resistance in β-thalassemia patients on hemodialysis due to long-term carnitine administration. Thus, prolonged carnitine supplementation should be suggested to patients on dialysis affected by β-thalassemia with poorly responsive anemia, or requiring large doses of erythropoietin.

  3. Setting up low-risk bone marrow transplantation for children with thalassemia may facilitate pediatric cancer care

    OpenAIRE

    Faulkner, Lawrence B.

    2013-01-01

    Background: In many South Asian countries there is shortage of centers providing care for pediatric malignancies. This report describes the experience of the Cure2Children Foundation (C2C) in supporting, both financially and professionally, the startup of two bone marrow transplant (BMT) centers, one in Pakistan and one in India, for the cure of transfusion-dependent thalassemia. Even though transplantation is generally considered as a more complex and advanced step relatively to basic pediat...

  4. MR imaging of deferoxamine-induced bone dysplasia in an 8-year-old female with thalassemia major

    International Nuclear Information System (INIS)

    Bone changes in thalassemic patients receiving deferoxamine therapy for iron chelation include metaphyseal and growth plate irregularities. We present a case of an 8-year-old female with thalassemia major, who had magnetic resonance imaging after plain radiographs had shown metaphyseal changes in the distal femur. The signal characteristics of these abnormalities were consistent with hyaline cartilage; the surrounding marrow showed no evidence of iron overrload. (orig.)

  5. Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia

    OpenAIRE

    Elsayid, Mohieldin; Al-Shehri, Mohammed Jahman; Alkulaibi, Yasser Abdullah; Alanazi, Abdullah; Qureshi, Shoeb

    2015-01-01

    Background: Notwithstanding, the growing incidence of sickle cell hemoglobinopathies (SCH) such as sickle cell anemia (SCA) or sickle cell disease, sickle/beta-thalassemia; the exact prevalence remains obscure in Saudi Arabia. Hence, this study is an attempt to determine the frequency of SCA and sickle cell trait (SCT) among all anemic patients with SCH treated at the King Abdul-Aziz Medical City (KAMC), Riyadh, Saudi Arabia. Furthermore, the hemoglobin (Hb) S and other Hb patterns (Hb AS and...

  6. Epidural anesthesia for laparoscopic cholecystectomy in a patient with sickle cell anemia, beta thalassemia, and Crohn's disease -A case report-

    OpenAIRE

    Baş, Sema Şanal; Özlü, Onur

    2012-01-01

    A 37-year-old woman diagnosed with sickle cell anemia (SCA), beta (+) thalassemia, Crohn's disease, and liver dysfunction was scheduled for laparoscopic cholecystectomy (LC) due to acute cholecystitis with gall bladder. Regional anesthesia was performed. An epidural catheter was inserted into the 9-10 thoracal epidural space and then 15 ml of 0.5% bupivacaine was injected through the catheter. The level of sensorial analgesia tested with pinprick test reached up to T4. Here we describe the fi...

  7. Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?

    OpenAIRE

    Ottolenghi, S; Giglioni, B; Taramelli, R; Comi, P; Mazza, U; Saglio, G.; Camaschella, C.; Izzo, P; Cao, A; Galanello, R; Gimferrer, E.; Baiget, M.; Gianni, A M

    1982-01-01

    The hematological phenotypes of several Mediterranean patients with delta beta-thalassemia and hereditary persistence of fetal hemoglobin have been characterized. Although clinical and hematological characteristics are essentially superimposable in all heterozygous delta beta-thalassemics, these patients show typical G gamma/A gamma ratios in their Hb F, ranging from approximately 0.07 in Sardinian to approximately 0.15 in Sicilian and approximately 0.35 in Spanish patients. A gamma Sardinian...

  8. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases

    Directory of Open Access Journals (Sweden)

    Santosh Kumar Mondal

    2016-01-01

    Full Text Available Background: Hereditary hemoglobin (Hb disorders are the most commonly encountered single gene disorders in India. Proper timely identification of these disorders is of paramount importance to prevent thalassemia major and clinically severe hemoglobinopathy as well as for epidemiologic purposes. Aims: Our aim was to determine the prevalence of thalassemia and hemoglobinopathy in patients of a tertiary care hospital of West Bengal, India. Materials and Methods: This prospective study was conducted on 119,336 cases over a period of 10 years. After taking clinical history and familial history, complete hemogram report was obtained by an automated cell counter. High-performance liquid chromatography (HPLC was performed on the samples with Bio-Rad Variant using beta thalassemia short program. Confirmatory tests were performed whenever required. Results: A normal Hb pattern was observed in 104,804 (87.83% cases and abnormalities were detected in 14,532 (12.17% patients. β (beta thalassemia trait was the commonest abnormality found in 5,488 (4.60% patients. HbE trait was found in 3,604 (3.02% patients, β thalassemia major/intermedia in 1,981 (1.66% cases, and Eβ thalassemia in 1,384 (1.16 % cases. Other variants detected included HbE disease, sickle-cell disease, sickle β thalassemia, HbD-Punjab trait, HbQ-India trait, α-thal trait, double heterozygous state of HbS and HbE, double heterozygous state of HbS and HbD, HbJ-Meerut, hereditary persistence of fetal hemoglobin (HPFH, HbH, delta β-thal trait, and Hb Lepore. Conclusion: In view of the high prevalence of hemoglobinopathy in this region, a routine premarital screening program is needed for the identification and prevention of high-risk marriages and thus, prevention of the psychosocial trauma of bearing a transfusion-dependent child for life.

  9. Review of alpha_s determinations

    CERN Document Server

    Pich, Antonio

    2013-01-01

    The present knowledge on the strong coupling is briefly summarized. The most precise determinations of alpha_s, at different energies, are reviewed and compared at the Z mass scale, using the predicted QCD running. The impressive agreement achieved between experimental measurements and theoretical predictions constitutes a beautiful and very significant test of Asymptotic Freedom, establishing QCD as the fundamental theory of the strong interaction. The world average value of the strong coupling is found to be alpha_s(M_Z^2)= 0.1186 \\pm 0.0007.

  10. Decay properties of /sup 186/Pb and the lead alpha-decay rate anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Toth, K.S.; Ellis-Akovali, Y.A.; Bingham, C.R.; Moltz, D.M.; Carter, H.K.; Mlekodaj, R.L.; Spejewski, E.H.; Sousa, D.C.

    1984-01-01

    Alpha-decay transitions between ground states of doubly-even nuclei are taken to represent unhindered decays. Reduced widths for these s-wave transitions behave in a regular fashion as a function of both neutron and atomic number. They are largest for nuclei two or four particles beyond a closed shell (with sharp minima at the shell) and they then decrease as the next closure is approached. The s-wave widths for /sup 186/ /sup 188/ /sup 190/ /sup 192/Pb, however, have been reported to behave anomalously, i.e., they purportedly increase by a factor of 30 between /sup 186/Pb (N = 104) and /sup 192/Ob (N = 110) instead of decreasing as one nears N = 126. Theoretical calculations have not reproduced this unusual behavior. The (electron-capture (EC) + ..beta../sup +/) strengths were deduced from K x-ray intensities. A number of corrections are involved in such determinations. We undertook the investigation of the (EC + ..beta../sup +/) decay schemes of these neutron-deficient lead isotopes, in conjunction with studies of their ..cap alpha..-decay properties, to obtain more reliable ..cap alpha..-branching ratios. Herein we present new information on /sup 186/Pb and discuss the partial ..cap alpha.. half-lives for /sup 192/Pb, /sup 190/Pb, /sup 188/Pb, and /sup 186/Pb together with ..cap alpha..-decay rates for even-even nuclei with Z greater than or equal to 78.

