Mouse models of Fanconi anemia

Energy Technology Data Exchange (ETDEWEB)

Parmar, Kalindi; D' Andrea, Alan [Department of Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115 (United States); Niedernhofer, Laura J., E-mail: niedernhoferl@upmc.edu [Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine and Cancer Institute, 5117 Centre Avenue, Hillman Cancer Center, Research Pavilion 2.6, Pittsburgh, PA 15213-1863 (United States)

2009-07-31

Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas. The disease is caused by mutation in genes encoding proteins required for the Fanconi anemia pathway, a response mechanism to replicative stress, including that caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia pathway lead to genomic instability and apoptosis of proliferating cells. To date, 13 complementation groups of Fanconi anemia were identified. Five of these genes have been deleted or mutated in the mouse, as well as a sixth key regulatory gene, to create mouse models of Fanconi anemia. This review summarizes the phenotype of each of the Fanconi anemia mouse models and highlights how genetic and interventional studies using the strains have yielded novel insight into therapeutic strategies for Fanconi anemia and into how the Fanconi anemia pathway protects against genomic instability.

Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.

Science.gov (United States)

Ravera, Silvia; Vaccaro, Daniele; Cuccarolo, Paola; Columbaro, Marta; Capanni, Cristina; Bartolucci, Martina; Panfoli, Isabella; Morelli, Alessandro; Dufour, Carlo; Cappelli, Enrico; Degan, Paolo

2013-10-01

Fanconi anemia (FA) is a rare and complex inherited blood disorder of the child. At least 15 genes are associated with the disease. The highest frequency of mutations belongs to groups A, C and G. Genetic instability and cytokine hypersensitivity support the selection of leukemic over non-leukemic stem cells. FA cellular phenotype is characterized by alterations in red-ox state, mitochondrial functionality and energy metabolism as reported in the past however a clear picture of the altered biochemical phenotype in FA is still elusive and the final biochemical defect(s) still unknown. Here we report an analysis of the respiratory fluxes in FANCA primary fibroblasts, lymphocytes and lymphoblasts. FANCA mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio. Respiration in FANCC mutants is normal. Treatment with N-acetyl-cysteine (NAC) restores oxygen consumption to normal level. Defective respiration in FANCA mutants appear correlated with the FA pro-oxidative phenotype which is consistent with the altered morphology of FANCA mitochondria. Electron microscopy measures indeed show profound alterations in mitochondrial ultrastructure and shape. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Cloning and analysis of the mouse Fanconi anemia group a cDNA and an overlapping penta zinc finger cDNA

NARCIS (Netherlands)

Wong, JCY; Alon, N; Norga, K; Kruyt, FAE; Youssoufian, H; Buchwald, M

2000-01-01

Despite the cloning of four disease-associated genes for Fanconi anemia (FA), the molecular pathogenesis of FA remains largely unknown. To study FA complementation group A using the mouse as a mode I system, we cloned and characterized the mouse homolog of the human FANCA cDNA, The mouse cDNA

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Science.gov (United States)

Bouchlaka, Chiraz; Abdelhak, Sonia; Amouri, Ahlem; Ben Abid, Hela; Hadiji, Sondes; Frikha, Mounir; Ben Othman, Tarek; Amri, Fethi; Ayadi, Hammadi; Hachicha, Mongia; Rebaï, Ahmed; Saad, Ali; Dellagi, Koussay

2003-01-01

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight distinct complementation groups of FA (A, B, C, D1, D2, E, F, and G) having been defined by somatic cell fusion studies. Six genes (FANCA, FANCC, FANCD2, FANCE, FANCG, and FANCF) have been cloned. Mutations of the seventh Fanconi anemia gene, BRCA2, have been shown to lead to FAD1 and probably FAB groups. In order to characterize the molecular defects underlying FA in Tunisia, 39 families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping assigned 43 patients belonging to 34 families to the FAA group, whereas one family was probably not linked to the FANCA gene or to any known FA genes. For patients belonging to the FAA group, screening for mutations revealed four novel mutations: two small homozygous deletions 1693delT and 1751-1754del, which occurred in exon 17 and exon 19, respectively, and two transitions, viz., 513G-->A in exon 5 and A-->G at position 166 (IVS24+166A-->G) of intron 24. Two new polymorphisms were also identified in intron 24 (IVS24-5G/A and IVS24-6C/G).

Cytokine overproduction and crosslinker hypersensitivity are unlinked in Fanconi anemia macrophages.

Science.gov (United States)

Garbati, Michael R; Hays, Laura E; Rathbun, R Keaney; Jillette, Nathaniel; Chin, Kathy; Al-Dhalimy, Muhsen; Agarwal, Anupriya; Newell, Amy E Hanlon; Olson, Susan B; Bagby, Grover C

2016-03-01

The Fanconi anemia proteins participate in a canonical pathway that repairs cross-linking agent-induced DNA damage. Cells with inactivated Fanconi anemia genes are universally hypersensitive to such agents. Fanconi anemia-deficient hematopoietic stem cells are also hypersensitive to inflammatory cytokines, and, as importantly, Fanconi anemia macrophages overproduce such cytokines in response to TLR4 and TLR7/8 agonists. We questioned whether TLR-induced DNA damage is the primary cause of aberrantly regulated cytokine production in Fanconi anemia macrophages by quantifying TLR agonist-induced TNF-α production, DNA strand breaks, crosslinker-induced chromosomal breakage, and Fanconi anemia core complex function in Fanconi anemia complementation group C-deficient human and murine macrophages. Although both M1 and M2 polarized Fanconi anemia cells were predictably hypersensitive to mitomycin C, only M1 macrophages overproduced TNF-α in response to TLR-activating signals. DNA damaging agents alone did not induce TNF-α production in the absence of TLR agonists in wild-type or Fanconi anemia macrophages, and mitomycin C did not enhance TLR responses in either normal or Fanconi anemia cells. TLR4 and TLR7/8 activation induced cytokine overproduction in Fanconi anemia macrophages. Also, although TLR4 activation was associated with induced double strand breaks, TLR7/8 activation was not. That DNA strand breaks and chromosome breaks are neither necessary nor sufficient to account for the overproduction of inflammatory cytokines by Fanconi anemia cells suggests that noncanonical anti-inflammatory functions of Fanconi anemia complementation group C contribute to the aberrant macrophage phenotype and suggests that suppression of macrophage/TLR hyperreactivity might prevent cytokine-induced stem cell attrition in Fanconi anemia. © Society for Leukocyte Biology.

Update of the human and mouse Fanconi anemia genes

OpenAIRE

Dong, Hongbin; Nebert, Daniel W.; Bruford, Elspeth A.; Thompson, David C.; Joenje, Hans; Vasiliou, Vasilis

2015-01-01

Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90?years, only in the last 20?years have increasing numbers of genes been implicated in the pathogenesis associated with this genetic disease. To date, 19 genes have been identified that encode Fanconi anemia complementation group proteins, all of which are named or aliased, using the root symbol ?FANC.?...

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

NARCIS (Netherlands)

de Vries, Yne; Lwiwski, Nikki; Levitus, Marieke; Kuyt, Bertus; Israels, Sara J.; Arwert, Fré; Zwaan, Michel; Greenberg, Cheryl R.; Alter, Blanche P.; Joenje, Hans; Meijers-Heijboer, Hanne

2012-01-01

Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and the associated genes

Fanconi Anemia Proteins FANCA, FANCC, and FANCG/XRCC9 Interact in a Functional Nuclear Complex

OpenAIRE

Garcia-Higuera, Irene; Kuang, Yanan; Näf, Dieter; Wasik, Jennifer; D’Andrea, Alan D.

1999-01-01

Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A to H). Three FA genes, corresponding to complementation groups A, C, and G, have been cloned, but their cellular function remains unknown. We have previously demonstrated that the FANCA and FANCC proteins interact and form a nuclear complex in normal cells, suggesting that the proteins cooperate in a nuclear function. In this report, we demonstrate that the recently clone...

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Science.gov (United States)

Zheng, Zhaojing; Geng, Juan; Yao, Ru-En; Li, Caihua; Ying, Daming; Shen, Yongnian; Ying, Lei; Yu, Yongguo; Fu, Qihua

2013-11-10

Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified that are involved in the pathogenesis of Fanconi anemia. However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia. In the current study, whole exome sequencing was used to identify the affected gene(s) in a boy with Fanconi anemia. A recurring, non-synonymous mutation was found (c.3971C>T, p.P1324L) as well as a novel frameshift mutation (c.989_995del, p.H330LfsX2) in FANCA gene. Our results indicate that whole exome sequencing may be useful in clinical settings for rapid identification of disease-causing mutations in rare genetic disorders such as Fanconi anemia. © 2013 Elsevier B.V. All rights reserved.

Defective homing is associated with altered Cdc42 activity in cells from patients with Fanconi anemia group A

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Zhang, Xiaoling; Shang, Xun; Guo, Fukun; Murphy, Kim; Kirby, Michelle; Kelly, Patrick; Reeves, Lilith; Smith, Franklin O.; Williams, David A.

2008-01-01

Previous studies showed that Fanconi anemia (FA) murine stem cells have defective reconstitution after bone marrow (BM) transplantation. The mechanism underlying this defect is not known. Here, we report defective homing of FA patient BM progenitors transplanted into mouse models. Using cells from patients carrying mutations in FA complementation group A (FA-A), we show that when transplanted into nonobese diabetic/severe combined immunodeficiency (NOD/SCID) recipient mice, FA-A BM cells exhibited impaired homing activity. FA-A cells also showed defects in both cell-cell and cell-matrix adhesion. Complementation of FA-A deficiency by reexpression of FANCA readily restored adhesion of FA-A cells. A significant decrease in the activity of the Rho GTPase Cdc42 was found associated with these defective functions in patient-derived cells, and expression of a constitutively active Cdc42 mutant was able to rescue the adhesion defect of FA-A cells. These results provide the first evidence that FA proteins influence human BM progenitor homing and adhesion via the small GTPase Cdc42-regulated signaling pathway. PMID:18565850

Mice with a targeted disruption of the Fanconi anemia homolog Fanca.

Science.gov (United States)

Cheng, N C; van de Vrugt, H J; van der Valk, M A; Oostra, A B; Krimpenfort, P; de Vries, Y; Joenje, H; Berns, A; Arwert, F

2000-07-22

Fanconi anemia (FA) is a hereditary chromosomal instability syndrome with cancer predisposition. Bone marrow failure resulting in pancytopenia is the main cause of death of FA patients. Diagnosis of FA is based on their cellular hypersensitivity to DNA crosslinking agents and chromosome breakages. Somatic complementation experiments suggest the involvement of at least eight genes in FA. The gene for complementation group A (FANCA) is defective in the majority of FA patients. We show here that mice deficient of FANCA: are viable and have no detectable developmental abnormalities. The hematological parameters showed a slightly decreased platelet count and a slightly increased erythrocyte mean cell volume in mice at young age, but this did not progress to anemia. Consistent with the clinical phenotype of FA patients, both male and female mice showed hypogonadism and impaired fertility. Furthermore, embryonic fibroblasts of the knock-out mice exhibited spontaneous chromosomal instability and were hyper-responsive to the clastogenic effect of the crosslinker mitomycin C.

Constitutive role of the Fanconi anemia D2 gene in the replication stress response.

Science.gov (United States)

Tian, Yanyan; Shen, Xi; Wang, Rui; Klages-Mundt, Naeh L; Lynn, Erica J; Martin, Sara K; Ye, Yin; Gao, Min; Chen, Junjie; Schlacher, Katharina; Li, Lei

2017-12-08

In response to DNA cross-linking damage, the Fanconi anemia (FA) core complex activates the FA pathway by monoubiquitinating Fanconi anemia complementation group D2 (FANCD2) for the initiation of the nucleolytic processing of the DNA cross-links and stabilization of stalled replication forks. Given that all the classic FA proteins coordinately monoubiquitinate FANCD2, it is unclear why losses of individual classic FA genes yield varying cellular sensitivities to cross-linking damage. To address this question, we generated cellular knock-out models of FA core complex components and FANCD2 and found that FANCD2-null mutants display higher levels of spontaneous chromosomal damage and hypersensitivity to replication-blocking lesions than Fanconi anemia complementation group L (FANCL)-null mutants, suggesting that FANCD2 provides a basal level of DNA protection countering endogenous lesions in the absence of monoubiquitination. FANCD2's ubiquitination-independent function is likely involved in optimized recruitment of nucleolytic activities for the processing and protection of stressed replication forks. Our results reveal that FANCD2 has a ubiquitination-independent role in countering endogenous levels of replication stress, a function that is critical for the maintenance of genomic stability. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

NCBI nr-aa BLAST: CBRC-TGUT-29-0009 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-TGUT-29-0009 ref|NP_068741.1| Fanconi anemia, complementation group E [Homo sa...piens] sp|Q9HB96|FANCE_HUMAN Fanconi anemia group E protein (Protein FACE) gb|AAG16743.1|AF265210_1 fanconi anemia... protein E [Homo sapiens] gb|AAH46359.1| Fanconi anemia, complementation group E [Homo sapiens] emb|CAD92504.1| Fanconi anemia..., complementation group E [Homo sapiens] gb|AAY26395.1| Fanconi anemia..., complementation group E [Homo sapiens] gb|EAX03830.1| Fanconi anemia, complementation group E

Virulence of Group A Streptococci Is Enhanced by Human Complement Inhibitors

DEFF Research Database (Denmark)

Ermert, David; Shaughnessy, Jutamas; Joeris, Thorsten

2015-01-01

Streptococcus pyogenes, also known as Group A Streptococcus (GAS), is an important human bacterial pathogen that can cause invasive infections. Once it colonizes its exclusively human host, GAS needs to surmount numerous innate immune defense mechanisms, including opsonization by complement and c...... in studies of GAS pathogenesis and for developing vaccines and therapeutics that rely on human complement activation for efficacy.......Streptococcus pyogenes, also known as Group A Streptococcus (GAS), is an important human bacterial pathogen that can cause invasive infections. Once it colonizes its exclusively human host, GAS needs to surmount numerous innate immune defense mechanisms, including opsonization by complement...... and consequent phagocytosis. Several strains of GAS bind to human-specific complement inhibitors, C4b-binding protein (C4BP) and/or Factor H (FH), to curtail complement C3 (a critical opsonin) deposition. This results in diminished activation of phagocytes and clearance of GAS that may lead to the host being...

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13

NARCIS (Netherlands)

Shimozawa, N.; Suzuki, Y.; Zhang, Z.; Imamura, A.; Tsukamoto, T.; Osumi, T.; Tateishi, K.; Okumoto, K.; Fujiki, Y.; Orii, T.; Barth, P. G.; Wanders, R. J.; Kondo, N.

1998-01-01

Ten complementation groups of generalized peroxisome biogenesis disorders (PBD), (excluding rhizomelic chondrodysplasia punctata) have been identified using complementation analysis. Four of the genes involved have been identified using two different methods of (1) genetic functional complementation

Update of the human and mouse Fanconi anemia genes.

Science.gov (United States)

Dong, Hongbin; Nebert, Daniel W; Bruford, Elspeth A; Thompson, David C; Joenje, Hans; Vasiliou, Vasilis

2015-11-24

Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in the last 20 years have increasing numbers of genes been implicated in the pathogenesis associated with this genetic disease. To date, 19 genes have been identified that encode Fanconi anemia complementation group proteins, all of which are named or aliased, using the root symbol "FANC." Fanconi anemia subtype (FANC) proteins function in a common DNA repair pathway called "the FA pathway," which is essential for maintaining genomic integrity. The various FANC mutant proteins contribute to distinct steps associated with FA pathogenesis. Herein, we provide a review update of the 19 human FANC and their mouse orthologs, an evolutionary perspective on the FANC genes, and the functional significance of the FA DNA repair pathway in association with clinical disorders. This is an example of a set of genes--known to exist in vertebrates, invertebrates, plants, and yeast--that are grouped together on the basis of shared biochemical and physiological functions, rather than evolutionary phylogeny, and have been named on this basis by the HUGO Gene Nomenclature Committee (HGNC).

Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair.

Science.gov (United States)

Leung, Justin Wai Chung; Wang, Yucai; Fong, Ka Wing; Huen, Michael Shing Yan; Li, Lei; Chen, Junjie

2012-03-20

The Fanconi anemia (FA) pathway participates in interstrand cross-link (ICL) repair and the maintenance of genomic stability. The FA core complex consists of eight FA proteins and two Fanconi anemia-associated proteins (FAAP24 and FAAP100). The FA core complex has ubiquitin ligase activity responsible for monoubiquitination of the FANCI-FANCD2 (ID) complex, which in turn initiates a cascade of biochemical events that allow processing and removal of cross-linked DNA and thereby promotes cell survival following DNA damage. Here, we report the identification of a unique component of the FA core complex, namely, FAAP20, which contains a RAD18-like ubiquitin-binding zinc-finger domain. Our data suggest that FAAP20 promotes the functional integrity of the FA core complex via its direct interaction with the FA gene product, FANCA. Indeed, somatic knockout cells devoid of FAAP20 displayed the hallmarks of FA cells, including hypersensitivity to DNA cross-linking agents, chromosome aberrations, and reduced FANCD2 monoubiquitination. Taking these data together, our study indicates that FAAP20 is an important player involved in the FA pathway.

Fanconi anemia links reactive oxygen species to insulin resistance and obesity.

Science.gov (United States)

Li, Jie; Sipple, Jared; Maynard, Suzette; Mehta, Parinda A; Rose, Susan R; Davies, Stella M; Pang, Qishen

2012-10-15

Insulin resistance is a hallmark of obesity and type 2 diabetes. Reactive oxygen species (ROS) have been proposed to play a causal role in insulin resistance. However, evidence linking ROS to insulin resistance in disease settings has been scant. Since both oxidative stress and diabetes have been observed in patients with the Fanconi anemia (FA), we sought to investigate the link between ROS and insulin resistance in this unique disease model. Mice deficient for the Fanconi anemia complementation group A (Fanca) or Fanconi anemia complementation group C (Fancc) gene seem to be diabetes-prone, as manifested by significant hyperglycemia and hyperinsulinemia, and rapid weight gain when fed with a high-fat diet. These phenotypic features of insulin resistance are characterized by two critical events in insulin signaling: a reduction in tyrosine phosphorylation of the insulin receptor (IR) and an increase in inhibitory serine phosphorylation of the IR substrate-1 in the liver, muscle, and fat tissues from the insulin-challenged FA mice. High levels of ROS, spontaneously accumulated or generated by tumor necrosis factor alpha in these insulin-sensitive tissues of FA mice, were shown to underlie the FA insulin resistance. Treatment of FA mice with the natural anti-oxidant Quercetin restores IR signaling and ameliorates the diabetes- and obesity-prone phenotypes. Finally, pairwise screen identifies protein-tyrosine phosphatase (PTP)-α and stress kinase double-stranded RNA-dependent protein kinase (PKR) that mediate the ROS effect on FA insulin resistance. These findings establish a pathogenic and mechanistic link between ROS and insulin resistance in a unique human disease setting. ROS accumulation contributes to the insulin resistance in FA deficiency by targeting both PTP-α and PKR.

Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis

OpenAIRE

Groß, Michaela

2003-01-01

Fanconi anemia (FA) is a genetically and phenotypically heterogenous autoso- mal recessive disease associated with chromosomal instability, progressive bone marrow failure, typical birth defects and predisposition to neoplasia. The clinical phenotype is similar in all known complementation groups (FA-A, FA-B, FA-C,FA-D1, FA-D2, FA-E, FA-F and FA-G). The cellular phenotype is characterized by hypersensitivity to DNA crosslinking agents (MMC,DEB), which is exploited as a diagnostic tool. Alltog...

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

Directory of Open Access Journals (Sweden)

Yne de Vries

2012-01-01

Full Text Available Fanconi anemia (FA is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and the associated genes have been identified. Founder mutations have been found in different FA genes in several populations. The majority of Dutch FA patients belongs to complementation group FA-C. Here, we report 15 patients of Dutch ancestry and a large Canadian Manitoba Mennonite kindred carrying the FANCC c.67delG mutation. Genealogical investigation into the ancestors of the Dutch patients shows that these ancestors lived in four distinct areas in The Netherlands. We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.

Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair

Science.gov (United States)

Leung, Justin Wai Chung; Wang, Yucai; Fong, Ka Wing; Huen, Michael Shing Yan; Li, Lei; Chen, Junjie

2012-01-01

The Fanconi anemia (FA) pathway participates in interstrand cross-link (ICL) repair and the maintenance of genomic stability. The FA core complex consists of eight FA proteins and two Fanconi anemia-associated proteins (FAAP24 and FAAP100). The FA core complex has ubiquitin ligase activity responsible for monoubiquitination of the FANCI-FANCD2 (ID) complex, which in turn initiates a cascade of biochemical events that allow processing and removal of cross-linked DNA and thereby promotes cell survival following DNA damage. Here, we report the identification of a unique component of the FA core complex, namely, FAAP20, which contains a RAD18-like ubiquitin-binding zinc-finger domain. Our data suggest that FAAP20 promotes the functional integrity of the FA core complex via its direct interaction with the FA gene product, FANCA. Indeed, somatic knockout cells devoid of FAAP20 displayed the hallmarks of FA cells, including hypersensitivity to DNA cross-linking agents, chromosome aberrations, and reduced FANCD2 monoubiquitination. Taking these data together, our study indicates that FAAP20 is an important player involved in the FA pathway. PMID:22396592

Preferential repair of nuclear matrix associated DNA in xeroderma pigmentosum complementation group C

International Nuclear Information System (INIS)

Mullenders, L.H.F.; Kesteren, A.C. van; Bussmann, C.J.M.; Zeeland, A.A. van; Natarajan, A.T.

1984-01-01

The distribution of ultraviolet-induced DNA repair patches in the genome of xeroderma pigmentosum cells of complementation group C was investigated by determining the molecular weight distribution of repair labeled DNA and prelabeled DNA in alkaline sucrose gradients after treatment with the dimer-specific endonuclease V of bacteriophage T 4 . The results suggest that DNA-repair synthesis in xeroderma pigmentosum cells of complementation group C occurs in localized regions of the genome. Analysis of the spatial distribution of ultraviolet-induced repair patches in DNA loops attached to the nuclear matrix revealed that in xeroderma pigmentosum cells of complementation group C repair patches are preferentially situated near the attachment sites of DNA loops at the nuclear matrix. In normal human fibroblasts the authors observed no enrichment of repair-labeled DNA at the nuclear matrix and repair patches appeared to be distributed randomly along the DNA loops. The enrichment of repair-labeled DNA at the nuclear matrix in xeroderma pigmentosum cells of complementation group C may indicate that the residual DNA-repair synthesis in these cells occurs preferentially in regions of the genome. (Auth.)

Diagnosis and treatment of iron deficiency anemia during pregnancy and the postpartum period: Iron deficiency anemia working group consensus report

Science.gov (United States)

Api, Olus; Breyman, Christian; Çetiner, Mustafa; Demir, Cansun; Ecder, Tevfik

2015-01-01

According to the World Health Organization (WHO), anemia is the most common disease, affecting >1.5 billion people worldwide. Furthermore, iron deficiency anemia (IDA) accounts for 50% of cases of anemia. IDA is common during pregnancy and the postpartum period, and can lead to serious maternal and fetal complications. The aim of this report was to present the experiences of a multidisciplinary expert group, and to establish reference guidelines for the optimal diagnosis and treatment of IDA during pregnancy and the postpartum period. Studies and guidelines on the diagnosis and treatment of IDA published in Turkish and international journals were reviewed. Conclusive recommendations were made by an expert panel aiming for a scientific consensus. Measurement of serum ferritin has the highest sensitivity and specificity for diagnosis of IDA unless there is a concurrent inflammatory condition. The lower threshold value for hemoglobin (Hb) in pregnant women is anemia. Oral iron therapy is given as the first-line treatment for IDA. Although current data are limited, intravenous (IV) iron therapy is an alternative therapeutic option in patients who do not respond to oral iron therapy, have adverse reactions, do not comply with oral iron treatment, have a very low Hb concentration, and require rapid iron repletion. IV iron preparations can be safely used for the treatment of IDA during pregnancy and the postpartum period, and are more beneficial than oral iron preparations in specific indications. PMID:28913064

The Prevalence of Anemia and Moderate-Severe Anemia in the US Population (NHANES 2003-2012)

Science.gov (United States)

2016-01-01

Since anemia is associated with poor health outcomes, the prevalence of anemia is a significant public health indicator. Even though anemia is primarily caused by iron deficiency, low oxygen-carrying capacity may result from other conditions such as chronic diseases, which remain a relevant health concern in the United States. However, studies examining current rates of anemia in the total US population and in more specific subgroups are limited. Data from five National Health and Nutrition Examination Surveys (NHANES) from 2003 to 2012 were analyzed to assess two outcomes: anemia and moderate-severe anemia, which were based upon serum hemoglobin levels (Hb) as per World Health Organization (WHO) definitions. Statistical analysis using SAS examined temporal trends and the prevalence of anemia among sexes, age groups, and races/ethnicities. The study estimated that an average of 5.6% of the U.S. population met the criteria for anemia and 1.5% for moderate-severe anemia during this 10-year period. High-risk groups such as pregnant women, elderly persons, women of reproductive age, non-Hispanic blacks, and Hispanics were identified, and relationships between multiple risk factors were examined. Rates of anemia in men increased monotonically with age, while that of women increased bimodally with peaks in age group 40–49 years and 80–85 years. The effect of risk factors was observed to compound. For instance, the prevalence of anemia in black women aged 80–85 years was 35.6%, 6.4 times higher than the population average. Moreover, anemia is a growing problem because of the increased prevalence of anemia (4.0% to 7.1%) and moderate-severe anemia (1.0% to 1.9%), which nearly doubled from 2003–2004 to 2011–2012. Thus, these results augment the current knowledge on anemia prevalence, severity, and distribution among subgroups in the US and raised anemia as an issue that requires urgent public health intervention. PMID:27846276

Predictors of anemia in preschool children: Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project

Science.gov (United States)

Aaron, Grant J; Huang, Jin; Varadhan, Ravi; Temple, Victor; Rayco-Solon, Pura; Macdonald, Barbara

2017-01-01

Background: A lack of information on the etiology of anemia has hampered the design and monitoring of anemia-control efforts. Objective: We aimed to evaluate predictors of anemia in preschool children (PSC) (age range: 6–59 mo) by country and infection-burden category. Design: Cross-sectional data from 16 surveys (n = 29,293) from the Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project were analyzed separately and pooled by category of infection burden. We assessed relations between anemia (hemoglobin concentration anemia (hemoglobin concentration anemia with concomitant iron deficiency (defined as an inflammation-adjusted ferritin concentration anemia in >50% of surveys. Associations between breastfeeding and anemia were attenuated by controlling for child age, which was negatively associated with anemia. The most consistent predictors of severe anemia were malaria, poor sanitation, and underweight. In multivariable pooled models, child age, iron deficiency, and stunting independently predicted anemia and severe anemia. Inflammation was generally associated with anemia in the high- and very high–infection groups but not in the low- and medium-infection groups. In PSC with anemia, 50%, 30%, 55%, and 58% of children had concomitant iron deficiency in low-, medium-, high-, and very high–infection categories, respectively. Conclusions: Although causal inference is limited by cross-sectional survey data, results suggest anemia-control programs should address both iron deficiency and infections. The relative importance of factors that are associated with anemia varies by setting, and thus, country-specific data are needed to guide programs. PMID:28615260

Diagnosis and treatment of iron deficiency anemia during pregnancy and the postpartum period: Iron deficiency anemia working group consensus report

Directory of Open Access Journals (Sweden)

Christian Breyman

2015-09-01

Full Text Available According to the World Health Organization (WHO, anemia is the most common disease, affecting >1.5 billion people worldwide. Furthermore, iron deficiency anemia (IDA accounts for 50% of cases of anemia. IDA is common during pregnancy and the postpartum period, and can lead to serious maternal and fetal complications. The aim of this report was to present the experiences of a multidisciplinary expert group, and to establish reference guidelines for the optimal diagnosis and treatment of IDA during pregnancy and the postpartum period. Studies and guidelines on the diagnosis and treatment of IDA published in Turkish and international journals were reviewed. Conclusive recommendations were made by an expert panel aiming for a scientific consensus. Measurement of serum ferritin has the highest sensitivity and specificity for diagnosis of IDA unless there is a concurrent inflammatory condition. The lower threshold value for hemoglobin (Hb in pregnant women is <11 g/dL during the 1st and 3rd trimesters, and <10.5 g/dL during the 2nd trimester. In postpartum period a Hb concentration <10 g/dL indicates clinically significant anemia. Oral iron therapy is given as the first-line treatment for IDA. Although current data are limited, intravenous (IV iron therapy is an alternative therapeutic option in patients who do not respond to oral iron therapy, have adverse reactions, do not comply with oral iron treatment, have a very low Hb concentration, and require rapid iron repletion. IV iron preparations can be safely used for the treatment of IDA during pregnancy and the postpartum period, and are more beneficial than oral iron preparations in specific indications.

Cloning and analysis of the mouse Fanconi anemia group A cDNA and an overlapping penta zinc finger cDNA.

Science.gov (United States)

Wong, J C; Alon, N; Norga, K; Kruyt, F A; Youssoufian, H; Buchwald, M

2000-08-01

Despite the cloning of four disease-associated genes for Fanconi anemia (FA), the molecular pathogenesis of FA remains largely unknown. To study FA complementation group A using the mouse as a model system, we cloned and characterized the mouse homolog of the human FANCA cDNA. The mouse cDNA (Fanca) encodes a 161-kDa protein that shares 65% amino acid sequence identity with human FANCA. Fanca is located at the distal region of mouse chromosome 8 and has a ubiquitous pattern of expression in embryonic and adult tissues. Expression of the mouse cDNA in human FA-A cells restores the cellular drug sensitivity to normal levels. Thus, the expression pattern, protein structure, chromosomal location, and function of FANCA are conserved in the mouse. We also isolated a novel zinc finger protein, Zfp276, which has five C(2)H(2) domains. Interestingly, Zfp276 is situated in the Fanca locus, and the 3'UTR of its cDNA overlaps with the last four exons of Fanca in a tail-to-tail manner. Zfp276 is expressed in the same tissues as Fanca, but does not complement the mitomycin C (MMC)-sensitive phenotype of FA-A cells. The overlapping genomic organization between Zfp276 and Fanca may have relevance to the disease phenotype of FA. Copyright 2000 Academic Press.

Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.

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Qiao, F; Moss, A; Kupfer, G M

2001-06-29

Fanconi anemia (FA) is a genetic disease characterized by congenital defects, bone marrow failure, and cancer susceptibility. Cells from patients with FA exhibit genomic instability and hypersensitivity to DNA cross linking agents such as mitomycin C. Despite the identification of seven complementation groups and the cloning of six genes, the function of the encoded gene products remains elusive. The FancA (Fanconi anemia complementation group A), FancC, and FancG proteins have been detected within a nuclear complex, but no change in level, binding, or localization has been reported as a result of drug treatment or cell cycle. We show that in immunofluorescence studies, FancA appears as a non-nucleolar nuclear protein that is excluded from condensed, mitotic chromosomes. Biochemical fractionation reveals that the FA proteins are found in nuclear matrix and chromatin and that treatment with mitomycin C results in increase of the FA proteins in nuclear matrix and chromatin fractions. This induction occurs in wild-type cells and mutant FA-D (Fanconi complementation group D) cells but not in mutant FA-A cells. Immunoprecipitation of FancA protein in chromatin demonstrates the coprecipitation of FancA, FancC, and FancG, showing that the FA proteins move together as a complex. Also, fractionation of mitotic cells confirms the lack of FA proteins in chromatin or the nuclear matrix. Furthermore, phosphorylation of FancG was found to be temporally correlated with exit of the FA complex from chromosomes at mitosis. Taken together, these findings suggest a role for FA proteins in chromatin and nuclear matrix.

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA

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Waisfisz, Quinten; de Winter, Johan P.; Kruyt, Frank A. E.; de Groot, Jan; van der Weel, Laura; Dijkmans, Lonneke M.; Zhi, Yu; Arwert, Fré; Scheper, Rik J.; Youssoufian, Hagop; Hoatlin, Maureen E.; Joenje, Hans

1999-01-01

Fanconi anemia (FA) is a recessively inherited disease characterized at the cellular level by spontaneous chromosomal instability and specific hypersensitivity to cross-linking agents. FA is genetically heterogeneous, comprising at least eight complementation groups (A-H). We report that the protein encoded by the gene mutated in complementation group G (FANCG) localizes to the cytoplasm and nucleus of the cell and assembles in a molecular complex with the FANCA protein, both in vivo and in vitro. Endogenous FANCA/FANCG complex was detected in both non-FA cells and in FA cells from groups D and E. By contrast, no complex was detected in specific cell lines belonging to groups A and G, whereas reduced levels were found in cells from groups B, C, F, and H. Wild-type levels of FANCA/FANCG complex were restored upon correction of the cellular phenotype by transfection or cell fusion experiments, suggesting that this complex is of functional significance in the FA pathway. These results indicate that the cellular FA phenotype can be connected to three biochemical subtypes based on the levels of FANCA/FANCG complex. Disruption of the complex may provide an experimental strategy for chemosensitization of neoplastic cells. PMID:10468606

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

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Levran, Orna; Diotti, Raffaella; Pujara, Kanan; Batish, Sat D; Hanenberg, Helmut; Auerbach, Arleen D

2005-02-01

Fanconi anemia (FA) is an autosomal recessive disorder that is defined by cellular hypersensitivity to DNA cross-linking agents, and is characterized clinically by developmental abnormalities, progressive bone-marrow failure, and predisposition to leukemia and solid tumors. There is extensive genetic heterogeneity, with at least 11 different FA complementation groups. FA-A is the most common group, accounting for approximately 65% of all affected individuals. The mutation spectrum of the FANCA gene, located on chromosome 16q24.3, is highly heterogeneous. Here we summarize all sequence variations (mutations and polymorphisms) in FANCA described in the literature and listed in the Fanconi Anemia Mutation Database as of March 2004, and report 61 novel FANCA mutations identified in FA patients registered in the International Fanconi Anemia Registry (IFAR). Thirty-eight novel SNPs, previously unreported in the literature or in dbSNP, were also identified. We studied the segregation of common FANCA SNPs in FA families to generate haplotypes. We found that FANCA SNP data are highly useful for carrier testing, prenatal diagnosis, and preimplantation genetic diagnosis, particularly when the disease-causing mutations are unknown. Twenty-two large genomic deletions were identified by detection of apparent homozygosity for rare SNPs. In addition, a conserved SNP haplotype block spanning at least 60 kb of the FANCA gene was identified in individuals from various ethnic groups. (c) 2005 Wiley-Liss, Inc.

Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome

DEFF Research Database (Denmark)

Suhasini, Avvaru N; Rawtani, Nina A; Wu, Yuliang

2011-01-01

Bloom's syndrome (BS) and Fanconi anemia (FA) are autosomal recessive disorders characterized by cancer and chromosomal instability. BS and FA group J arise from mutations in the BLM and FANCJ genes, respectively, which encode DNA helicases. In this work, FANCJ and BLM were found to interact...

New patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H

International Nuclear Information System (INIS)

Moshell, A.N.; Ganges, M.B.; Lutzner, M.A.; Coon, H.G.; Barrett, S.F.; Dupuy, J.M.; Robbins, J.H.

1983-01-01

A second patient, XP-CS-2, has been discovered with both xeroderma pigmentosum and Cockayne syndrome. His fibroblasts have 30% of the normal rate of uv-induced unscheduled DNA synthesis. His fibroblasts were fused with those from each of the xeroderma pigmentosum groups A through G. His cells complemented every cell line, since in each case there were obtained multinucleate cells which had a normal amount of uv-induced unscheduled DNA synthesis. Since the XP-CS-2 cells complement all the currently established xeroderma pigmentosum complementation groups, this new XP-CS patient is in a new group which we designate group H. 10 references, 1 figure

From Bad to Worse: Anemia on Admission and Hospital-Acquired Anemia.

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Koch, Colleen G; Li, Liang; Sun, Zhiyuan; Hixson, Eric D; Tang, Anne S; Phillips, Shannon C; Blackstone, Eugene H; Henderson, J Michael

2017-12-01

Anemia at hospitalization is often treated as an accompaniment to an underlying illness, without active investigation, despite its association with morbidity. Development of hospital-acquired anemia (HAA) has also been associated with increased risk for poor outcomes. Together, they may further heighten morbidity risk from bad to worse. The aims of this study were to (1) examine mortality, length of stay, and total charges in patients with present-on-admission (POA) anemia and (2) determine whether these are exacerbated by development of HAA. In this cohort investigation, from January 1, 2009, to August 31, 2011, a total of 44,483 patients with POA anemia were admitted to a single health system compared with a reference group of 48,640 without POA anemia or HAA. Data sources included the University HealthSystem Consortium database and electronic medical records. Risk-adjustment methods included logistic and linear regression models for mortality, length of stay, and total charges. Present-on-admission anemia was defined by administrative coding. Hospital-acquired anemia was determined by changes in hemoglobin values from the electronic medical record. Approximately one-half of the patients experienced worsening of anemia with development of HAA. Risk for death and resource use increased with increasing severity of HAA. Those who developed severe HAA had 2-fold greater odds for death; that is, mild POA anemia with development of severe HAA resulted in greater mortality (odds ratio, 2.57; 95% confidence interval, 2.08-3.18; P < 0.001), increased length of stay (2.23; 2.16-2.31; P < 0.001), and higher charges (2.09; 2.03-2.15; P < 0.001). Present-on-admission anemia is associated with increased mortality and resource use. This risk is further increased from bad to worse when patients develop HAA. Efforts to address POA anemia and HAA deserve attention.

In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor.

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van der Heijden, Michiel S; Brody, Jonathan R; Dezentje, David A; Gallmeier, Eike; Cunningham, Steven C; Swartz, Michael J; DeMarzo, Angelo M; Offerhaus, G Johan A; Isacoff, William H; Hruban, Ralph H; Kern, Scott E

2005-10-15

BRCA2, FANCC, and FANCG gene mutations are present in a subset of pancreatic cancer. Defects in these genes could lead to hypersensitivity to interstrand cross-linkers in vivo and a more optimal treatment of pancreatic cancer patients based on the genetic profile of the tumor. Two retrovirally complemented pancreatic cancer cell lines having defects in the Fanconi anemia pathway, PL11 (FANCC-mutated) and Hs766T (FANCG-mutated), as well as several parental pancreatic cancer cell lines with or without mutations in the Fanconi anemia/BRCA2 pathway, were assayed for in vitro and in vivo sensitivities to various chemotherapeutic agents. A distinct dichotomy of drug responses was observed. Fanconi anemia-defective cancer cells were hypersensitive to the cross-linking agents mitomycin C (MMC), cisplatin, chlorambucil, and melphalan but not to 5-fluorouracil, gemcitabine, doxorubicin, etoposide, vinblastine, or paclitaxel. Hypersensitivity to cross-linking agents was confirmed in vivo; FANCC-deficient xenografts of PL11 and BRCA2-deficient xenografts of CAPAN1 regressed on treatment with two different regimens of MMC whereas Fanconi anemia-proficient xenografts did not. The MMC response comprised cell cycle arrest, apoptosis, and necrosis. Xenografts of PL11 also regressed after a single dose of cyclophosphamide whereas xenografts of genetically complemented PL11(FANCC) did not. MMC or other cross-linking agents as a clinical therapy for pancreatic cancer patients with tumors harboring defects in the Fanconi anemia/BRCA2 pathway should be specifically investigated.

Anemia as a risk factor for childhood asthma

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Ramakrishnan K

2010-01-01

Full Text Available Objective: This prospective-(cohort study was conducted to evaluate whether anemia is a risk factor for childhood asthma. Materials and Methods: Two hundred children in the age group of 2-18 years who attended the Outpatient Department with upper respiratory / lower respiratory tract infections were included in this study. One hundred children with anemia were taken as the study group and another 100, age - and sex-matched children without anemia were taken as the control.They were subjected to complete blood count (CBC C-reactive protein (CRP estimation, Mantoux test and chest X-ray. Pulmonary function tests (PFTs were performed on those above six years showing evidence of asthma. Peripheral smear, serum ferritin and serum iron-binding capacity were estimated for all anemic children. Results: Asthma was present in 74 (74% children in the study group and in 33 (33% children in the control group. Iron-deficiency anemia was present in 85 (85% anemia of chronic infection in 20 (20% and the other five (5% had hemolytic anemia. Anemia was found to be a risk factor for childhood asthma. Conclusion: Anemic children were 5.75 times more susceptible to asthmatic attacks when compared with nonanemic children.

Alpha-fetoprotein and Fanconi Anemia: Relevance to DNA Repair and Breast Cancer Susceptibility.

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Lakhi, Nisha A; Mizejewski, Gerald J

2017-02-01

Elevations of serum alpha-fetoprotein (sAFP) have been reported in fetal and infant states of anemia. Fanconi anemia (FA) belongs to a family of genetic instability disorders which lack the capability to repair DNA breaks. The lesion occurs at a checkpoint regulatory step of the G2 to mitotic transition, allowing FA cells to override cell-cycle arrest. FA DNA repair pathways contain complementation groups known as FANC proteins. FANC proteins form multi-protein complexes with BRCA proteins and are involved in homologous DNA repair. An impaired cascade in these events imparts an increased breast cancer susceptibility to female FA patients. Elevations of sAFP have availed this fetal protein to serve as a biomarker for FA disease. However, the origin of the synthesis of sAFA has not been determined in FA patients. We hypothesize that hematopoietic multipotent progenitor stem cells in the bone marrow are the source of sAFP production in FA patients.

Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting

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Tolar, Jakub; Adair, Jennifer E; Antoniou, Michael; Bartholomae, Cynthia C; Becker, Pamela S; Blazar, Bruce R; Bueren, Juan; Carroll, Thomas; Cavazzana-Calvo, Marina; Clapp, D Wade; Dalgleish, Robert; Galy, Anne; Gaspar, H Bobby; Hanenberg, Helmut; Von Kalle, Christof; Kiem, Hans-Peter; Lindeman, Dirk; Naldini, Luigi; Navarro, Susana; Renella, Raffaele; Rio, Paula; Sevilla, Julián; Schmidt, Manfred; Verhoeyen, Els; Wagner, John E; Williams, David A; Thrasher, Adrian J

2011-01-01

Survival rates after allogeneic hematopoietic cell transplantation (HCT) for Fanconi anemia (FA) have increased dramatically since 2000. However, the use of autologous stem cell gene therapy, whereby the patient's own blood stem cells are modified to express the wild-type gene product, could potentially avoid the early and late complications of allogeneic HCT. Over the last decades, gene therapy has experienced a high degree of optimism interrupted by periods of diminished expectation. Optimism stems from recent examples of successful gene correction in several congenital immunodeficiencies, whereas diminished expectations come from the realization that gene therapy will not be free of side effects. The goal of the 1st International Fanconi Anemia Gene Therapy Working Group Meeting was to determine the optimal strategy for moving stem cell gene therapy into clinical trials for individuals with FA. To this end, key investigators examined vector design, transduction method, criteria for large-scale clinical-grade vector manufacture, hematopoietic cell preparation, and eligibility criteria for FA patients most likely to benefit. The report summarizes the roadmap for the development of gene therapy for FA. PMID:21540837

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

NARCIS (Netherlands)

Shimozawa, Nobuyuki; Tsukamoto, Toshiro; Nagase, Tomoko; Takemoto, Yasuhiko; Koyama, Naoki; Suzuki, Yasuyuki; Komori, Masayuki; Osumi, Takashi; Jeannette, Gootjes; Wanders, Ronald J. A.; Kondo, Naomi

2004-01-01

Peroxisome biogenesis disorders (PBD) are lethal hereditary diseases caused by abnormalities in the biogenesis of peroxisomes. At present, 12 different complementation groups have been identified and to date, all genes responsible for each of these complementation groups have been identified. The

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

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Kimberly A. Rickman

2015-07-01

Full Text Available Fanconi anemia (FA is a rare bone marrow failure and cancer predisposition syndrome resulting from pathogenic mutations in genes encoding proteins participating in the repair of DNA interstrand crosslinks (ICLs. Mutations in 17 genes (FANCA-FANCS have been identified in FA patients, defining 17 complementation groups. Here, we describe an individual presenting with typical FA features who is deficient for the ubiquitin-conjugating enzyme (E2, UBE2T. UBE2T is known to interact with FANCL, the E3 ubiquitin-ligase component of the multiprotein FA core complex, and is necessary for the monoubiquitination of FANCD2 and FANCI. Proband fibroblasts do not display FANCD2 and FANCI monoubiquitination, do not form FANCD2 foci following treatment with mitomycin C, and are hypersensitive to crosslinking agents. These cellular defects are complemented by expression of wild-type UBE2T, demonstrating that deficiency of the protein UBE2T can lead to Fanconi anemia. UBE2T gene gains an alias of FANCT.

A seventh complementation group in excision-deficient xeroderma pigmentosum

International Nuclear Information System (INIS)

Keijzer, W.; Jaspers, N.G.J.; Bootsma, D.; Abrahams, P.J.; Taylor, A.M.R.; Arlett, C.F.; Zelle, B.; Kinmont, P.D.S.

1979-01-01

Cells from a xeroderma pigmentosum patient XP2B1 who has reached 17 years of age with no keratoses or skin tumours constitute a new, 7th complementation group G. These cells exhibit a low residual level of excision repair, 2% of normal after a UV dose of 5 J/m 2 and an impairment of post-replication repair characteristic of excision-defective XPs. They are also sensitive to the lethal effects of UV and defective in host-cell reactivation of UV-irradiated SV40 DNA. (Auth.)

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Science.gov (United States)

Chandrasekharappa, Settara C; Lach, Francis P; Kimble, Danielle C; Kamat, Aparna; Teer, Jamie K; Donovan, Frank X; Flynn, Elizabeth; Sen, Shurjo K; Thongthip, Supawat; Sanborn, Erica; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A

2013-05-30

Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA. Specifically, we used custom molecular inversion probes or TruSeq-enrichment oligos to capture and sequence FA and related genes, including introns, from 27 samples from the International Fanconi Anemia Registry at The Rockefeller University. DNA sequencing was complemented with custom array comparative genomic hybridization (aCGH) and RNA sequencing (RNA-seq) analysis. aCGH identified deletions/duplications in 4 different FA genes. RNA-seq analysis revealed lack of allele specific expression associated with a deletion and splicing defects caused by missense, synonymous, and deep-in-intron variants. The combination of TruSeq-targeted capture, aCGH, and RNA-seq enabled us to identify the complementation group and biallelic germline mutations in all 27 families: FANCA (7), FANCB (3), FANCC (3), FANCD1 (1), FANCD2 (3), FANCF (2), FANCG (2), FANCI (1), FANCJ (2), and FANCL (3). FANCC mutations are often the cause of FA in patients of Ashkenazi Jewish (AJ) ancestry, and we identified 2 novel FANCC mutations in 2 patients of AJ ancestry. We describe here a strategy for efficient molecular diagnosis of FA.

Predictors of anemia in women of reproductive age: Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project.

Science.gov (United States)

Wirth, James P; Woodruff, Bradley A; Engle-Stone, Reina; Namaste, Sorrel Ml; Temple, Victor J; Petry, Nicolai; Macdonald, Barbara; Suchdev, Parminder S; Rohner, Fabian; Aaron, Grant J

2017-07-01

Background: Anemia in women of reproductive age (WRA) (age range: 15-49 y) remains a public health problem globally, and reducing anemia in women by 50% by 2025 is a goal of the World Health Assembly. Objective: We assessed the associations between anemia and multiple proximal risk factors (e.g., iron and vitamin A deficiencies, inflammation, malaria, and body mass index) and distal risk factors (e.g., education status, household sanitation and hygiene, and urban or rural residence) in nonpregnant WRA. Design: Cross-sectional, nationally representative data from 10 surveys ( n = 27,018) from the Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project were analyzed individually and pooled by the infection burden and risk in the country. We examined the severity of anemia and measured the bivariate associations between anemia and factors at the country level and by infection burden, which we classified with the use of the national prevalences of malaria, HIV, schistosomiasis, sanitation, and water-quality indicators. Pooled multivariate logistic regression models were constructed for each infection-burden category to identify independent determinants of anemia (hemoglobin concertation <120 g/L). Results: Anemia prevalence was ∼40% in countries with a high infection burden and 12% and 7% in countries with moderate and low infection burdens, respectively. Iron deficiency was consistently associated with anemia in multivariate models, but the proportion of anemic women who were iron deficient was considerably lower in the high-infection group (35%) than in the moderate- and low-infection groups (65% and 71%, respectively). In the multivariate analysis, inflammation, vitamin A insufficiency, socioeconomic status, and age were also significantly associated with anemia, but malaria and vitamin B-12 and folate deficiencies were not. Conclusions: The contribution of iron deficiency to anemia varies according to a country's infection

Predictors of anemia in women of reproductive age: Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project

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Woodruff, Bradley A; Petry, Nicolai; Macdonald, Barbara; Aaron, Grant J

2017-01-01

Background: Anemia in women of reproductive age (WRA) (age range: 15–49 y) remains a public health problem globally, and reducing anemia in women by 50% by 2025 is a goal of the World Health Assembly. Objective: We assessed the associations between anemia and multiple proximal risk factors (e.g., iron and vitamin A deficiencies, inflammation, malaria, and body mass index) and distal risk factors (e.g., education status, household sanitation and hygiene, and urban or rural residence) in nonpregnant WRA. Design: Cross-sectional, nationally representative data from 10 surveys (n = 27,018) from the Biomarkers Reflecting Inflammation and Nutritional Determinants of Anemia (BRINDA) project were analyzed individually and pooled by the infection burden and risk in the country. We examined the severity of anemia and measured the bivariate associations between anemia and factors at the country level and by infection burden, which we classified with the use of the national prevalences of malaria, HIV, schistosomiasis, sanitation, and water-quality indicators. Pooled multivariate logistic regression models were constructed for each infection-burden category to identify independent determinants of anemia (hemoglobin concertation Anemia prevalence was ∼40% in countries with a high infection burden and 12% and 7% in countries with moderate and low infection burdens, respectively. Iron deficiency was consistently associated with anemia in multivariate models, but the proportion of anemic women who were iron deficient was considerably lower in the high-infection group (35%) than in the moderate- and low-infection groups (65% and 71%, respectively). In the multivariate analysis, inflammation, vitamin A insufficiency, socioeconomic status, and age were also significantly associated with anemia, but malaria and vitamin B-12 and folate deficiencies were not. Conclusions: The contribution of iron deficiency to anemia varies according to a country’s infection burden. Anemia

Correlative study on anemia and radiotherapy effects in nasopharyngeal carcinoma

International Nuclear Information System (INIS)

Chen Jinsheng; Jiang Yuanshi; Cao Xibiao; Zhan Yongzhong; Yang Liye; Chen Jianxiu; Chen Chengwu; Li Yang

2003-01-01

Objective: To study the effect of oxygen-carrying ability of blood efficacy of radiotherapy for patients with nasopharyngeal carcinoma. Methods: Altogether 161 cases of patients with nasopharyngeal carcinoma were classified according to severity of anemia, and Hb, RBC, MCH, HCT, MCV, MCHC and RDW were tested before, during and after radiotherapy. The patients were followed-up for up to 5 years, the relationship and mechanism among anemia, radiotherapy effects and survival rate was discussed. Results: The survival rate between anemia group and non-anemia group was different significantly (P<0.05). Anemia before radiotherapy, anemia appearance or anemia deterioration during radiotherapy were sensitive factors affecting radiotherapy results. The anemia more severe, the radiotherapy worse. Conclusion: Anemia-hypohemoglobinemia leads to decrease of oxygen-carrying capacity of blood, resulting in oxygen deficiency of tumor cells and their radiotherapy resistance. Therefore this method is worthy of further studies

Anemia: An approach to evaluation, 2014

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Philip Kuriakose

2015-01-01

Full Text Available Anemia is very commonly encountered in general clinical practice among all age groups. The more commonly used way to classify anemia has been to categorize it as being microcytic (mean corpuscular volume [MCV] 100 fL, which in turn allows for a more practical way to attempt to come up with a cause for any decrease in hemoglobin. Microcytic anemias are usually due to iron deficiency (in turn, a result of a number of different etiologies ranging from decreased intake, malabsorption, or blood loss, hemoglobinopathies (thalassemic syndromes, and some cases of severe anemia resulting from chronic disease. Normocytic anemia is often a result of anemia of chronic disease, hemolysis, or secondary to bone marrow failure. Macrocytic anemias are frequently caused by deficiencies of folic acid and/or Vitamin B12, exposure to toxic agents like drugs that interfere with DNA metabolism and alcohol, as also bone marrow failure states, such as from myelodysplastic syndrome. A comprehensive history, physical examination, and directed laboratory evaluation will help to identify a specific cause for anemia.

Multivariable Discriminant Analysis for the Differential Diagnosis of Microcytic Anemia

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Eloísa Urrechaga

2013-01-01

Full Text Available Introduction. Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia. Powerful statistical computer programming enables sensitive discriminant analyses to aid in the diagnosis. We aimed at investigating the performance of the multiple discriminant analysis (MDA to the differential diagnosis of microcytic anemia. Methods. The training group was composed of 200 β-thalassemia carriers, 65 α-thalassemia carriers, 170 iron deficiency anemia (IDA, and 45 mixed cases of thalassemia and acute phase response or iron deficiency. A set of potential predictor parameters that could detect differences among groups were selected: Red Blood Cells (RBC, hemoglobin (Hb, mean cell volume (MCV, mean cell hemoglobin (MCH, and RBC distribution width (RDW. The functions obtained with MDA analysis were applied to a set of 628 consecutive patients with microcytic anemia. Results. For classifying patients into two groups (genetic anemia and acquired anemia, only one function was needed; 87.9% β-thalassemia carriers, and 83.3% α-thalassemia carriers, and 72.1% in the mixed group were correctly classified. Conclusion. Linear discriminant functions based on hemogram data can aid in differentiating between IDA and thalassemia, so samples can be efficiently selected for further analysis to confirm the presence of genetic anemia.

NEW METHOD OF PREVENTION OF IRONDEFENSE ANEMIA IN PREGNANT TEENS

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E. S. Mikhaylin

2018-01-01

Full Text Available The paper presents an assessment of the effectiveness of the method proposed by the authors for the prevention of iron deficiency anemia in minor pregnant women. In the first stage, 593 histories of childbirth were retrospectively analyzed (group 1 — minors 13-15 years (n = 49, 2 group — minors 16-17 (n = 434, 3rd group — middle reproductive age (n = 110 . In the second stage, a prospective study of the frequency and structure of anemia of pregnant women was carried out (group 1 — minors aged 13-15 years (n = 17, group 2 — minors 16-17 (n = 127, 3rd group — women of middle reproductive age (n = 110. At the III stage, minor pregnant women were divided into two groups: in 1 (main group (n = 144, iron deficiency anemia was prevented according to the method we proposed; in the 2nd group (comparison group traditional therapy with iron preparations was carried out at the appearance of signs of anemia. The essence of the proposed method is that an minor pregnant woman, without waiting for laboratory signs of anemia, is examined for ferritin in venous blood, and at a value below 35 ng/ml, oral iron preparations are prescribed in conventional preventive doses for a period of 3 months, and if through three months the content of ferritin in the venous blood is again below 35 ng/ml — the intake of iron-containing preparations continues for another 3 months. The use of the proposed method contributed to a significant decrease in the incidence of anemia in minor pregnant women. The proposed method of preventing iron deficiency anemia in minor pregnant women helps to reduce the frequency and severity of anemia in this complex category of patients. 

Pernicious anemia

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... malabsorption); Anemia - intrinsic factor; Anemia - IF; Anemia - atrophic gastritis ... of pernicious anemia include: Weakened stomach lining (atrophic gastritis) An autoimmune condition in which the body's immune ...

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

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Svojgr, Karel; Sumerauer, David; Puchmajerova, Alena; Vicha, Ales; Hrusak, Ondrej; Michalova, Kyra; Malis, Josef; Smisek, Petr; Kyncl, Martin; Novotna, Drahuse; Machackova, Eva; Jencik, Jan; Pycha, Karel; Vaculik, Miroslav; Kodet, Roman; Stary, Jan

2016-03-01

Fanconi anemia, complementation group D1 with bi-allelic FANCD1 (BRCA2) mutations, is a very rare genetic disorder characterized by early onset of childhood malignancies, including acute leukemia, brain cancer and nephroblastoma. Here, we present a case report of a family with 3 affected children in terms of treatment outcome, toxicity and characterization of the malignancies using comprehensive cytogenetic analysis. The first child was diagnosed with T-cell acute lymphoblastic leukemia when he was 11 months old. During chemotherapy, he suffered from repeated pancytopenia, sepsis and severe vincristine polyneuropathy, and 18 months after primary diagnosis, he succumbed to secondary acute monocytic leukemia. The second child was diagnosed with stage 2 triphasic nephroblastoma (Wilms tumor), when he was 3 years and 11 months old. During chemotherapy, he suffered from vincristine polyneuropathy. Currently, he is in complete remission, 29 months following the initial diagnosis. The third child was diagnosed with medulloblastoma with classical histology, when she was 4 years and 5 months old. After the first cycle of chemotherapy, she suffered from prolonged pancytopenia, sepsis and severe skin and mucosal toxicity. Six weeks after primary diagnosis, a first relapse in the posterior fossa was diagnosed, and at 7 and half months after primary diagnosis, a second relapse was diagnosed that led to the patient's death. Our case report underscores tumor heterogeneity, treatment toxicity and poor outcome in Fanconi anemia patients of complementation group D1. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

[Effect of anemia on child development: long-term consequences].

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Zavaleta, Nelly; Astete-Robilliard, Laura

2017-01-01

Anemia in children younger than 3 years is a public health problem in Peru and worldwide. It is believed that one of the primary causes of anemia is iron deficiency. Numerous studies and reviews have reported that iron deficiency limited psychomotor development in children and that, despite the correction of anemia, children with iron deficiency experienced poorer long-term performance in cognitive, social, and emotional functioning. These outcomes were reported in observational studies, follow-up studies, and experimental studies with a control group. Anemia can decrease school performance, productivity in adult life, quality of life, and the general income of affected individuals. Here we describe possible mechanisms underlying the effect of iron deficiency, with or without anemia, on childhood development. The high rate of anemia in this age group is a cause for concern. Moreover, anemia should be prevented in the first year of life to avoid long-term negative effects on individual development.

Host-cell reactivation of ultraviolet-irradiated SV 40 DNA in five complementation groups of xeroderma pigmentosum

International Nuclear Information System (INIS)

Abrahams, P.J.; Eb, A.J. van der

1976-01-01

Host-cell reactivation of UV-irradiated double-stranded SV40 DNA was studied in BSC-1 monkey cells, normal human cells, heterozygous Xeroderma pigmentosum xp cells, representative cell strains of the five complemention groups of XP and in XP 'variant' cells. The following percentages of survival of the plaque-forming ability of double-stranded SV40 DNA were found in XP cells compared with the value found in normal monkey and human cells: groupA, 13%; group B, 30%; group C, 18%; group D, 14%; group E, 59%; and in the heterozygous XP cells almost 100%. The survival in XP 'variant' cells was 66%. The survival of single-stranded SV40 DNA in BSC-1 cells was much lower than that of double-stranded SV40 DNA in XP cells of complementation group A, which possibly indicates that some repair of UV damage occurs even in XP cells of group A

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

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Rickman, Kimberly A; Lach, Francis P; Abhyankar, Avinash; Donovan, Frank X; Sanborn, Erica M; Kennedy, Jennifer A; Sougnez, Carrie; Gabriel, Stacey B; Elemento, Olivier; Chandrasekharappa, Settara C; Schindler, Detlev; Auerbach, Arleen D; Smogorzewska, Agata

2015-07-07

Fanconi anemia (FA) is a rare bone marrow failure and cancer predisposition syndrome resulting from pathogenic mutations in genes encoding proteins participating in the repair of DNA interstrand crosslinks (ICLs). Mutations in 17 genes (FANCA-FANCS) have been identified in FA patients, defining 17 complementation groups. Here, we describe an individual presenting with typical FA features who is deficient for the ubiquitin-conjugating enzyme (E2), UBE2T. UBE2T is known to interact with FANCL, the E3 ubiquitin-ligase component of the multiprotein FA core complex, and is necessary for the monoubiquitination of FANCD2 and FANCI. Proband fibroblasts do not display FANCD2 and FANCI monoubiquitination, do not form FANCD2 foci following treatment with mitomycin C, and are hypersensitive to crosslinking agents. These cellular defects are complemented by expression of wild-type UBE2T, demonstrating that deficiency of the protein UBE2T can lead to Fanconi anemia. UBE2T gene gains an alias of FANCT. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group A knockout mice.

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Río, Paula; Segovia, José Carlos; Hanenberg, Helmut; Casado, José Antonio; Martínez, Jesús; Göttsche, Kerstin; Cheng, Ngan Ching; Van de Vrugt, Henri J; Arwert, Fré; Joenje, Hans; Bueren, Juan A

2002-09-15

Fanconi anemia (FA) is a rare autosomal recessive disease, characterized by bone marrow failure and cancer predisposition. So far, 8 complementation groups have been identified, although mutations in FANCA account for the disease in the majority of FA patients. In this study we characterized the hematopoietic phenotype of a Fanca knockout mouse model and corrected the main phenotypic characteristics of the bone marrow (BM) progenitors using retroviral vectors. The hematopoiesis of these animals was characterized by a modest though significant thrombocytopenia, consistent with reduced numbers of BM megakaryocyte progenitors. As observed in other FA models, the hematopoietic progenitors from Fanca(-/-) mice were highly sensitive to mitomycin C (MMC). In addition, we observed for the first time in a FA mouse model a marked in vitro growth defect of Fanca(-/-) progenitors, either when total BM or when purified Lin(-)Sca-1(+) cells were subjected to in vitro stimulation. Liquid cultures of Fanca(-/-) BM that were stimulated with stem cell factor plus interleukin-11 produced low numbers of granulocyte macrophage colony-forming units, contained a high proportion of apoptotic cells, and generated a decreased proportion of granulocyte versus macrophage cells, compared to normal BM cultures. Aiming to correct the phenotype of Fanca(-/-) progenitors, purified Lin(-)Sca-1(+) cells were transduced with retroviral vectors encoding the enhanced green fluorescent protein (EGFP) gene and human FANCA genes. Lin(-)Sca-1(+) cells from Fanca(-/-) mice were transduced with an efficiency similar to that of samples from wild-type mice. More significantly, transductions with FANCA vectors corrected both the MMC hypersensitivity as well as the impaired ex vivo expansion ability that characterized the BM progenitors of Fanca(-/-) mice.

Microinjection of Micrococcus luteus UV-endonuclease restores UV-induced unscheduled DNA synthesis in cells of 9 xeroderma pigmentosum complementation groups.

NARCIS (Netherlands)

A.J.R. de Jonge; W. Vermeulen (Wim); W. Keijzer; J.H.J. Hoeijmakers (Jan); D. Bootsma (Dirk)

1985-01-01

textabstractThe UV-induced unscheduled DNA synthesis (UDS) in cultured cells of excision-deficient xeroderma pigmentosum (XP) complementation groups A through I was assayed after injection of Micrococcus luteus UV-endonuclease using glass microneedles. In all complementation groups a restoration of

Fanconi anemia founder mutation in Macedonian patients.

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Madjunkova, Svetlana; Kocheva, Svetlana A; Plaseska-Karanfilska, Dijana

2014-01-01

Fanconi anemia (FA) is a rare autosomal recessive disorder clinically characterized by developmental abnormalities, progressive bone marrow failure (BMF) and profound cancer predisposition. Approximately 65% of all affected individuals have mutation in the FANCA (Fanconi anemia complementation group A) gene. The mutation spectrum of the FANCA gene is highly heterogeneous. FA-A is usually associated with private FANCA mutations in individual families. We describe 3 unrelated patients with FA with a similar clinical presentation: BMF, renal anomalies and café-au-lait pigmentation without major skeletal abnormality. The molecular analysis of the FANCA gene using the FA MLPA kit P031-A2/P032 FANCA, showed homozygous deletion of exon 3 in all 3 patients. Molecular analysis of the flanking regions of exon 3 precisely defined unique deletion of 2,040 bp and duplication of C (1788_3828dupC). These are the first 3 patients homozygous for deletion of FANCA exon 3 described to date. Although not related, the patients originated from the same Gypsy-like ethnic population. We conclude that c.190-256_283 + 1680del2040 dupC mutation in the FANCA gene is a founder mutation in Macedonian FA patients of Gypsy-like ethnic origin. Our finding has very strong implications for these patients in formulating diagnostic and carrier-screening strategy for BMF and FA and to enable comprehensive genetic counseling. © 2013 S. Karger AG, Basel.

Acute Systolic Heart Failure Associated with Complement-Mediated Hemolytic Uremic Syndrome

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John L. Vaughn

2015-01-01

Full Text Available Complement-mediated hemolytic uremic syndrome (otherwise known as atypical HUS is a rare disorder of uncontrolled complement activation that may be associated with heart failure. We report the case of a 49-year-old female with no history of heart disease who presented with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Given her normal ADAMSTS13 activity, evidence of increased complement activation, and renal biopsy showing evidence of thrombotic microangiopathy, she was diagnosed with complement-mediated HUS. She subsequently developed acute hypoxemic respiratory failure secondary to pulmonary edema requiring intubation and mechanical ventilation. A transthoracic echocardiogram showed evidence of a Takotsubo cardiomyopathy with an estimated left ventricular ejection fraction of 20%, though ischemic cardiomyopathy could not be ruled out. Treatment was initiated with eculizumab. After several failed attempts at extubation, she eventually underwent tracheotomy. She also required hemodialysis to improve her uremia and hypervolemia. After seven weeks of hospitalization and five doses of eculizumab, her renal function and respiratory status improved, and she was discharged in stable condition on room air and independent of hemodialysis. Our case illustrates a rare association between acute systolic heart failure and complement-mediated HUS and highlights the potential of eculizumab in stabilizing even the most critically-ill patients with complement-mediated disease.

STUDY OF ANEMIA IN ADOLESCENT SCHOOL GIRLS OF BHOPAL

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Rakesh Kakkar

2011-06-01

Full Text Available Background: Iron-deficiency anemia is the most common form of malnutrition, early intervention during adolescence (girls can prevent high morbidity and mortality of these future mothers. Objectives: To study prevalence & factors contributing to anaemia among adolescent school girls. Material and Methods: Area or region addressed – Iron deficiency anemia in adolescent girls. Present study was conducted among 317 adolescent (10-19Yrs government schoolgirls of Bhopal city from June2005-July2006. Three study groups were selected from three different girls’ school by random sampling method. Statistical analysis was done with SPSS. Result & Conclusion: Overall prevalence was 58.4% among adolescent schoolgirls. Prevalence of anemia was dependent on the knowledge about prevention of anemia, literacy level, food habits, birth order & also frequency of Iron rich source viz. green leafy vegetable & non vegetarian diet. While there was no significant relation of anemia with duration of menstrual flow but there was significant (P<0.05 difference in number of anaemic cases with age at menarche i.e. with higher age at menarche; there was more chances of anemia. Level of anemia was higher (p<0.05 in early adolescent (10 -13 Years age group (81% as compared to middle (58.3% and late adolescent (17-19 years age group girls (48.7%.

Reticulocyte parameters in hemoglobinopathies and iron deficiency anemia

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Cortellazzi Laura C.

2003-01-01

Full Text Available Flow cytometric reticulocyte analysis allows the evaluation of reticulocyte maturity. New reticulocyte parameters have been used in the diagnosis and management of anemias, in the bone marrow transplant setting and in the monitoring of iron replacement or erythropoiet in therapy. Reticulocyte numbers and maturation levels have been studied in different hemoglobinopathies and the results have been correlated with the degree of ineffective erythropoiesis. In order to verify differences in reticulocyte parameters in various types of anemias and to test the absolute number of immature reticulocytes as a possible discriminating factor among various types of anemias, reticulocyte counts were performed on 219 samples from patients with sickle cell anemia (SS (n= 62, hemoglobin S trait (n=9, Sbeta thalassemia (n=7, hemoglobin SC disease (n=11, beta thalassemia trait (n=33 and iron deficiency anemia (n= 47, and non-anemic individuals (n= 50. Mean fluorescence index (MFI was defined as representative of the degree of reticulocyte immaturity and it was evaluated as a percentage and in absolute values. Reticulocyte counts and MFI values were significantly higher in SS, Sbeta thalassemic and SC groups when compared to controls, but not different among the three anemia groups. Patients with hemoglobin S trait, iron deficiency anemia and beta thalassemia trait showed reticulocyte parameters similar to the non-anemic group. There was no difference between the b thalassemic trait and iron deficiency anemia in relation to any parameters. MFI in absolute numbers were significantly higher in anemias that develop with the hemolytic process, although this was not evident in MFI percentage values. Our results showed that the erythoid expansion in sickle cell diseases (SS, SC and Sb thalassemia leads to an enhanced immature reticulocyte release from bone marrow and that the phenomena is more evident by the MFI counting in absolute figures than in percentages. We

A Group Counseling Approach for Persons Who Work With Sickle Cell Anemia Clients.

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Calvin, Richmond

Although many workshops on sickle cell anemia have been held, it is still difficult to implement a comprehensive training program for sickle cell anemia clients in many communities. Research data on the topic are somewhat nebulous and insufficient political and social pressure have been exerted to change attitudes and take action towards the…

Genetic diagnosis for congenital hemolytic anemia.

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Ohga, Shouichi

2016-01-01

Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

Immune thrombocytopenia in two unrelated Fanconi anemia patients – a mere coincidence?