  11. The pancreas in {beta}-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbunces

    Energy Technology Data Exchange (ETDEWEB)

    Papakonstantinou, Olympia [University Hospital of Heraklion, Medical School of Crete, Department of Radiology, Heraklion, Crete (Greece); Attikon Hospital, 2nd Department of Radiology, Athens (Greece); Ladis, Vasilios; Kostaridou, Stavroula; Berdousi, Helen; Kattamis, Christos [Thalassemia Unit, University of Athens, ' ' Aghia Sophia' ' Children' s Hospital, Athens (Greece); Maris, Thomas; Gourtsoyiannis, Nicholas [University Hospital of Heraklion, Medical School of Crete, Department of Radiology, Heraklion, Crete (Greece)

    2007-06-15

    The study aims at describing the MR features of pancreas in beta-thalassemia major, investigating the relations between MR findings and glucose disturbances and between hepatic and pancreatic siderosis. Signal intensity ratios of the pancreas and liver to right paraspinous muscle (P/M, L/M) were retrospectively assessed on abdominal MR imaging studies of 31 transfusion-dependent patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 10 healthy controls, using T1- (120/4/90), intermediate in and out of phase - (120/2.7, 4/20), and T2*-(120/15/20) weighted GRE sequences. Using the signal drop of the liver and pancreas on opposed phase images, we recorded serum ferritin and results of oral glucose tolerance test (OGTT). Decreased L/M and P/M on at least the T2* sequence were noticed in 31/31 and 30/31 patients, respectively, but no correlation between P/M and L/M was found. Patients with pathologic OGTT displayed a higher degree of hepatic siderosis (p < 0.04) and signal drop of pancreas on opposed phase imaging (p < 0.025), implying fatty replacement of pancreas. P/M was neither correlated with glucose disturbances nor serum ferritin. Iron deposition in the pancreas cannot be predicted by the degree of hepatic siderosis in beta-thalassemia major. Fatty replacement of the pancreas is common and may be associated with glucose disturbances. (orig.)

  12. Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

    Directory of Open Access Journals (Sweden)

    Zama Messala Luna da Silveira

    2011-01-01

    Full Text Available 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039. In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9% had the β+IVS-I-6 mutation, 15 (48.4% the β0IVS-I-1 mutation, 2 (6.5% the β+IVS-I-110 mutation and 1 (3.2% the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

  13. D-dimer and portal vein status in splenectomized Egyptian β-thalassemia major patients: a prospective single-thalassemia center experience.

    Science.gov (United States)

    Elalfy, Mohsen Saleh; Andrawes, Nevine Gamal; Sadek, Azza Mohamad; Hussein, Omar; Abdou, Abeer

    2012-04-01

    Splenectomy is a recognized cause of portal vein thrombosis. Thirty-six β-thalassemia major (β-TM) patients were followed up for 36 months to evaluate changes in D-dimer levels (as a possible marker for thrombosis development) and portal vein status (by portal duplex ultrasound) at both early and late postlaparoscopic splenectomy periods. They were classified into group I if they were splenectomized in the study period (n = 12), or group II if they were splenectomized during the 5 years preceding the period (n = 24). In group I, D-dimer was measured 5 times: 1 day presplenectomy, the 1st week, 6th week, and 6th month postsplenectomy, and at the study end, whereas in group II, D-dimer was measured twice: at the study entry and end. Portal duplex was done 1 week postsplenectomy (group I) and at study end in both groups. Presplenectomy D-dimer levels in group I were significantly higher compared with the 6th month (P = .042) and study end (P = .03), whereas 1st week (postsplenectomy) D-dimer levels had a high mean of 3497.3 ng/mL, lowered at the 6th week (P = .017), at the 6th month (P = .008), and at study end (P = .005). D-dimer levels in group II showed no difference between study entry and end (P = .104). Portal vein "diameter and flow" were within normal findings in both groups. In this 3-year prospective study, a subclinical hypercoagulable state was detected 1 day prior to splenectomy and in the early postsplenectomy period, as evidenced by high D-dimer levels. Laparoscopic splenectomy was not associated with portal venous thrombosis either clinically or by duplex sonography. PMID:22475301

  14. Electro-bioremediation of Contaminated Sediment by Electrode Enhanced Capping

    OpenAIRE

    Yan, Fei; Reible, Danny

    2015-01-01

    In-situ capping often eliminates or slows natural degradation of hydrocarbon due to the reducing conditions in the sediments. The purpose of this research was to demonstrate a reactive capping technique, an electrode enhanced cap, to produce favorable conditions for hydrocarbon degradation and evaluate this reactive capping technique for contaminated sediment remediation. Two graphite electrodes were placed horizontally at different layers in a cap and connected to external power of 2 V. Redo...

  15. How does the antagonism between capping and anti-capping proteins affect actin network dynamics?

    International Nuclear Information System (INIS)

    Actin-based cell motility is essential to many biological processes. We built a simplified, three-dimensional computational model and subsequently performed stochastic simulations to study the growth dynamics of lamellipodia-like branched networks. In this work, we shed light on the antagonism between capping and anti-capping proteins in regulating actin dynamics in the filamentous network. We discuss detailed mechanisms by which capping and anti-capping proteins affect the protrusion speed of the actin network and the rate of nucleation of filaments. We computed a phase diagram showing the regimes of motility enhancement and inhibition by these proteins. Our work shows that the effects of capping and anti-capping proteins are mainly transmitted by modulation of the filamentous network density and local availability of monomeric actin. We discovered that the combination of the capping/anti-capping regulatory network with nucleation-promoting proteins introduces robustness and redundancy in cell motility machinery, allowing the cell to easily achieve maximal protrusion speeds under a broader set of conditions. Finally, we discuss distributions of filament lengths under various conditions and speculate on their potential implication for the emergence of filopodia from the lamellipodial network.

  16. How does the antagonism between capping and anti-capping proteins affect actin network dynamics?

    Science.gov (United States)

    Hu, Longhua; Papoian, Garegin A.

    2011-09-01

    Actin-based cell motility is essential to many biological processes. We built a simplified, three-dimensional computational model and subsequently performed stochastic simulations to study the growth dynamics of lamellipodia-like branched networks. In this work, we shed light on the antagonism between capping and anti-capping proteins in regulating actin dynamics in the filamentous network. We discuss detailed mechanisms by which capping and anti-capping proteins affect the protrusion speed of the actin network and the rate of nucleation of filaments. We computed a phase diagram showing the regimes of motility enhancement and inhibition by these proteins. Our work shows that the effects of capping and anti-capping proteins are mainly transmitted by modulation of the filamentous network density and local availability of monomeric actin. We discovered that the combination of the capping/anti-capping regulatory network with nucleation-promoting proteins introduces robustness and redundancy in cell motility machinery, allowing the cell to easily achieve maximal protrusion speeds under a broader set of conditions. Finally, we discuss distributions of filament lengths under various conditions and speculate on their potential implication for the emergence of filopodia from the lamellipodial network.