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Anna eKarastaneva

2015-06-01

Full Text Available Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA, are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in congenital bone marrow failure syndromes, including FA. Here we describe the clinical course of two independent FA patients with atypical - namely immune - thrombocytopenia. While in one patient belonging to complementation group FA-A, the ITP started at 17 months of age and showed a chronically persisting course with severe purpura, responding well to intravenous immunoglobulins (IVIG and later also danazol, a synthetic androgen, the other patient (of complementation group FA-D2 had a self-limiting course that resolved after one administration of IVIG. No cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital bone marrow failure / tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed.

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients – A Mere Coincidence?

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Karastaneva, Anna; Lanz, Sofia; Wawer, Angela; Behrends, Uta; Schindler, Detlev; Dietrich, Ralf; Burdach, Stefan; Urban, Christian; Benesch, Martin; Seidel, Markus G.

2015-01-01

Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in congenital bone marrow failure syndromes, including FA. Here, we describe the clinical course of two independent FA patients with atypical – namely immune – thrombocytopenia. While in one patient belonging to complementation group FA-A, the ITP started at 17 months of age and showed a chronically persisting course with severe purpura, responding well to intravenous immunoglobulins (IVIG) and later also danazol, a synthetic androgen, the other patient (of complementation group FA-D2) had a self-limiting course that resolved after one administration of IVIG. No cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital bone marrow failure/tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed. PMID:26106590

Pregnancy Complications: Anemia

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... online community Home > Complications & Loss > Pregnancy complications > Anemia Anemia E-mail to a friend Please fill in ... anemia at a prenatal care visit . What causes anemia? Usually, a woman becomes anemic (has anemia) because ...

Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary.

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van de Vrugt, H J; Cheng, N C; de Vries, Y; Rooimans, M A; de Groot, J; Scheper, R J; Zhi, Y; Hoatlin, M E; Joenje, H; Arwert, F

2000-04-01

Fanconi anemia (FA) is an autosomal recessive disorder in humans characterized by bone marrow failure, cancer predisposition, and cellular hypersensitivity to cross-linking agents such as mitomycin C and diepoxybutane. FA genes display a caretaker function essential for maintenance of genomic integrity. We have cloned the murine homolog of FANCA, the gene mutated in the major FA complementation group (FA-A). The full-length mouse Fanca cDNA consists of 4503 bp and encodes a protein with a predicted molecular weight of 161 kDa. The deduced Fanca mouse protein shares 81% amino acid sequence similarity and 66% identity with the human protein. The nuclear localization signal and partial leucine zipper consensus motifs found in the human FANCA protein were also present in the murine homolog. In spite of the species difference, the murine Fanca cDNA was capable of correcting the cross-linker sensitive phenotype of human FA-A cells, suggesting functional conservation. Based on Northern as well as Western blots, Fanca was mainly expressed in lymphoid tissues, testis, and ovary. This expression pattern correlates with some of the clinical symptoms observed in FA patients. The availability of the murine Fanca cDNA now allows the gene to be studied in experimental mouse models.

Iron-Deficiency Anemia

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... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency ... anemia. Blood tests to screen for iron-deficiency anemia To screen for iron-deficiency anemia, your doctor ...

Anemia (For Parents)

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... Staying Safe Videos for Educators Search English Español Anemia KidsHealth / For Parents / Anemia What's in this article? ... Deficiency Anemia in My Kids? Print What Is Anemia? Anemia is when the level of healthy red ...

Iron-Deficiency Anemia

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Full Text Available ... To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency ... anemia. Blood tests to screen for iron-deficiency anemia To screen for iron-deficiency anemia, your doctor ...

Acquisition of Relative Interstrand Crosslinker Resistance and PARP Inhibitor Sensitivity in Fanconi Anemia Head and Neck Cancers.

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Lombardi, Anne J; Hoskins, Elizabeth E; Foglesong, Grant D; Wikenheiser-Brokamp, Kathryn A; Wiesmüller, Lisa; Hanenberg, Helmut; Andreassen, Paul R; Jacobs, Allison J; Olson, Susan B; Keeble, Winifred W; Hays, Laura E; Wells, Susanne I

2015-04-15

Fanconi anemia is an inherited disorder associated with a constitutional defect in the Fanconi anemia DNA repair machinery that is essential for resolution of DNA interstrand crosslinks. Individuals with Fanconi anemia are predisposed to formation of head and neck squamous cell carcinomas (HNSCC) at a young age. Prognosis is poor, partly due to patient intolerance of chemotherapy and radiation requiring dose reduction, which may lead to early recurrence of disease. Using HNSCC cell lines derived from the tumors of patients with Fanconi anemia, and murine HNSCC cell lines derived from the tumors of wild-type and Fancc(-/-) mice, we sought to define Fanconi anemia-dependent chemosensitivity and DNA repair characteristics. We utilized DNA repair reporter assays to explore the preference of Fanconi anemia HNSCC cells for non-homologous end joining (NHEJ). Surprisingly, interstrand crosslinker (ICL) sensitivity was not necessarily Fanconi anemia-dependent in human or murine cell systems. Our results suggest that the increased Ku-dependent NHEJ that is expected in Fanconi anemia cells did not mediate relative ICL resistance. ICL exposure resulted in increased DNA damage sensing and repair by PARP in Fanconi anemia-deficient cells. Moreover, human and murine Fanconi anemia HNSCC cells were sensitive to PARP inhibition, and sensitivity of human cells was attenuated by Fanconi anemia gene complementation. The observed reliance upon PARP-mediated mechanisms reveals a means by which Fanconi anemia HNSCCs can acquire relative resistance to the ICL-based chemotherapy that is a foundation of HNSCC treatment, as well as a potential target for overcoming chemoresistance in the chemosensitive individual. ©2015 American Association for Cancer Research.

The Fanconi anemia group C protein interacts with uncoordinated 5A and delays apoptosis.

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FengFei Huang

Full Text Available The Fanconi anemia group C protein (FANCC is one of the several proteins that comprise the Fanconi anemia (FA network involved in genomic surveillance. FANCC is mainly cytoplasmic and has many functions, including apoptosis suppression through caspase-mediated proteolytic processing. Here, we examined the role of FANCC proteolytic fragments by identifying their binding partners. We performed a yeast two-hybrid screen with caspase-mediated FANCC cleavage products and identified the dependence receptor uncoordinated-5A (UNC5A protein. Here, we show that FANCC physically interacts with UNC5A, a pro-apoptotic dependence receptor. FANCC interaction occurs through the UNC5A intracellular domain, specifically via its death domain. FANCC modulates cell sensitivity to UNC5A-mediated apoptosis; we observed reduced UNC5A-mediated apoptosis in the presence of FANCC and increased apoptosis in FANCC-depleted cells. Our results show that FANCC interferes with UNC5A's functions in apoptosis and suggest that FANCC may participate in developmental processes through association with the dependence receptor UNC5A.

Prevalence of anemia amongst overweight and obese children in NCT of Delhi

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Umesh Kapil

2014-09-01

Full Text Available Introduction: Anemia amongst children has been associated with impaired cognitive functions, developmental delays, behavioral and learning disturbances. Young children from high-income groups could be also being affected from anemia. Objective: To assess the prevalence of anemia amongst overweight and obese children in the age group of 5-18 years residing in National Capital Territory (NCT of Delhi. Material and Methods: Total of 413 children was included in the present study. The hemoglobin (Hb estimation was done by cyanmethemoglobin method. Results: In the age group of 5-11 years, the prevalence of anemia amongst overweight and obese children was found to be 38.4% and 29.2%. And in the age group of 12-18 years, the prevalence of anemia amongst overweight and obese children was found to be 33.3% and 21.7%; respectively. Conclusion: The findings of the present study revealed that there is a high prevalence of anemia amongst overweight and obese children in the age group of 5-18 years in NCT, Delhi.

Iron-Deficiency Anemia

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Full Text Available ... Research Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency ... iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen for iron-deficiency anemia, your doctor ...

Anemia and iron deficiency before and after bariatric surgery.

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Salgado, Wilson; Modotti, Caue; Nonino, Carla Barbosa; Ceneviva, Reginaldo

2014-01-01

Iron deficiency and anemia are changes often associated with obesity. Bariatric surgery is responsible for increasing the iron loss and reducing its absorption. The objective of this study was to evaluate anemia and iron deficiency before and after bariatric surgery and to relate them to possible predisposing factors. A retrospective study was conducted on obese patients submitted to open Roux-en-Y gastric bypass, in which clinical and laboratory data were obtained up to 48 months postoperatively. Patients were divided into groups according to the presence or absence of anemia and to the presence or absence of iron deficiency (even without anemia), and all data were compared between these groups. Preoperatively, 21.5% of patients had anemia and 20% had iron deficiency. The number of patients with anemia did not vary through the 4 years of the study, but ferritin levels significantly decreased with time (Panemia. Female gender was a variable associated with a greater incidence of iron deficiency. Anemia and iron deficiency are frequent in obese patients and must be treated before surgery. Medical and nutritional surveillance is important in the postoperative period of bariatric surgery. Management of each condition must be directed at correcting the 2 major sources of iron deficiency and anemia: food intolerance (mostly meat intolerance) and losses (frequently due to menstruation). These are the factors more related to iron deficient anemia. Copyright © 2014 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

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de Winter, J P; van der Weel, L; de Groot, J; Stone, S; Waisfisz, Q; Arwert, F; Scheper, R J; Kruyt, F A; Hoatlin, M E; Joenje, H

2000-11-01

Fanconi anemia (FA) is a chromosomal instability syndrome associated with a strong predisposition to cancer, particularly acute myeloid leukemia and squamous cell carcinoma. At the cellular level, FA is characterized by spontaneous chromosomal breakage and a unique hypersensitivity to DNA cross-linking agents. Complementation analysis has indicated that at least seven distinct genes are involved in the pathogenesis of FA. Despite the identification of four of these genes (FANCA, FANCC, FANCF and FANCG), the nature of the 'FA pathway' has remained enigmatic, as the FA proteins lack sequence homologies or motifs that could point to a molecular function. To further define this pathway, we studied the subcellular localizations and mutual interactions of the FA proteins, including the recently identified FANCF protein, in human lymphoblasts. FANCF was found predominantly in the nucleus, where it complexes with FANCA, FANCC and FANCG. These interactions were detected in wild-type and FA-D lymphoblasts, but not in lymphoblasts of other FA complementation groups. This implies that each of the FA proteins, except FANCD, is required for these complexes to form. Similarly, we show that the interaction between FANCA and FANCC is restricted to wild-type and FA-D cells. Furthermore, we document the subcellular localization of FANCA and the FANCA/FANCG complex in all FA complementation groups. Our results, along with published data, culminate in a model in which a multi-protein FA complex serves a nuclear function to maintain genomic integrity.

Autoimmune hemolytic anemia: transfusion challenges and solutions

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Barros MM

2017-03-01

Full Text Available Melca M O Barros, Dante M Langhi Jr, José O Bordin Department of Clinical and Experimental Oncology, Universidade Federal de São Paulo, São Paulo, Brazil Abstract: Autoimmune hemolytic anemia (AIHA is defined as the increased destruction of red blood cells (RBCs in the presence of anti-RBC autoantibodies and/or complement. Classification of AIHA is based on the optimal auto-RBC antibody reactivity temperatures and includes warm, cold-reactive, mixed AIHA, and drug-induced AIHA subtypes. AIHA is a rare disease, and recommendations for transfusion are based mainly on results from retrospective data and relatively small cohort studies, including heterogeneous patient samples or single case reports. In this article, we will review the challenges and solutions to safely transfuse AIHA patients. We will reflect on the indication for transfusion in AIHA and the difficulty in the accomplishment of immunohematological procedures for the selection of the safest and most compatible RBC units. Keywords: hemolytic anemia, RBC autoantibodies, autoimmunity, hemolysis, direct ­antiglobulin test

Hemolytic anemia

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Anemia - hemolytic ... bones that helps form all blood cells. Hemolytic anemia occurs when the bone marrow isn't making ... destroyed. There are several possible causes of hemolytic anemia. Red blood cells may be destroyed due to: ...

The association of pagophagia with Helicobacter pylori infection in patients with iron-deficiency anemia.

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Asma, Suheyl; Boga, Can; Ozdogu, Hakan; Serin, Ender

2009-07-01

This study aimed to determine the relationship between pagophagia (compulsive ice eating) and H. pylori infection in patients with iron-deficiency anemia. We identified H. pylori infection using the (13)C-urea breath test in 45 patients with iron-deficiency anemia (group 1) and 55 patients with iron-deficiency anemia and pagophagia (group 2). Subgroups for testing oral intestinal iron absorption were randomly assigned from both groups. These subgroups consisted of (a) 10 patients with iron-deficiency anemia, (b) 10 patients with iron-deficiency anemia and pagophagia, (c) 10 patients with iron-deficiency anemia, pagophagia, and H. pylori infection before the eradication of H. pylori and (d) subgroup c after eradication therapy. There was no difference in the rate of H. pylori infection in the iron-deficiency anemia groups, with or without pagophagia. Furthermore, oral intestinal iron absorption was not influenced by pagophagia and/or H. pylori infection. Pagophagia did not increase the risk of H. pylori infection in patients with iron-deficiency anemia. Pagophagia and H. pylori infection do not synergistically affect the development of intestinal iron absorption abnormalities.

Why Need for National Expert Group Technical Consultation on Prevention and Treatment of Iron Deficiency Anemia

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Pradeep Aggarwal

2018-04-01

Full Text Available Iron deficiency anemia is the most common nutrient deficiency in India. It impacts the lives of millions of mothers and children in our country through impaired health, development, quality of life and productivity. The Government of India initiated National Iron-plus Initiative Programme (NIPI for Control of Iron Deficiency Anaemia in 2013 with an aim to prevent and treat anaemia amongst different age groups, namely i 6-59 months; ii 6-10 years; iii 11-19 years, iv Pregnant and lactating Mothers, and v Women in Reproductive age group.

Iron-Deficiency Anemia

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Full Text Available ... en español Iron-deficiency anemia is a common type of anemia that occurs if you do not ... iron-deficiency anemia and help rule out other types of anemia. Treatment will explain treatment-related complications ...

Anemia (For Teens)

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... Staying Safe Videos for Educators Search English Español Anemia KidsHealth / For Teens / Anemia What's in this article? ... Enough Iron Print en español Anemia What Is Anemia? Lots of teens are tired. With all the ...

Reticulocyte maturity indices in iron deficiency anemia

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Muriel Wollmann

2014-01-01

Full Text Available Objective: The aim of this study was to analyze the reticulocyte maturity indices (low, medium, and high fluorescence ratios in iron deficient 1- to 6-year-old children, and identify the prevalence of iron deficiency anemia in this population. Methods: The present study included 39 subjects, divided into two groups: control subjects (n = 33, and subjects with iron deficiency anemia (n = 6. The results were analyzed by Student's t-test for comparison of means. Differences were considered significant when two-tailed p-value < 0.05. Results: Subjects with iron deficiency anemia presented increases in the proportion of mean (10.3 ± 4.7% vs. 6.0 ± 3.4%; p-value = 0.003, and high fluorescence reticulocytes (2.3 ± 0.87% vs. 0.9 ± 0.9%; p-value = 0.03 compared to the control group. The prevalence of anemia in this population was 15% (n = 6. Conclusion: The indices related to immaturity of reticulocytes are higher in the presence of iron deficiency, thus demonstrating a deficiency in the raw material to form hemoglobin and are, therefore, possible early markers of iron deficiency and anemia. We emphasize the need to standardize these indices for use in clinical practice and lab test results.

Risk Factors for Anemia in Pregnancy: A Case Control Study

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Rutuja Pundkar

2017-12-01

Full Text Available Background: Aim of the study was to find the risk factors leading to Anemia in pregnancy. The main objective was to study the various sociodemographic factors leading to anemia. And to assess the knowledge about anemia among study participants. Material and methods: The present Case control study was carried out at Primary Health Centre, to determine the risk factors leading to anemia in pregnancy. A total of 308 pregnant females were registered. Among them two groups were made, group I cases and group II controls. Each group had 50 cases each. Laboratory test were done and females having hemoglobin less than 11mg/dl were considered anemic. Anemic females were considered cases and females having Hb >11mg/dl were considered controls. Data analysis was done using SPSS software. Results: The overall mean haemoglobin (Hb was 11.55g/dL in controls, whereas it was seen that among the cases it was 9.58g/dL.It would seem that diet, family size, education, social class, gravida and parity are associated with anemia in pregnancy. Conclusion: After adjusting for all the possible covariates there seems to be significant association between Hb levels and age group, education level, family size, diet, gravida and parity.

Fanconi anemia

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... possibly given through a vein) to treat infections Blood transfusions to treat symptoms due to low blood counts ... have regular check-ups to screen for cancer. Alternative Names Fanconi's anemia; Anemia - Fanconi's Images Formed elements of blood References Bagby GC. Aplastic anemia and related bone ...

Hemolytic Anemia

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... worsen your condition or lead to complications. Hemolytic Anemia and Children Parents of children who have hemolytic anemia usually ... members, friends, and your child's classmates about hemolytic anemia. You also may want to tell your child's teachers or other caregivers about the condition. Let ...

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... anemia, your doctor may order the following blood tests to diagnose iron-deficiency anemia: Complete blood count (CBC) to ... than normal when viewed under a microscope. Different tests help your doctor diagnose iron-deficiency anemia. In iron-deficiency anemia, blood ...

Quiescent complement in nonhuman primates during E coli Shiga toxin-induced hemolytic uremic syndrome and thrombotic microangiopathy.

Science.gov (United States)

Lee, Benjamin C; Mayer, Chad L; Leibowitz, Caitlin S; Stearns-Kurosawa, D J; Kurosawa, Shinichiro

2013-08-01

Enterohemorrhagic Escherichia coli (EHEC) produce ribosome-inactivating Shiga toxins (Stx1, Stx2) responsible for development of hemolytic uremic syndrome (HUS) and acute kidney injury (AKI). Some patients show complement activation during EHEC infection, raising the possibility of therapeutic targeting of complement for relief. Our juvenile nonhuman primate (Papio baboons) models of endotoxin-free Stx challenge exhibit full spectrum HUS, including thrombocytopenia, hemolytic anemia, and AKI with glomerular thrombotic microangiopathy. There were no significant increases in soluble terminal complement complex (C5b-9) levels after challenge with lethal Stx1 (n = 6) or Stx2 (n = 5) in plasma samples from T0 to euthanasia at 49.5 to 128 hours post-challenge. d-dimer and cell injury markers (HMGB1, histones) confirmed coagulopathy and cell injury. Thus, complement activation is not required for the development of thrombotic microangiopathy and HUS induced by EHEC Shiga toxins in these preclinical models, and benefits or risks of complement inhibition should be studied further for this infection.

Recommendations regarding splenectomy in hereditary hemolytic anemias

Science.gov (United States)

Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; De Franceschi, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C.; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives-Corrons, Jules; Martinez, Patricia Aguilar; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, Maria Domenica; Roberts, Irene; Tamary, Hannah

2017-01-01

Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. In light of the priorities identified by the European Hematology Association Roadmap we generated specific recommendations for each disorder, except thalassemia syndromes for which there are other, recent guidelines. Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. PMID:28550188

Anemia and associated factors among school-age children in Cape ...

African Journals Online (AJOL)

Anemia is a problem affecting a large group of school children in sub-Saharan Africa, contributing to morbidity in this region. In Cape Verde the magnitude of anemia in school-age children is unknown. The study aimed to assess the prevalence of anemia and associated factors among children in Cape Verde. The data are ...

What Is Aplastic Anemia?

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... Home / Anemia Aplastic Anemia Also known as What Is Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is ... heart, heart failure , infections, and bleeding. Severe aplastic anemia can even cause death. Overview Aplastic anemia is ...

Sodium butyrate stimulates cellular recovery from UV damage in xeroderma pigmentosum cells belonging to complementation group F

International Nuclear Information System (INIS)

Nishigori, Chikako; Takebe, Hiraku

1987-01-01

Possible stimulation of the DNA repair capacity by sodium butyrate in normal and xeroderma pigmentosum (XP) cells was investigated. XP cells belonging to the complementation group F showed considerable stimulation of DNA repair by sodium butyrate in terms of both the amount of unscheduled DNA synthesis (UDS) and the colony-forming ability after UV irradiation. UDS in XP cells belonging to the complementation group A was not enhanced, while normal cells showed slight enhancement, but less than that of XP F cells. In XP A, XP C, and normal cells, sodium butyrate treatment enhanced the killing effect of UV irradiation. The residual repair capacity in XP F cells appeared to be stimulated by sodium butyrate. (author)

Syngeneic transplantation in aplastic anemia

DEFF Research Database (Denmark)

Gerull, Sabine; Stern, Martin; Apperley, Jane

2013-01-01

Aplastic anemia is usually treated with immunosuppression or allogeneic transplant, depending on patient and disease characteristics. Syngeneic transplant offers a rare treatment opportunity with minimal transplant-related mortality, and offers an insight into disease mechanisms. We present here...... a retrospective analysis of all syngeneic transplants for aplastic anemia reported to the European Group for Blood and Marrow Transplantation. Between 1976 and 2009, 88 patients received 113 transplants. Most transplants (n=85) were preceded by a conditioning regimen, 22 of these including anti-thymocyte globulin...

Fanconi anemia and DNA repair.

Science.gov (United States)

Grompe, M; D'Andrea, A

2001-10-01

Fanconi anemia (FA) is an autosomal recessive disorder caused by defects in at least eight distinct genes FANCA, B, C, D1, D2, E, F and G. The clinical phenotype of all FA complementation groups is similar and is characterized by progressive bone marrow failure, cancer proneness and typical birth defects. The principal cellular phenotype is hypersensitivity to DNA damage, particularly interstrand DNA crosslinks. The FA proteins constitute a multiprotein pathway whose precise biochemical function(s) remain unknown. Five of the FA proteins (FANCA, C, E, F and G) interact in a nuclear complex upstream of FANCD2. FANCB and FANCD1 have not yet been cloned, but it is likely that FANCB is part of the nuclear complex and that FANCD1 acts downstream of FANCD2. The FA nuclear complex regulates the mono-ubiquitination of FANCD2 in response to DNA damage, resulting in targeting of this protein into nuclear foci. These foci also contain BRCA1 and other DNA damage response proteins. In male meiosis, FANCD2 also co-localizes with BRCA1 at synaptonemal complexes. Together, these data suggest that the FA pathway functions primarily as a DNA damage response system, although its exact role (direct involvement in DNA repair versus indirect, facilitating role) has not yet been defined.

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

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Kupfer, G; Naf, D; Garcia-Higuera, I; Wasik, J; Cheng, A; Yamashita, T; Tipping, A; Morgan, N; Mathew, C G; D'Andrea, A D

1999-04-01

Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A-H). Three FA genes, corresponding to complementation groups A, C, and G, have been cloned, but the function of the encoded FA proteins remains unknown. We recently demonstrated that the FANCA and FANCC proteins bind and form a nuclear complex. In the current study, we identified a homozygous mutation in the FANCA gene (3329A>C) in an Egyptian FA patient from a consanguineous family. This mutant FANCA allele is predicted to encode a mutant FANCA protein, FANCA(H1110P), in which histidine 1110 is changed to proline. Initially, we characterized the FANCA(H1110P) protein, expressed in an Epstein Barr virus (EBV)-immortalized lymphoblast line derived from the patient. Unlike wild-type FANCA protein expressed in normal lymphoblasts, FANCA(H1110P) was not phosphorylated and failed to bind to FANCC. To test directly the effect of this mutation on FANCA function, we used retroviral-mediated transduction to express either wild-type FANCA or FANCA(H1110P) protein in the FA-A fibroblast line, GM6914. Unlike wild-type FANCA, the mutant protein failed to complement the mitomycin C sensitivity of these cells. In addition, the FANCA(H1110P) protein was defective in nuclear accumulation in the transduced cells. The characteristics of this mutant protein underscore the importance of FANCA phosphorylation, FANCA/FANCC binding, and nuclear accumulation in the function of the FA pathway.

Iron-Deficiency Anemia

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Full Text Available ... Blood Transfusion Heart-Healthy Lifestyle Changes Heart Failure Hemolytic Anemia Hemophilia Pernicious Anemia Restless Legs Syndrome Von Willebrand Disease Other Resources NHLBI resources Your Guide to Anemia [ ...

What Is Anemia?

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... Intramural Research Home / Anemia Anemia Also known as Iron-poor blood , Low blood , ... you or your child diagnosed with Diamond-Blackfan anemia? The registry is collecting information from people with ...

Anemia

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... child might have anemia. They will do a physical exam and review your health history and symptoms. To diagnose anemia, your doctor ... and Wellness Staying Healthy Healthy Living Travel Occupational Health First Aid and ... Pets and Animals myhealthfinder Food and Nutrition Healthy Food ...

The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia

OpenAIRE

Stanley, Edward C.; Azzinaro, Paul A.; Vierra, David A.; Howlett, Niall G.; Irvine, Steven Q.

2016-01-01

Fanconi anemia (FA) is a human genetic disease characterized by congenital defects, bone marrow failure, and increased cancer risk. FA is associated with mutation in one of 24 genes. The protein products of these genes function cooperatively in the FA pathway to orchestrate the repair of DNA interstrand cross-links. Few model organisms exist for the study of FA. Seeking a model organism with a simpler version of the FA pathway, we searched the genome of the simple chordate Ciona intestinalis ...

Repair of damage by ultraviolet radiation in xeroderma pigmentosum cell strains of complementation groups E and F

NARCIS (Netherlands)

Zelle, B.; Berends, F.; Lohman, P.H.M.

1980-01-01

The xeroderma pignemtosum fibroblast strains XP2RO, complementation group E, and XP23OS, group F were compared with normal human primary fibroblasts UV. regard to repair of damage induced by 254-nn UV> In XP2RO cells, repair DNA synthesis, measured by autoradiography (unscheduled DNA synthesis =

Pengaruh taburia terhadap status anemia dan status gizi balita gizi kurang

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Wahyuni Kunayarti

2014-07-01

Full Text Available Background: Micronutrient deficiency seriously contributes to child morbidity and mortality. The need for micronutrient can be fulfilled from food, fortified food, and direct supplementation. Taburia is multivitamin multimineral that is aimed to meet the need for micronutrient of undernourished under-fives and to prevent the increased prevalence of undernourishment. It is necessary efficacy and effectiveness study of Taburia to anemia and nutritional status of undernourished under fives of 24-55 months. Objective: To identify the effect of Taburia supplementation to anemia and nutrition status of under fives at District of Lombok Timur. Method: The study was experimental with prospective cohort study design carried out at District of Lombok Timur, Province of Nusa Tenggara Barat. The subject of the study was undernourished under fives at the area of Nutrition Improvement Community through Empowerment (NICE project. The independent variables were Taburia and biscuits; the dependent variables were anemia and nutrition status; and the external variables were the intake of energy, protein, vitamin A, vitamin C, Fe, and zinc. Data analysis used ANOVA and paired t-test. Results: There was a significant difference in the average level of hemoglobin of the subject after the intervention, either in taburia group, biscuit group, or taburia+biscuit group (p<0.05. There was the difference in average weight after intervention in the three groups (p<0.05. There was no significant difference in the average level of hemoglobin and the average level of weight between biscuit group and Taburia+biscuit group. There was a change in anemia status from anemia to nonanemia; the highest was in Taburia group, i.e. 96%; and better nutrition status at the end of the experiment occurred at Taburia+biscuit group from emaciated to normal (100%. Conclusion: Taburia supplementation could increase anemia status. Micronutrient supplementation was needed to increase nutrition

Socio-economic and demographic determinants of childhood anemia

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Sankar Goswmai

2015-10-01

Full Text Available ABSTRACT OBJECTIVE: To evaluate socio-economic and demographic determinants of anemia among Indian children aged 6-59 months. METHODS: Statistical analysis was performed on the cross-sectional weighted sample of 40,885 children from 2005 to 2006 National Family Health Survey by using multinomial logistic regression to assess the significance of some risk factors in different degrees of child anemia. Anemia was diagnosed by World Health Organization (WHO cut-off points on hemoglobin level. Pearson's chi-squared test was applied to justify the associations of anemia with different categories of the study population. RESULTS: The prevalence of anemia was 69.5%; 26.2% mild, 40.4% moderate, and 2.9% severe anemia. Overall prevalence rate, along with mild and moderate cases, showed an increasing trend up to 2 years of age and then decreased. Rural children had a higher prevalence rate. Of 28 Indian states in the study, 10 states showed very high prevalence, the highest being Bihar (77.9%. Higher birth order, high index of poverty, low level of maternal education, mother's anemia, non-intake of iron supplements during pregnancy, and vegetarian mother increased the risks of all types of anemia among children (p < 0.05. Christian population was at lower risk; and Scheduled Caste, Scheduled Tribe, and Other Backward Class categories were at higher risk of anemia. CONCLUSION: The results suggest a need for proper planning and implementation of preventive measures to combat child anemia. Economically under-privileged groups, maternal nutrition and education, and birth control measures should be priorities in the programs.

Anemia and Pregnancy

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... Advocacy Toolkit Home For Patients Blood Disorders Anemia Anemia and Pregnancy Your body goes through significant changes ... becoming anemic. back to top Is Pregnancy-Related Anemia Preventable? Good nutrition is the best way to ...

Iron-deficiency anemia as a subclinical celiac disease presentation in an Argentinian population.

Science.gov (United States)

Lasa, J S; Olivera, P; Soifer, L; Moore, R

There is a wide heterogeneity in the reports of celiac disease prevalence in iron-deficiency anemia patients. To determine the prevalence of celiac disease in patients with iron-deficiency anemia. Adult patients with a diagnosis of iron-deficiency anemia were enrolled for upper endoscopy with duodenal biopsies. Healthy volunteers that underwent upper endoscopy were enrolled as controls. A total of 135 patients with iron-deficiency anemia and 133 controls were enrolled. Celiac disease prevalence was higher in the iron-deficiency anemia group [11.11 vs. 1.51%, OR: 8.18 (1.83-36.55), P=.001). Of the celiac disease patients in the iron-deficiency anemia group, 73.3% had at least one endoscopic sign suggesting villous atrophy, whereas 100% of the celiac disease patients in the control group presented with at least one endoscopic sign. Patients with iron-deficiency anemia have an increased risk for celiac disease. Up to 25% of these patients may not present any endoscopic sign suggesting villous atrophy. Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

ANEMIA DAN ANEMIA GIZI BESI PADA KEHAMILAN: HUBUNGANNYA DENGAN ASUPAN PROTEIN DAN ZAT GIZI MIKRO

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Nur Handayani Utami

2015-03-01

Full Text Available Anemia masih menjadi permasalahan kesehatan pada wanita hamil. Zat besi dianggap sebagai salah satu zat gizi mikro yang berperan terhadap terjadinya anemia. Kekurangan gizi besi dalam tingkat lanjut dapat menyebabkan anemia, yang disebut sebagai anemia gizi besi. Tujuan studi ini adalah untuk menganalisis perbedaan antara asupan protein dan gizi mikro serta menghitung odd ratio (OR kejadian anemia dan anemia gizi besi akibat asupan protein dan gizi mikro pada wanita hamil di lokasi studi. Analisis ini merupakan analisa dari data studi kohor Tumbuh Kembang anak pada tahun pertama, yang dilaksanakan di Kelurahan Kebon Kalapa dan Ciwaringin, Kota Bogor yang dianalisa menggunakan disainkasus kontrol. Sebanyak 47 ibu hamil menjadi sampel dalam analisa ini. Kategori untuk anemia yaitu apabila kadar hemoglobin (Hb ibu hamil ≤11 g/dL. Kekurangan gizi besi dikategorikan apabila kadar serum transferrin reseptor (sTfR diatas 4.4 mg/L. Sedangkan Anemia Gizi Besi dikategorikan apabila memiliki kadar Hb < 11 g/dL dan sTfr > 4.4 mg/L. Tes one way anova digunakan untuk menganalisa adanya perbedaan asupan energi, protein dan zat gizi mikro antara ibu hamil yang mengalami anemia, anemia gizi besi maupun yang normal. Odd ratio dianalisa dengan menggunakan uji chi square. Nilai signifikan ditentukan apabila nilai p value < 0.05 dan perhitungan OR> 1. 27.7% dari ibu hamil di lokasi studi mengalami anemia, 14.9% tergolong dalam anemia ringan, 10.6% anemia sedang dan 2.1% anemia berat. Anemia gizi besi dialami oleh 17% dari wanita hamil. Terdapat hubungan yang signifikan antara keparahan anemia dan terjadinya anemia gizi besi. Tidak ditemukan perbedaan antara asupan protein, besi, folate dan zink pada wanita yang mengalami anemia, anemia gizi besi maupun yang normal. Akan tetapi terdapat kecenderungan bahwa asupan zat besi dan seng pada ibu yang anemia dan anemia gizi besi lebih rendah daripada ibu yang normal. Anemia masih menjadi permasalahan kesehatan pada ibu

Inborn anemias in mice

International Nuclear Information System (INIS)

Bernstein, S.E.; Barker, J.E.; Russell, E.S.

1981-06-01

hereditary anemias of mice have been the chief objects of investigation. At present under study are four macrocytic anemias, five hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an α-thalassemia, and a new target-cell anemia. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules, and thus controls a different metabolic process. Thus our wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse. Each anemia is studied through: (a) characterization of peripheral blood values, (b) determinations of radiosensitivity under a variety of conditions, (c) measurements of iron metabolism and heme synthesis, (d) histological and biochemical study of blood-forming tissue, (e) functional tests of the stem cell component, (f) examination of responses to erythroid stimuli, and (g) transplantation of tissue between individuals of differently affected genotypes

Anemia Due to Excessive Bleeding

Science.gov (United States)

... Hemolytic Anemia Hemoglobin C, S-C, and E Diseases Iron Deficiency Anemia Sickle Cell Disease Thalassemias Vitamin Deficiency Anemia (See ... Hemolytic Anemia Hemoglobin C, S-C, and E Diseases Iron Deficiency Anemia Sickle Cell Disease Thalassemias Vitamin Deficiency Anemia NOTE: ...

Anemia as a complication of parvovirus b19 infection in renal transplant recipients.

Science.gov (United States)

Čapenko, Svetlana; Kozireva, Svetlana; Folkmane, Inese; Bernarde, Kristīna; Rozentāls, Rafails; Murovska, Modra

2012-01-01

The frequency of B19 infection in renal transplant donors and recipients was studied to determine the significance of active viral infection in the development of anemia. Serum, plasma, and peripheral blood leukocyte samples of 47 renal transplant donors, 38 recipients with anemia (Group 1), and 25 without anemia (Group 2) after renal transplantation were evaluated for the presence of anti-B19 specific antibodies (ELISA) and B19 DNA (nPCR). Active persistent B19 infection after renal transplantation was detected in 12 of the 38 in the Group 1 (10 had reactivation and 2 primary infection), and none of the recipients in the Group 2 had it. Of the 12 recipients in the Group 1, 10 were seropositive and 2 seronegative before renal transplantation; 10 received the transplants from the seropositive and 2 from seronegative donors. rHuEPO therapy-resistant severe anemia was detected only in the recipients with active B19 infection after renal transplantation in the Group 1 (7/12). The logistic regression analysis revealed a significant relationship between active B19 infection and severe anemia (OR, 0.039; 95% CI, 0.006-0.257; P=0.001). Active B19 infection was documented only in the anemic recipients and could be associated with the development of severe anemia after renal transplantation. This allows us to recommend concurrent screening for viral DNA in plasma and detection of anti-B19 IgM class antibodies. To find the association between B19 infection and the development of anemia, further investigations are necessary.