  17. How does the antagonism between capping and anti-capping proteins affect actin network dynamics?

    Energy Technology Data Exchange (ETDEWEB)

    Hu Longhua; Papoian, Garegin A, E-mail: gpapoian@umd.edu [Department of Chemistry and Biochemistry, University of Maryland, College Park, MD 20742 (United States)

    2011-09-21

    Actin-based cell motility is essential to many biological processes. We built a simplified, three-dimensional computational model and subsequently performed stochastic simulations to study the growth dynamics of lamellipodia-like branched networks. In this work, we shed light on the antagonism between capping and anti-capping proteins in regulating actin dynamics in the filamentous network. We discuss detailed mechanisms by which capping and anti-capping proteins affect the protrusion speed of the actin network and the rate of nucleation of filaments. We computed a phase diagram showing the regimes of motility enhancement and inhibition by these proteins. Our work shows that the effects of capping and anti-capping proteins are mainly transmitted by modulation of the filamentous network density and local availability of monomeric actin. We discovered that the combination of the capping/anti-capping regulatory network with nucleation-promoting proteins introduces robustness and redundancy in cell motility machinery, allowing the cell to easily achieve maximal protrusion speeds under a broader set of conditions. Finally, we discuss distributions of filament lengths under various conditions and speculate on their potential implication for the emergence of filopodia from the lamellipodial network.

  18. About Thalassemia

    Science.gov (United States)

    ... people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, ... in people of Mediterranean ancestry, such as Italians, Greeks and Turks. The condition varies according to the ...

  19. Analysis on the positioning precision of CAPS

    Institute of Scientific and Technical Information of China (English)

    JI YuanFa; SUN XiYan

    2009-01-01

    As a newly developed satellite positioning system,the Chinese Area Positioning System (CAPS) Is a typical direct sequence spread spectrum ranging system like GPS.The positioning precision of such navigation signals depends on many factors,including the pseudo-code rate,the signal to noise ratio,the processing methods for tracking loops and so on.This paper describes the CAPS link budget,the solution approach for CAPS positioning,focusing on the autocorrelation function feature of C/A code signals.The CAPS signal measurement precision is studied by the software approach together with theoretical analysis of the range resolution.Because the conventional Delay Lock Loop (DLL) is vulnerable to the impact of noise,a narrow correlator and multiple correlatore as well as the corresponding discrimination methods of phases are proposed,which improves the robustness of DLL and the code-phase resolution of the measurement.The results show that the Improvement of the DLL structure and the discrimination method are the most important way to improve the ranging resolution.Theoretical analysis and experimental results show that a CAPS receiver could reach a 20-m positioning precision by using three satellites with a supported height from an altimeter.

  20. Analysis on the positioning precision of CAPS

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    As a newly developed satellite positioning system, the Chinese Area Positioning System (CAPS) is a typical direct sequence spread spectrum ranging system like GPS. The positioning precision of such navigation signals depends on many factors, including the pseudo-code rate, the signal to noise ratio, the processing methods for tracking loops and so on. This paper describes the CAPS link budget, the solution approach for CAPS positioning, focusing on the autocorrelation function feature of C/A code signals. The CAPS signal measurement precision is studied by the software approach together with theoretical analysis of the range resolution. Because the conventional Delay Lock Loop (DLL) is vul- nerable to the impact of noise, a narrow correlator and multiple correlators as well as the corresponding discrimination methods of phases are proposed, which improves the robustness of DLL and the code-phase resolution of the measurement. The results show that the improvement of the DLL structure and the discrimination method are the most important way to improve the ranging resolution. Theoretical analysis and experimental results show that a CAPS receiver could reach a 20-m positioning precision by using three satellites with a supported height from an altimeter.

  1. Martian north polar cap summer water cycle

    CERN Document Server

    Brown, Adrian J; Becerra, Patricio; Byrne, Shane

    2016-01-01

    A key outstanding question in Martian science is 'are the polar caps gaining or losing mass and what are the implications for past, current and future climate?' To address this question, we use observations from the Compact Reconnaissance Imaging Spectrometer for Mars (CRISM) of the north polar cap during late summer for multiple Martian years, to monitor the summertime water cycle in order to place quantitative limits on the amount of water ice deposited and sublimed in late summer. We establish here for the first time the summer cycle of water ice absorption band signatures on the north polar cap. We show that in a key region in the interior of the north polar cap, the absorption band depths grow until Ls=120, when they begin to shrink, until they are obscured at the end of summer by the north polar hood. This behavior is transferable over the entire north polar cap, where in late summer regions 'flip' from being net sublimating into net condensation mode. This transition or 'mode flip' happens earlier for ...

  2. Carbon nanotube cathode with capping carbon nanosheet

    Science.gov (United States)

    Li, Xin; Zhao, Dengchao; Pang, Kaige; Pang, Junchao; Liu, Weihua; Liu, Hongzhong; Wang, Xiaoli

    2013-10-01

    Here, we report a vertically aligned carbon nanotube (VACNT) film capped with a few layer of carbon nanosheet (FLCN) synthesized by chemical vapor deposition using a carbon source from iron phthalocyanine pyrolysis. The square resistance of the VACNT film is significantly reduced from 1500 Ω/□ to 300 Ω/□ when it is capped with carbon nanosheet. The VACNT capped with carbon nanosheet was transferred to an ITO glass substrate in an inverted configuration so that the carbon nanosheet served as a flexible transparent electrode at the bottom and the VACNT roots served as emission tips. Because all of the VACNTs start growing from a flat silicon substrate, the VACNT roots are very neat and uniform in height. A field emission test of the carbon nanosheet-capped VACNT film proved that the CNT roots show better uniformity in field emission and the carbon nanosheet cap could also potentially serve as a flexible transparent electrode, which is highly desired in photo-assisted field emission.

  3. Review of alpha_s determinations

    OpenAIRE

    Pich, Antonio

    2013-01-01

    The present knowledge on the strong coupling is briefly summarized. The most precise determinations of alpha_s, at different energies, are reviewed and compared at the Z mass scale, using the predicted QCD running. The impressive agreement achieved between experimental measurements and theoretical predictions constitutes a beautiful and very significant test of Asymptotic Freedom, establishing QCD as the fundamental theory of the strong interaction. The world average value of the strong coupl...

  4. World Summary of $\\alpha_s$ (2015)

    CERN Document Server

    Bethke, Siegfried; Salam, Gavin P

    2015-01-01

    This is a preliminary update of the measurements of α s and the determination of the world average value of α s (M Z 2 ) presented in the 2013/2014 edition of the Review of Particle Properties [1]. A number of studies which became available since late 2013 provide new results for each of the (previously 5, now) 6 subclasses of measurements for which pre-average values of $\\alpha_s (M_Z^2)$ are determined.