Anemia among hospitalized children at a multispecialty hospital, Bangalore (Karnataka, India

Directory of Open Access Journals (Sweden)

Firdos Saba

2014-01-01

Full Text Available Background: Due to the limited availability of data related to anemia in hospitalized children, this research was conducted to study the occurrence, morphological patterns, distribution in different age groups, sex, and severity of anemia among children aged 6 months-12 years. Setting: Inpatients in department of pediatrics at a multispecialty hospital, Bangalore. Study Design: Descriptive cross sectional study from Oct, 2011 to Sep, 2012. Materials and Methods: Ethical clearance was obtained from the ethical committee of the hospital as per 1964 Declaration of Helsinki. Unrestricted random sampling method was used to select the study group consisting of 882 children between the age of 6 months and 12 years. After obtaining the consent, data were obtained and statistically analyzed using statistical tools like mean, median, standard deviation, and Chi-square test. Results: Out of 882 children selected, 642 (72.79% were anemic, out of which a majority of 629 (98% children suffered from nonhemoglobinopathies and a meagre 13 (2% suffered from hemoglobinopathies. Children in the age group of 6 months-1 year were most affected with nonhemoglobinopathies (33%. Moderate degree of anemia (hemoglobin = 7-9.9 g/dL was the commonest grade of anemia (80%, while microcytic hypochromic anemia was commonest morphological type of anemia (48%. Among hemoglobinopathies, thalassemia major was the most common (69%, that is 9 out of 13 patients. Conclusion: The occurrence of anemia among children aged between 6 months and 12 years is high and nonhemoglobinopathies predominate over the hemoglobinopathies.

Your Guide to Anemia

Science.gov (United States)

... Inherited Causes l Folate or iron deficiency l Fanconi anemia from poor diet l Shwachman-Diamond l Demand ... cells, leading to aplastic anemia. These conditions include Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, Diamond- Blackfan anemia, ...

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... to moderate iron-deficiency anemia, or red blood cell transfusion for severe iron-deficiency anemia. You may ... body needs iron to make healthy red blood cells. Iron-deficiency anemia usually develops over time because ...

Iron-Deficiency Anemia

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Full Text Available ... view the colon directly. What if my doctor thinks something else is causing my iron-deficiency anemia? ... deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature ...

Iron-Deficiency Anemia

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Full Text Available ... you are diagnosed with iron-deficiency anemia. Risk Factors You may have an increased risk for iron- ... iron-deficiency anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your ...

Iron-Deficiency Anemia

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Full Text Available ... detect signs of iron-deficiency anemia and help rule out other types of anemia. Treatment will explain ... your blood. More testing may be needed to rule out other types of anemia. Tests for gastrointestinal ...

About Anemia (For Kids)

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... Safe Videos for Educators Search English Español About Anemia KidsHealth / For Kids / About Anemia What's in this ... to every cell in your body. What Is Anemia? Anemia happens when a person doesn't have ...

[Blunted erythropoietic response in the anemia of anorexia nervosa].

Science.gov (United States)

Juncà, Jordi; Sorigué, Marc; Rodríguez-Hernández, Inés; Aldea, Marta; Granada, María Luisa; Sánchez-Planell, Lluis

2015-11-20

The cause of the anemia in anorexia nervosa (AN) has not been fully ascertained. Ferritin, folate and cobalamin values are usually within normal ranges. Anemia does not have a relationship with bone marrow changes and erythropoietin (EPO) levels have not been investigated. The objective of this study was to evaluate the EPO response in a small group of AN patients. EPO levels were measured in serum samples of 41 female AN patients (11 with anemia, and 30 with normal blood cell count). The adequacy of EPO response was assessed by comparing the increase observed in a group of normal weight patients with anemia. EPO concentrations in anemic AN patients were higher than in non-anemic: 20.63mU/mL (4.04-28.46) vs 8.7mU/mL (3.9-20.93), P=.0088, but the increase in EPO was lower than expected (27.85mU/mL [17.7-118.9]), P=.014. BMI and the difference between actual and expected EPO were inversely correlated. Inadequate EPO response may partly explain anemia in AN, but further studies are necessary. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Iron-Deficiency Anemia

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Full Text Available ... for iron-deficiency anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your doctor may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. ...

Iron-Deficiency Anemia

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Full Text Available ... Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español ... bleeding Consuming less than recommended daily amounts of iron Iron-deficiency anemia can be caused by getting ...

Iron-Deficiency Anemia

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Full Text Available ... may require intravenous (IV) iron therapy or a blood transfusion . Iron supplements Your doctor may recommend that you ... Anemia Aplastic Anemia Arrhythmia Blood Donation Blood Tests Blood Transfusion Heart-Healthy Lifestyle Changes Heart Failure Hemolytic Anemia ...

Iron-Deficiency Anemia

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Full Text Available ... Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer en español Iron-deficiency anemia is a ... address the cause of your iron deficiency, such as any underlying bleeding. If undiagnosed or untreated, iron- ...

Iron-Deficiency Anemia

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Full Text Available ... Medicine (TOPMed) Program Non-NHLBI resources Anemia (National Library of Medicine, MedlinePlus) Anemia in Chronic Kidney Disease ( ... Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library of Medicine, MedlinePlus) Building 31 31 Center Drive ...

Iron-Deficiency Anemia

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Full Text Available ... anemia if you have certain risk factors , including pregnancy. To prevent iron-deficiency anemia, your doctor may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. Blood tests to screen for ...

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.

Science.gov (United States)

Mantere, T; Haanpää, M; Hanenberg, H; Schleutker, J; Kallioniemi, A; Kähkönen, M; Parto, K; Avela, K; Aittomäki, K; von Koskull, H; Hartikainen, J M; Kosma, V-M; Laasanen, S-L; Mannermaa, A; Pylkäs, K; Winqvist, R

2015-07-01

Mutations in downstream Fanconi anemia (FA) pathway genes, BRCA2, PALB2, BRIP1 and RAD51C, explain part of the hereditary breast cancer susceptibility, but the contribution of other FA genes has remained questionable. Due to FA's rarity, the finding of recurrent deleterious FA mutations among breast cancer families is challenging. The use of founder populations, such as the Finns, could provide some advantage in this. Here, we have resolved complementation groups and causative mutations of five FA patients, representing the first mutation confirmed FA cases in Finland. These patients belonged to complementation groups FA-A (n = 3), FA-G (n = 1) and FA-I (n = 1). The prevalence of the six FA causing mutations was then studied in breast (n = 1840) and prostate (n = 565) cancer cohorts, and in matched controls (n = 1176 females, n = 469 males). All mutations were recurrent, but no significant association with cancer susceptibility was observed for any: the prevalence of FANCI c.2957_2969del and c.3041G>A mutations was even highest in healthy males (1.7%). This strengthens the exclusive role of downstream genes in cancer predisposition. From a clinical point of view, current results provide fundamental information of the mutations to be tested first in all suspected FA cases in Finland. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Iron-Deficiency Anemia

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Full Text Available ... exploring about iron-deficiency anemia. Read more New treatments for disorders that lead to iron-deficiency anemia. We are ... and other pathways. This could help develop new therapies for conditions that ... behavior, thinking, and mood during adolescence. Treating anemia in ...

Iron deficiency anemia

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Anemia - iron deficiency ... iron from old red blood cells. Iron deficiency anemia develops when your body's iron stores run low. ... You may have no symptoms if the anemia is mild. Most of the time, ... slowly. Symptoms may include: Feeling weak or tired more often ...

Neonatal outcome after fetal anemia managed by intrauterine transfusion.

Science.gov (United States)

Garabedian, C; Rakza, T; Thomas, D; Wibaut, B; Vaast, P; Subtil, D; Houfflin-Debarge, V

2015-11-01

In-utero transfusion is now well under control and improves the survival of foetuses monitored for fetal anemia with a survival rate of more than 80 %. The aim was to evaluate short-term neonatal outcome after fetal severe anemia managed by intrauterine transfusions. We did a retrospective study of all neonates born after management of severe fetal anemia (n = 93) between January 1999 and January 2013 in our regional center. The two main causes of anemia were maternal red blood cell alloimmunization (N = 81, 87 %) and Parvovirus B19 infection (N = 10, 10.8 %). In the alloimmunization group, phototherapy was implemented in 85.2 % of cases with a maximum level of bilirubin of 114.4 ± 60.7 (mg/dl). Transfusion and exchange transfusion were, respectively, required in 51.9 % and in 34.6 % of cases. One neonate presented a convulsive episode, and we observed three neonatal deaths. In the parvovirus group, none of the child had anemia at birth and no management was necessary. Contemporary management of Rhesus disease is associated with encouraging neonatal outcomes. In case of Parvovirus infection, no specific management is necessary at. But, in all cases of fetal anemia, children should be followed up with particular attention to neurologic development. • In-utero transfusion is now well under control and improves the survival of fetuses monitored for fetal anemia. • Limited studies are available on the effect of IUT on postnatal outcome in infants with a history of fetal anemia. What is New: • Contemporary management of severe Rhesus disease is associated with encouraging neonatal outcomes. • The majority of infants can be managed with phototherapy and a limited number of top-up transfusions and exchange transfusions. In case of Parvovirus infection, the short-term neonatal outcome is excellent.

A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA.

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Yagasaki, H; Adachi, D; Oda, T; Garcia-Higuera, I; Tetteh, N; D'Andrea, A D; Futaki, M; Asano, S; Yamashita, T

2001-12-15

Fanconi anemia (FA) is an autosomal recessive disease with congenital anomalies, bone marrow failure, and susceptibility to leukemia. Patient cells show chromosome instability and hypersensitivity to DNA cross-linking agents. At least 8 complementation groups (A-G) have been identified and 6 FA genes (for subtypes A, C, D2, E, F, and G) have been cloned. Increasing evidence indicates that a protein complex assembly of multiple FA proteins, including FANCA and FANCG, plays a crucial role in the FA pathway. Previously, it was reported that FANCA was phosphorylated in lymphoblasts from normal controls, whereas the phosphorylation was defective in those derived from patients with FA of multiple complementation groups. The present study examined phosphorylation of FANCA ectopically expressed in FANCA(-) cells. Several patient-derived mutations abrogated in vivo phosphorylation of FANCA in this system, suggesting that FANCA phosphorylation is associated with its function. In vitro phosphorylation studies indicated that a physiologic protein kinase for FANCA (FANCA-PK) forms a complex with the substrate. Furthermore, at least a part of FANCA-PK as well as phosphorylated FANCA were included in the FANCA/FANCG complex. Thus, FANCA-PK appears to be another component of the FA protein complex and may regulate function of FANCA. FANCA-PK was characterized as a cytoplasmic serine kinase sensitive to wortmannin. Identification of the protein kinase is expected to elucidate regulatory mechanisms that control the FA pathway.

Iron-Deficiency Anemia

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Full Text Available ... Topics News & Resources Intramural Research Home / < Back To Health Topics / Iron-Deficiency Anemia Iron-Deficiency Anemia Also known as Leer ... and symptoms as well as complications from iron-deficiency anemia. Research for Your Health The NHLBI is part of the U.S. Department ...

Diagnosis of eight groups of xeroderma pigmentosum by genetic complementation using recombinant adenovirus vectors.

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Yamashita, Toshiharu; Okura, Masae; Ishii-Osai, Yasue; Hida, Tokimasa

2016-10-01

Because patients with xeroderma pigmentosum (XP) must avoid ultraviolet (UV) light from an early age, an early diagnosis of this disorder is essential. XP is composed of seven genetic complementation groups, XP-A to -G, and a variant type (XP-V). To establish an easy and accurate diagnosis of the eight disease groups, we constructed recombinant adenoviruses that expressed one of the XP cDNA. When fibroblasts derived from patients with XP-A, -B, -C, -D, -F or -G were infected with the adenovirus expressing XPA, XPB, XPC, XPD, XPF or XPG, respectively, and UV-C at 5-20 J/m 2 was irradiated, cell viability was clearly recovered by the corresponding recombinant adenoviruses. In contrast, XP-E and XP-V cells were not significantly sensitive to UV irradiation and were barely complemented by the matched recombinant adenoviruses. However, co-infection of Ad-XPA with Ad-XPE increased survival rate of XP-E cells after UV-C exposure. When XP-V cell strains, including one derived from a Japanese patient, were infected with Ad-XPV, exposed to UV-B and cultured with 1 mmol/L of caffeine, flow cytometry detected a characteristic decrease in the S phase in all the XP-V cell strains. From these results, the eight groups of XP could be differentiated by utilizing a set of recombinant adenoviruses, indicating that our procedure provides a convenient and correct diagnostic method for all the XP groups including XP-E and XP-V. © 2016 Japanese Dermatological Association.

Aplastic anemia and related disorders in atomic bomb survivors

International Nuclear Information System (INIS)

Ichimaru, Michito; Tomonaga, Yu; Matsunaga, Masako; Sadamori, Naoki; Ishimaru, Toranosuke.

1978-01-01

Whether the incidence of aplastic anemia significantly increases due to the later effect of atomic-bomb radiation was studied. After the data of aplastic anemia which occurred within 1950 - 1973 were evaluated and the diagnoses of the cases were certified, the incidence of aplastic anemia per 109,000 inhabitants of the cities of Hiroshima and Nagasaki was calculated and compared according to the dose of atomic-bomb radiation. There was no increase in the incidence according to an increase in radiation dose, and there was no fact that aplastic anemia increased in a certain period either. Most of the atomic-bomb survivors who were close to the epicenter and were clinically diagnosed as aplastic anemia had leukemia lesion or myeloid proliferating lesion, and it is likely to be that pathological changes resembling aplastic anemia may appear in a certain phase of myeloid proliferation or as a phenotype of myeloid proliferation. An evaluation was made on cases of aplastic anemia of other groups, but the doses of atomic-bomb radiation which they received were not so much to give effect on the bone marrow except only two cases. (Ueda, J.)

Anemia in Chronic Kidney Disease

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... artérielle Heart Disease Mineral & Bone Disorder Anemia in Chronic Kidney Disease What is anemia? Anemia is a condition in ... as they should. How is anemia related to chronic kidney disease? Anemia commonly occurs in people with chronic kidney ...

Anemia in Chronic Kidney Disease

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... Cysts Solitary Kidney Your Kidneys & How They Work Anemia in Chronic Kidney Disease What is anemia? Anemia is a condition in which the body ... function as well as they should. How is anemia related to chronic kidney disease? Anemia commonly occurs ...

Combatting anemia in adolescent girls: a report from India.

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Kanani, S

1994-01-01

In a study on anemia in adolescent girls living in slum areas, 105 girls, aged 10 to 18, participated in qualitative (focus group discussions; open ended, in depth interviews) and quantitative (structured survey and hemoglobin estimation) research activities before and after intervention. Perceptions of mothers were also surveyed. The qualitative methods were used on selected subsamples in order to represent all age and ethnic groups and geographic areas of the slum. Quantitative methods were used on all 105 girls. The prevalence of anemia was 98%. The patterns of responses were similar for the focus groups, interviews, and surveys. Mothers and their daughters believed the girls were healthy (" one who ate well, worked without tiring easily and did not fall sick often"). There was no major connection made between menstruation and health, or between present and future health. Most of the girls were unaware of the Gujarati term for anemia, pandurog, which is used in awareness campaigns. The girls described symptoms (weakness = kamshakti) associated with anemia and knew these could be remedied with green leafy vegetables, fruit, milk, meat, tonics from the doctor, and iron tablets (shakti ni goli). Based on these results, a puppet show, using local terms and events, was developed that covered the causes, symptoms, treatment, and prevention of anemia. The term, pandurog, was introduced and reinforced. The girls were encouraged to have their blood tested and to take iron tablets. The hemoglobin levels of the girls were taken after the show and after an iron supplement program lasting three months. Compliance with the supplementation program was monitored biweekly. Group discussions with flash cards reinforced the information in the puppet show. Results from the last hemoglobin level showed a significant increase; however, the prevalence of anemia was 87%. About half of the girls consumed at least 60% of the tablets; one-fifth consumed 80%. Forgetfulness and fasting

Lay health workers perceptions of an anemia control intervention in Karnataka, India: a qualitative study.

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Shet, Arun S; Rao, Abha; Jebaraj, Paul; Mascarenhas, Maya; Zwarenstein, Merrick; Galanti, Maria Rosaria; Atkins, Salla

2017-09-18

Lay health workers (LHWs) are increasingly used to complement health services internationally. Their perceptions of the interventions they implement and their experiences in delivering community based interventions in India have been infrequently studied. We developed a novel LHW led intervention to improve anemia cure rates in rural community dwelling children attending village day care centers in South India. Since the intervention is delivered by the village day care center LHW, we sought to understand participating LHWs' acceptance of and perspectives regarding the intervention, particularly in relation to factors affecting daily implementation. We conducted a qualitative study alongside a cluster randomized controlled trial evaluating a complex community intervention for childhood anemia control in Karnataka, South India. Focus group discussions (FGDs) were conducted with trained LHWs assigned to deliver the educational intervention. These were complemented by non-participant observations of LHWs delivering the intervention. Transcripts of the FGDs were translated and analyzed using the framework analysis method. Several factors made the intervention acceptable to the LHWs and facilitated its implementation including pre-implementation training modules, intervention simplicity, and ability to incorporate the intervention into the routine work schedule. LHWs felt that the intervention impacted negatively on their preexisting workload. Fluctuating relationships with mothers weakened the LHWs position as providers of the intervention and hampered efficient implementation, despite the LHWs' highly valued position in the community. Modifiable barriers to the successful implementation of this intervention were seen at two levels. At a broader contextual level, hindering factors included the LHW being overburdened, inadequately reimbursed, and receiving insufficient employer support. At the health system level, lack of streamlining of LHW duties, inability of LHWs to

Iron-Deficiency Anemia

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Full Text Available ... Topics section only, or the News and Resources section. NHLBI Entire Site NHLBI Entire Site Health ... español Iron-deficiency anemia is a common type of anemia that occurs if you do not have enough iron in your body. People with mild or moderate iron-deficiency anemia ...

Fanconi anemia group A and C double-mutant mice: functional evidence for a multi-protein Fanconi anemia complex.

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Noll, Meenakshi; Battaile, Kevin P; Bateman, Raynard; Lax, Timothy P; Rathbun, Keany; Reifsteck, Carol; Bagby, Grover; Finegold, Milton; Olson, Susan; Grompe, Markus

2002-07-01

Fanconi anemia (FA) is a genetically heterogeneous disorder associated with defects in at least eight genes. The biochemical function(s) of the FA proteins are unknown, but together they define the FA pathway, which is involved in cellular responses to DNA damage and in other cellular processes. It is currently unknown whether all FA proteins are involved in controlling a single function or whether some of the FA proteins have additional roles. The aim of this study was 1) to determine whether the FA group A and group C genes have identical or partially distinct functions, and 2) to have a better model for human FA. We generated mice with a targeted mutation in fanca and crossed them with fancc disrupted animals. Several phenotypes including sensitivity to DNA cross linkers and ionizing radiation, hematopoietic colony growth, and germ cell loss were analyzed in fanca-/-, fancc-/-, fanca/fancc double -/-, and controls. Fibroblast cells and hematopoietic precursors from fanca/fancc double-mutant mice were not more sensitive to MMC than those of either single mutant. fanca/fancc double mutants had no evidence for an additive phenotype at the cellular or organismal level. These results support a model where both FANCA and FANCC are part of a multi-protein nuclear FA complex with identical function in cellular responses to DNA damage and germ cell survival.

Repair of UV-endonuclease-susceptible sites in the 7 complementation groups of xeroderma pigmentosum A through G

International Nuclear Information System (INIS)

Zelle, B.; Lohman, P.H.M.

1979-01-01

7 strains of human primary fibroblasts were chosen from the complementation groups A through G of xeroderma pigmentosum; these strains are UV-sensitive and deficient in excision repair of UV damage on the criterion of unscheduled DNA synthesis (UDS). They were compared with normal human fibroblasts and one xeroderma pigmentosum variant with regard to their capacity to remove pyrimidine dimers, induced in their DNA by UV at 253.7 nm. The XP variant showed a normal level of dimer removal, whereas 6 of the other XP strains had a greatly reduced capacity to remove this DNA damage, in agreement with their individual levels of UDS. Strain XP23OS (complementation group F), however, only showed a 20% reduction in the removal of dimers, which is much less than expected from the low level of UDS in this strain. (Auth.)

Refractory IgG Warm Autoimmune Hemolytic Anemia Treated with Eculizumab: A Novel Application of Anticomplement Therapy

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Kim Ma

2016-01-01

Full Text Available Warm autoimmune hemolytic anemia (wAIHA is the most common form of AIHA, with corticosteroids in first-line treatment resulting in a 60–80% response rate. Atypical wAIHA and IgG plus complement mediated disease have a higher treatment failure rate and higher recurrence rate. We report a case of severe wAIHA secondary to Waldenström macroglobulinemia with life threatening intravascular hemolysis refractory to prednisone, rituximab, splenectomy, and plasmapheresis. A four-week treatment of eculizumab in this heavily pretreated patient resulted in a sustained increase in hemoglobin and transfusion independence, suggesting a role for complement inhibition in refractory wAIHA.

Aplastic Anemia

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Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make ... blood cells. There are different types, including Fanconi anemia. Causes include Toxic substances, such as pesticides, arsenic, ...

A systematic analysis of global anemia burden from 1990 to 2010

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Jasrasaria, Rashmi; Naghavi, Mohsen; Wulf, Sarah K.; Johns, Nicole; Lozano, Rafael; Regan, Mathilda; Weatherall, David; Chou, David P.; Eisele, Thomas P.; Flaxman, Seth R.; Pullan, Rachel L.; Brooker, Simon J.; Murray, Christopher J. L.

2014-01-01

Previous studies of anemia epidemiology have been geographically limited with little detail about severity or etiology. Using publicly available data, we estimated mild, moderate, and severe anemia from 1990 to 2010 for 187 countries, both sexes, and 20 age groups. We then performed cause-specific attribution to 17 conditions using data from the Global Burden of Diseases, Injuries and Risk Factors (GBD) 2010 Study. Global anemia prevalence in 2010 was 32.9%, causing 68.36 (95% uncertainty interval [UI], 40.98 to 107.54) million years lived with disability (8.8% of total for all conditions [95% UI, 6.3% to 11.7%]). Prevalence dropped for both sexes from 1990 to 2010, although more for males. Prevalence in females was higher in most regions and age groups. South Asia and Central, West, and East sub-Saharan Africa had the highest burden, while East, Southeast, and South Asia saw the greatest reductions. Iron-deficiency anemia was the top cause globally, although 10 different conditions were among the top 3 in regional rankings. Malaria, schistosomiasis, and chronic kidney disease–related anemia were the only conditions to increase in prevalence. Hemoglobinopathies made significant contributions in most populations. Burden was highest in children under age 5, the only age groups with negative trends from 1990 to 2010. PMID:24297872

The Effects of Anemia on Pregnancy Outcome in Patients with Pyelonephritis

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Sarah K. Dotters-Katz

2013-01-01

Full Text Available Objective. Pyelonephritis is a common infectious morbidity of pregnancy. Though anemia is commonly associated with pyelonephritis, there are little data describing the effect of pyelonephritis with anemia on pregnancy outcomes. The purpose of this study was to further assess the association of anemia with infectious morbidity and pregnancy complications among women with pyelonephritis. Study Design. We conducted a retrospective cohort study of pregnant women admitted to Duke University Hospital between July 2006 and May 2012 with pyelonephritis. Demographic, laboratory, and clinical data from the subject’s pregnancy and hospitalizations were analyzed. Patients with pyelonephritis and anemia (a hematocrit < 32 were compared to those without anemia. Descriptive statistics were used to compare the two groups. Results. 114 pregnant women were admitted with pyelonephritis and 45 (39.5% had anemia on admission. There was no significant difference in age, race, preexisting medical conditions, or urine bacterial species between patients with anemia and those without. Women with anemia were more likely to deliver preterm (OR 3.3 (95% CI 1.07, 11.4, . When controlling for race and history of preterm delivery, women with anemia continued to have increased odds of preterm birth (OR 6.0, CI 1.4, 35, . Conclusion. Women with pyelonephritis and anemia are at increased risk for preterm delivery.

Subversion of complement by hematophagous parasites.

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Schroeder, Hélène; Skelly, Patrick J; Zipfel, Peter F; Losson, Bertrand; Vanderplasschen, Alain

2009-01-01

The complement system is a crucial part of innate and adaptive immunity which exerts a significant evolutionary pressure on pathogens. It has selected for those pathogens, mainly microorganisms but also parasites, that have evolved countermeasures. The characterization of how pathogens evade complement attack is a rapidly developing field of current research. In recent years, multiple complement evasion strategies have been characterized. In this review, we focus on complement escape mechanisms expressed by hematophagous parasites, a heterogeneous group of metazoan parasites that share the property of ingesting the whole blood of their host. Complement inhibition is crucial for parasite survival within the host tissue or to facilitate blood feeding. Finally, complement inhibition by hematophagous parasites may also contribute to their success as pathogen vectors.

[The significance of sickle cell anemia within the context of the Brazilian government's 'racial policies' (1995-2004)].

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Fry, Peter H

2005-01-01

This essay reflects on the social significance of growing interest in sickle cell anemia and other illnesses associated with the black body in Brazil. I explore the discursive network that has taken shape around the disease within the social context of its production. I first summarize anthropologist Melbourne Tapper's analysis of the United States program to fight sickle cell anemia in the 1970s, shortly after blacks attained victories in the civil rights movement. Tapper (1999) argues that one of the consequences of this policy was the creation of a responsible black citizenry. In the late 1990s, the Brazilian government developed a program (Programa de Anemia Falciforme) that counted on the heavy participation of black activists and that also contributed to the formation of a "responsible black community". My argument is that sickle cell anemia becomes much more than an illness to be eradicated. The discourse surrounding it is a powerful element in the process of naturalization of the "black race" (and, by logical and political complement, the "white race") in a country that until recently imagined itself a biologically and culturally hybrid nation.

Temporal trend of anemia among reproductive-aged women in India.

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Bharati, Susmita; Pal, Manoranjan; Som, Suparna; Bharati, Premananda

2015-03-01

Anemia is one of the major leading nutritional deficiencies in India, and the most vulnerable groups are preschool and adolescent children and pregnant and lactating women. The main objective of the study is to determine the temporal trend of anemia among reproductive-aged women of age 15-49 years. The study uses data from second and third rounds of the National Family Health Surveys (NFHS-2, 1998-1999, and NFHS-3, 2005-2006), conducted by the International Institute for Population Sciences. The dependent variable was the status of anemia of women. The determining variables were type of residence, age group, religion and castes, educational status, marital status, and household standard of living index. Anemia was most prevalent in the east zone for both the periods. The changes at the all India level were not much, but the north-east zone improved very well, whereas the south zone deteriorated drastically. The occurrence of severely anemic women in India varied between 1% and 2%. The highest prevalence rates were observed among women who were 15 to 24 years of age, illiterate, from non-Christian scheduled tribes (STs), unmarried, and whose standard of living was low. Rates of anemia have increased over time except in the case of Buddhists, Parsees, Jains, and the STs. From the viewpoint of our study, illiteracy and low standard of living may be the main causes of anemia among women in India. It is also necessary to take appropriate steps to curb anemia in women in their early adulthood. © 2012 APJPH.

C3 Glomerulopathy and Atypical Hemolytic Uremic Syndrome: Two Important Manifestations of Complement System Dysfunction

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Ravneet Bajwa

2018-02-01

Full Text Available The advances in our understanding of the alternative pathway have emphasized that uncontrolled hyperactivity of this pathway causes 2 distinct disorders that adversely impact the kidney. In the so-called atypical hemolytic uremic syndrome (aHUS, renal dysfunction occurs along with thrombocytopenia, anemia, and target organ injury to multiple organs, most commonly the kidney. On the other hand, in the so-termed C3 glomerulopathy, kidney involvement is not associated with thrombocytopenia, anemia, or other system involvement. In this report, we present 2 cases of alternative pathway dysfunction. The 60-year-old female patient had biopsy-proven C3 glomerulopathy, while the 32-year-old female patient was diagnosed with aHUS based on renal dysfunction, thrombocytopenia, anemia, and normal ADAMTS-13 level. The aHUS patient was successfully treated with the monoclonal antibody (eculizumab for complement blockade. The patient with C3 glomerulopathy did not receive the monoclonal antibody. In this patient, management focused on blood pressure and proteinuria control with an angiotensin-converting enzyme inhibitor. This article focuses on the clinical differences, pathophysiology, and treatment of aHUS and C3 glomerulopathy.

Severe Aplastic Anemia (SAA)

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... page Print this page My Cart Severe aplastic anemia (SAA) Severe aplastic anemia (SAA) is a disease ... leukemia (ALL) Other diseases What is severe aplastic anemia (SAA)? SAA is a bone marrow disease. The ...

Fanconi's Anemia Effect or Sickle Cell Anemia Effect: That is the Question.

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Unal, Sule; Chui, David H K; Gumruk, Fatma

2015-01-01

A 16-year-old boy who was diagnosed to have sickle cell anemia was referred to our center. The parental consanguinity, growth retardation and dysmorphic features prompted a search for possible Fanconi's Anemia (FA). The diepoxybutane (DEB) test was positive, confirming FA. The interaction of both diseases might account for his relatively mild phenotype in terms of both sickle cell anemia (or Hb S, HBB: c.20A > T) and FA. The high Hb F level that might be related to concomitant FA, may have caused a milder phenotype of sickle cell anemia, whereas nitric oxide (NO) depletion as a consequence of sickle cell anemia, may have caused a delay in the bone marrow failure of FA.

[Effectiveness of iron amino acid chelate versus ferrous sulfate as part of a food complement in preschool children with iron deficiency, Medellín, 2011].

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Rojas, Maylen Liseth; Sánchez, Juliana; Villada, Óscar; Montoya, Liliana; Díaz, Alejandro; Vargas, Cristian; Chica, Javier; Herrera, Ana Milena

2013-01-01

Iron depleted deposits are the first link in the chain of events leading to iron deficiency which is the most prevalent nutritional shortage and main cause of anemia worldwide. This situation can be prevented through food fortification. To compare the efficacy of amino acid chelate iron with ferrous sulfate as fortifier of a dietary complement in preschoolers with iron deficiency. This study was a blinded clinical trial with randomized groups. We analyzed 56 preschoolers with iron deficiency (ferritin children had respiratory tract infection, without statistical differences. Both compounds increased serum ferritin concentration, with a higher increase in those who were given milk with iron amino acid chelate. There were no differences in the adverse reactions and infections incidences between the groups.

Fanconi Anemia Research Fund

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... Support Publications Fundraising News What is the Fanconi Anemia Research Fund? Fanconi anemia is an inherited disease that can lead to ... population. Lynn and Dave Frohnmayer started the Fanconi Anemia Research Fund, in 1989 to find effective treatments ...

STUDY OF ANEMIA AMONG PROTEIN ENERGY MALNOURISHED CHILDREN IN MYSORE

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Nayana

2015-02-01

Full Text Available INTRODUCTION AND OBJECTIVES : Anemia in Protein energy malnutrition (PEM is common and its pathogenesis is multifactorial. Since the clinico - pathological patterns are reflected by their underlying etiopathogenic factors, it is important to study the associated morbidity and mortalit y and to establish their causes for an effective management. The purpose of the present study is to determine the prevalence, patterns, clinico - pathological and morphological types of anemia in protein energy malnutrition children. The objectives of the st udy are: (1 To study the clinico - pathological and morphological patterns of anemia in PEM children of age group 6 month – 5 years. (2 To assess the resultant morbidity and mortality. (3 To determine the ideal parameter for iron deficiency anemia. METHOD S: This study was conducted on 75 clinically diagnosed Protein energy malnutrition patients of age group 6 months to 5 years. Detailed clinical history elicitation and thorough clinical examination was performed. Peripheral smears of these patients were ex amined. The complete hemogram including reticulocyte count was done. The special investigations like bone marrow study, Hb electrophoresis, iron studies and stool examination were done whenever required. RESULTS: In our study, anemia in PEM affected female population more than the males of age 36 - 47 months. Most of children had Grade III PEM and Microcytic hypochromic anemia was most prevalent. Most of the children had Iron deficiency anemia. This study also indicated that Serum iron assay and TIBC are the better indicators of iron deficiency anemia in patients with PEM and it is the investigation of choice when compared to serum ferritin as it gets falsely elevated in these patients with infections confirmed by elevated CRP level. INTERPRETATION AND CONCLUS ION: Malnutrition, Infection and Anemia show a synergistic relationship. So it necessitates prompt screening and early diagnosis through proper

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.

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Taniguchi, Toshiyasu; Tischkowitz, Marc; Ameziane, Najim; Hodgson, Shirley V; Mathew, Christopher G; Joenje, Hans; Mok, Samuel C; D'Andrea, Alan D

2003-05-01

Ovarian tumor cells are often genomically unstable and hypersensitive to cisplatin. To understand the molecular basis for this phenotype, we examined the integrity of the Fanconi anemia-BRCA (FANC-BRCA) pathway in those cells. This pathway regulates cisplatin sensitivity and is governed by the coordinate activity of six genes associated with Fanconi anemia (FANCA, FANCC, FANCD2, FANCE, FANCF and FANCG) as well as BRCA1 and BRCA2 (FANCD1). Here we show that the FANC-BRCA pathway is disrupted in a subset of ovarian tumor lines. Mono-ubiquitination of FANCD2, a measure of the function of this pathway, and cisplatin resistance were restored by functional complementation with FANCF, a gene that is upstream in this pathway. FANCF inactivation in ovarian tumors resulted from methylation of its CpG island, and acquired cisplatin resistance correlated with demethylation of FANCF. We propose a model for ovarian tumor progression in which the initial methylation of FANCF is followed by FANCF demethylation and ultimately results in cisplatin resistance.

Socio-economic and demographic determinants of childhood anemia

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Sankar Goswmai

2015-09-01

Full Text Available Objective: To evaluate socio-economic and demographic determinants of anemia among Indian children aged 6–59 months. Methods: Statistical analysis was performed on the cross-sectional weighted sample of 40,885 children from 2005 to 2006 National Family Health Survey by using multinomial logistic regression to assess the significance of some risk factors in different degrees of child anemia. Anemia was diagnosed by World Health Organization (WHO cut-off points on hemoglobin level. Pearson's chi-squared test was applied to justify the associations of anemia with different categories of the study population. Results: The prevalence of anemia was 69.5%; 26.2% mild, 40.4% moderate, and 2.9% severe anemia. Overall prevalence rate, along with mild and moderate cases, showed an increasing trend up to 2 years of age and then decreased. Rural children had a higher prevalence rate. Of 28 Indian states in the study, 10 states showed very high prevalence, the highest being Bihar (77.9%. Higher birth order, high index of poverty, low level of maternal education, mother's anemia, non-intake of iron supplements during pregnancy, and vegetarian mother increased the risks of all types of anemia among children (p < 0.05. Christian population was at lower risk; and Scheduled Caste, Scheduled Tribe, and Other Backward Class categories were at higher risk of anemia. Conclusion: The results suggest a need for proper planning and implementation of preventive measures to combat child anemia. Economically under-privileged groups, maternal nutrition and education, and birth control measures should be priorities in the programs. Resumo: Objetivo: Avaliar os fatores socioeconômicos e demográficos determinantes de anemia em crianças indianas com idade de 6 a 59 meses. Métodos: A análise estatística foi realizada na amostra transversal ponderada de 40885 crianças da Pesquisa Nacional de Saúde da Família de 2005–2006, Governo da Índia, utilizando a técnica de

Posible participación del sistema complemento en el desarrollo de manifestaciones autoinmunes en la leucemia linfocítica crónica Possible role of the complement system in the development of autoimmune manifestations in chronic lymphocytic leukemias

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Rinaldo Villaescusa Blanco

2002-04-01

Full Text Available Se efectuó la medición de la actividad de la vía clásica, alternativa, factor B, factor D, así como la cuantificación de C1q, C3 y C4 del sistema complemento en 27 pacientes con leucemia linfocítica crónica de tipo B (LLC-B CD5+ estadificados en 2 grupos: 12 pacientes en fase poco avanzada de la enfermedad (estadios 0, I, II y 15 en fase avanzada (estadios III, IV. Se demostró una disminución de la actividad de la vía clásica y de la concentración de C1q y C4 en 10 pacientes en fase avanzada, 7 de los cuales tenían asociada una anemia hemolítica autoinmune (AHAI; en el grupo en fase poco avanzada de la enfermedad no se demostraron deficiencias de complemento ni manifestaciones autoinmunes. Los datos obtenidos sugieren la posible participación del sistema complemento en el mantenimiento de la tolerancia inmunológica, cuya ruptura pudiera provocar la síntesis de anticuerpos antieritrocitarios, y por lo tanto, la anemia hemolítica que se asocia en determinados pacientes en fase avanzada de la enfermedadThe measurement of the activity of the classical pathway, the alternative pathway, factor B, factor D, as well as the quantification of Clq, C3 and C4 of the complement system were made in 27 patients with type B chronic lymphocytic leukemia (CLL-B CD5+, classified into 2 groups: 12 patients at little advanced stage of the disease (stages 0, I, II and 15 patients at advanced stage (stages III, IV. It was proved that the activity of the classical pathway and the concentration of Clq and C4 lowered in 10 patients at advanced stage, 7 of them also had autoimmune hemolytic anemia. Neither complement deficiencies nor autoimmune manifestations were shown in the group of patients at little advanced stage of the disease. Collected data indicates the possible involvement of the complement system in keeping the immune tolerance, the rupture of which may cause the synthesis of anti-erythrocyte antibodies and thus, the hemolytic anemia that

Iron deficiency anemia and megaloblastic anemia in obese patients.

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Arshad, Mahmoud; Jaberian, Sara; Pazouki, Abdolreza; Riazi, Sajedeh; Rangraz, Maryam Aghababa; Mokhber, Somayyeh

2017-03-01

The association between obesity and different types of anemia remained uncertain. The present study aimed to assess the relation between obesity parameters and the occurrence of iron deficiency anemia and also megaloblastic anemia among Iranian population. This cross-sectional study was performed on 1252 patients with morbid obesity that randomly selected from all patients referred to Clinic of obesity at Rasoul-e-Akram Hospital in 2014. The morbid obesity was defined according to the guideline as body mass index (BMI) equal to or higher than 40 kg/m2. Various laboratory parameters including serum levels of hemoglobin, iron, ferritin, folic acid, and vitamin B12 were assessed using the standard laboratory techniques. BMI was adversely associated with serum vitamin B12, but not associated with other hematologic parameters. The overall prevalence of iron deficiency anemia was 9.8%. The prevalence of iron deficiency anemia was independent to patients' age and also to body mass index. The prevalence of vitamin B12 deficiency was totally 20.9%. According to the multivariable logistic regression model, no association was revealed between BMI and the occurrence of iron deficiency anemia adjusting gender and age. A similar regression model showed that higher BMI could predict occurrence of vitamin B12 deficiency in morbid obese patients. Although iron deficiency is a common finding among obese patients, vitamin B12 deficiency is more frequent so about one-fifth of these patients suffer vitamin B12 deficiency. In fact, the exacerbation of obesity can result in exacerbation of vitamin B12 deficiency.

Iron-Deficiency Anemia in Infancy and Social Emotional Development in Preschool-Aged Chinese Children

NARCIS (Netherlands)

Chang, S.; Wang, L.; Wang, Y.; Brouwer, I.D.; Kok, F.J.; Lozoff, B.; Chen, C.

2011-01-01

Objective: We aimed to compare affect and behavior of 3 groups of nonanemic 4-year-old children: children with iron-deficiency anemia (IDA) in infancy whose anemia was not corrected before 24 months (chronic IDA) (n = 27); children with IDA in infancy whose anemia was corrected before 24 months

Meta-analysis of Huangqi injection for the adjunctive therapy of aplastic anemia

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Zhu, Changtai; Gao, Yulu; Jiang, Ting; Hao, Cao; Gao, Zongshuai; Sun, Yongning

2015-01-01

Aplastic anemia therapy remains difficult, due to lack of effective treatment regimens. In recent years, Huangqi injection for the adjunctive therapy of aplastic anemia has been reported in many clinical trials. Considering that Huangqi injection may be a novel approach to aplastic anemia treatment, we conducted a meta-analysis of clinical controlled trials to assess the clinical value of Huangqi injection in the treatment of aplastic anemia. We searched the Chinese Biomedical Literature Database (CBM), China National Knowledge Infrastructure (CNKI), Chinese Scientific Journals Full-text Database (VIP), Wanfang Database, PubMed and EMBASE database to collect the data about the trials of Huangqi injection combined with androgens for treating aplastic anemia. A total of ten studies involving 720 patients with aplastic anemia were included in this study. The meta-analysis showed significant increases in the pool effectiveness rate, white blood cells (WBC), haematoglobin (Hb), platelets (PLT), and reticulocytes (Ret) between the experimental group versus the control group. No severe side effects were found in this study. However, the lower Jadad scores and asymmetric funnel plot degrades the validity of the meta-analysis as the clinical evidence. Therefore, Huangqi injection may significantly enhance the efficacy of androgens for aplastic anemia, suggesting that the novel approach of Chinese traditional medicine combined with Western medicine is promising. The exact outcome required confirmation with rigorously well-designed multi-center trials. PMID:26379817

CLINICO PATHOLOGICAL STUDY OF PATTERNS OF ANEMIA DURING PREGNANCY

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Chamakuri

2015-10-01

Full Text Available INTRODUCTION: Anemia is defined as haemoglobin level in the blood below the lower extreme of the normal range for the age and sex of the individual. According to WHO, in developing countries the prevalence of anemia among pregnant women averages 60%, ranging between 35 to 100% among different regions of the world. A hemoglobin concentration below 11.0g/dl or packed cell volume (PCV of less than 33.0% is regarded as anemia during pregnancy by the WHO. It occurs in 40 - 80% of the pregnant women. Iron and folic acid defici encies, malaria, intestinal parasitic infections and hemoglobinopathies are the principal causes of anemia in pregnancy. Predisposing factors include young age, grand multiparity, low socioeconomic status, illiteracy, ignorance and short intervals of pregn ancy. AIM AND OBJECTIVES: 1. To study various patterns of anemia in pregnant women having haemoglobin level < 11 gm%. 2. To determine the most common pattern of anemia in pregnancy based on red cell morphology. MATERIALS AND METHODS: This study is a prospe ctive study over a period of one year from September 2014 to August 2015 in the department of pathology, Andhra medical college, Visakhapatnam . The study was conducted on 120 pregnant women whose haemoglobin level is < 11 gm/dl. All the haemotological parameters & peripheral blood smear stained by Leishman’s stain were evaluated. Complete clinical & obstetric history was recorded. Socioeconomic status was also noted. RESULTS: Out of 120 cases of anemia, we found 47 patie nts (39.1% having dimorphic anemia, 36(30% – microcytic hypochromic anemia, 23(19.1% - normocytic hypochromic anemia, 11(9.16% - sickle cell anemia and 1(0.83% case of pancytopenia. Maximum cases were seen in the age group of 21 - 30 years. 52 cases (43. 3% were primigravida and remaining 68 cases (56.6% were gravida two to four. 20 cases (16.6% were diagnosed in the first trimester, 38 cases (31.6% in the second trimester & 62 cases (51.6s% in the

Prevalência de talassemias e hemoglobinas variantes em pacientes com anemia não ferropênica Prevalence of thalassemias and variant hemoglobins in patients with non-ferropenic anemia

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Sandrine C. Wagner

2005-03-01

Full Text Available Para estabelecer a freqüência de hemoglobinopatias e talassemias em pacientes com anemia não ferropênica foram estudados 58 casos de pacientes comprovadamente com anemia não ferropênica e 235 controles obtidos de pessoas sem anemia. Todas as amostras foram obtidas do Hospital de Clínicas de Porto Alegre (HCPA, RS, Brasil. As técnicas realizadas foram eletroforese em acetato de celulose, pH alcalino, pesquisa citológica de Hb H, HPLC, hemograma e ferritina. A análise dos dados realizada no grupo de pacientes com anemia não ferropênica demonstrou que 63,8% eram portadores de alguma forma de anemia hereditária: 25,9% de talassemia alfa heterozigota, 32,8% de talassemia beta heterozigota, 3,4% de heterozigose para hemoglobina S (Hb AS e 1,7% de homozigose para hemoglobina C (Hb CC. No grupo dos controles, foram identificados 14,1% de anemias hereditárias, sendo destas 11,5% de talassemia alfa, 0,9% de talassemia beta, 1,3% de heterozigose para hemoglobina S (Hb AS e 0,4% de heterozigose para hemoglobina C (Hb AC. Os resultados obtidos permitem concluir que a prevalência de talassemias e hemoglobinas variantes no grupo controle é coincidente com a descrita na literatura. Entretanto, a excepcional prevalência dessas hemopatias hereditárias em pessoas com anemia não ferropênica deve ser divulgada entre médicos e serviços de saúde dada a sua importância no diagnóstico definitivo de anemia e dos corretos procedimentos terapêuticos.To establish the frequency of hemoglobinopathies and thalassemias in patients with non-ferropenic anemia, 58 patients with confirmed non-ferropenic anemia and 235 non-anemic individuals (control group were studied. All samples were obtained from the Hospital de Clínicas de Porto Alegre (HCPA, Rio Grande do Sul, Brazil. The techniques used were Alkaline pH cellulose acetate electrophoresis and cytological screening of Hb, Hl, HPLC, hemogram and ferritin. The data analysis showed that 63% of the

Iron, Anemia, and Iron Deficiency Anemia among Young Children in the United States

OpenAIRE

Gupta, Priya M.; Perrine, Cria G.; Mei, Zuguo; Scanlon, Kelley S.

2016-01-01

Iron deficiency and anemia are associated with impaired neurocognitive development and immune function in young children. Total body iron, calculated from serum ferritin and soluble transferrin receptor concentrations, and hemoglobin allow for monitoring of the iron and anemia status of children in the United States. The purpose of this analysis is to describe the prevalence of iron deficiency (ID), anemia, and iron deficiency anemia (IDA) among children 1–5 years using data from the 2007–201...

Repair of ultraviolet radiation damage in xeroderma pigmentosum cells belonging to complementation group F

International Nuclear Information System (INIS)

Hayakawa, H.; Ishizaki, K.; Yagi, T.; Takebe, H.; Inoue, M.; Sekiguchi, M.; Kyoto Univ.

1981-01-01

DNA-repair characteristics of xeroderma pigmentosum belonging to complementation group F were investigated. The cells exhibited an intermediate level of repair as measured in terms of (1) disappearance of T4 endonuclease-V-susceptible sites from DNA, (2) formation of ultraviolet-induced strand breaks in DNA, and (3) ultraviolet-induced unscheduled DNA synthesis during post-irradiation incubation. The impaired ability of XP3YO to perform unscheduled DNA synthesis was restored, to half the normal level, by the concomitant treatment with T4 endonuclease V and ultraviolet-inactivated Sendai virus. It is suggested that xeroderma pigmentosum cells of group F may be defective, at least in part, in the incision step of excision repair. (orig.)

Frequency of anemia in chronic psychiatry patients

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Korkmaz S

2015-10-01

. Thus, the study concluded that it would be beneficial to consider the physical symptoms and to conduct the required examinations to determine anemia among this patient group. Keywords: anemia, hemoglobin, physical disease

Distribuição da anemia em pré-escolares do semi-árido da Bahia Distribution of anemia among preschool children from the semi-arid region of Bahia

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Ana Marlúcia O. Assis

1997-04-01

Full Text Available O objetivo desta investigação foi identificar a prevalência da anemia e alguns de seus potenciais determinantes em 754 crianças de áreas urbanas de sete municípios na região do semi-árido baiano. Hemoglobina foi determinada em 745 crianças de um a 72 meses de idade. Para o grupo etário de seis a 72 meses um valor de hemoglobina The objective of this survey was to determine the prevalence of anemia and potential determinants thereof in 754 children from urban areas of seven small towns in the semi-arid region of Bahia. Hemoglobin was measured in 745 children 1 to 72 months of age. For the 6-to-72 month-old group, hemoglobin < 11.0 g/dl was considered anemia (following WHO recommendations whereas <9.5 g/dl was considered severe anemia. The same cutoffs were used for children under 6 months, which are the same ones used in clinical-hematology. A mean hemoglobin of 12.1 g/dl was found, distributed differently according to age groups (p=0.001. The study found prevalences of 22.2 % for anemia and 5.8% for severe anemia, respectively. Occurrence of anemia varied significantly with age (p=0.001; the highest prevalence was 50.0% in children 12 to 23 months of age, followed by 29.9% in children below 12 months. The association of anemia with mother's education (controlled for age and per capita family income was not statistically significant.

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... your doctor may recommend you eat heart-healthy foods or control other conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen ...

Iron-Deficiency Anemia

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Full Text Available ... from developing iron-deficiency anemia. Foods that are good sources of iron include dried beans, dried fruits, eggs, lean red meat, ... signs of iron-deficiency anemia include: Brittle nails ...

Factores que inciden en la anemia ferropénica de la embarazada

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Odalis Rodríguez Ganen

2002-12-01

Full Text Available Se realizó un estudio transversal descriptivo en 292 gestantes del municipio Marianao, de ellas 145 anémicas (hemoglobina A descriptive cross-sectional study was conducted among 292 pregnant women from Marianao municipality, between March, 1999, and May, 2000. 145 of them had anemia (haemoglobin < 110 g/L and 147 had no anemia (control group. Haemoglobin at the beginning of pregnancy and from the 20th week of gestation on, variables associated with the "Prenatal" supplement and some pregestational and gestational epidemiologic factors influencing on iron-deficiency anemia, were evaluated. It was concluded that haemoglobin decreased significantly in both groups. The variables that influenced the most on the current haemoglobin of the group of anemic women were regular nutrition (78.6 %, the weeks of gestation with a higher percentage of iron-deficiency anemia between the 20th and the 34th week, parity and the intergenesic space under 2 years. Concerning the "Prenatal" supplement, the non systematic ingestion of it and the inadequate form and moment of administration had a marked influence.

Iron-Deficiency Anemia

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Full Text Available ... for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such ...

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... Hemophilia Pernicious Anemia Restless Legs Syndrome Von Willebrand Disease Other Resources NHLBI resources Your Guide to Anemia [PDF, 1.54MB] Cardiovascular Health Study Recipient Epidemiology Donor Studies (REDS) program ...

Sickle cell anemia

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Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease ... Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells ...

Exploiting Pre-rRNA Processing in Diamond Blackfan Anemia Gene Discovery and Diagnosis

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Farrar, Jason E.; Quarello, Paola; Fisher, Ross; O’Brien, Kelly A.; Aspesi, Anna; Parrella, Sara; Henson, Adrianna L.; Seidel, Nancy E.; Atsidaftos, Eva; Prakash, Supraja; Bari, Shahla; Garelli, Emanuela; Arceci, Robert J.; Dianzani, Irma; Ramenghi, Ugo; Vlachos, Adrianna; Lipton, Jeffrey M.; Bodine, David M.; Ellis, Steven R.

2014-01-01

Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single-copy deletions have been identified in 12 ribosomal protein genes in approximately 60% of DBA cases, with the genetic etiology unexplained in most remaining patients. Unlike many IBMFS, for which functional screening assays complement clinical and genetic findings, suspected DBA in the absence of typical alterations of the known genes must frequently be diagnosed after exclusion of other IBMFS. We report here a novel deletion in a child that presented such a diagnostic challenge and prompted development of a novel functional assay that can assist in the diagnosis of a significant fraction of patients with DBA. The ribosomal proteins affected in DBA are required for pre-rRNA processing, a process which can be interrogated to monitor steps in the maturation of 40S and 60S ribosomal subunits. In contrast to prior methods used to assess pre-rRNA processing, the assay reported here, based on capillary electrophoresis measurement of the maturation of rRNA in pre-60S ribosomal subunits, would be readily amenable to use in diagnostic laboratories. In addition to utility as a diagnostic tool, we applied this technique to gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene. PMID:25042156

The 57Co excretion and resorption test in the diagnosis of iron deficiency anemia

International Nuclear Information System (INIS)

Bekier, A.; Holdener, E.; Kantonsspital Sankt Gallen

1976-01-01

1971 Sorbie et al. described a simple 57 Co-excretion test (16) as an aid in the diagnosis of iron deficiency anemia. The authors found that renal excretion of a tracer dosis of 0,5 μCi 57 CoCl 2 was significantly elevated in patients with iron deficiency anemia (31% of the adminstered dose in 24 hours' urine) as compared with the controls (18%). Between 1972-1974 we performed the 57 Co-excretion test in 29 patients with different kind of anemia and in 10 healthy volunteers. The test was modified by measurement of the serum activity 1, 2, 3, 7, 11 and 24 hours after the oral administration of the test dosis. In all anemias as well as in the control group we found the maximum of serum activity three hours after the oral administration of the tracer. The three hours serum activity was elevated in patients with iron deficiency anemia (5.53%/l serum) as compared with the control group (1.92%/l) and renal, tumor and infectious anemia (1.20%/l) p 57 Co excretion was moderately elevated in most of the patients with iron deficiency anemia (average 31.5% 57 Co-activity in 24 hours' urine) in comparison to the healthy controls (average 25.30%). Contrary to the results obtained by Sorbie et al. we found a wide range of fluctuation of the Co-excretion test in each group of patients with a poor statistical significance of p > 0.05. (orig.) [de

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

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Avani Solanki

Full Text Available Fanconi anemia (FA, a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA molecular changes in 34 unrelated and 2 siblings of Indian patients with FA and have identified 26 different molecular changes of FANCA gene, of which 8 were novel mutations (a small deletion c.2500delC, 4 non-sense mutations c.2182C>T, c.2630C>G, c.3677C>G, c.3189G>A; and 3 missense mutations; c.1273G>C, c.3679 G>C, and c.3992 T>C. Among these only 16 patients could be assigned FA-A complementation group, because we could not confirm single exon deletions detected by MLPA or cDNA amplification by secondary confirmation method and due to presence of heterozygous non-pathogenic variations or heterozygous pathogenic mutations. An effective molecular screening strategy should be developed for confirmation of these mutations and determining the breakpoints for single exon deletions.

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

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Solanki, Avani; Mohanty, Purvi; Shukla, Pallavi; Rao, Anita; Ghosh, Kanjaksha; Vundinti, Babu Rao

2016-01-01

Fanconi anemia (FA), a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA molecular changes in 34 unrelated and 2 siblings of Indian patients with FA and have identified 26 different molecular changes of FANCA gene, of which 8 were novel mutations (a small deletion c.2500delC, 4 non-sense mutations c.2182C>T, c.2630C>G, c.3677C>G, c.3189G>A; and 3 missense mutations; c.1273G>C, c.3679 G>C, and c.3992 T>C). Among these only 16 patients could be assigned FA-A complementation group, because we could not confirm single exon deletions detected by MLPA or cDNA amplification by secondary confirmation method and due to presence of heterozygous non-pathogenic variations or heterozygous pathogenic mutations. An effective molecular screening strategy should be developed for confirmation of these mutations and determining the breakpoints for single exon deletions.

Vitamin Deficiency Anemia

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... are unique to specific vitamin deficiencies. Folate-deficiency anemia risk factors include: Undergoing hemodialysis for kidney failure. ... the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack of intrinsic factor. Most ...

Drug-induced immune hemolytic anemia

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Immune hemolytic anemia secondary to drugs; Anemia - immune hemolytic - secondary to drugs ... Drugs that can cause this type of hemolytic anemia include: Cephalosporins (a class of antibiotics), most common ...

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

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Wu, Weiqing; Liu, Yang; Zhou, Qinghua; Wang, Qin; Luo, Fuwei; Xu, Zhiyong; Geng, Qian; Li, Peining; Zhang, Hui Z; Xie, Jiansheng

2017-07-01

Fanconi Anemia (FA) is a rare genetically heterogeneous disorder with 17 known complement groups caused by mutations in different genes. FA complementation group L (FA-L, OMIM #608111) occurred in 0.2% of all FA and only eight mutant variants in the FANCL gene were documented. Phenotype and genotype correlation in FANCL associated FA is still obscure. Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. The patient's clinical course was typical for FA with progression to bone marrow failure, and death from acute myelomonocytic leukemia (AML-M4) at 9 years of age. Mutation analysis also detected a likely somatic c.2608G > A (p.Gly870Ser) in the SETBP1 gene. Consistent copy number losses of 7q and 18p and gains of 3q and 21q and accumulated non-clonal single cell chromosomal abnormalities were detected in blood leukocytes as her FA progressed. This is the first Chinese FA-L case caused by a novel FANCL mutation. The somatic gene mutation and copy number aberrations could be used to monitor disease progression and the clinical findings provide further information for genotype-phenotype correlation for FA-L. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Complement in patients receiving maintenance hemodialysis: functional screening and quantitative analysis

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Horikoshi Satoshi

2010-12-01

Full Text Available Abstract Background The complement system is vital for innate immunity and is implicated in the pathogenesis of inflammatory diseases and the mechanism of host defense. Complement deficiencies occasionally cause life-threatening diseases. In hemodialysis (HD patients, profiles on complement functional activity and deficiency are still obscure. The objectives of the present study were to measure the functional complement activities of the classical pathway (CP, lectin pathway (LP and alternative pathway (AP using a novel method and consequently to elucidate the rates of deficiencies among HD patients. Methods In the present study, 244 HD patients at one dialysis center and 204 healthy controls were enrolled. Functional complement activities were measured simultaneously using the Wielisa®-kit. The combination of the results of these three pathway activities allows us to speculate which candidate complement is deficient; subsequently, the deficient complement was determined. Results All three functional complement activities were significantly higher in the HD patients than in the control group (P ®-kit, 16 sera (8.8% with mannose-binding lectin (MBL deficiency, 1 serum (0.4% with C4 deficiency, 1 serum (0.4% with C9 deficiency, and 1 serum (0.4% with B deficiency were observed in the HD group, and 18 sera (8.8% with MBL deficiency and 1 serum (0.5% with B deficiency were observed in the control group. There were no significant differences in the 5-year mortality rate between each complement-deficient group and the complement-sufficient group among the HD patients. Conclusion This is the first report that profiles complement deficiencies by simultaneous measurement of functional activities of the three complement pathways in HD patients. Hemodialysis patients frequently suffer from infections or malignancies, but functional complement deficiencies do not confer additional risk of mortality.

Prevalence of Anemia and Hemoglobin Disorders Among School Children in Myanmar.

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Wah, Saw Thu; Yi, Yoon Shwe; Khin, Aye Aye; Plabplueng, Chotiros; Nuchnoi, Pornlada

2017-01-01

The prevalence of anemia is high in the population of Myanmar and hypochromic microcytic anemia (HMA) is predominant. The objective of our study was to determine the prevalence of anemia and causes of HMA among school children. A cross-sectional study was conducted on 239 children from Thanlyin and Insein Townships, Yangon Region, Myanmar. Complete blood count (CBC) and blood film morphology was examined on venous blood samples. Hypochromic microcytic anemia cases were subsequently analyzed for serum ferritin and cellulose acetate hemoglobin (Hb) electrophoresis. The prevalence of anemia was 46.4%; 27.6% had mild, while 18.8% had moderate anemia, and no case of severe anemia was detected. The mean Hb concentration was 11.7 ± 0.9 g/dL. The younger age group (8-11 years) had a significantly higher prevalence of anemia than the older age group (12-15 years) (p = 0.029). Blood film morphology revealed a 50.6% red blood cell (RBC) disorder; HMA was the most common type (70.2%). Out of 85 children with HMA, three children (3.5%) had iron deficiency and all had comorbidity with Hb AE (β A /β E ) (Hb E trait). Hemoglobin electrophoresis illustrated that Hb AA (β A /β A ) (31, 36.5%) and Hb AE (β A /β E ) trait (31, 36.5%) were the most common types followed by β-thalassemia (β-thal) trait (19, 22.3%) and Hb EE (β E /β E ) (homozygous Hb E; HBB: c.79G>A) (three, 3.5%). Hematocrit [or packed cell volume (PCV)], mean corpuscular volume (MCV), mean corpuscular Hb (MCH) and mean corpuscular Hb concentration (MCHC), showed a significant difference between Hb AE, Hb EE and β-thal trait (p = 0.029, 0.023, 0.015 and 0.01, respectively). Our findings will provide valuable information for the management of anemia in the Myanmar school-age population.

Thiamine– Responsive Megaloblastic Anemia Syndrome

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F Motavaselian

2009-01-01

Full Text Available Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI, diabetes mellitus (DM ,optic atrophy (OA and deafness (D. Neutropenia and thrombocytopenia are also present. We report a 7 month old girl with congenital macrocytic anemia; a rare clinical feature of Wolfram,s syndrome with increased plasma levels of blood glucose, both of which dramatically responded to administration of thiamine in large doses . The patient also had neurosensorial deafness, but no improvement was observed in the deafness. We presented the case because thiamine-responsive megaloblastic anemia is a rare clinical presentation of Wolfram syndrome and after institution of treatment with thiamine, the anemia and hyperglycemia returned to normal.

Índice de anisocitose eritrocitária (RDW: diferenciação das anemias microcíticas e hipocrômicas Red blood cell distribution width (RDW: differentiation of microcytic and hypochromic anemias

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Januária F. Matos

2008-04-01

microcytic and hypochromic anemias was evaluated in a group of 159 patients diagnosed as carriers of either iron deficiency anemia, β-thalassemia minor or chronic disease anemia. No difference was found for the red blood cell distribution width among the three groups of microcytic and hypochromic anemias indicating that this index is not a useful tool to distinguish among iron deficiency, β-thalassemia minor and chronic disease anemia.

Faktor Risiko yang Berhubungan dengan Kejadian Anemia pada Remaja Putri

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Mahmut Jaelani

2017-11-01

Full Text Available Teenage girls are one of the groups who are prone to anemia. Anemia in teenage girls is still a big public health problem because the prevalence is still ≥20% that is equal to 21,7%. This study aimed to examine the dominant factors associated with the incidence of anemia and determinants in teenage girls in MTsN 02 Kota Bengkulu with a cross-sectional design. The population was all female adolescents in MTsN 02 Kota Bengkulu and the sample was taken by using simple random sampling as much as 100 respondents taken from class VII and class VIII. The results showed that the anemia was 33.0% and there was a relationship between menstrual period (p=0,028, nutritional status (p=0,000, breakfast habits (p=0,000, iron intake (p=0,000, intake protein (p=0,017, consumption pattern of iron absorption inhibitor (p=0,045 and there was no significant correlation between maternal education level (p=0,265 with incidence of anemia in Young women at MTsN 02 Kota Bengkulu. Variable nutritional status is the most dominant associated anemia in young women.

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... may be diagnosed with iron-deficiency anemia if you have low iron or ferritin levels in your blood. More testing may be needed to rule out other types of anemia. Tests for gastrointestinal ...

A study of anemia among adolescent girls in eastern part of Nepal

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Piush Kanodia

2016-03-01

Full Text Available Background & Objectives: Anemia is a global health problem. About 40% of the world's population suffers from anemia and adolescence is one of the most vulnerable age group. Hence the objective of the study was to determine prevalence and distribution of anemia among adolescent girls in eastern part of Nepal.Materials & Methods: This cross sectional study was conducted in a Government School of Dharan over a period of one year. There were total 433 participants, whose clinical and demographic profile were recorded and analyzed. Hemoglobin estimation was done by using cyanmethaemoglobin method and anemia was defined as per WHO cut-off.Results: The overall prevalence of anemia was found to be 51.3%. Prevalence was significantly more in pre-menarche age and undernourished girls (p<0.05. However factors like diet (vegetarian/non-vegetarian, worm infestation and parental education did not have a significant impact on occurrence of anemia.Conclusion: Anemia is the major health problem among adolescent girls in eastern part Nepal with high prevalence rate and nutrition is one of the leading causative factors for anemia.JCMS Nepal. 2016;12(1:19-22.

Investigation of Fanconi anemia protein interactions by yeast two-hybrid analysis.

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Huber, P A; Medhurst, A L; Youssoufian, H; Mathew, C G

2000-02-05

Fanconi anemia is a chromosomal breakage disorder with eight complementation groups (A-H), and three genes (FANCA, FANCC, and FANCG) have been identified. Initial investigations of the interaction between FANCA and FANCC, principally by co-immunoprecipitation, have proved controversial. We used the yeast two-hybrid assay to test for interactions of the FANCA, FANCC, and FANCG proteins. No activation of the reporter gene was observed in yeast co-expressing FANCA and FANCC as hybrid proteins, suggesting that FANCA does not directly interact with FANCC. However, a high level of activation was found when FANCA was co-expressed with FANCG, indicating strong, direct interaction between these proteins. Both FANCA and FANCG show weak but consistent interaction with themselves, suggesting that their function may involve dimerisation. The site of interaction of FANCG with FANCA was investigated by analysis of 12 mutant fragments of FANCG. Although both N- and C-terminal fragments did interact, binding to FANCA was drastically reduced, suggesting that more than one region of the FANCG protein is required for proper interaction with FANCA. Copyright 2000 Academic Press.

Anemia of Chronic Disease and Iron Deficiency Anemia in Inflammatory Bowel Diseases: Pathophysiology, Diagnosis, and Treatment.

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Murawska, Natalia; Fabisiak, Adam; Fichna, Jakub

2016-05-01

Anemia coexists with inflammatory bowel disease (IBD) in up to two-thirds of patients, significantly impairing quality of life. The most common types of anemia in patients with IBD are iron deficiency anemia and anemia of chronic disease, which often overlap. In most cases, available laboratory tests allow successful diagnosis of iron deficiency, where difficulties appear, recently established indices such as soluble transferrin-ferritin ratio or percentage of hypochromic red cells are used. In this review, we discuss the management of the most common types of anemia in respect of the latest available data. Thus, we provide the mechanisms underlying pathophysiology of these entities; furthermore, we discuss the role of hepcidin in developing anemia in IBD. Next, we present the treatment options for each type of anemia and highlight the importance of individual choice of action. We also focus on newly developed intravenous iron preparations and novel, promising drug candidates targeting hepcidin. Concurrently, we talk about difficulties in differentiating between the true and functional iron deficiency, and discuss tools facilitating the process. Finally, we emphasize the importance of proper diagnosis and treatment of anemia in IBD. We conclude that management of anemia in patients with IBD is tricky, and appropriate screening of patients regarding anemia is substantial.

Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.

Science.gov (United States)

Zhu, Li; Zhai, Ya-Ling; Wang, Feng-Mei; Hou, Ping; Lv, Ji-Cheng; Xu, Da-Min; Shi, Su-Fang; Liu, Li-Jun; Yu, Feng; Zhao, Ming-Hui; Novak, Jan; Gharavi, Ali G; Zhang, Hong

2015-05-01

Complement activation is common in patients with IgA nephropathy (IgAN) and associated with disease severity. Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 deletion (CFHR3-1∆) as the top signal for copy number variation. In this study, to explore the clinical effects of variation in CFH, CFHR3, and CFHR1 on IgAN susceptibility and progression, we enrolled two populations. Group 1 included 1178 subjects with IgAN and available genome-wide association study data. Group 2 included 365 subjects with IgAN and available clinical follow-up data. In group 1, rs6677604 was associated with mesangial C3 deposition by genotype-phenotype correlation analysis. In group 2, we detected a linkage between the rs6677604-A allele and CFHR3-1∆ and found that the rs6677604-A allele was associated with higher serum levels of CFH and lower levels of the complement activation split product C3a. Furthermore, CFH levels were positively associated with circulating C3 levels and negatively associated with mesangial C3 deposition. Moreover, serum levels of the pathogenic galactose-deficient glycoform of IgA1 were also associated with the degree of mesangial C3 deposition in patients with IgAN. Our findings suggest that genetic variants in CFH, CFHR3, and CFHR1 affect complement activation and thereby, predispose patients to develop IgAN. Copyright © 2015 by the American Society of Nephrology.

Anemia of Chronic Liver Diseases

International Nuclear Information System (INIS)

Shin, Hyun Chung; Lee, Jhung Sang; Koh, Chang Soon; Lee, Mun Ho

1971-01-01

The pathogenetic mechanisms of anemia in patients with chronic liver disease were observed. Seventeen patients with moderate to advanced hepatic diseases were studied by various methods. Only patients without previous blood loss were included : 14 had cirrhosis, 2 had active chronic hepatitis, and one had inferior vena cava obstruction with associated liver cirrhosis. The followings were the results: 1. The anemia based on red blood cell count, Hb., and Ht. was found in 76.5-78.6% of the patients. 2. Red cell indices indicated that normo-macrocytic and normochromic anemia was present is the majority of the patients. 3. No evidence of megaloblastic anemia was found on the basis of the morphological examinations. 4. Serum iron, TIBC, % saturation and iron content in the bone marrow indicated that iron deficiency anemia was present in about half of the patients. 5. In the view of the erythrocyte dynamics, primary increase in the red cell destruction was ascribed to the cause of the anemia. 6. Decrease in the red cell survival time was not correlated with MCV, % saturation and S.L. ratio. Also, hemoglobin level was not correlated with MCV, % saturation and T 50 Cr. Therefore, multiple causes may be involved in the pathogenesis of the anemia. 7. Anemia as determined by the red cell volume was found in only 60% of the patients. It may be possible that hemodilutional anemia is present.

Iron-Deficiency Anemia

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Full Text Available ... deficiency anemia can cause serious complications, including heart failure and development delays in children. Explore this Health ... to iron-deficiency anemia include: End-stage kidney failure, where there is blood loss during dialysis. People ...