  5. Capping complex formation at the slow-growing end of the actin filament.

    Science.gov (United States)

    Kostyukova, A S

    2008-12-01

    Actin filaments are polar; their barbed (fast-growing) and pointed (slow-growing) ends differ in structure and dynamic properties. The slow-growing end is regulated by tropomodulins, a family of capping proteins that require tropomyosins for optimal function. There are four tropomodulin isoforms; their distributions vary depending on tissue type and change during development. The C-terminal half of tropomodulin contains one compact domain represented by alternating alpha-helices and beta-structures. The tropomyosin-independent actin-capping site is located at the C-terminus. The N-terminal half has no regular structure; however, it contains a tropomyosin-dependent actin-capping site and two tropomyosin-binding sites. One tropomodulin molecule can bind two tropomyosin molecules. Effectiveness of tropomodulin binding to tropomyosin depends on the tropomyosin isoform. Regulation of tropomodulin binding at the pointed end as well as capping effectiveness in the presence of specific tropomyosins may affect formation of local cytoskeleton and dynamics of actin filaments in cells. PMID:19216712

  6. THE PROTECTIVE ROLE OF VITAMIN E AGAINST OXYGEN FREE RADICAL AND DNA DAMAGE IN CHILDREN WITH β-THALASSEMIA MAJOR

    International Nuclear Information System (INIS)

    The present study aimed to determine the benefits of vitamin E as antioxidant supplement in β thalassemia children who are at risk of iron overload due to multiple blood transfusion and oxidative stress. Antioxidant markers, oxidative products, hematological parameters and biomarkers of cell damage were studied in 24 transfusion-dependent β -thalassemia children before and after treatment with vitamin E at a dose of 10 mg/kg /day for a period of four weeks. Plasma thiobarbituric acid reactive species (TBARS) and urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG) were analyzed as oxidative markers, whereas the plasma vitamin E and the activities of the antioxidant enzymes glutathione peroxidase (GSH-Px), superoxide dismutase(SOD) and catalase were measured to show the antioxidant status of thalassemic children. All these parameters were also studied in 15 non-anemic healthy controls .The results showed that all the patients had increased signs of iron overload and cell damage that were obvious from the increase in serum iron, ferritin, alanine transaminases (ALT), aspartate transaminases (AST) and both total and direct bilirubin .The level of plasma vitamin E in the thalassemia patients were found to be significantly lower as compared to normal subjects (1.3 ± 0.7 and 3.14 ± 1.5 mg % , respectively). The activities of antioxidants enzymes, glutathione peroxidase and catalase in untreated β-thalassemic patients were found to be significantly (P<0.001) less than that of the normal subjects. However, SOD level was significantly increased. Markers of free radical injury such as TBARS , urinary 8-OHdG levels in thalassemic children were significantly higher than control levels . All these changes in the antioxidant status as well as the hematological parameters, iron overload and cell damage markers in β-thalassemia patients showed significant improvement after vitamin E supplementation. Vitamin E levels showed significant positive correlations with each of Hb, GSH

  7. Treatment of β-Thalassemia/Hemoglobin E with Antioxidant Cocktails Results in Decreased Oxidative Stress, Increased Hemoglobin Concentration, and Improvement of the Hypercoagulable State

    Directory of Open Access Journals (Sweden)

    Orn-uma Yanpanitch

    2015-01-01

    Full Text Available Studies on the antioxidant treatment for thalassemia have reported variable outcomes. However, treatment of thalassemia with a combination of hydrophobic and hydrophilic antioxidants and an iron chelator has not been studied. This study investigated the effects of antioxidant cocktails for the treatment of β-thalassemia/hemoglobin E (HbE, which is the most common form of β-thalassemia in Southeast Asia. Sixty patients were divided into two groups receiving N-acetylcysteine, deferiprone, and either curcuminoids (CUR or vitamin E (Vit-E, and their hematological parameters, iron load, oxidative stress, and blood coagulation potential were evaluated. Patients were classified as responders if they showed the improvements of the markers of iron load and oxidative stress, otherwise as nonresponders. During treatment, the responders in both groups had significantly decreased iron load, oxidative stress, and coagulation potential and significantly increased antioxidant capacity and hemoglobin concentration. The significantly maximum increase (P<0.01 in hemoglobin concentration was 11% at month 4 in CUR group responders and 10% at month 10 in Vit-E group responders. In conclusion, the two antioxidant cocktails can improve anemia, iron overload, oxidative stress, and hypercoagulable state in β-thalassemia/HbE.

  8. Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados The profile of beta thalassemia obtained by data mining analysis in a database

    Directory of Open Access Journals (Sweden)

    Ana L. B. Domingos

    2010-02-01

    Full Text Available Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to direct the diagnosis of carriers and calculate the frequency from information stored in an electronic database. Using a Data Mining tool, we evaluated information on 10,960 blood samples deposited in a relational database. Over the years, improved diagnostic technology has facilitated the elucidation of suspected beta thalassemia heterozygote cases with an average frequency of 3.5% of referred cases. We also found that the Brazilian beta thalassemia trait has classic increases of Hb A2 and Hb F (60%, mainly caused by mutations in beta zero thalassemia, especially in the southeast of the country.

  9. Novel therapeutic agents for HbF induction: a new era for treatment of β thalassemia?

    Directory of Open Access Journals (Sweden)

    S.P. Perrine

    2011-12-01

    Full Text Available Fetal globin is endogenous, normally integrated in hematopoietic stem cells in all humans, and available for reactivation. Inducing expression of fetal globin (g-globin gene expression to 60-70% of a globin synthesis produces β-thalassemia trait globin synthetic ratios, and has been shown to reduce anemia to mild levels which do not require regular blood transfusion. Several classes of therapeutics have induced g-globin expression in β thalassemia patients, raised total hemoglobin levels, and even eliminated transfusion requirements in formerly transfusion-dependent patients, demonstrating proof-of-concept of the approach. However, prior generations of therapeutics were not readily feasible for widespread use. Currently, several recently discovered oral therapeutic candidates are more potent and/ or patientfriendly, requiring low oral doses, have distinct molecular mechanisms of action, and can be used in combination regimens. Tailoring therapeutic regimens to patient subsets stratified for solely β+ or a β0 globin mutation, and for quantitative trait loci (QTL which modulate HbF and clinical severity, can guide more effective and informative clinical trials. These advancements provide methods for a rational approach to applying fetal globin gene induction in therapeutic regimens suitable for use in diverse thalassemia patient populations world-wide. 胎儿珠蛋白是内生的,通常结合在所有人类的造血干细胞中,并可进行再激活。 包括胎儿珠蛋白的表达(g-珠蛋白),60%-70% 珠蛋白合成基因表达产生 β地中海贫血特征珠蛋白合成比率,并且已经显示将贫血降低至轻度水平,这不需要常规输血 几类疗法诱导β地中海贫血患者中的g-珠蛋白的表达,升高了血红蛋白的总体水平,甚至让以前依靠输血的患者不再需要输血,这演示了此方法的概念验证。 不过,先前几代疗法未能进行广泛使用。 目前,最近发

  10. Seismic explosion sources on an ice cap

    DEFF Research Database (Denmark)

    Shulgin, Alexey; Thybo, Hans

    2015-01-01

    Controlled source seismic investigation of crustal structure below ice covers is an emerging technique. We have recently conducted an explosive refraction/wide-angle reflection seismic experiment on the ice cap in east-central Greenland. The data-quality is high for all shot points and a full...... crustal model can be modelled. A crucial challenge for applying the technique is to control the sources. Here, we present data that describe the efficiency of explosive sources in the ice cover. Analysis of the data shows, that the ice cap traps a significant amount of energy, which is observed as a...