Iron-Deficiency Anemia

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Full Text Available ... deficiency anemia can cause serious complications, including heart failure and development delays in children. Explore this Health ... lead to iron-deficiency anemia include: End-stage kidney failure, where there is blood loss during dialysis. ...

Iron-Deficiency Anemia

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Full Text Available ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in ... Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical ...

Iron-Deficiency Anemia

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Full Text Available ... contribute to differences in disease severity and how patients respond to treatment. The NHLBI Strategic Vision highlights ... Anemia in Chronic Kidney Disease (National Institute of Diabetes and Digestive and Kidney Diseases) Avoiding Anemia (National ...

Iron-Deficiency Anemia

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Full Text Available ... to improve health through research and scientific discovery. Improving health with current research Learn about the following ... deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature ...

Iron-Deficiency Anemia

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Full Text Available ... with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, we are investigating how ... Anemia in Chronic Kidney Disease (National Institute of Diabetes and Digestive and Kidney Diseases) Avoiding Anemia (National ...

Iron-Deficiency Anemia

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Full Text Available ... iron-deficiency anemia. These conditions include: Intestinal and digestive conditions, such as celiac disease; inflammatory bowel diseases, ... iron-deficiency anemia , such as bleeding in the digestive or urinary tract or heavy menstrual bleeding, your ...

Iron-Deficiency Anemia

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Full Text Available ... mg and women need 18 mg. After age 51, both men and women need 8 mg. Pregnant ... for iron-deficiency anemia. Learn about exciting research areas that NHLBI is exploring about iron-deficiency anemia. ...

Iron-Deficiency Anemia

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Full Text Available ... heart failure . Increased risk of infections Motor or cognitive development delays in children Pregnancy complications, such as ... for iron-deficiency anemia. Learn about exciting research areas that NHLBI is exploring about iron-deficiency anemia. ...

Iron-Deficiency Anemia

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Full Text Available ... heavy menstrual periods. Individuals with a gene for hemophilia, including symptomatic female carriers who have heavy menstrual ... Heart-Healthy Lifestyle Changes Heart Failure Hemolytic Anemia Hemophilia Pernicious Anemia Restless Legs Syndrome Von Willebrand Disease ...

Iron-Deficiency Anemia

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Full Text Available ... conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen ... the size of your liver and spleen. Blood tests Based on results from blood tests to screen ...

Iron-Deficiency Anemia

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Full Text Available ... less than 12 g/dl for women is diagnostic of anemia. In iron-deficiency anemia, red blood ... both full-term and preterm infants. Look for Diagnosis will explain tests and procedures that your doctor ...

Iron-Deficiency Anemia

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Full Text Available ... iron-fortified foods that have iron added. Vegetarian diets can provide enough iron if you choose nonmeat ... Anemia in Chronic Kidney Disease (National Institute of Diabetes and Digestive and Kidney Diseases) Avoiding Anemia (National ...

Iron-Deficiency Anemia

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Full Text Available ... less than 12 g/dl for women is diagnostic of anemia. In iron-deficiency anemia, red blood ... physical exam, or order blood tests or other diagnostic tests. Physical exam Your doctor may ask about ...

Iron-Deficiency Anemia

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Full Text Available ... and pregnancy. Good sources of iron are meat, poultry, fish, and iron-fortified foods that have iron ... Anemia Restless Legs Syndrome Von Willebrand Disease Other Resources NHLBI resources Your Guide to Anemia [PDF, 1. ...

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Full Text Available ... learning how having iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

Side Effects: Anemia

Science.gov (United States)

Anemia is a side effect of cancer treatments, including chemotherapy and radiation therapy. It can make women and men feel fatigued, dizzy, and short of breath. Learn how to manage fatigue caused by anemia during cancer treatment.

Iron-Deficiency Anemia

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Full Text Available ... endoscopy or colonoscopy, to stop bleeding. Healthy lifestyle changes To help you meet your daily recommended iron ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in ...

Iron-Deficiency Anemia

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Full Text Available ... leaving cells where it is stored or from being absorbed in the duodenum, the first part of ... treatments for iron-deficiency anemia. Living With After being diagnosed with iron-deficiency anemia, it is important ...

Iron-Deficiency Anemia

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Full Text Available ... iron-deficiency anemia. Search the NIH Research Portfolio Online Reporting Tools (RePORT) to learn about research that ... iron-deficiency anemia in blood donors affects the quality of donated red blood cells, such as how ...

Cancer-related anemia

International Nuclear Information System (INIS)

Abdel-Rzaeq, Hikmat N.

2004-01-01

Anemia is the most common hematological abnormality in cancer patients is often under-recognized and undertreated. The pathogenesis of cancer anemia is complex and most of time multifactorial; involving factors related to the tumor itself or its therapy. While anemia can be present in a wide range of symptoms, involing almost every organ, it is beleived that it contributes much to cancer-related-fatigue, one of the most common symptoms in cancer patients. In addition there is increasing evidence to suggest that anemia is an independent factor adversely affecting tumor reponse and patient survival. While blood transfusion was the only option to treat cancer related anemia, the use of recombinant human erythropoietin (rHuEPO) is becomig the new standard of care, more so with the recent studies demonstrating the feasibility of a sigle weekly injection .Things are even getting better with the recent approval of a new form of rHuEPO; Darbepoetin an analogue with a 3-fold longer half-life. In addition to its effects in raising homoglobin, several well controlled studies demonstrated decrease in transfusion requirementsand better qualify of life assessed objectively using standard assesments scales. (author)

Iron deficiency or anemia of inflammation? : Differential diagnosis and mechanisms of anemia of inflammation.

Science.gov (United States)

Nairz, Manfred; Theurl, Igor; Wolf, Dominik; Weiss, Günter

2016-10-01

Iron deficiency and immune activation are the two most frequent causes of anemia, both of which are based on disturbances of iron homeostasis. Iron deficiency anemia results from a reduction of the body's iron content due to blood loss, inadequate dietary iron intake, its malabsorption, or increased iron demand. Immune activation drives a diversion of iron fluxes from the erythropoietic bone marrow, where hemoglobinization takes place, to storage sites, particularly the mononuclear phagocytes system in liver and spleen. This results in iron-limited erythropoiesis and anemia. This review summarizes current diagnostic and pathophysiological concepts of iron deficiency anemia and anemia of inflammation, as well as combined conditions, and provides a brief outlook on novel therapeutic options.

Anemia and its determinants among women of reproductive age of a slum in Kolkata: A focus group discussion among health workers in a slum of Kolkata

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Aparajita Dasgupta

2016-01-01

Full Text Available Context: Anemia is a major contributor to morbidity and mortality among women of reproductive age. Progress toward reducing the burden of anemia has been little despite efforts through decades. Aims: We conducted this study to unearth the microlevel determinants of anemia among women of reproductive age. Settings and Design: This qualitative study was conducted in Urban Health Centre (UHC, Chetla. Subjects and Methods: A focus group discussion was held among all the eight health staffs, who were involved in reproductive and child health-related service delivery under UHC, Chetla. Analysis Used: A thematic analysis of the transcript was performed. Results: We found that socioeconomic factors like poverty and social neglect, diet and nutrition related factors, lack of personal hygiene, and worm infestation contributed to the burden of anemia, and this was reinforced by factors related to service delivery, such as lack of supply of drugs and supplements, and inadequate training of health workers as well as poor media accountability. Conclusions: Because of easy reversibility and implementation, health service delivery-related issues should be addressed closely through monitoring and evaluation and appropriate and timely action should be taken to improve the effectiveness of the services.

Lack of evidence from studies of soluble protein fragments that Knops blood group polymorphisms in complement receptor-type 1 are driven by malaria.

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Patience B Tetteh-Quarcoo

Full Text Available Complement receptor-type 1 (CR1, CD35 is the immune-adherence receptor, a complement regulator, and an erythroid receptor for Plasmodium falciparum during merozoite invasion and subsequent rosette formation involving parasitized and non-infected erythrocytes. The non-uniform geographical distribution of Knops blood group CR1 alleles Sl1/2 and McC(a/b may result from selective pressures exerted by differential exposure to infectious hazards. Here, four variant short recombinant versions of CR1 were produced and analyzed, focusing on complement control protein modules (CCPs 15-25 of its ectodomain. These eleven modules encompass a region (CCPs 15-17 key to rosetting, opsonin recognition and complement regulation, as well as the Knops blood group polymorphisms in CCPs 24-25. All four CR1 15-25 variants were monomeric and had similar axial ratios. Modules 21 and 22, despite their double-length inter-modular linker, did not lie side-by-side so as to stabilize a bent-back architecture that would facilitate cooperation between key functional modules and Knops blood group antigens. Indeed, the four CR1 15-25 variants had virtually indistinguishable affinities for immobilized complement fragments C3b (K(D = 0.8-1.1 µM and C4b (K(D = 5.0-5.3 µM. They were all equally good co-factors for factor I-catalysed cleavage of C3b and C4b, and they bound equally within a narrow affinity range, to immobilized C1q. No differences between the variants were observed in assays for inhibition of erythrocyte invasion by P. falciparum or for rosette disruption. Neither differences in complement-regulatory functionality, nor interactions with P. falciparum proteins tested here, appear to have driven the non-uniform geographic distribution of these alleles.

Iron-Deficiency Anemia

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Full Text Available ... other conditions that can cause iron-deficiency anemia. Blood tests to screen for iron-deficiency anemia To screen ... check the size of your liver and spleen. Blood tests Based on results from blood tests to screen ...

Sickle cell anemia.

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ŘÍHOVÁ, Tereza

2013-01-01

This thesis is about the disease called sickle cell anemia, or drepanocytosis. In this thesis is described the history of the disease, pathophysiology, laboratory features, various clinical features, diferencial diagnosis, quality of life in sickle cell anemia and therapy.

Estimation of prevalence of anemia using WHO hemoglobin color scale among non pregnant females of urban slum

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Dhruvendra Pande

2014-01-01

Full Text Available Background: Nutritional anemia is a major public health problem worldwide particularly in developing countries among women of reproductive age. WHO Hemoglobin Color Scale is easy, quick and handy technique to estimate hemoglobin level at field. Objective: To find out prevalence of anemia using WHO hemoglobin color scale among the females of reproductive age group. To find out the most common signs and symptoms associated with anemia. To find out the causes associated with anemia among females. Material& Methods: A cross sectional study with written informed consent was conducted in 400 females of an urban slum area of Indore city. Females were selected using systematic random sampling method. All the females of reproductive age group were included in study. Level of hemoglobin was obtaining using WHO Hemoglobin color scale. A questionnaire was used during interpersonal interview of all the anemic females which was followed by clinical examination to assess signs and symptoms associated with anemia. The data was analyzed using Microsoft office excel sheet. Results: 61% of females of reproductive age group were found to be anemic by hemoglobin color scale. 54 % complained of frequent headache, 50 % of difficulty in breathing during normal work and 49.18% of reduced appetite. Conclusion: Anemia is found more in females of reproductive age group in urban slum. Most common symptoms associated with anemia are frequent headache, difficulty in breathing, weakness throughout day.

MRI evaluation of cranial bone marrow signal intensity and thickness in chronic anemia

International Nuclear Information System (INIS)

Yildirim, Tulin; Agildere, A. Muhtesem; Oguzkurt, Levent; Barutcu, Ozlem; Kizilkilic, Osman; Kocak, Rikkat; Alp Niron, Emin

2005-01-01

Background and purpose: The aim is to assess the magnetic resonance imaging (MRI) findings for cranial bone marrow (CBM) signal intensity and thickness in patients with chronic anemia and compared these with findings in healthy subjects. We also investigated the relationships between CBM changes and age, type of anemia (hemolytic versus non-hemolytic), and severity of anemia. Methods: We quantitatively evaluated CBM signal intensity and thickness on images from 40 patients with chronic anemia (20 with congenital hemolytic anemia (HA) and 20 with acquired anemia) and compared these to findings in 28 healthy subjects. The intensity of CBM relative to scalp, white matter (WM), gray matter (GM), and muscle intensity was also investigated in patients and subjects in the control group. The sensitivity and specificity of CBM hypointense to GM and CBM hypointense to WM as markers of anemia were evaluated. Relationships between age and CBM thickness/intensity, and between anemia severity (hemoglobin (Hb) level) and CBM thickness/intensity were evaluated. Results: Cranial bone marrow signal intensity was lower in the chronic anemia patients than in the controls (P 0.05 for both). There were no correlations between age and CBM intensity or thickness, or between anemia severity and CBM intensity or thickness. Conclusion: Patients with chronic anemia exhibit lower CBM signal intensity on MRI than healthy subjects. Patients with hemolytic anemia have thicker CBM than patients with non-hemolytic anemia or healthy individuals. Decreased CBM intensity may indicate that the patient has anemia, and increased CBM thickness may specifically point to hemolytic anemia. These MRI findings may signal the need for further evaluation for the clinician

Iron-Deficiency Anemia

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Full Text Available ... blocks the intestine from taking up iron. Other medical conditions Other medical conditions that may lead to iron-deficiency anemia ... daily amount of iron. If you have other medical conditions that cause iron-deficiency anemia , such as ...

Iron-Deficiency Anemia

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Full Text Available ... hemoglobin levels. This was associated with a greater risk of death even with mild anemia. Now, anemia in older adults is recognized as an important condition. NHLBI Small Business Program. Through the NHLBI Small Business Program , we ...

Iron-Deficiency Anemia

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Full Text Available ... loss and lead to iron-deficiency anemia. Common causes of blood loss that lead to iron-deficiency anemia include: Bleeding in your GI tract, from an ulcer, colon cancer, or regular use of medicines such as aspirin ...

Iron-Deficiency Anemia

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Full Text Available ... for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such as meat and fish, may result in ...

Iron-Deficiency Anemia

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Full Text Available ... even with mild anemia. Now, anemia in older adults is recognized as an important condition. NHLBI Small Business Program. Through the NHLBI Small Business Program , we fund research and development for domestic small businesses that have strong potential ...

Iron-Deficiency Anemia

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Full Text Available ... anemia. Return to Signs, Symptoms, and Complications to review signs and symptoms as well as complications from iron-deficiency ... NIH]) Heavy Menstrual Bleeding (Centers for Disease Control and ... Dietary Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library ...

Iron-Deficiency Anemia

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Full Text Available ... be at risk for iron-deficiency anemia. Lifestyle habits Certain lifestyle habits may increase your risk for iron-deficiency anemia, ... you are experiencing side effects such as a bad metallic taste, vomiting, diarrhea, constipation, or upset stomach. ...

Iron-Deficiency Anemia

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Full Text Available ... how we are using current research and advancing research to prevent iron-deficiency anemia. Participate in NHLBI Clinical Trials will explain our ongoing clinical studies that are investigating prevention strategies for iron-deficiency anemia. Signs, Symptoms, and Complications ...

ANEMIA IN HEMODIALYSIS PATIENTS: DIABETIC VS NON DIABETIC PATIENTS

Directory of Open Access Journals (Sweden)

SH SHAHIDI

2002-12-01

Full Text Available Introduction. One of the characteristic signs of uremic syndrome is anemia. One of major factors that affects on severity of anemia in ESRD is underlying diseas. The porpuse of this study is to compaire anemia between diabetic and non diabetic ESRD patients. Methods. In a case control study we compared the mean valuse of Hb, Het, MCV, MCH, MCHC, BUN, Cr and duration of dialysis between diabetic and nondiabetic patients on chronic hemodialyis. some variables (such as age, sex, use of erythropoietin, nonderolone decaonats, folic acid, ferrous sulfate, transfusion and blood loss in recent three months and acquired kidney cysts were matched between cases and controls. Results. Means of Hb were 9±1.3 and 8 ± 1.7 in diabetic and non diabetic patients (P<0.05. Mean corposcular volume in diabetic patients (91±3.1 fl was more higher than non diabetic ones (87.1 ± 8.9 (P < 0.05. Other indices had no differences between two groups (P > 0.05. Discussion. Severity of anemia in patients with diabetic nephropathy is milder that other patients with ESRD. So, Anemia as an indicator of chronocity of renal disease in diabetics is missleading.

Iron-Deficiency Anemia (For Parents)

Science.gov (United States)

... Videos for Educators Search English Español Iron-Deficiency Anemia KidsHealth / For Parents / Iron-Deficiency Anemia What's in ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

Anemia of Chronic Liver Diseases

Energy Technology Data Exchange (ETDEWEB)

Shin, Hyun Chung; Lee, Jhung Sang; Koh, Chang Soon; Lee, Mun Ho [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1971-09-15

The pathogenetic mechanisms of anemia in patients with chronic liver disease were observed. Seventeen patients with moderate to advanced hepatic diseases were studied by various methods. Only patients without previous blood loss were included : 14 had cirrhosis, 2 had active chronic hepatitis, and one had inferior vena cava obstruction with associated liver cirrhosis. The followings were the results: 1. The anemia based on red blood cell count, Hb., and Ht. was found in 76.5-78.6% of the patients. 2. Red cell indices indicated that normo-macrocytic and normochromic anemia was present is the majority of the patients. 3. No evidence of megaloblastic anemia was found on the basis of the morphological examinations. 4. Serum iron, TIBC, % saturation and iron content in the bone marrow indicated that iron deficiency anemia was present in about half of the patients. 5. In the view of the erythrocyte dynamics, primary increase in the red cell destruction was ascribed to the cause of the anemia. 6. Decrease in the red cell survival time was not correlated with MCV, % saturation and S.L. ratio. Also, hemoglobin level was not correlated with MCV, % saturation and T{sub 50} Cr. Therefore, multiple causes may be involved in the pathogenesis of the anemia. 7. Anemia as determined by the red cell volume was found in only 60% of the patients. It may be possible that hemodilutional anemia is present.

Higher prevalence of anemia among pregnant immigrant women compared to pregnant ethnic Danish women

DEFF Research Database (Denmark)

Nybo, Mads; Friis-Hansen, Lennart; Felding, Peter

2007-01-01

The aim of the study was to investigate whether the well-known high anemia prevalence in pregnant women from the eastern Mediterranean and Asian regions decreased when the women immigrated to a low-frequency region (Denmark). During 70 months, 1,741 pregnant immigrant women referred from primary...... status parameters were examined in the two groups. The prevalence of anemia was higher in the immigrant group (20.0%) compared to the Danish women (4.9%) (P ... indicated iron deficiency. Conclusively, the pregnant immigrant women had significantly higher prevalence of anemia compared to pregnant women of Danish origin. It indicates the need for an alternative routine screening procedure for this population group, which should also include nutritional counselling....

Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum

International Nuclear Information System (INIS)

Tanaka, K.; Satokata, I.; Ogita, Z.; Uchida, T.; Okada, Y.

1989-01-01

For isolation of the gene responsible for xeroderma pigmentosum (XP) complementation group A, plasmid pSV2gpt and genomic DNA from a mouse embryo were cotransfected into XP2OSSV cells, a group-A XP cell line. Two primary UV-resistant XP transfectants were isolated from about 1.6 X 10(5) pSV2gpt-transformed XP colonies. pSV2gpt and genomic DNA from the primary transfectants were again cotransfected into XP2OSSV cells and a secondary UV-resistant XP transfectant was obtained by screening about 4.8 X 10(5) pSV2gpt-transformed XP colonies. The secondary transfectant retained fewer mouse repetitive sequences. A mouse gene that complements the defect of XP2OSSV cells was cloned into an EMBL3 vector from the genome of a secondary transfectant. Transfections of the cloned DNA also conferred UV resistance on another group-A XP cell line but not on XP cell lines of group C, D, F, or G. Northern blot analysis of poly(A)+ RNA with a subfragment of cloned mouse DNA repair gene as the probe revealed that an approximately 1.0 kilobase mRNA was transcribed in the donor mouse embryo and secondary transfectant, and approximately 1.0- and approximately 1.3-kilobase mRNAs were transcribed in normal human cells, but none of these mRNAs was detected in three strains of group-A XP cells. These results suggest that the cloned DNA repair gene is specific for group-A XP and may be the mouse homologue of the group-A XP human gene

Iron-Deficiency Anemia

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Full Text Available ... if you are diagnosed with iron-deficiency anemia. Risk Factors You may have an increased risk for iron-deficiency anemia because of your age, ... or sex. Age You may be at increased risk for iron deficiency at certain ages: Infants between ...

Iron-Deficiency Anemia

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Full Text Available ... Are you curious about how inflammation from chronic diseases can cause iron-deficiency anemia? Read more When there is ... DBDR) is a leader in research on the causes, prevention, and treatment of blood diseases, including iron-deficiency anemia. Search the NIH Research ...

Iron-Deficiency Anemia

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Full Text Available ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature or very small newborns . In collaboration with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, we are investigating how ...

Iron-Deficiency Anemia

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Full Text Available ... iron supplements work best to treat iron-deficiency anemia in children who do not consume the daily recommended amount ... and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical ... Anemia Arrhythmia Blood Donation Blood Tests Blood ...

Iron-Deficiency Anemia

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Full Text Available ... stores are developed during the third trimester of pregnancy. Children between ages 1 and 2, especially if they drink a lot ... Resources NHLBI resources Your Guide to Anemia [PDF, ... (National Institute of Diabetes and Digestive and Kidney Diseases) Avoiding Anemia (National ...

Severe Anemia in Malawian Children

NARCIS (Netherlands)

Calis, J.C.J.; Kamija, S.P.; Faragher, E.B.; Brabin, B.J.; Bates, I.; Cuevas, L.E.; Haan, de R.J.; Phiri, A.I.; Malange, P.; Khoka, M.; Hulshof, P.J.M.; Lieshout, L.; Beld, M.G.H.M.; Teo, Y.Y.; Rockett, K.A.; Richardson, A.; Kwiatkowski, D.P.; Molyneux, M.E.; Hensbroek, van M.B.

2008-01-01

Background Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. Methods We conducted a case¿control study of 381 preschool children with severe anemia (hemoglobin concentration,

The Scl1 protein of M6-type group A Streptococcus binds the human complement regulatory protein, factor H, and inhibits the alternative pathway of complement.

Science.gov (United States)

Caswell, Clayton C; Han, Runlin; Hovis, Kelley M; Ciborowski, Pawel; Keene, Douglas R; Marconi, Richard T; Lukomski, Slawomir

2008-02-01

Non-specific activation of the complement system is regulated by the plasma glycoprotein factor H (FH). Bacteria can avoid complement-mediated opsonization and phagocytosis through acquiring FH to the cell surface. Here, we characterize an interaction between the streptococcal collagen-like protein Scl1.6 of M6-type group A Streptococcus (GAS) and FH. Using affinity chromatography with immobilized recombinant Scl1.6 protein, we co-eluted human plasma proteins with molecular weight of 155 kDa, 43 kDa and 38 kDa. Mass spectrometry identified the 155 kDa band as FH and two other bands as isoforms of the FH-related protein-1. The identities of all three bands were confirmed by Western immunoblotting with specific antibodies. Structure-function relation studies determined that the globular domain of the Scl1.6 variant specifically binds FH while fused to collagenous tails of various lengths. This binding is not restricted to Scl1.6 as the phylogenetically linked Scl1.55 variant also binds FH. Functional analyses demonstrated the cofactor activity of the rScl1.6-bound FH for factor I-mediated cleavage of C3b. Finally, purified FH bound to the Scl1.6 protein present in the cell wall material obtained from M6-type GAS. In conclusion, we have identified a functional interaction between Scl1 and plasma FH, which may contribute to GAS evasion of complement-mediated opsonization and phagocytosis.

Increased susceptibility of blood type O individuals to develop anemia in Plasmodium vivax infection.

Science.gov (United States)

Resende, Sarah Stela; Milagres, Vanessa Gonçalves; Chaves, Daniel Gonçalves; Fontes, Cor Jesus Fernandes; Carvalho, Luzia Helena; Sousa, Tais Nobrega; Brito, Cristiana Ferreira Alves de

2017-06-01

Plasmodium vivax has been reported to cause severe malaria, and one of the main resulting complications is anemia. Considering that P. vivax infects only young erythrocytes, anemia has been associated with the destruction of infected and non-infected erythrocytes. However, few studies have focused on understanding the relationship between the pathogenesis of P. vivax malaria and human genetic polymorphisms. Although ABO groups seem to influence the outcome of Plasmodium falciparum malaria, the association between P. vivax and ABO blood groups has been minimally investigated. Thus, we investigate the correlation between ABO blood groups and anemia induced by P. vivax infection. Five single nucleotide polymorphisms at the ABO gene were genotyped by PCR-RFLP and Real-Time PCR in P. vivax-infected subjects. The ABO blood types were associated with the hematological data of the patients. Our main finding was that type O infected-individuals showed lower levels of hemoglobin and hematocrit compared to type A-infected individuals. The correlation between ABO blood groups and hemoglobin levels remained significant when a multiple linear regression was applied with the possible confounding effects of clinical-epidemiologic variables taken into account. The finding that type O individuals have a higher frequency of anemia is a first step to understand the mechanisms involved in malaria anemia, which could be associated to increased destruction of type O erythrocytes. Copyright © 2017 Elsevier B.V. All rights reserved.

Anemia in the general population

DEFF Research Database (Denmark)

Martinsson, Andreas; Andersson, Charlotte; Andell, Pontus

2014-01-01

predictor of mortality, with the highest mortality observed for macrocytic anemia, which was less prevalent than microcytic and normocytic anemia. Dietary intake of iron and vitamin B12 were significantly lower and use of antithrombotic medications was significantly higher in subjects with anemia. The World...

Iron-Deficiency Anemia

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Full Text Available ... how having iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature or very small newborns . In collaboration with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, we are investigating how ...

Iron-Deficiency Anemia

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Full Text Available ... anemia, including: Vegetarian or vegan eating patterns. Not eating enough iron-rich foods, such as meat and fish, may result in ... deficiency anemia, your doctor may recommend heart-healthy eating and choosing iron-rich foods, especially during certain stages of life when more ...

Iron-Deficiency Anemia

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Full Text Available ... iron-deficiency anemia early in life affects later behavior, thinking, and mood during adolescence. Treating anemia in premature or very small newborns . In collaboration with the Eunice Kennedy Shriver National Institute of Child Health and Human Development, we are investigating how best to treat ...

Iron-Deficiency Anemia

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Full Text Available ... over 65 years of age had low hemoglobin levels. This was associated with a greater risk of death even with mild anemia. Now, anemia in older adults is recognized as an important condition. NHLBI Small Business Program. Through the NHLBI Small Business Program , we ...

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

Science.gov (United States)

Froese, D. Sean; Gravel, Roy A.

2010-01-01

Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment. PMID:21114891

Childhood anemia - A study in tribal area of Mohana block in Orissa

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Sahu T

2007-01-01

Full Text Available Background : Anemia is widely prevalent in India and affects both sexes and all age group. Although the National Anemia Prophylaxis Programme (NAPP has been set up in all states of the country since 1970, the benefits have not yet been appreciated in the target population. Objective : 1. To assess the prevalence of anemia and its severity in tribal children. 2. To find out age & sex wise distribution of Hb level in these children. 3. To explore different underlying factors of development of anemia. Methods : The present study is a cross sectional study conducted in tribal villages of Mohana block in Gajapati district of Orissa. A total of 599 tribal children in the age group 6 month - 14 years were recruited from August 2004 to February 2005. The study variables included age, sex, Hb level, food consumption and clinicoepidemiological factors which were analysed by simple proportion and Z test. Results : About 94% of under five children were found to be anemic and 8.8% of them were severely anemic. Almost all children of age group 5-14 years were anemic, amongst them 59.4% were moderately anemic and 5. 4% were severely anemic. There is no significant difference in mean Hb level between male and female in both the age groups. It was significantly more in the age group of 5-14 years. About 94% were taking food of low iron bioavailability. Pallor was found in 33.6% and H/O irregular fever in 28.7% of children. 26.9% children had splenomegaly. Only 2.3% children had taken IFA supplementation in last one year. Conclusions : Anemia is a major health problem in tribal children. Reorientation of primary health care functionaries to cover the children under NNAPP with the help of ICDS workers and school authorities.

Severe anemia in Malawian children

NARCIS (Netherlands)

Calis, Job C. J.; Phiri, Kamija S.; Faragher, E. Brian; Brabin, Bernard J.; Bates, Imelda; Cuevas, Luis E.; de Haan, Rob J.; Phiri, Ajib I.; Malange, Pelani; Khoka, Mirriam; Hulshof, Paul J. M.; van Lieshout, Lisette; Beld, Marcel G. H. M.; teo, Yik Y.; Rockett, Kirk A.; Richardson, Anna; Kwiatkowski, Dominic P.; Molyneux, Malcolm E.; Boele van Hensbroek, Michael

2008-01-01

Background Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. Methods We conducted a case-control study of 381 preschool children with severe anemia (hemoglobin concentration, <5.0 g per deciliter) and

Severe anemia in Malawian children

NARCIS (Netherlands)

Calis, Job Cj; Phiri, Kamija S.; Faragher, E. Brian; Brabin, Bernard J.; Bates, Imelda; Cuevas, Luis E.; de Haan, Rob J.; Phiri, Ajib I.; Malange, Pelani; Khoka, Mirriam; Hulshof, Paul Jm; van Lieshout, Lisette; Beld, Marcel Ghm; teo, Yik Y.; Rockett, Kirk A.; Richardson, Anna; Kwiatkowski, Dominic P.; Molyneux, Malcolm E.; van Hensbroek, Michaël Boele

2016-01-01

Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. We conducted a case-control study of 381 preschool children with severe anemia (hemoglobin concentration, <5.0 g per deciliter) and 757 preschool

Noninvasive molecular screening for oral precancer in Fanconi anemia patients.

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Smetsers, Stephanie E; Velleuer, Eunike; Dietrich, Ralf; Wu, Thijs; Brink, Arjen; Buijze, Marijke; Deeg, Dorly J H; Soulier, Jean; Leemans, C René; Braakhuis, Boudewijn J M; Brakenhoff, Ruud H

2015-11-01

LOH at chromosome arms 3p, 9p, 11q, and 17p are well-established oncogenetic aberrations in oral precancerous lesions and promising biomarkers to monitor the development of oral cancer. Noninvasive LOH screening of brushed oral cells is a preferable method for precancer detection in patients at increased risk for head and neck squamous cell carcinoma (HNSCC), such as patients with Fanconi anemia. We determined the prevalence of LOH in brushed samples of the oral epithelium of 141 patients with Fanconi anemia and 144 aged subjects, and studied the association between LOH and HNSCC. LOH was present in 14 (9.9%) nontransplanted patients with Fanconi anemia, whereas LOH was not detected in a low-risk group (n = 50, >58 years, nonsmoking/nonalcohol history) and a group with somewhat increased HNSCC risk (n = 94, >58 years, heavy smoking/excessive alcohol use); Fisher exact test, P = 0.023 and P = 0.001, respectively. Most frequent genetic alteration was LOH at 9p. Age was a significant predictor of LOH (OR, 1.13, P = 0.001). Five patients with Fanconi anemia developed HNSCC during the study at a median age of 39.6 years (range, 24.8-53.7). LOH was significantly associated with HNSCC (Fisher exact test, P = 0.000). Unexpectedly, the LOH assay could not be used for transplanted patients with Fanconi anemia because donor DNA in brushed oral epithelium, most likely from donor leukocytes present in the oral cavity, disturbed the analysis. Noninvasive screening using a LOH assay on brushed samples of the oral epithelium has a promising outlook in patients with Fanconi anemia. However, assays need to be adapted in case of stem cell transplantation, because of contaminating donor DNA. ©2015 American Association for Cancer Research.

Individualized anemia management reduces hemoglobin variability in hemodialysis patients.

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Gaweda, Adam E; Aronoff, George R; Jacobs, Alfred A; Rai, Shesh N; Brier, Michael E

2014-01-01

One-size-fits-all protocol-based approaches to anemia management with erythropoiesis-stimulating agents (ESAs) may result in undesired patterns of hemoglobin variability. In this single-center, double-blind, randomized controlled trial, we tested the hypothesis that individualized dosing of ESA improves hemoglobin variability over a standard population-based approach. We enrolled 62 hemodialysis patients and followed them over a 12-month period. Patients were randomly assigned to receive ESA doses guided by the Smart Anemia Manager algorithm (treatment) or by a standard protocol (control). Dose recommendations, performed on a monthly basis, were validated by an expert physician anemia manager. The primary outcome was the percentage of hemoglobin concentrations between 10 and 12 g/dl over the follow-up period. A total of 258 of 356 (72.5%) hemoglobin concentrations were between 10 and 12 g/dl in the treatment group, compared with 208 of 336 (61.9%) in the control group; 42 (11.8%) hemoglobin concentrations were hemoglobin concentrations were >12 g/dl in the treatment group compared with 46 (13.4%) in the control group. The median ESA dosage per patient was 2000 IU/wk in both groups. Five participants received 6 transfusions (21 U) in the treatment group, compared with 8 participants and 13 transfusions (31 U) in the control group. These results suggest that individualized ESA dosing decreases total hemoglobin variability compared with a population protocol-based approach. As hemoglobin levels are declining in hemodialysis patients, decreasing hemoglobin variability may help reduce the risk of transfusions in this population.

[Current insights into anemia in old age : Summary of the symposium "Anemia in old age" on the occasion of the annual congress of the German Society for Geriatrics (DGG) 2016 in Stuttgart].

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Röhrig, Gabriele; Gütgemann, Ines; von Gersdorff, Gero; Polidori, Maria Cristina; Lupescu, Adrian; Lang, Florian; Kolb, Gerald

2018-04-01

Anemia in advanced age is often a multifactorial condition requiring an interdisciplinary approach. The contributions to the opening interdisciplinary symposium on anemia in older subjects focused on physiological and histopathological as well as on nephrological and neurogeriatric aspects and on the therapeutic implications of this underdiagnosed, yet highly frequent disease. The symposium was the kick-off event for the founding of the German Geriatric Society special interest group on anemia in advanced age.

Fanconi Anemia and Laron Syndrome.

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Castilla-Cortazar, Inma; de Ita, Julieta Rodriguez; Aguirre, Gabriel Amador; Castorena-Torres, Fabiola; Ortiz-Urbina, Jesús; García-Magariño, Mariano; de la Garza, Rocío García; Diaz Olachea, Carlos; Elizondo Leal, Martha Irma

2017-05-01

Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature. Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed. In addition, we used a next-generation sequencing approach for a molecular evaluation of FA disease-causing mutations and genes involved in the GH-IGF signaling pathway. Tests revealed low levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as well as a lack of response to GH stimulation. Sequencing confirmed a defect in the GH receptor signaling pathway. To the best of our knowledge, this study is the first to suggest an association between FA and LS. We propose that IGF-1 administration might improve some FA complications and functions based upon IGF-1 beneficial actions observed in animal, cell and indirect clinical models: erythropoiesis modulation, immune function improvement and metabolic regulation. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... also are hoping to determine which iron supplements work best to treat iron-deficiency anemia in children who do not consume the daily recommended amount of iron. Read less Participate in NHLBI Clinical Trials We lead or sponsor many studies related to iron-deficiency anemia. See if you ...

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... Precision Medicine Activities Obesity, Nutrition, and Physical Activity Population and Epidemiology Studies Women’s Health All Science A- ... to help your body absorb iron. Avoid drinking black tea, which reduces iron ... was associated with a greater risk of death even with mild anemia. Now, anemia in older ...