  11. Design and implementation of the CAPS receiver

    Institute of Scientific and Technical Information of China (English)

    HU YongHui; HUA Yu; HOU Lei; WEI JingFa; WU JianFeng

    2009-01-01

    In this paper,baaed on analyses of the Chinese Area Positioning System (CAPS) satellite (GEO satellite) resources and signal properties,the signal power at the port of the receiver antenna is estimated,and the implementation projects are presented for a switching band C to band L CAPS C/A code receiver integrated with GPS receiver suite and for a CAPS dual frequency P code receiver.A microstrip receiving antenna is designed with high sensitivity and wide beam orientation,the RF front end of the C/A code and P code receivers,and a processor is designed for the navigation baseband.A single frequency CAPS C/A code receiver and a CAPS dual frequency P code receiver are built at the same time.A software process flow is provided,and research on relatively key techniques is also conducted,such as signal searching,code loop and carrier loop algorithms,a height assistant algorithm,a dual frequency difference speed measurement technique,a speed measurement technique using a single frequency source with frequency assistance,and a CAPS time correcting algorithm,according to the design frame of the receiver hardware.Research results show that the static plane positioning accuracy of the CAPS C/A code receiver is 20.5-24.6 m,height accuracy is 1.2-12.8 m,speed measurement accuracy is 0.13-0.3 m/s,dynamic plane positioning accuracy is 24.4 m,height accuracy is 3.0 m,and speed measurement accuracy is 0.24 m/s.In the case of C/A code,the timing accuracy is 200 ha,and it is also shown that the positioning accuracy of the CAPS precise code receiver (1σ) is 5 m from south to north,and 0.8 m from east to west.Finally,research on positioning accuracy is also conducted.

  12. Assembling the CMS yoke end-caps

    CERN Multimedia

    Laurent Guiraud

    2001-01-01

    A crane is used to piece together one of the end-caps that will provide the path for magnetic flux return on the CMS experiment. A total of six end-cap discs will be assembled before being positioned on the barrel yoke to complete the huge 12 500 tonne cylinder yoke. The magnetic field produced will be greater than any other solenoid created to date at 4 T, 100 000 times greater than the Earth's natural magnetic field, and will store enough energy to melt 18 tonnes of gold.

  13. Screening of β-thalassemia trait among pregnant women with NESTROFT

    Directory of Open Access Journals (Sweden)

    Hitesh Sarda

    2015-03-01

    Full Text Available The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT of which naked eye single tube osmotic fragility test (NESTROFT is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89% were NESTROFT positive with mean hemoglobin of 11.2 mg % and packed cell volume of 32.6%. Catering predominantly to Vokkaliga community in whom literature reports increased prevalence of BTT, addition of a cost effective test like NESTROFT in the antenatal panel, appears promising.   β地中海贫血症的流行已迫使医护人员制定更有效的屏幕筛查方法(BTT),其中红细胞渗透脆性肉眼一管法(NESTROFT是成本较低的,亦最为有效的筛查方法。最佳的BTT筛查时间是怀孕期,可以为风险夫妇提供产前诊断。我们在班加罗尔医学院产前诊所对55名怀孕女性进行了红细胞渗透脆性肉眼一管法(NESTROFT)筛查。她们中的12位(21.89%)呈NESTROFT阳性,平均血红蛋白值11.2mg、细胞体积32.6%.在Vokkaliga地区发现了有关β地中海贫血症病例的增加,也许,成本低的、亦高效的红细胞渗透脆性肉眼一管法(NESTROFT)能为这一地区的产前筛查带来帮助。

  14. Serum ferritin levels and endocrinopathy in medically treated patients with β thalassemia major.

    Science.gov (United States)

    Belhoul, Khawla M; Bakir, Maisam L; Saned, Mohamed-Salaheldin; Kadhim, Ahmed M A; Musallam, Khaled M; Taher, Ali T

    2012-07-01

    The association between iron overload indices and pathology of the heart and liver in transfusion-dependent patients with β thalassemia major (TM) has been extensively studied. Nonetheless, data on endocrine disease remains limited. This was a cross-sectional study of 382 TM patients treated with regular transfusions and desferrioxamine at the Thalassemia Center in Dubai, UAE. Retrieved data included demographics, splenectomy status, steady-state serum ferritin levels, and the presence of endocrinopathies (diabetes mellitus, hypothyroidism, hypoparathyroidism, and hypogonadism). Multivariate logistic regression analyses were used to determine which variables were independently associated with the occurrence of each endocrinopathy. The mean age of patients was 15.4 ± 7.6 years, with an equal sex distribution. The mean serum ferritin level was 2597.2 ± 1976.8 μg/l. The frequencies of specific endocrinopathies were diabetes mellitus (10.5%), hypothyroidism (6.3%), hypoparathyroidism (10.5%), and hypogonadism (25.9%). On multivariate logistic regression analysis, patients with a serum ferritin level >2,500 μg/l, but not >1,000-2,500 μg/l, were 3.53 times (95% CI 1.09-11.40) more likely to have diabetes mellitus, 3.25 times (95% CI 1.07-10.90) more likely to have hypothyroidism, 3.27 times (95% CI 1.27-8.39) more likely to have hypoparathyroidism, and 2.75 times (95% CI 1.38-5.49) more likely to have hypogonadism compared to patients with a serum ferritin level ≤1,000 μg/l. However, splenectomized patients with serum ferritin levels ≤2,500 μg/l had comparably high rates of all endocrinopathies as patients with serum ferritin levels >2,500 μg/l. Endocrinopathy is common in TM patients treated with desferrioxamine therapy, especially in patients with serum ferritin levels >2,500 μg/l or those splenectomized. PMID:22281991

  15. Studies of cervical caps: I. Vaginal lesions associated with use of the Vimule cap.

    Science.gov (United States)

    Bernstein, G S; Kilzer, L H; Coulson, A H; Nakamura, R M; Smith, G C; Bernstein, R; Frezieres, R; Clark, V A; Coan, C

    1982-11-01

    Prior to investigating the contraceptive efficacy of cervical caps, we undertook a preliminary study to evaluate potential side effects of these devices. Women who had not previously used a cap were randomly assigned to wear either a Vimule or Cavity Rim Cap (CRC) for as long as seven days. The Vimule cap caused lesions of the portio vaginalis ranging from erythematous impressions to abrasions and frank lacerations. There was variation in the degree of trauma depending, in part, on the size of the cap and duration of wear. Disruption of the epithelium occurred in eight of twelve Vimule users, but the lesions were sometimes difficult to see owing to their location. CRCs were worn by 20 women. This device sometimes left a "suction ring" on the cervix but did not disrupt the epithelium. Two of three long-term users of the Vimule cap who were also studied had unusual formations of the vaginal mucosa suggesting a proliferative reaction to chronic irritation. It is recommended that all women using a Vimule Cap be carefully re-examined and counseled about further use of the device according to the findings of the examination. PMID:7160179

  16. Lyman Alpha Control

    CERN Document Server

    Nielsen, Daniel Stefaniak

    2015-01-01

    This document gives an overview of how to operate the Lyman Alpha Control application written in LabVIEW along with things to watch out for. Overview of the LabVIEW code itself as well as the physical wiring of and connections from/to the NI PCI-6229 DAQ box is also included. The Lyman Alpha Control application is the interface between the ALPHA sequencer and the HighFinesse Wavelength Meter as well as the Lyman Alpha laser setup. The application measures the wavelength of the output light from the Lyman Alpha cavity through the Wavelength Meter. The application can use the Wavelength Meter’s PID capabilities to stabilize the Lyman Alpha laser output as well as switch between up to three frequencies.

  17. New ALPHA-2 magnet

    CERN Multimedia

    Anaïs Schaeffer

    2012-01-01

    On 21 June, members of the ALPHA collaboration celebrated the handover of the first solenoid designed for the ALPHA-2 experiment. The magnet has since been successfully installed and is working well.   Khalid Mansoor, Sumera Yamin and Jeffrey Hangst in front of the new ALPHA-2 solenoid. “This was the first of three identical solenoids that will be installed between now and September, as the rest of the ALPHA-2 device is installed and commissioned,” explains ALPHA spokesperson Jeffrey Hangst. “These magnets are designed to allow us to transfer particles - antiprotons, electrons and positrons - between various parts of the new ALPHA-2 device by controlling the transverse size of the particle bunch that is being transferred.” Sumera Yamin and Khalid Mansoor, two Pakistani scientists from the National Centre for Physics in Islamabad, came to CERN in February specifically to design and manufacture these magnets. “We had the chance to work on act...