Anemia and iron deficiency in Mexican elderly population. Results from the Ensanut 2012

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Alejandra Contreras-Manzano

2015-09-01

Full Text Available Objective. To describe de prevalence of iron deficiency (ID and anemia in a sample of Mexican elderly population from the National Health and Nutrition Survey (Ensanut 2012. Materials and methods. 1 920 subjects ≥60 years of age were included. Hemoglobin, serum concentrations of ferritin and CRP were measured. The risk for ID and anemia adjusted for potential confounders was assessed in logistic regression models. Results. The overall prevalence of anemia was 13.9%, 15.2% in males and 12.8% females. For ID,overall it was 4.2%, males 4.0% and females 4.3%. The greatest prevalence of ID was found in males and females over 80 years old (6.9 and 7.0%, respectively. ID was present in 1.5 of 10 Mexican elders with anemia. Conclusion. The prevalence of anemia was high in the elderly, however the prevalence of ID was low; there is a need to further investigate the causes of anemia in this age group.

Anemia and iron deficiency in Mexican elderly population: Results from the Ensanut 2012.

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Contreras-Manzano, Alejandra; Cruz, Vanessa de la; Villalpando, Salvador; Rebollar, Rosario; Shamah-Levy, Teresa

2015-01-01

To describe de prevalence of iron deficiency (ID) and anemia in a sample of Mexican elderly population from the National Health and Nutrition Survey (Ensanut) 2012. 1 920 subjects ≥60 years of age were included. Hemoglobin, serum concentrations of ferritin and CRP were measured. The risk for ID and anemia adjusted for potential confounders was assessed in logistic regression models. The overall prevalence of anemia was 13.9%, 15.2% in males and 12.8% females. For ID, overall it was 4.2%, males 4.0% and females 4.3%. The greatest prevalence of ID was found in males and females over 80 years old (6.9 and 7.0%, respectively). ID was present in 1.5 of 10 Mexican elders with anemia. The prevalence of anemia was high in the elderly, however the prevalence of ID was low; there is a need to further investigate the causes of anemia in this age group.

Defective FANCI binding by a fanconi anemia-related FANCD2 mutant.

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Koichi Sato

Full Text Available FANCD2 is a product of one of the genes associated with Fanconi anemia (FA, a rare recessive disease characterized by bone marrow failure, skeletal malformations, developmental defects, and cancer predisposition. FANCD2 forms a complex with FANCI (ID complex and is monoubiquitinated, which facilitates the downstream interstrand crosslink (ICL repair steps, such as ICL unhooking and nucleolytic end resection. In the present study, we focused on the chicken FANCD2 (cFANCD2 mutant harboring the Leu234 to Arg (L234R substitution. cFANCD2 L234R corresponds to the human FANCD2 L231R mutation identified in an FA patient. We found that cFANCD2 L234R did not complement the defective ICL repair in FANCD2-/- DT40 cells. Purified cFANCD2 L234R did not bind to chicken FANCI, and its monoubiquitination was significantly deficient, probably due to the abnormal ID complex formation. In addition, the histone chaperone activity of cFANCD2 L234R was also defective. These findings may explain some aspects of Fanconi anemia pathogenesis by a FANCD2 missense mutation.

The Fanconi anemia ortholog FANCM ensures ordered homologous recombination in both somatic and meiotic cells in Arabidopsis.

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Knoll, Alexander; Higgins, James D; Seeliger, Katharina; Reha, Sarah J; Dangel, Natalie J; Bauknecht, Markus; Schröpfer, Susan; Franklin, F Christopher H; Puchta, Holger

2012-04-01

The human hereditary disease Fanconi anemia leads to severe symptoms, including developmental defects and breakdown of the hematopoietic system. It is caused by single mutations in the FANC genes, one of which encodes the DNA translocase FANCM (for Fanconi anemia complementation group M), which is required for the repair of DNA interstrand cross-links to ensure replication progression. We identified a homolog of FANCM in Arabidopsis thaliana that is not directly involved in the repair of DNA lesions but suppresses spontaneous somatic homologous recombination via a RecQ helicase (At-RECQ4A)-independent pathway. In addition, it is required for double-strand break-induced homologous recombination. The fertility of At-fancm mutant plants is compromised. Evidence suggests that during meiosis At-FANCM acts as antirecombinase to suppress ectopic recombination-dependent chromosome interactions, but this activity is antagonized by the ZMM pathway to enable the formation of interference-sensitive crossovers and chromosome synapsis. Surprisingly, mutation of At-FANCM overcomes the sterility phenotype of an At-MutS homolog4 mutant by apparently rescuing a proportion of crossover-designated recombination intermediates via a route that is likely At-MMS and UV sensitive81 dependent. However, this is insufficient to ensure the formation of an obligate crossover. Thus, At-FANCM is not only a safeguard for genome stability in somatic cells but is an important factor in the control of meiotic crossover formation.

Severe anemia in Malawian children.

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Calis, Job Cj; Phiri, Kamija S; Faragher, E Brian; Brabin, Bernard J; Bates, Imelda; Cuevas, Luis E; de Haan, Rob J; Phiri, Ajib I; Malange, Pelani; Khoka, Mirriam; Hulshof, Paul Jm; van Lieshout, Lisette; Beld, Marcel Ghm; Teo, Yik Y; Rockett, Kirk A; Richardson, Anna; Kwiatkowski, Dominic P; Molyneux, Malcolm E; van Hensbroek, Michaël Boele

2016-09-01

Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. We conducted a case-control study of 381 preschool children with severe anemia (hemoglobin concentration, <5.0 g per deciliter) and 757 preschool children without severe anemia in urban and rural settings in Malawi. Causal factors previously associated with severe anemia were studied. The data were examined by multivariate analysis and structural equation modeling. Bacteremia (adjusted odds ratio, 5.3; 95% confidence interval [CI], 2.6 to 10.9), malaria (adjusted odds ratio, 2.3; 95% CI, 1.6 to 3.3), hookworm (adjusted odds ratio, 4.8; 95% CI, 2.0 to 11.8), human immunodeficiency virus infection (adjusted odds ratio, 2.0; 95% CI, 1.0 to 3.8), the G6PD -202/-376 genetic disorder (adjusted odds ratio, 2.4; 95% CI, 1.3 to 4.4), vitamin A deficiency (adjusted odds ratio, 2.8; 95% CI, 1.3 to 5.8), and vitamin B 12 deficiency (adjusted odds ratio, 2.2; 95% CI, 1.4 to 3.6) were associated with severe anemia. Folate deficiency, sickle cell disease, and laboratory signs of an abnormal inflammatory response were uncommon. Iron deficiency was not prevalent in case patients (adjusted odds ratio, 0.37; 95% CI, 0.22 to 0.60) and was negatively associated with bacteremia. Malaria was associated with severe anemia in the urban site (with seasonal transmission) but not in the rural site (where malaria was holoendemic). Seventy-six percent of hookworm infections were found in children under 2 years of age. There are multiple causes of severe anemia in Malawian preschool children, but folate and iron deficiencies are not prominent among them. Even in the presence of malaria parasites, additional or alternative causes of severe anemia should be considered.

Estimation of prevalence of Anemia using WHO hemoglobin color scale among Non pregnant females of urban slum

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Satish Saroshe

2014-05-01

Full Text Available Background: Nutritional anemia is a major public health problem worldwide particularly in developing countries among women of reproductive age. WHO Hemoglobin Color Scale is easy, quick and handy technique to estimate hemoglobin level at field. Objective: To find out prevalence of anemia using WHO hemoglobin color scale among the females of reproductive age group. To find out the most common signs and symptoms associated with anemia. To find out the causes associated with anemia among females. Material& Methods: A cross sectional study with written informed consent was conducted in 400 females of an urban slum area of Indore city. Females were selected using systematic random sampling method. All the females of reproductive age group were included in study. Level of hemoglobin was obtaining using WHO Hemoglobin color scale. A questionnaire was used during interpersonal interview of all the anemic females which was followed by clinical examination to assess signs and symptoms associated with anemia. The data was analyzed using Microsoft office excel sheet. Results: 61% of females of reproductive age group were found to be anemic by hemoglobin color scale. 54 % complained of frequent headache, 50 % of difficulty in breathing during normal work and 49.18% of reduced appetite. Conclusion: Anemia is found more in females of reproductive age group in urban slum. Most common

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... grams per deciliter (g/dl) for men and less than 12 g/dl for women is diagnostic of anemia. In iron-deficiency anemia, ... blood levels of iron will be low, or less than 10 micromoles per liter (mmol/L) for both men and women. Normal levels are 10 to 30 mmol/L. ...

Anemia in the Newborn

Science.gov (United States)

... Overview of Horseshoe Kidney Additional Content Medical News Anemia in the Newborn By Andrew W. Walter, MS ... for the Professional Version Blood Problems in Newborns Anemia in the Newborn Hemolytic Disease of the Newborn ...

The Karnataka Anemia Project 2--design and evaluation of a community-based parental intervention to improve childhood anemia cure rates: study protocol for a cluster randomized controlled trial.

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Shet, Arun S; Zwarenstein, Merrick; Mascarenhas, Maya; Risbud, Arvind; Atkins, Salla; Klar, Neil; Galanti, Maria Rosaria

2015-12-30

Childhood anemia is highly prevalent worldwide. Improving the hemoglobin level of preschool age children could yield substantial benefits in cognitive and psychosocial development and overall health. While evidence-based recommendations for reducing childhood anemia in high anemia prevalence countries are available, there is no experimental evidence of community centered education and counseling programs, as a route to improved acceptance of iron supplements, demonstrating beneficial effects on anemia outcomes. We report on the evaluation protocol of a complex educational intervention led by the community lay health worker (LHW) and delivered to mothers of 12-59-month-old anemic children living in and visiting village day care centers in a large district of southern India. The study is designed as a cluster randomized controlled trial. The intervention is based on the social cognitive theory and aims to promote among mothers, anemia awareness, dietary modifications to increase iron intake in the child, and recognition of the need for enhanced adherence to supplemental iron in the anemic child. From 270 eligible villages in the study area, a sample of 60 villages will be randomized to intervention [n = 30] or to treatment as usual [n = 30] of the study. LHWs in the intervention arm will be trained to administer the following intervention components to mothers of anemic children: 1] monthly distribution of Iron and folic acid (IFA) supplements to mothers of anemic children, and 2] five monthly counseling sessions of mothers of anemic children covering: a] anemia awareness education b] IFA adherence counseling and assessment, c] dietary modification to improve iron intake, and d] hygiene and sanitation. LHWs in the control arm will distribute IFA to mothers of anemic children as in the intervention arm but will not provide monthly education and counseling support. The primary outcome is the difference between the two experimental groups in anemia cure rates of

Effect of anemia on tumor radiosensitivity under normo and hyperbaric conditions

International Nuclear Information System (INIS)

Rojas, A.; Stewart, F.A.; Smith, K.A.; Soranson, J.A.; Randhawa, V.S.; Stratford, M.R.; Denekamp, J.

1987-01-01

The effect of chronic anemia on tumor radiosensitivity in a murine tumor has been investigated. Anemia was induced by bilateral kidney irradiation given several months before tumor implantation. Anemic, anemic transfused, and normal non-anemic age-matched tumor bearing animals were irradiated with X rays (2 F/24 hr) either in air, air plus misonidazole, or under hyperbaric oxygen. The most resistant response was that of tumors grown in normal mice treated in air. Anemia produced an increase in radiosensitivity which was further enhanced by red blood cell replacement. The most sensitive overall response was seen in the anemic-transfused group treated with HBO

Genetics Home Reference: Diamond-Blackfan anemia

Science.gov (United States)

... Home Health Conditions Diamond-Blackfan anemia Diamond-Blackfan anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Diamond-Blackfan anemia is a disorder of the bone marrow . The ...

Socio‐economic and demographic determinants of childhood anemia

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Sankar Goswmai

2015-09-01

Conclusion: The results suggest a need for proper planning and implementation of preventive measures to combat child anemia. Economically under‐privileged groups, maternal nutrition and education, and birth control measures should be priorities in the programs.

Megaloblastic anemia - A clinical spectrum and a hematological profile: The day-to-day public health problem

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S Srikanth

2016-01-01

Full Text Available Aims and Objectives: To know the various parameters and diagnostic approach of megaloblastic anemia. To know the age incidence and sex ratio. Materials and Methods: A hospital-based retrospective and prospective study was done for a period of 1-year. Totally, 21 cases were analyzed, and we correlated signs, symptoms, and hematological investigations. Results: Totally, 21 children with megaloblastic anemia in the above said period were studied. The patients age group was ranged from 2 months to 15 years. Megaloblastic anemia was observed in all the cases. Conclusion: Megaloblastic anemia is one of the common causes of undiagnosed anemia, and the treatment is simple and easily affordable. If left untreated, it can lead to morbidity both because of anemia and attendant neurological involvement.

Anemia em crianças indígenas da etnia Karapotó Anemia in indigenous children of Karapotó ethnic backgrounds

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Janaína Ferro Pereira

2012-12-01

, those that spent less studying time with their mother, a large number of family members, those with fewer personal possessions and those that lived outside the group's home area or village ("desaldeados". CONCLUSIONS: the results show that anemia is a serious health problem among Karapotó children, especially the "desaldeados", coinciding with problems of childhood obesity and stunted growth.

Prevalencia de la anemia ferropénica en mujeres embarazadas

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Francisca Rosa Sánchez Salazar

2001-02-01

Full Text Available Con el objetivo de identificar la prevalencia de la anemia por deficiencia de hierro, se estudió en la consulta de nutrición del Hospital Docente Ginecoobstétrico "Eusebio Hernández", desde enero de 1993 a diciembre de 1999 a 11 904 gestantes; de ellas 5 169 eran portadoras de anemia ferropénica. La prevalencia alcanzó el 43,1 % y el grupo de edad más vulnerable fue el de 20 a 24 años. Las gestantes con bajo peso preconcepcional y las comprendidas entre las 14 y 23 semanas de gestación fueron las más afectadas. La anemia de mayor prevalencia fue la leve, y representó el 75,8 %, mientras que las variables maternas más involucradas fueron: los deficientes hábitos alimentarios, la hiperemesis gravídica y los antecedentes de 3 o más abortos. Este estudio evidenció la magnitud y el grado de severidad de la anemia ferropénica en las gestantes atendidasIn order to identify the prevalence of iron-deficiency anemia, 11 904 pregnant women were studied at the nutrition consulting room of "Eusebio Hernández" Gynecoobstetric Hospital from January, 1993, to December, 1999. 5 169 of them were carriers of iron-deficiency anemia. There was a prevalence of 43,1 % and the age group 20-24 was the most vulnerable. The expectants with low preconceptional weight as well as those between the 14th and the 23rd week were the most affected. Mild anemia prevailed and accounted for 75,8 %, whereas the most involved maternal variables were: deficient food habits, hyperemesis gravidis and history of 3 or more abortions. This study proved the magnitude and degree of iron-deficiency anemia of the pregnant women that were attended

Slow hematological recovery in children with IBD-associated anemia in cases of "expectant management".

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Pels, Lise P M; Van de Vijver, Els; Waalkens, Herman J; Uitentuis, Jan; JGonera-de ong, Gieneke; van Overbeek, Lidy A T; Norbruis, Obbe F; Rings, Edmond H H M; van Rheenen, Patrick F

2010-12-01

Allowing children with inflammatory bowel disease (IBD) to live with subnormal hemoglobin (Hb) levels affects their quality of life. The therapeutic approach to normalize Hb varies according to the cause of IBD-associated anemia. In exclusive iron-deficiency anemia (IDA) repletion of iron stores is obligatory, whereas controlling inflammation is the treatment of choice for anemia of chronic disease (ACD). In daily practice the focus is on control of intestinal inflammation, and spontaneous hematological recovery is awaited. The aim of the present study was to evaluate the hematological effect of "expectant management" on newly diagnosed pediatric patients with IBD with anemia. Medical records of children with IBD were reviewed. Study endpoints were the difference in Hb from the moment of IBD diagnosis (T0) to the end of the induction phase (T1), and time until normalization of Hb, stratified for the type of anemia at T0. A total of 103 children were included in the study, of whom 80 (78%) had anemia at T0. Exclusive IDA was found in 58% of them. Expectant management caused a modest increase in Hb between T0 and T1 for both types of anemia (IDA 0.4 mmol/L; ACD 0.5 mmol/L), but 65 of 80 children (81%) still had anemia at T1. The proportion of children with exclusive IDA had increased to 74%. One third of the cases initially classified as having ACD had progressed to exclusive IDA. There was no significant difference in time until normalization of Hb between children with exclusive IDA and ACD. Twelve months after IBD diagnosis 24% of the group initially diagnosed as having exclusive IDA and 50% of the ACD group were still anemic. Hematological recovery in children with IBD-associated anemia is slow with expectant management, regardless of the type of anemia at T0. Present results underline the need for a more active approach to improve Hb.

Anemia of Inflammation and Chronic Disease

Science.gov (United States)

... AI/ACD. AI/ACD is easily confused with iron- deficiency anemia because in both forms of anemia levels of ... cell production. Low blood iron levels occur in iron-deficiency anemia because levels of the iron stored in the ...

Direct inhibition of TNF-α promoter activity by Fanconi anemia protein FANCD2.

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Nobuko Matsushita

Full Text Available Fanconi anemia (FA, an inherited disease, is associated with progressive bone marrow failure, predisposition to cancer, and genomic instability. Genes corresponding to 15 identified FA complementation groups have been cloned, and each gene product functions in the response to DNA damage induced by cross-linking agents and/or in protection against genome instability. Interestingly, overproduction of inflammatory cytokines such as tumor necrosis factor alpha (TNF-α and aberrant activation of NF-κB-dependent transcriptional activity have been observed in FA cells. Here we demonstrated that FANCD2 protein inhibits NF-κB activity in its monoubiquitination-dependent manner. Furthermore, we detected a specific association between FANCD2 and an NF-κB consensus element in the TNF-α promoter by electrophoretic mobility shift assays (EMSA and chromatin immunoprecipitation (ChIP assay. Therefore, we propose FANCD2 deficiency promotes transcriptional activity of the TNF-α promoter and induces overproduction of TNF-which then sustains prolonged inflammatory responses. These results also suggest that artificial modulation of TNFα production could be a promising therapeutic approach to FA.

Can soluble transferrin receptor be used in diagnosing iron deficiency anemia and assessing iron response in infants with moderate acute malnutrition?

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Büyükkaragöz, Bahar; Akgun, Necat A; Bulus, Ayse D; Durmus Aydogdu, Sultan; Bal, Cengiz

2017-04-01

To evaluate the efficacy of soluble transferrin receptor (sTfR) in diagnosing iron deficiency anemia (IDA) and evaluating iron response in infants with moderate acute malnutrition (MAM). Infants with hemoglobin (Hb) levels lower than threshold values for anemia for their ages and hypochromic/ microcytic anemia on peripheral smear were recruited. MAM was defined as weight/height z score iron parameters and sTfR were compared among 41 infants with MAM and anemia (MA group), 32 infants with anemia without MAM (group A), and healthy controls (n= 30). Following anemia and malnutrition treatment, tests were repeated. Besides hematological indices compatible with IDA, serum iron (Fe) and transferrin saturation (TS) were significantly lower, while transferrin was significantly higher in MA and A groups compared to controls (p 0.05) and significantly higher than controls (p iron treatment, sTfR decreased in both MA and A groups (p iron treatment, we believe that this parameter was not influenced by MAM or inflammation; and it alone can be used to detect IDA and monitor treatment response in infants with MAM.

APLASTIC ANEMIA

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Ni Made Dharma Laksmi

2013-07-01

Full Text Available Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 Aplastic Anemia describes a disorder of the clinical syndrome is marked by a deficiency of red blood cells, neutrophils, monocytes and platelets in the absence of other forms of bone marrow damage. Aplastic anemia is classified as a rare disease in developed countries the incidence of 3-6 cases / 1 million inhabitants / year. The exact cause of someone suffering from aplastic anemia also can not be established with certainty, but there are several sources of potential risk factors. Prognosis or course of the disease varies widely aplastic anemia, but without treatment generally gives a poor prognosis /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

Hydroxyurea therapy in sickle cell anemia patients aids to maintain oral fungal colonization balance.

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Salvia, Ana Carolina Rodrigues Danzi; Figueiredo, Maria Stella; Braga, Josefina Aparecida Pellegrini; Pereira, Daniel Freitas Alves; Brighenti, Fernanda Lourenção; Koga-Ito, C Y

2013-08-01

The aim of this study was to evaluate the frequency of Candida species and presence of lesions in the oral cavity of patients with sickle cell anemia (SS). The study included 30 patients diagnosed with sickle cell anemia and taking hydroxyurea for at least 90 days (SS/HU+); and 39 patients with sickle cell anemia and without hydroxyurea therapy (SS/HU-). Two control groups were constituted by healthy individuals matched to the test groups in age, gender, and oral conditions (C/HU+ for SS/HU+ and C/HU- for SS/HU-). Oral clinical examination and anamnesis were performed. Yeasts were collected by oral rinses and identified by API system. Antifungal susceptibility evaluation was performed according to the CLSI methodology. Data obtained for microorganisms counts were compared by Student's t test (SS/HU+ vs. C/HU+ and SS/HU- vs. C/HU-) using MINITAB for Windows 1.4. Significance level was set at 5%. No oral candidosis lesions were detected. Significant differences in yeasts counts were observed between SS/HU- group and the respective control, but there were no differences between SS/HU+ and C/HU+. Candida albicans was the most prevalent species in all groups. Candida famata was observed both in SS and control groups. Candida dubliniensis, Candida glabrata, Candida krusei, Candida tropicalis, Candida pelliculosa, and Candida parapsilosis were observed only in SS groups. Most strains were susceptible to all antifungal agents. Hydroxyurea therapy seems to decrease candidal counts and resistance rate in sickle cell anemia patients. However, further studies should be conducted in the future to confirm this finding. Hydroxyurea therapy in sickle cell anemia patients maintains fungal species balance in oral cavity. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Radiological profile of anemia on unenhanced MDCT of the thorax

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Kamel, Ehab M.; Rizzo, Elena; Duran, Rafael; Goncalves-Matoso, Vasco; Schnyder, Pierre; Duchosal, Michel A.; Qanadli, Salah D.

2008-01-01

Our aim was to investigate the diagnostic value of unenhanced MDCT in anemic patients. Fifty consecutive patients with proven anemia and 50 nonanemic matched group for age, sex and body mass index were evaluated. In either group, hemoglobin levels were assessed no more than 24 h from an unenhanced CT of the thorax. For each patient, the presence of a hyperattenuating aortic wall (aortic ring sign) and/or dense interventricular septum (subjective parameters) were identified by two radiologists who were blinded to the laboratory findings. Furthermore, the aortic CT attenuation values (objective parameter) were also obtained and correlated with the hemoglobin levels. The sensitivity and specificity in detecting anemia were calculated for each variable, and ROC analysis was generated for subjective and objective parameters. Subjective image analysis revealed that the aortic ring sign was more sensitive than the interventricular septum sign for anemia detection (84% vs. 72%), whereas this latter sign was more specific (100% vs. 92%). A good correlation (r=0.60) was observed between the aortic CT attenuation values and the hemoglobin levels in the whole study population. Using a threshold of ≤35 HU for anemia diagnosis, the sensitivity and specificity of aortic CT attenuation value were 84% and 94%, respectively, with the largest area under the curve (0.89) among all diagnostic criteria. However, the best trade-off between sensitivity (80%) and specificity (100%) was obtained from combining both subjective and objective analysis. Interpreting anemia upon unnenhanced MDCT of the thorax is quite feasible. A diagnostic approach that considers both subjective and objective analysis offers the best trade-off between sensitivity and specificity. (orig.)

Comparative study of MR imaging and X-ray in Med-anemia

International Nuclear Information System (INIS)

Huang Zhongkui; Long Liling; Song Yingru

2002-01-01

Objective: To evaluate the diagnostic value of MRI and X-ray and to analyze MRI and X-ray characteristics in Med-anemia. Methods: MRI was performed in thoracic spine, lumbar spine, sacral spine, pelvis, and superior femurs in 15 patients with pathologically proved Med-anemia with T 1 WI and T 2 WI. Seven of them were examined on X-ray. Twenty volunteers were examined on MR as control group. The authors analyzed the manifestations of MRI in the Med-anemia, including abnormality of signal intensity of bone marrow, T 1 value, vertebral alteration of size and shaped, spinal cord compression due to epidural extramedullary haematopoiesis, and compared with the findings of bone on X-ray. Results: In the control group, bone marrow showed an inhomogeneous iso-signal intensity with band-shaped, triangular or motley high signal intensity in the middle or back part of the vertebra, neck of the femur on T 1 WI and a homogeneous iso-signal intensity on T 2 WI in the vertebra, pelvis, and superior femur. All cases with Med-anemia had low homogenous signal intensity in the bone marrow of the vertebra, pelvis and superior femur on T 1 WI but had no alterations on T 2 WI. The spinal cord was constricted resulting from protruding crushed vertebra with bullet-like shape in 4 cases. The soft tissue masses, confirmed as extramedullary haematopoiesis by operation, were demonstrated in 4 cases. Among 7 cases with X-ray examinations, 2 cases showed normal on X-ray but abnormal bone marrow on MRI, another 5 cases demonstrated bone alteration including osteoporosis, widening of striations, enlargement of ribs and vertebras. T 1 value showed (897.4 +- 75.43) ms in the Med- anemia group and (401.5 +- 28.1) ms in the control group with significant statistical difference (P 1 WI; (2) MRI is useful in demonstrating the space occupying lesion due to vertebral deformity, enlargement of ribs and extramedullary haematopoiesis

Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.

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Futaki, M; Watanabe, S; Kajigaya, S; Liu, J M

2001-02-23

Fanconi anemia (FA) is a genetic syndrome characterized by bone marrow failure, birth defects, and a predisposition to malignancy. At this time, six FA genes have been identified, and several gene products have been found to interact in a protein complex. FA cells appear to overexpress the proinflammatory cytokine, tumor necrosis factor-alpha (TNF-alpha). We therefore examined the effects of TNF-alpha on the regulation of FA complementation group proteins, FANCG and FANCA. We found that treatment with TNF-alpha induced FANCG protein expression. FANCA was induced concurrently with FANCG, and the FANCA/FANCG complex was increased in the nucleus following TNF-alpha treatment. Inactivation of inhibitory kappa B kinase-2 modulated the expression of FANCG. We also found that both nuclear and cytoplasmic FANCG fractions were phosphorylated. These results show that FANCG is a phosphoprotein and suggest that the cellular accumulation of FA proteins is subject to regulation by TNF-alpha signaling.

Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

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Deaconu Alina

2014-06-01

Full Text Available Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukaemia, myelodysplastic syndrome and cancers. FA was first described in 1927 by the Swiss pediatrician Guido Fanconi. The diagnosis is based on morphological abnormalities, hematologic abnormalities (pancytopenia, macrocytic anemia and progressive bone marrow failure and genetic tests (cariograma.

Multiparameter FLAER-based flow cytometry for screening of paroxysmal nocturnal hemoglobinuria enhances detection rates in patients with aplastic anemia.

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Sachdeva, Man Updesh Singh; Varma, Neelam; Chandra, Dinesh; Bose, Parveen; Malhotra, Pankaj; Varma, Subhash

2015-05-01

Flow cytometry is the gold standard methodology for screening of paroxysmal nocturnal hemoglobinuria. In the last few years, proaerolysin conjugated with fluorescein (FLAER) has become an important component of antibody panel used for the detection of paroxysmal nocturnal hemoglobinuria (PNH) clone. This study aimed to compare PNH clone detection by flow cytometry in the pre-FLAER era versus the FLAER era. This was a retrospective analysis of 4 years and included 1004 individuals screened for PNH clone, either presenting as hemolytic anemia or as aplastic anemia. In the pre-FLAER time period, the RBCs and neutrophils were screened with antibodies against CD55 and CD59. With the introduction of FLAER, neutrophils were screened with FLAER/CD24/CD15 and monocytes with FLAER/CD14/CD33 combination. A comparative analysis was done for detection of PNH clone in aplastic anemia patients versus non-aplastic anemia patients, as well as between pre-FLAER and FLAER era. Out of a total of 1004 individuals, 59 (5.8%) were detected to have PNH clone positivity. The frequency of PNH clone detected in aplastic anemia and non-aplastic anemia groups was 12.02 and 3.36%, respectively. The detection rate of PNH clone increased from 4.5% (32/711) in the pre-FLAER era to 9.2% (27/293) with the introduction of FLAER. However, this increase could be attributed to increased detection of PNH clone in the aplastic anemia group, which showed a significant increase from 8.3 to 18.2% after use of FLAER. In the non-aplastic group, PNH clone was detected with similar frequencies before and after use of FLAER (3.2 versus 3.8%, respectively). Mean PNH clone size was lower in the aplastic anemia group when compared with the non-aplastic group. RBCs always showed a lower clone size than neutrophils. PNH clone on neutrophils and monocytes was however similar. Inclusion of FLAER increases the sensitivity of the test which is especially useful in picking up small PNH clones in patients of aplastic anemia.

Endoscopic investigation in non-iron deficiency anemia: a cost to the health system without patient benefit.

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Mogilevski, Tamara; Smith, Rebecca; Johnson, Douglas; Charles, Patrick G P; Churilov, Leonid; Vaughan, Rhys; Ma, Ronald; Testro, Adam

2016-02-01

The indication for endoscopy to investigate anemia of causes other than iron deficiency is not clear. Increasing numbers of endoscopic procedures for anemia raises concerns about costs to the health system, waiting times, and patient safety. The primary aim of this study was to determine the diagnostic yield of endoscopy in patients referred to undergo investigation for anemia. Secondary aims were to identify additional factors enabling the risk stratification of those likely to benefit from endoscopic investigation, and to undertake a cost analysis of performing endoscopy in this group of patients. We performed a retrospective review of endoscopy referrals for the investigation of anemia over a 12-month period at a single center. The patients were divided into three groups: those who had true iron deficiency anemia (IDA), tissue iron deficiency without anemia (TIDWA), or anemia of other cause (AOC). Outcome measures included finding a lesion responsible for the anemia and a significant change of management as a result of endoscopy. A costing analysis was performed with an activity-based costing method. We identified 283 patients who underwent endoscopy to investigate anemia. A likely cause of anemia was found in 31 of 150 patients with IDA (21 %) and 0 patients in the other categories (P cost of a single colonoscopy or gastroscopy was approximated to be $ 2209. Endoscopic investigation for non-IDA comes at a significant cost to our institution, equating to a minimum of $ 293 797 per annum in extra costs, and does not result in a change of management in the majority of patients. No additional factors could be established to identify patients who might be more likely to benefit from endoscopic investigation. The endoscopic investigation of non-IDA should be minimized.

The Analysis of Nutritional Predictors of Anemia Combined with Obesity in Primary School-Age Children

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Sekulic Marija R.

2018-03-01

Full Text Available The consumption and amounts of a variety of food products used in a diet affect the incidence of anemia and different levels of nutritional status among school-age children. The prevalence of food intake comprised of fats, carbohydrates and sodium (salt is a significant contributing factor to the incidence of excessive weight. Apart from nutrition, a leisure-time physical activity and the time spent in front of the TV or computer may contribute to an increase in anemia and obesity rates. The objective of this paper was to examine nutritional status, dietary habits and anemia among school-age children in the central Serbia region (the city of Kragujevac. It was established that 47.3% of the surveyed children fell into the normal weight group, 24.5% of the children are considered to be at risk of being overweight, 21.4 % of the children are considered as obese, whereas 6.8% of the children fell into the under-weight group. The incidence of anemia was noted in 10.8% of the cases, whereas anemia in obese children was observed in 21.6% of the cases (n=114; during the school year of 2014-2015. The obtained results show a statistically significant correlation between an increase in the consumption of fast food and anemia in children, whereas the amount of time children spend in front of the TV is also associated with the higher percentage of anemia and obesity.

Complement inhibitory proteins expression in placentas of thrombophilic women Complement inhibitory proteins expression in placentas of thrombophilic women

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Przemysław Krzysztof Wirstlein

2012-10-01

Full Text Available Factors controlling complement activation appear to exert a protective effect on pregnancy. This is
particularly important in women with thrombophilia. The aim of this study was to determine the transcript and
protein levels of complement decay-accelerating factor (DAF and membrane cofactor protein (MCP in the
placentas of women with acquired and inherited thrombophilia. Also, we assessed immunohistochemistry staining
of inhibitors of the complement cascade, DAF and MCP proteins, in the placentas of thrombophilic women.
Placentas were collected from eight women with inherited thrombophilia and ten with acquired thrombophilia.
The levels of DAF and MCP transcripts were evaluated by qPCR, the protein level was evaluated by Western
blot. We observed a higher transcript (p < 0.05 and protein (p < 0.001 levels of DAF and MCP in the placentas
of thrombophilic women than in the control group. DAF and MCP were localized on villous syncytiotrophoblast
membranes, but the assessment of staining in all groups did not differ. The observed higher expression level of
proteins that control activation of complement control proteins is only seemingly contradictory to the changes
observed for example in the antiphospholipid syndrome. However, given the hitherto known biochemical changes
associated with thrombophilia, a mechanism in which increased expression of DAF and MCP in the placentas is
an effect of proinflammatory cytokines, which accompanies thrombophilia, is probable.Factors controlling complement activation appear to exert a protective effect on pregnancy. This is
particularly important in women with thrombophilia. The aim of this study was to determine the transcript and
protein levels of complement decay-accelerating factor (DAF and membrane cofactor protein (MCP in the
placentas of women with acquired and inherited thrombophilia. Also, we assessed immunohistochemistry

Precursors of executive function in infants with sickle cell anemia.

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Hogan, Alexandra M; Telfer, Paul T; Kirkham, Fenella J; de Haan, Michelle

2013-10-01

Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. However, for the A-not-B task, 7 of 11 sickle cell anemia infants scored in the lower 2 performance categories at 9 months, but only 1 at 12 months (P = .024); controls obtained scores at 12 months that were statistically comparable to the scores they had already obtained at 9 months. On the Object Retrieval task, 9- and 12-month controls showed comparable scores, whereas infants with sickle cell anemia continued to improve (P = .027); at 9 months, those with lower hemoglobin oxygen saturation passed fewer trials (R s = 0.670, P = .024) and took longer to obtain the toy (R s = -0.664, P = .013). Subtle delays in acquiring developmental skills may underlie abnormal executive function in childhood.

MCPIP1 deficiency in mice results in severe anemia related to autoimmune mechanisms.