  18. Alpha Shapes and Proteins

    DEFF Research Database (Denmark)

    Winter, Pawel; Sterner, Henrik; Sterner, Peter

    We provide a unified description of (weighted) alpha shapes, beta shapes and the corresponding simplicialcomplexes. We discuss their applicability to various protein-related problems. We also discuss filtrations of alpha shapes and touch upon related persistence issues.We claim that the full...... potential of alpha-shapes and related geometrical constructs in protein-related problems yet remains to be realized and verified. We suggest parallel algorithms for (weighted) alpha shapes, and we argue that future use of filtrations and kinetic variants for larger proteins will need such implementation....

  19. Role of iron metabolism genetic determinants in response to chelation therapy in a cohort of β-thalassemia and sickle cell syndromes Italian patients

    Directory of Open Access Journals (Sweden)

    Maria Concetta Renda

    2014-09-01

    Full Text Available In patients with β-thalassemia and sickle cell syndromes there is an important secondary iron overload due to regular blood transfusions and increased duodenal iron absorption. As in genetic hemochromatosis, also the secondary iron storage leads to tissue injury that involves all the major organs: liver, heart, kidney, endocrine glands. At present, in patients with β-thalassemia and sickle cell syndrome, iron chelation therapy is widely used for the treatment of secondary hemochromatosis, to limit the toxic effects of iron overload. In order to maintain the correct homeostasis, several genes are involved in the metabolic pathways of iron, including HFE, FPN (ferroportin and TF (transferrin. In this study we analyzed the genes HFE, FPN and TF, to assess their possible effects on response to therapy with deferasirox and deferiprone, either as monotherapy or in combination therapy in a cohort of patients with β-thalassemia and sickle cell syndromes.

  20. Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.

    Science.gov (United States)

    Zafari, Mandana; Kosaryan, Mehrnoush; Gill, Pooria; Alipour, Abbass; Shiran, Mohammadreza; Jalalli, Hossein; Banihashemi, Ali; Fatahi, Fatemeh

    2016-08-01

    The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002, some studies have examined the sensitivity and specificity of this method for detection of paternally inherited mutation of thalassemia in pregnant women at risk of having affected babies. We conducted a systematic review of published articles that evaluated using this method for early detection of paternally inherited mutation in maternal plasma. A sensitive search of multiple databases was done in which nine studies met our inclusion criteria. The sensitivity and specificity was 99 and 99 %, respectively. The current study found that detection of paternally inherited mutation of thalassemia using analysis of cell-free fetal DNA is highly accurate. This method could replace conventional and invasive methods. PMID:26968552

  1. The Effectiveness of Caps on Political Lobbying

    NARCIS (Netherlands)

    Matejka, M.; Onderstal, A.M.; De Waegenaere, A.M.B.

    2002-01-01

    In this paper, we analyze a lobby game, modelled as an all-pay auction in which interest groups submit bids in order to obtain a political prize.The bids are restricted to be below a cap imposed by the government.For both an incomplete and a complete information setting we show the following results

  2. Mapping of p140Cap phosphorylation sites

    DEFF Research Database (Denmark)

    Repetto, Daniele; Aramu, Simona; Boeri Erba, Elisabetta;

    2013-01-01

    Protein phosphorylation tightly regulates specific binding of effector proteins that control many diverse biological functions of cells (e. g. signaling, migration and proliferation). p140Cap is an adaptor protein, specifically expressed in brain, testis and epithelial cells, that undergoes phosp...

  3. Preliminary Test for Constitutive Models of CAP

    Energy Technology Data Exchange (ETDEWEB)

    Choo, Yeon Joon; Hong, Soon Joon; Hwang, Su Hyun; Lee, Keo Hyung; Kim, Min Ki; Lee, Byung Chul [FNC Tech., Seoul (Korea, Republic of); Ha, Sang Jun; Choi, Hoon [Korea Electric Power Research Institute, Daejeon (Korea, Republic of)

    2010-05-15

    The development project for the domestic design code was launched to be used for the safety and performance analysis of pressurized light water reactors. As a part of this project, CAP (Containment Analysis Package) code has been developing for the containment safety and performance analysis side by side with SPACE. The CAP code treats three fields (vapor, continuous liquid and dispersed drop) for the assessment of containment specific phenomena, and is featured by assessment capabilities in multi-dimensional and lumped parameter thermal hydraulic cell. Thermal hydraulics solver was developed and has a significant progress now. Implementation of the well proven constitutive models and correlations are essential in other for a containment code to be used with the generalized or optimized purposes. Generally, constitutive equations are composed of interfacial and wall transport models and correlations. These equations are included in the source terms of the governing field equations. In order to develop the best model and correlation package of the CAP code, various models currently used in major containment analysis codes, such as GOTHIC, CONTAIN2.0 and CONTEMPT-LT are reviewed. Several models and correlations were incorporated for the preliminary test of CAP's performance and test results and future plans to improve the level of execution besides will be discussed in this paper

  4. Knowledge Management at Cap Gemini Nederland

    NARCIS (Netherlands)

    M.J. Vlaanderen (Marie Jose)

    1998-01-01

    textabstractThe theme of this paper is knowledge management (KM) at an organization that provides information technology (IT) services. It is based on the results of a KM-survey of the Finance Division of Cap Gemini (CG) conducted during the spring of 1997.

  5. INTERNATIONAL WHEAT PRICE TRANSMISSION AND CAP REFORM

    OpenAIRE

    Thompson, Stanley R.; Bohl, Martin T.

    1999-01-01

    We illustrate how CAP policy reforms influence the transmission of world prices to domestic markets. Monthly wheat price data in Germany are used to obtain price transmission elasticities. Correctly accounting for structural breaks and the time series properties of the data yield transmission elasticities that differ dramatically among policy regimes.

  6. ATLAS: End-cap Toroid assembly

    CERN Multimedia

    CERN Audiovisual Unit

    2006-01-01

    In building 191 and building 180- assembly of this massive piece.To reach the top of the end-cap the cranes has to be used and during the assembly you can see welding and hear many tools running background.

  7. Targeted Alpha Therapy: From Alpha to Omega

    International Nuclear Information System (INIS)

    This review covers the broad spectrum of Targeted Alpha Therapy (TAT) research in Australia; from in vitro and in vivo studies to clinical trials. The principle of tumour anti-vascular alpha therapy (TAVAT) is discussed in terms of its validation by Monte Carlo calculations of vascular models and the potential role of biological dosimetry is examined. Summmary of this review is as follows: 1. The essence of TAT 2. Therapeutic objectives 3. TAVAT and Monte Carlo microdosimetry 4. Biological dosimetry 5. Preclinical studies 6. Clinical trials 7. What next? 8. Obstacles. (author)

  8. Dilemmas in considering β-thalassemia status in subjects with borderline HbA2 values: a pilot study in Eastern India

    Directory of Open Access Journals (Sweden)

    Tridip Chatterjee

    2014-09-01

    Full Text Available Interpreting hemoglobin disorders by high performance liquid chromatography can sometimes deceptive, especially with borderline HbA2 values. It is often problematic, especially in antenatal cases if the partner is a known thalassemia trait. We tested for underlying β-thalassemia mutations in 24 subjects with borderline HbA2 values (between 3.0%-4.0%. Amplification refractory mutation system-polymerase chain reaction was used to detect the five common Indian β-thalassemia mutations: [IVS-I-5 (G>C, Cod 15 (G-A, Cod 8/9 (+G, Fr. 41/42 (-TTCT and Cod 26 (G-A]. β-globin gene sequencing was performed if no mutation was detected. β-globin gene defect was not identified in any of the samples. There was no presence of any of the five common mutations in the small cohort. The average value of HbA2 in 24 normal samples was found to be 3.96. The average values for mean cell volume and mean cell hemoglobin (MCH were found to be 82 and 28.8 pg respectively. Among these 24 normal samples, 13 had MCH below 27 pg and 11 had MCH above 27 pg. On the contrary, one thalassemic family was screened, in which the father of an HbE-β thalassemia patient was found to have HbA2 3.1, being a β-thalassemia carrier. Mutation analysis should be offered to all at-risk couples with borderline HbA2, especially those with values between 3.5% and 4.0% and microcytic hypochromic indices. As, cases with some specific mutational background or clinical condition shows abnormally low HbA2, so mutation screening should be performed in other partner if one partner found to be carrier or patient of thalassemia.

  9. Deuterium NMR studies of model membranes containing 1-alkanol anesthetics or alpha-tocopherol

    Energy Technology Data Exchange (ETDEWEB)

    Thewalt, J.L.

    1986-01-01

    The phase behavior of model membranes containing 1-alkanol anesthetics has been studied using deuterium nuclear magnetic resonance spectroscopy. The model membrane systems were aqueous multilamellar dispersions composed of either a saturated phosphatidylcholine perdeuterated on the sn-2 chain containing 1-octanol or 1-decanol or 1,2-dipalmitoyl-sn-glycero-3-phosphorylcholine (DPPC) containing (/sup 2/H/sub 17/)1-octanol or selectively deuterated 1-decanol. The phase changes monitored by /sup 2/H NMR are corroborated using differential scanning calorimetry (DSC). Incorporated 1-octanol or 1-decanol causes the lipid's gel to liquid crystalline phase transition to broaden and its onset temperature (T/sub m/) to decrease. Octanol has more effect than decanol. The phase transition can also be observed in changes in the labelled 1-alkanols' /sup 2/H NMR spectra with temperature. Using specifically deuterated decanols it is found that the phase change is sensed at different temperatures depending on the position of the /sup 2/H label. The second area of study concerns the effect of ..cap alpha..-tocopherol on aqueous dispersions of saturated, acyl chain perdeuterated phosphatidylcholine. /sup 2/H NMR and DSC show that ..cap alpha..-tocopherol broadens and reduces T/sub m/ of the phospholipid gel to liquid crystalline phase transition, and that the gel phase lipid is disrupted by the presence of ..cap alpha..-tocopherol. Above the phase transition ..cap alpha..-tocopherol increases the phospholipid S/sub CD/.

  10. A study of some aspects of auto immunity in children with thalassemia major

    International Nuclear Information System (INIS)

    This study is subjected to estimate the study of the most common autoimmune complications in thalassemia and the prevalence of different auto antibodies so as to evaluate its correlation with personal data including age, sex, growth parameters, Hepatitis C virus infection ferritin level and type of iron chelation therapy methodology : Different Abs including anti cardiolipin, antitistone, ANA, Anti erythropoietin by ELISA technique Hepatitis C virus by ELISA. Ferritin by IRMA (Immune radiometric assay), Protein C, S. Antithrombin III by ELISA result of the study were analyzed by appropriate statistical methods .The results showed that age of Hepatitis C virus negative cases was significantly lower than Hepatitis C virus Positive cases, ferritin levels were significantly higher in patients on defripone than those as desferrioxamine, anti erythropoietin was detected in 93.3% of cases regarding the antithrombotic factors deficiency. Protein C was deficient in 26.67% of cases. Protein S was deficient in 13.33% only and no cases showed anti thrombin III deficiency. No special relation was found between these abnormalities and type of chelation , Conclusions: Auto immunity may be a cofactor in the development of life threatening complication

  11. The spectrum of β-thalassemia mutations in Baghdad, Central Iraq.

    Science.gov (United States)

    Al-Allawi, Nasir A S; Al-Mousawi, Bassam M S; Badi, Ameer I A; Jalal, Sana D

    2013-01-01

    While previous studies from Iraq have focused on β-thalassemia (β-thal) mutations in the northern part of the country, inhabited mainly by Kurds, no study of significance has looked at these mutations in central or southern Iraq, which is inhabited by the Arab majority. For the latter purpose this study was initiated and 103 β-thal carriers from Baghdad at the center of the country were investigated using multiplex polymerase chain reaction (PCR) and reverse hybridization followed by sequencing. The results revealed that a total of 17 mutations were implicated, six of which, IVS-I-110 (G>A), IVS-II-1 (G>A), IVS-I-5 (G>C), codons 8/9 (+G), IVS-I-I (G>A) and codon 44 (-C), constituted 78.0% of the mutations characterized. Among the 17 mutations identified, six are reported for the first time from Iraq and include: IVS-I, 25 bp deletion, IVS-II-848 (C>A), -28 (A>C), IVS-I-130 (G>C), IVS-I-128 (T>G) and codons 41/42 (-TTCT). The findings of the current study clearly illustrate the genetic heterogeneity of the population of central Iraq, as demonstrated by the presence of a combination of Mediterranean, Asian Indian, Kurdish, Iranian, Egyptian, Saudi Arabian and Turkish mutations that is reflective of the historical background of this part of the country. PMID:23826747

  12. Study on Efficacy of Hepatitis B Immunization in Vaccinated Beta-Thalassemia Children in Tehran

    Directory of Open Access Journals (Sweden)

    Mahmood Mahmoodian Shooshtari

    2010-06-01

    Full Text Available Objective:In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran. Methods:To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 μg of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method. Findings:In 99 beta-thalassemic children, 89 (89.9 % were anti-HBs positive (responders and 10 (10.1% anti-HBs negative (non-responders.Three cases (3.03% were anti-HBc positive and 1(1.01% was HBsAg positive. HBV DNA was not detected in any of them.Conclusion:Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.

  13. PSYCHOLOGICAL EVALUATION IN PREGNANT WOMEN AFFECTED BY THALASSEMIA MAJOR: TRAITS AND PERSONALITY

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    Giuseppina Messina

    2010-01-01

    Full Text Available Background. The reproductive and sexual health issues concerning persons affected by thalassemia major are complex. The study was planned to investigate the psychological attitudes and expectations in a group of thalassemic pregnant women attending hospital for regular blood transfusion. Methods. The study included 20 consecutive thalassemic patients and a control group of 42 healthy pregnant volunteers. We evaluated the personality structure by Rorschach's test and the presence of psychic symptoms by SCL-90-R and STAI. Results. Narcissism and sexual traumas are significantly higher in thalassemic women with respects to the control group. Also the percent of anxiety and depression observed with the SCL-90-R was significantly higher than in control group. The score observed with the STAI shows that the state of anxiety changed significantly between thalassemic pregnant women and the control group, even though the scores values aren’t pathologic in neither group. Conclusions. This study addresses the need for developing, implementing and evaluating proper psychological support for thalassemic pregnant patients. The limit of this study is to analyze just thalassemic women because it doesn’t consider other pathologies; so the results can’t be extended to other pathologies different from thalassemic. Moreover, psychological screening and support prior to, during and following pregnancy would be indicated. Since not there are psychological studies in literature on the pregnancy in the thalassemic patients, the evaluation of the effects of pregnancy on the thalassemic disease will be the aim of future psychological investigations.

  14. MRI Evaluation of Liver Iron Concentration in Patients with β-Thalassemia Major

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    Mehran Karimi

    2010-04-01

    Full Text Available β-thalassemia major is a hereditary anemia, characterized by a genetic deficiency in the synthesis of the β-globin chain (1. The main complication of the multiple blood transfusions to these patients is iron overload and the deposition of iron in various organs, such as the reticuloendothelial system, the liver, the heart and the endocrine glands (2.he most reliable method of calculating body iron stores is the biochemical or histochemical assessment of iron in a liver biopsy specimen. Since liver biopsy is an invasive procedure, attempts have been made to use imaging for detection and quantification of liver iron content (4-7. Magnetic resonance imaging (MRI is a technique for the diagnosis of hemochromatosis. Many investigators have shown that hepatic T2 relaxation or intensity ratios in MR images have a significant correlation with hepatic iron content (8-11.In this study, we have evaluated the correlation of the hemochromatosis grades in liver MRIs and liver biopsies to evaluate the precision of liver MRIs in grading hemochromatosis.

  15. Study on Efficacy of Hepatitis B Immunization in Vaccinated beta-thalassemia Children in Tehran

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    Zohreh Sharifi

    2010-06-01

    Full Text Available Objective:In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran.Methods:To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 ?g of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method.Findings:In 99 beta-thalassemic children, 89 (89.9 % were anti-HBs positive (responders and 10 (10.1% anti-HBs negative (non-responders.Three cases(3.03% were anti-HBc positive and 1(1.01% was HBsAg positive. HBV DNA was not detected in any of them.Conclusion:Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.

  16. Consequences of Delayed Prenatal Diagnosis of β-Thalassemia in Mainland China.

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    Li, Jian; Yan, Jin-Mei; Xie, Xing-Mei; Zhou, Jian-Ying; Li, Ru; Li, Dong-Zhi

    2016-06-01

    β-Thalassemia (β-thal) is one of the most common inherited single gene disorders in the world. The aim of this study was to describe the gestational age at prenatal diagnosis (PND) for β-thal in at-risk women in mainland China. All pregnant women at-risk for β-thal and undergoing PND at a Mainland Chinese tertiary obstetric center between January 2005 and December 2014 were included. Information required for the survey was obtained from prenatal records and delivery charts. In total, 1307 women underwent PND for β-thal. The mean gestational age for the procedure was 18.5 weeks. There were 384 (29.0%) women with fetal diagnosis in early trimester (24 weeks). Although the proportion of patients undergoing early PND increased along with the time span, the mean n gestational age was not decreased significantly during the study period. The delay in PND deprived couples of the opportunity to make informed decisions early in pregnancy. PMID:26930109

  17. Evaluation of some essential elements levels in thalassemia patients in Mosul, Iraq

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    Objective was to evaluate the levels of some essential elements in thalassemic patients in Mousel, Iraq. One hundred and five thalassemic blood transfusion dependent children, 2.5-18 years of age attending Ibn-Al-Atheer teaching hospital in Mosul City, Iraq, during 2005, were used in this study. Fifty-four healthy subjects served as a control group. Patients were allocated in a non-randomized prospective cross-sectional hospital study. Essential elements levels were estimated. The mean, standard deviation, correction coefficient and z-test were used. P-values < 0.05 were considered statistically significant. Low serum Zinc, Magnesium, high serum copper and potassium levels were found among the 105 thalassemic patients compared to the 54 controls. Levels of calcium, phosphate and sodium were within normal limits. Fluctuations in the essential elements levels seem to be related to the different complications associated with the disease. Zinc deficiency may be attributed to hyperzincuria resulted from the release of Zn from hemolyzed red cells. Hypercupremia occurs in acute and chronic infections and hemochromatosis, which is a principal complication of thalassemia. Increased Na levels may be due to renal damage. Hypomagnesemia may occur due to hypoparathyroidism. (author)

  18. Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population.

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    Babameto-Laku, A; Mitre, A; Berisha, S; Mokini, V; Roko, D

    2011-06-01

    β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal alleles that are present in the Albanian population by using the temporal temperature gradient electrophoresis (TTGE) method because of its high throughput, cost-effectiveness, sensitivity and simplicity. DNA from blood of 68 patients with β-thal, 26 with sickle cell anemia or sickle cell β-thal, 54 parents of these patients and 14 heterozygotes related to these families. We found the IVS-I-110 (G>A), codon 39 (C>T), IVS-I-6 (T>C), IVS-I-1 (G>A) and codon 44 (-C) mutations that accounted for nearly 90% of the β-thal alleles. Their frequencies were similar to those found in other studies in the Albanian population. This method has permitted the detection of heterozygotes for β-thal in this population and offers a prenatal diagnosis with a probability of 90% accuracy. PMID:24052702

  19. A comparative study of partial vs total splenectomy in thalassemia major patients

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    Bahador Ali

    2007-01-01

    Full Text Available Background : In this study, we show the advantages of partial splenectomy (PS over total splenectomy (TS regarding the chances of overwhelming postsplenectomy sepsis (OPSI. Materials and Methods: From February 1991 to December 1999, 143 cases of β-thalassemia underwent PS. 1/3, 1/4 of the splenic tissue was preserved. One hundred and ten cases were followed for an average of 5 years. None of the patients received vaccination or prophylactic antibiotics. Pre- and postoperative hematological profiles, IgM levels, recurrence of hypersplenism and septic episodes were compared among the data of 60 cases TS; all these cases have been operated in the same hospital. Results: Hematological profile significantly increased and transfusion requirement approximately reduced to three-fold. After 3 years, 22.7% in PS and 13.3% in TS groups required the same amount of preoperative transfusion. After 5 years, these percentages were 27.3 and 18.3%, respectively. Two patients in PS and six in TS group developed signs of sepsis. Conclusion : Vaccination or prophylactic antibiotics are not necessary after PS. The risk of sepsis in PS without antibiotics is less than that in TS with antibiotics, and resplenectomy after PS is not associated with serious complications.

  20. Prevalence of Endocrinopathies in Turkish Children With β-Thalassemia Major: A Single-Center Study.

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    Altincik, Ayça; Akin, Mehmet

    2016-07-01

    Present chelation protocols have increased the life quality and survival of the patients with β-thalassemia major (BTM). However, endocrine complications are still mostly experienced. The aim of this study was to determine the prevalence of endocrine complications in children with BTM, and to study the relationship between serum ferritin levels and complications. Forty-five children (female: 23/male: 22, mean age: 12.39±3.72 y) with BTM were enrolled into the study. Blood samples were taken after an overnight fasting, early in the morning from entire study group. Median (range) serum ferritin of the patients was 1365 ng/mL (362 to 5996 ng/mL). The most prevalent endocrine complications were vitamin D insufficiency (54.5%), short stature (42%), pubertal impairment (25% for each sex), and osteopenia (13%), respectively. Ferritin levels were not correlated with anthropometric or laboratory data. Monitoring of growth, vitamin D status, and endocrine functions are essential to achieve a good quality of life in BTM patients. PMID:27164531