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Zhou Zhou

Full Text Available Autoimmune gastritis is an organ-specific autoimmune disease of the stomach associated with pernicious anemia. The previous work from us and other groups identified MCPIP1 as an essential factor controlling inflammation and immune homeostasis. MCPIP1(-/- developed severe anemia. However, the mechanisms underlying this phenotype remain unclear. In the present study, we found that MCPIP1 deficiency in mice resulted in severe anemia related to autoimmune mechanisms. Although MCPIP1 deficiency did not affect erythropoiesis per se, the erythropoiesis in MCPIP1(-/- bone marrow erythroblasts was significantly attenuated due to iron and vitamin B12 (VB12 deficiency, which was mainly resulted from autoimmunity-associated gastritis and parietal cell loss. Consistently, exogenous supplement of iron and VB12 greatly improved the anemia phenotype of MCPIP1(-/- mice. Finally, we have evidence suggesting that autoimmune hemolysis may also contribute to anemia phenotype of MCPIP1(-/- mice. Taken together, our study suggests that MCPIP1 deficiency in mice leads to the development of autoimmune gastritis and pernicious anemia. Thus, MCPIP1(-/- mice may be a good mouse model for investigating the pathogenesis of pernicious anemia and testing the efficacy of some potential drugs for treatment of this disease.

Hematological parameters and prevalence of anemia among free-living elderly in south Brazil

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Vanessa Sgnaolin

2013-01-01

Full Text Available OBJECTIVE: The aims of this study were to analyze the hematological parameters, the prevalence of anemia and the association between anemia and socioeconomic conditions in an elderly community-based population. METHODS: A population-based study was performed as part of the Multidimensional Study of the Elderly in Porto Alegre, Brazil (EMIPOA. An initial total of 1058 community residents aged 60 years and older were interviewed. Of these, 392 agreed to have a physical evaluation and a blood sample was taken from each. The hematological parameters analyzed in the blood samples included the hemoglobin concentration, mean cell volume (MCV, mean corpuscular hemoglobin concentration (MCHC and red cell distribution width (RDW. The association between the variables and the diagnosis of anemia was assessed using the chi-squared test and a multiple logistic regression model. RESULTS: The overall prevalence of anemia was 12.8%. Anemia was present in 13.7% of women and in 10.4% of men. Normocytic normochromic anemia without anisocytosis was the most common type of anemia (46%. The assessment of erythrocyte morphology showed significant differences between anemic and non-anemic individuals (microcytosis = 12% vs. 1.5%, hypochromia = 40% vs. 8.8%, and anisocytosis = 26% vs. 7%. In the analysis of socioeconomic conditions, significant differences were found in respect to age and race. CONCLUSION: The prevalence of anemia increases with age and is associated with race, microcytosis, hypochromia and anisocytosis. Anemia is not a condition that should be associated only with the aging process, as it may be due to pathological conditions that occur most frequently in this age group. As a result, a diagnosis of anemia warrants adequate clinical attention.

Anemias hemolíticas

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Ricardo Cediel Ángel

1957-04-01

Full Text Available Hayem (1898 y más tarde Widal (1907 señalaron que, al paso que la forma congénita clásica de anemia hemolítica de Minkowski y Chauffard a menudo causaba pocos síntomas, otro tipo que ellos clasificaron como adquirido, con frecuencia' se asociaba con anemia severa y acentuada incapacidad. Incluyeron allí casos de excesiva destrucción de sangre asociada a diversas infecciones ó intoxicaciones lo mismo que casos de etiología desconocida. Chauffard fue capaz de demostrar autohemolisinas en el suero de unos pocos casos de anemia hemolítica aguda adquirida y se refirió a ellos como "ictericias hemolisínicas". Sin embargo por muchos años existió la duda de que hubiera un verdadero tipo de anemia hemolítica adquirida y muy poco fue tenida en cuenta la posibilidad de que pudiera jugar papel en estos casos una reacción inmunológica.

Genetics Home Reference: iron-refractory iron deficiency anemia

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... refractory iron deficiency anemia Iron-refractory iron deficiency anemia Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Iron-refractory iron deficiency anemia is one of many types of anemia , which ...

The relationship between iron deficiency anemia and simple febrile convulsion in children.

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Yousefichaijan, Parsa; Eghbali, Aziz; Rafeie, Mohammad; Sharafkhah, Mojtaba; Zolfi, Mohaddeseh; Firouzifar, Mohammadreza

2014-05-01

Simple febrile convulsion is the most common disease of the nervous system in children. There are hypotheses that iron deficiency may affect febrile convulsion and the threshold of neuron excitation. This study was conducted with the objective of finding the effects of iron deficiency anemia on simple febrile convulsion episodes. The study was conducted at AmirKabir Hospital of Arak Medical Sciences University, Arak, Iran. This is a case-control study. In this study, 382 children who were selected according to our inclusion and exclusion factors, were divided into two groups of case (febrile convulsion) and control (other factors causing fever) by their cause of hospitalization. After fever subsided, 5 ml blood sample was taken from each child and complete blood count and iron profile tests were performed. The results were interpreted using descriptive statistics and independent t-test. The prevalence of anemia in the group with febrile convulsion was significantly less than that in the control group: 22.5% of the children in the group with febrile convulsion and 34% in the control group exhibited anemia (P < 0.001). Moreover, the group with febrile convulsion had significantly higher blood indices, such as Hb, Hct, MCV, MCH, and MCHC, compared to the control group (P < 0.001). Iron deficiency can prevent febrile convulsion in children and probably increases the threshold of neuron excitation in fever.

A novel approach to adenine-induced chronic kidney disease associated anemia in rodents.

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Asadur Rahman

Full Text Available To date, good experimental animal models of renal anemia are not available. Therefore, the purpose of this study was to establish a novel approach to induce chronic kidney disease (CKD with severe anemia by oral administration of adenine in rodents. Adenine was administered to 6-week-old male C57BL/6 mice (25 and 50 mg/kg body weight by oral gavage daily for 28 days. Serum creatinine and BUN as well as hematocrit, hemoglobin (Hb and plasma erythropoietin (EPO levels were monitored to assess renal function and anemia, respectively. Adenine at 25 mg/kg for 28 days slightly increased plasma creatinine levels, but did not induce anemia. In contrast, 50 mg/kg of adenine daily for 28 days showed severe renal dysfunction (plasma creatinine 1.9 ± 0.10 mg/dL and anemia (hematocrit 36.5 ± 1.0% and EPO 28 ± 2.4 pg/mL as compared with vehicle-treated mice (0.4 ± 0.02 mg/dL, 49.6 ± 1.6% and 61 ± 4.0 pg/mL, respectively. At the end of experiment, level of Hb also significantly reduced in 50 mg/kg adenine administration group. Remarkable histological changes of kidney tissues characterized by interstitial fibrosis and cystic appearance in tubules were observed in 50 mg/kg of adenine treatment group. These results have demonstrated that oral dosing with adenine at 50 mg/kg for 28 days is suitable to induce a stable anemia associated with CKD in mice.

The challenge of microangiopathic hemolytic anemia

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Hassanain Hani Hassan

2017-01-01

Full Text Available Microangiopathic hemolytic anemia (MAHA is a Coomb's-negative hemolytic anemia characterized by red cell fragmentation (schistocytes. Thrombotic microangiopathy anemia, including thrombotic thrombocytopenia and hemolytic-uremic syndrome, malignant hypertension, preeclampsia are among the most common causes. We present a case of MAHA presenting with thrombocytopenia initially diagnosed as MAHA secondary to thrombotic thrombocytopenic purpura and received five sessions plasmapheresis without improvement but with worsening of anemia and thrombocytopenia. On further inquiry, glucose-6-phosphate dehydrogenase deficiency was identified, and the patient showed dramatic recovery after the trial of B12 and folate.

Prevalence and Associated Risk Factors of Anemia in Children and Adolescents with Intellectual Disabilities

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Lin, Jin-Ding; Lin, Pei-Ying; Lin, Lan-Ping; Hsu, Shang-Wei; Loh, Ching-Hui; Yen, Chia-Feng; Fang, Wen-Hui; Chien, Wu-Chien; Tang, Chi-Chieh; Wu, Chia-Ling

2010-01-01

Anemia is known to be a significant public health problem in many countries. Most of the available information is incomplete or limited to special groups such as people with intellectual disability. The present study aims to provide the information of anemia prevalence and associated risk factors of children and adolescents with intellectual…

Eficácia da suplementação de ferro associado ou não à vitamina A no controle da anemia em escolares Efficacy of iron supplementation with or without vitamin A for anemia control

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Rute Cândida Pereira

2007-06-01

Full Text Available Com o objetivo de avaliar a eficácia da suplementação de ferro, associado ou não à vitamina A, na anemia ferropriva, administrado semanalmente, realizou-se ensaio clínico comunitário, randomizado, não controlado por placebo, em 1999. Uma amostra probabilística de 267 escolares de ambos os sexos com 6 a 14 anos de idade foram casualizados em bloco segundo dois tipos de intervenção: um grupo (144 recebeu 200mg de sulfato ferroso com (40mg de ferro elementar e o outro (123 recebeu dose similar de sulfato ferroso associado a 10.000 UI de vitamina A, durante 30 semanas. A prevalência de anemia ao final foi reduzida de 48,4%, para 17,7% (p This study aimed to evaluate the efficacy of weekly iron supplementation with or without vitamin A in the treatment of iron deficiency anemia, using an experimental, randomized, non-placebo-controlled design in 1999. 267 schoolchildren 6 to 14 years of age were randomized to two treatment groups: one group (144 received 200mg iron sulfate alone, with 40mg of elemental iron, while the other (123 received the same iron supplementation dose plus 10,000 IU of vitamin A (both groups for 30 weeks. Final anemia prevalence was reduced from 48.4% to 17.7% (p < 0.001 in the group receiving iron supplementation alone and 58.1% to 14.3% (p < 0.001 in the group receiving iron plus vitamin A. There was no significant difference between the groups at the end of the study according to mean Hb (p = 0.355 and anemia (p = 0.479. There was a significant correction for iron deficiency anemia with weekly iron-alone supplementation, but with no additional advantage of vitamin A. New studies on the synergism between these two micronutrients are recommended.

Metformin Therapy for Fanconis Anemia

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2017-08-01

AWARD NUMBER: W81XWH-16-1-0300 TITLE: Metformin Therapy for Fanconis Anemia PRINCIPAL INVESTIGATOR: Markus Grompe CONTRACTING ORGANIZATION... Anemia 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-16-1-0300 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Markus Grompe 5d. PROJECT NUMBER 5e. TASK...298 (Rev. 8-98) Prescribed by ANSI Std. Z39.18 This award pertains to the treatment of the inherited bone marrow failure syndrome Fanconi’s Anemia

O significado da anemia falciforme no contexto da 'política racial' do governo brasileiro 1995-2004 The significance of sickle cell anemia within the context of the Brazilian government's 'racial policies' (1995-2004

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Peter H. Fry

2005-08-01

argument is that sickle cell anemia becomes much more than an illness to be eradicated. The discourse surrounding it is a powerful element in the process of naturalization of the "black race" (and, by logical and political complement, the "white race" in a country that until recently imagined itself a biologically and culturally hybrid nation.

Association Between Atopic Disease and Anemia in US Children.

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Drury, Kerry E; Schaeffer, Matt; Silverberg, Jonathan I

2016-01-01

Atopic disease is associated with chronic inflammation, food allergen avoidance, and use of systemic immunosuppressant medications. All these factors have been shown to be associated with anemia. To investigate whether atopic disease is associated with increased risk of childhood anemia. A cross-sectional survey and laboratory assessment were conducted using data from the 1997-2013 US National Health Interview Survey (NHIS) that included 207,007 children and adolescents and the 1999-2012 National Health and Nutrition Examination Survey (NHANES) that included 30,673 children and adolescents. Analysis of the data was conducted between August 1, 2014, and August 28, 2015. Caregiver-reported history of eczema, asthma, hay fever, and/or food allergy. Anemia was defined by caregiver report in the NHIS and by hemoglobin levels for age and sex in the NHANES. Data were collected on 207,007 children and adolescents from NHIS, representing all pediatric age, sex, racial/ethnic, household educational level, and income groups. The US prevalence was 9.5% (95% CI, 9.4%-9.7%) from all years of the NHIS for health care-diagnosed eczema, 12.8% (95% CI, 12.6%-13.0%) for asthma, 17.1% (95% CI, 16.9%-17.3%) for hay fever, 4.2% (95% CI, 4.1%-4.3%) for food allergy, and 1.1% (95% CI, 1.1%-1.2%) for anemia. In multivariable logistic regression models controlling for age, sex, race/ethnicity, annual household income, highest educational level in the family, insurance coverage, number of persons in the household, birthplace in the United States, and history of asthma, hay fever, and food allergy, anemia was associated with eczema in 14 of 17 studies, asthma in 11, hay fever in 12, and food allergy in 12. In multivariable analysis across the NHIS (with results reported as adjusted odds ratios [95% CIs]), children with any eczema (1.83; 1.58-2.13), asthma (1.31; 1.14-1.51), hay fever (1.57; 1.36-1.81), and food allergy (2.08; 1.71-2.52) had higher odds of anemia (P < .001 for all). In the

Determination of Nutritional Training for the Prevention of Anemia on Pregnant Women

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Nurhan Aytug Kanber

2011-02-01

Full Text Available Aim: Anemia seen during the period of gestation affects the health of the mother as well fetus. Nutrition education which given in pregnancy may prevent the development of anemia. Our research was carried out to determine the effect of nutritional training for the prevention of anemia due to iron defiency. Method: The training and the control group each having 30 people in our research received a total of 60 pregnant women. All of the pragnant women was administered questionnaire during the 3rd and 9th month of pregnancy to ascertain the participants sociodemographik features and level of knowledge and hemoglobin values were recorded. A nutritional training were given to the pregnant women in the Training group when they are in the 3rd months of their pregnancy and this pregnant women were reminded that they should pay attention to nutrition subjects them once a month by telephone until 9th months of pregnancy. To analyze the data chi-square, Mann- Whitney U and Wilcoxon tests were used. Results: During the 3rd month of gestation, the mean values for Hb was 12.5±1,6gr/dL in Training group and 12,6±1,0gr/dL in Control Group (P=0,893. It was also seen an increase in the level of nutritional knowledge for the women in the Training group (P<0,001, while there was not any significant difference in the other group (Control Group with a P value of (P=0,850. When the decrease in the Hb is considered during the 9th month of pregnancy, 0,6±1,1g/dL reduction was observed in group Training group and 0,8±1,5g/dL in Control Group group on average. However, there was not any XI significant difference in terms of decrease in Hb level in group Training group versus group Training group (P=0,387. Conclusion: It was observed that the training given to the pregnant women had a positive effect on their level of knowledge, whereas it was not sufficient to prevent Anemia in our research. [TAF Prev Med Bull 2011; 10(1.000: 45-52

Transient correction of excision repair defects in fibroblasts of 9 xeroderma pigmentosum complementation groups by microinjection of crude human cell extract.

NARCIS (Netherlands)

W. Vermeulen (Wim); P. Osseweijer; A.J.R. de Jonge; J.H.J. Hoeijmakers (Jan)

1986-01-01

textabstractCrude extracts from human cells were microinjected into the cytoplasm of cultured fibroblasts from 9 excision-deficient xeroderma pigmentosum (XP) complementation groups. The level of UV-induced unscheduled DNA synthesis (UDS) was measured to determine the effect of the extract on the

Complementing xeroderma pigmentosum fibroblasts restore biological activity to UV-damaged DNA

International Nuclear Information System (INIS)

Day, R.S. III; Kraemer, K.H.; Robbins, J.H.

1975-01-01

UV survival curves of adenovirus 2 using fused complementing xeroderma pigmentosum fibroblast strains as virus hosts showed a component with an inactivation slope identical to that given by normal cells. This component was not observed when the fibroblasts were not fused or when fusions involved strains in the same complementing group. Extrapolation to zero dose indicated that three percent of the viral plaque-forming units had infected cells capable of normal repair; this suggested that three percent of the cells were complementing heterokaryons. Thus, heterokaryons formed from xeroderma pigmentosum fibroblasts belonging to different complementation groups are as capable of restoring biological activity to UV-damaged adenovirus 2 as are normal cells

Anemia and survival in human immunodeficiency virus

DEFF Research Database (Denmark)

Lundgren, Jens Dilling; Mocroft, Amanda

2003-01-01

The prospective, multicenter cohort study EuroSIDA has previously reported on predictors and outcomes of anemia in patients infected with human immunodeficiency virus. In a Cox proportional-hazards model with serial measures of CD4+ cell count, plasma viral load, and degrees of anemia fitted...... as time-dependent variables, the relative hazard of death increased markedly for patients with anemia versus no anemia. A clinical scoring system was developed and validated for patients receiving highly active antiretroviral therapy using the most recent laboratory measures. Mild and severe anemia were...... independently (Panemia. The mechanisms underlying why hemoglobin is such a strong prognostic...

Genetics Home Reference: X-linked sideroblastic anemia

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... Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that prevents developing red ...

Special Issues for People with Aplastic Anemia

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... Menu Donate Special Issues for People with Aplastic Anemia Because you have aplastic anemia , everyday events can ... bleeding, such as contact sports. Pregnancy and Aplastic Anemia Pregnancy is possible for women who have been ...

A history of repetitive cesarean section is a risk factor of anemia in healthy perimenopausal women: The Korea National Health and Nutrition Examination Survey 2010-2012.

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Jee Yoon Park

Full Text Available To determine whether the delivery method is associated with the rate of anemia in later life, using the data from the Korea National Health and Nutrition Examination Survey (KNHANES.This study used data from the KNHANES 2010-2012. Among 25,534 participants, 8,126 cases were included in this study after exclusion of males and other inappropriate data. The study population was divided into three groups according to the delivery modes: vaginal delivery (VD only group, single cesarean delivery (SCD group and repetitive cesarean delivery (RCD group. The primary outcome was anemia and iron deficiency. Anemia was defined as hemoglobin <12 g/dl in accordance with the World Health Organization criteria. Iron deficiency was defined as low transferrin saturation (TSAT or ferritin levels. Multivariate analysis was used for determination of association between the delivery modes and anemia.The mean age was 53.4 years and the median time from the last delivery to the survey was 25 years. The VD only group was composed of 6,493 (79.9% women, while 685 (8.4% were classified as the SCD group and 948 (11.7% were classified as a RCD group. The rates of anemia were 11.8%, 13.9%, and 19.7% in VD only group, SCD group, and RCD group, respectively. However, those groups were significantly different in many confounding factors. Therefore, to adjust those factors, multivariate analysis and subgroup analysis were followed. The odds of SCD for anemia and iron deficiency were not different from those of VD only. However, RCD was independently associated with anemia [Odds ratio(OR 1.47, 95% Confidence interval (CI 1.21-1.79, P <0.001] and iron deficiency (OR 1.42, 95% CI 1.21-1.67, P <0.001 compared to VD only. In the subgroup analysis, RCD was significantly associated with anemia in perimenopausal women, women with iron deficiency, those without any comorbidity and those without anemia-prone treatment.Repetitive cesarean section may be a risk factor for future development

Outcome of Allogeneic Stem Cell Transplantation for Patients Transformed to Myelodysplastic Syndrome or Leukemia from Severe Aplastic Anemia: A Report from the MDS Subcommittee of the Chronic Malignancies Working Party and the Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation

NARCIS (Netherlands)

Hussein, A.A.; Halkes, C.M.; Socie, G.; Tichelli, A.; Borne, P.A. von dem; Schaap, M.N.; Foa, R.; Ganser, A.; Dufour, C.; Bacigalupo, A.; Locasciulli, A.; Aljurf, M.; Peters, C.; Robin, M.; Biezen, A.A. van; Volin, L.; Witte, T.J. de; Marsh, J.; Passweg, J.R.; Kroger, N.; et al.,

2014-01-01

One hundred and forty patients who had undergone hematopoietic stem cell transplantation (HSCT) for myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML) transformation after treatment of severe aplastic anemia (SAA) were identified in the European Group for Blood and Marrow

LAMA HAID DAN KEJADIAN ANEMIA PADA REMAJA PUTRI

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Febrianti Febrianti

2015-04-01

Full Text Available Latar belakang: Madrasah Aliyah Negeri (MAN 2 Bogor adalah sekolah dengan angka  prevalensi anemia tertinggi di kota Bogor. Dari pemeriksaan Puskesmas Bogor Timur pada tahun 2009, ada 65,8 persen  siswi sekolah tersebut yang menderita anemia. Tujuan:  Identifikasi faktor-faktor yang berhubungan dengan kejadian anemia. Metode: Penelitian kuantitatif dengan rancangan potong lintang. Variabel dependen adalah kejadian anemia. Variabel independen terdiri atas lama haid, frekuensi makan, kebiasaan makan buah-buahan, kebiasaan makan protein hewani, kebiasaan makan protein nabati, dan kebiasaan minum teh. Pengumpulan data dilakukan dua tahap yaitu pengisian kuesioner dan pengambilan sampel darah. Data dianalisis univariat dan bivariat. Hasil:  Ditemukan  hubungan  yang  bermakna  antara  lama  haid  dengan  kejadian  anemia remaja  putri  (p value=0.028. Variabel lain tidak memiliki hubungan yang bermakna dengan anemia.  Kesimpulan: Prevalensi anemia di MAN 2 Bogor berhubungan dengan lama haid dan tidak berhubungan dengan variabel lain.  Kata kunci: anemia remaja putri, faktor-faktor anemia, lama haid.

Molecular analysis by electron microscopy of the removal of psoralen-photoinduced DNA cross-links in normal and Fanconi's anemia fibroblasts

International Nuclear Information System (INIS)

Rousset, S.; Nocentini, S.; Revet, B.; Moustacchi, E.

1990-01-01

The induction and fate of psoralen-photoinduced DNA interstrand cross-links in the genome of Fanconi's anemia (FA) fibroblasts of complementation groups A and B, and of normal human fibroblasts, were investigated by quantitative analysis of totally denatured DNA fragments visualized by electron microscopy. 8-Methoxypsoralen (5 x 10(-5) M) interstrand cross-links were induced as a function of the near ultraviolet light dose. With time of postexposure incubation, a fraction of interstrand cross-links disappeared in all cell lines. However, 24 h after treatment, this removal was significantly lower in the two FA group A cell lines examined (34-39%) than in the FA group B and normal cell lines (43-53 and 47-57%, respectively). These data indicate that FA cells are at least able to recognize and incise interstrand cross-links, as normal cells do, although group A cells seem somewhat hampered in this process. This is in accord with data obtained on the same cell lines using another biochemical assay. Since the fate of cross-links in FA constituted a controversial matter, it is important to stress that two different methodologies applied to genetically well defined cell lines led to the same conclusions

Protective Effect of Morocco Carob Honey Against Lead-Induced Anemia and Hepato-Renal Toxicity

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Aicha Fassi Fihri

2016-06-01

Full Text Available Background/Aims: Natural honey has many biological activities including protective effect against toxic materials. The aim of this study was to evaluate the protective effect of carob honey against lead-induced hepato-renal toxicity and lead-induced anemia in rabbits. Methods: Twenty four male rabbits were allocated into four groups six rabbits each; group 1: control group, received distilled water (0.1 ml / kg.b.wt /daily; group 2: received oral lead acetate (2 g/kg.b.wt/daily; group 3: treated with oral honey (1g /kg.b.wt/daily and oral lead (2 g/kg.b.wt/daily, and group 4: received oral honey (1 g/kg.b.wt/daily. Honey and lead were given daily during 24 days of experimentation. Laboratory tests and histopathological evaluations of kidneys were done. Results: Oral administration of lead induced hepatic and kidney injury and caused anemia during three weeks of the exposure. Treatment with honey prevented hepato-renal lead toxicity and ameliorated lead-induced anemia when honey was given to animals during lead exposure. Conclusion: It might be concluded that honey has a protective effect against lead-induced blood, hepatic and renal toxic effects.

Protective Effect of Morocco Carob Honey Against Lead-Induced Anemia and Hepato-Renal Toxicity.

Science.gov (United States)

Fihri, Aicha Fassi; Al-Waili, Noori S; El-Haskoury, Redouan; Bakour, Meryem; Amarti, Afaf; Ansari, Mohammad J; Lyoussi, Badiaa

2016-01-01

Natural honey has many biological activities including protective effect against toxic materials. The aim of this study was to evaluate the protective effect of carob honey against lead-induced hepato-renal toxicity and lead-induced anemia in rabbits. Twenty four male rabbits were allocated into four groups six rabbits each; group 1: control group, received distilled water (0.1 ml / kg.b.wt /daily); group 2: received oral lead acetate (2 g/kg.b.wt/daily); group 3: treated with oral honey (1g /kg.b.wt/daily) and oral lead (2 g/kg.b.wt/daily), and group 4: received oral honey (1 g/kg.b.wt/daily). Honey and lead were given daily during 24 days of experimentation. Laboratory tests and histopathological evaluations of kidneys were done. Oral administration of lead induced hepatic and kidney injury and caused anemia during three weeks of the exposure. Treatment with honey prevented hepato-renal lead toxicity and ameliorated lead-induced anemia when honey was given to animals during lead exposure. It might be concluded that honey has a protective effect against lead-induced blood, hepatic and renal toxic effects. © 2016 The Author(s) Published by S. Karger AG, Basel.

Imaging Diagnosis of Neonatal Anemia: Report of Two Unusual Etiologies

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Shabnam Bhandari Grover

2013-01-01

Full Text Available Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus infections. Congenital leukemia and infantile osteopetrosis (OP are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of congenital leukemia are still rarer. Infantile OP, another rare disorder with a reported incidence of 1 in 250,000 has characteristic imaging features, which are diagnostic of the disease. We report a case each, of two rare diseases: Congenital leukemia and infantile osteopetrosis. Additionally, our report highlights the radiological and imaging features of congenital leukemia and infantile OP and their crucial role in arriving at an early diagnosis.

Avoiding Anemia: Boost Your Red Blood Cells

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... Issues Subscribe January 2014 Print this issue Avoiding Anemia Boost Your Red Blood Cells En español Send ... Disease When Blood Cells Bend Wise Choices Preventing Anemia To prevent or treat iron-deficiency anemia: Eat ...

Concepts of anemia among low income Nicaraguan women Conceptos de anemia entre mujeres nicaragüenses de baja renta Conceitos de anemia entre mulheres nicaragüenses de baixa renda

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Rita L. Ailinger

2009-04-01

Full Text Available Anemia is a common health problem among women throughout the world, however, there has been minimal research on women's concepts of anemia. The purpose of this study was to examine concepts of anemia in low income Nicaraguan women. A qualitative design was used. Audio-taped open-ended interviews in Spanish with 14 women were used to obtain data. Tapes were transcribed and content analyzed. The findings indicate that few of the women had biomedically accurate concepts of anemia, such as that it was due to lack of iron from poor eating. Others held folk medical beliefs including home remedies, for example drinking the milk of a mare or beet juice and eating certain foods such as bean soup. Most of the women did not know any symptoms of anemia and a few reported that it can develop into leukemia. These concepts of anemia are instructive for nurses working with patients from Nicaragua and will be useful in developing nursing interventions to alleviate this public health problem.La anemia es un problema de salud común entre las mujeres alrededor del mundo, sin embargo, se han realizado pocas investigaciones sobre los conceptos de anemia entre las mujeres. El propósito de este estudio fue examinar los conceptos de anemia en mujeres Nicaragüenses de bajos ingresos económicos. La investigación fue de orden cualitativa. Para la recolección de datos, se realizaron entrevistas semiestructuradas, grabadas en castellano, con 14 mujeres. Las cintas grabadas fueron transcritas y se realizó un análisis de contenido. Los resultados indican que pocas mujeres poseen conocimientos biomédicos sobre anemia, por ejemplo, la ingestión de alimentos pobres en hierro. Otras expresaron creencias populares, como remedios caseros, ingestión de leche de yegua o jugo de remolacha y ciertos alimentos como sopa de judías. La mayoría de las mujeres no conocía ningún síntoma de anemia y pocas relataron que creían que esta enfermedad podría transformarse en

Efficacy of multiple micronutrient supplementation for improving anemia, micronutrient status, growth, and morbidity of Peruvian infants.

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López de Romaña, Guillermo; Cusirramos, Sandra; López de Romaña, Daniel; Gross, Rainer

2005-03-01

Anemia, micronutrient deficiencies, and growth faltering are still common in Peru. The study objective was to determine the efficacy of different micronutrient supplements in preventing growth failure, anemia, and micronutrient deficiencies in Peruvian infants. Three hundred and thirteen infants aged 6 to 12 mo participated in a double-blind, masked, controlled trial in which they were randomly assigned to receive either a daily dose of iron (DI), a daily dose of multiple micronutrients (DMM), a weekly dose of multiple micronutrients, or a placebo (P) for 6 mo. None of the supplements tested prevented growth faltering or the morbidities common during infancy. Anemia and plasma homocysteine concentrations fell significantly in all groups during the study, but the mean change of plasma homocysteine during the trial period was significantly smaller in the DI group than in other groups, and the increase in hemoglobin concentrations was smaller in the P group than the micronutrient treatment groups. Plasma ferritin concentrations decreased least in the groups taking daily micronutrient supplements containing iron (DI and DMM). There were no significant differences among groups in mean final values or changes in plasma zinc, retinol, tocopherol, or riboflavin. Although the DMM intervention was the most efficacious for preventing anemia, iron, and zinc deficiencies, 15%, 20%, and 50% of this group still remained anemic, zinc deficient, and iron deficient, respectively, at the end of the study. Further research thus should investigate whether higher doses of iron and zinc, together with infection control measures, are more efficacious.

Anemia and malaria in a Yanomami Amerindian population from the southern Venezuelan Amazon.

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Pérez Mato, S

1998-12-01

The prevalence and age distribution of anemia and malaria among Yanomami Amerindians undergoing sociocultural assimilation are described. Anemia and malaria proportions were determined in 103 individuals randomly selected from 515 villagers in Mavaca in the southern Venezuelan Amazon. The age and sex distribution reflected that of the entire village cluster. Anemia (hematocrit less than World Health Organization/Centers for Disease Control and Prevention reference values) was found in 91% of the study population. As a group, adults (> or = 15 years old) had the highest proportion of anemia (P=0.037). Adult females had lower mean hematocrit values than adult males (P=0.013). The anemia was predominantly hypochromic and microcytic (62%), a finding that could suggest a diagnosis of iron deficiency in the absence of known hereditary hemoglobinopathies in these Amerindians. Malaria was diagnosed in 14% overall. Children (< 10 years old) displayed the highest proportion of Plasmodium falciparum (17%) and P. vivax (14%) parasitemia, splenomegaly (94%), and fever (34%) (P=0.059, 0.039, 0.005, and 0.008, respectively). The high proportions of anemia and splenomegaly observed in the survey may be used as indicators of inadequately controlled malaria in this community. Further studies to assess the epidemiology of risk factors for the high prevalence of anemia, and predominance of P. falciparum infections in the area are urgently needed.

Anemia and Iron Deficiency in Children With Potential Celiac Disease.

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Repo, Marleena; Lindfors, Katri; Mäki, Markku; Huhtala, Heini; Laurila, Kaija; Lähdeaho, Marja-Leena; Saavalainen, Päivi; Kaukinen, Katri; Kurppa, Kalle

2017-01-01

Active screening for celiac disease frequently detects seropositive children with normal villous morphology (potential celiac disease). It remains unclear whether these subjects should be treated. We here investigated the prevalence of anemia and iron deficiency in children with potential and mucosal atrophy celiac disease. The prospective study involved 19 children with potential disease, 67 with partial or subtotal villous atrophy (P/SVA), and 16 with total villous atrophy (TVA). Twenty-three healthy children comprised the control group. The groups were compared for various clinical, histological, and laboratory parameters and hepcidin. The prevalence of abnormal parameters was as follows (controls, potential celiac disease, P/SVA, and TVA, respectively): anemia 0%, 15%, 22%, and 63%; low iron 5%, 0%, 14%, and 50%; increased transferrin receptor 1 5%, 16%, 20%, and 47%; low ferritin 0%, 21%, 35%, and 87%; and low transferrin saturation 10%, 11%, 41%, and 71%. One subject had low folate and none had low vitamin B12. The median values for hemoglobin, total iron, ferritin, and transferrin saturation were significantly lower and transferrin receptor 1 values higher in TVA group compared with other groups. After a median of 7 months on a gluten-free diet hemoglobin, total iron, ferritin, and albumin in children with P/SVA exceeded the baseline values in the potential celiac disease group. The development of anemia and iron deficiency in celiac disease is a continuum and may already be present in children with normal villous morphology, advocating an early diagnosis and possible dietary treatment of these patients.

Iron deficiency anemia in sports and preventive dietetic and nutrition interventions

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Aritz Urdampilleta

2013-12-01

Full Text Available Iron deficiency anemia in athletes is a very common condition that leads to reduced physical performance. Athletes are susceptible of falling iron deposits, mainly by an increase in its use, by its loss, or by insufficient intake. The present review aims to establish the basis of current knowledge environment: sports-athletes who have increased risk of anemia, etiology of iron deficiency anemia in the sporting group, providing dietary and nutritional guidelines for its prevention. The databases searched were Pubmed, Scirus and Scielo, as well as the official pages of prestigious organizations, recovering items by keywords: “iron-deficiency anemia”, “sports”, “athletic performance”, “iron intake “or Spanish counterparts. Iron deficiency anemia affects mainly endurance athletes (especially women and marathon and the members of team sports with high impact (volleyball and handball. Usually secondary anemias from hemolysis and oxidative stress resulting from the practice of sport, but it cases have also been documented by increased iron losses associated with exercise. Dietary and nutritional practices to prevent iron deficiency anemia in athletes should aim to ensure: carbohydrate intake between 60-65% of total energy daily minimum intake of 1.4 g of protein per day and a consumption of 20-40 mg iron daily, separating the intake of the main absorption inhibitors (phytate, tanetos and calcium. You need assessed by analytical iron status of the athlete every 2-3 months.

Anemia Aplástica e Gravidez: Relato de Caso Aplastic Anemia and Pregnancy: A Case Report

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Rosiane Alves de Sousa Teles

2002-06-01

Full Text Available A anemia aplástica é distúrbio caracterizado por pancitopenia e medula óssea hipocelular, com substituição gordurosa dos elementos e sem nenhum sinal de transformação maligna ou doença mieloproliferativa. Acomete geralmente adultos jovens e idosos, sem preferência sexual. A maioria dos casos é adquirida, mas pode ocorrer hereditariamente, por distúrbio molecular (anemia de Fanconi. A associação com gravidez é rara, estando relacionada com alta morbidade e mortalidade materna e fetal. Os autores descrevem o caso de uma paciente com anemia aplástica, diagnosticada previamente, cuja gestação complicou com infecção do trato urinário, doença hipertensiva específica da gestação e restrição de crescimento fetal, com parto prematuro eletivo. Apesar das condições adversas na gravidez e parto, mãe e recém-nascido tiveram evolução clínica satisfatória.Aplastic anemia is characterized by a circulating pancytopenia, hypocellularity, and fatty replacement of cellular marrow elements, without evidence of malignant transformation or myeloproliferative disease. It usually affects young and senior adults, without any sexual preference. Most cases of aplastic anemia are acquired, but the disease may also be inherited due to a molecular disorder (Fanconi's anemia. Aplastic anemia in pregnancy is an extremely rare condition with high maternal and fetal morbidity and mortality rates. The authors describe a case of a patient with previously diagnosed aplastic anemia, whose pregnancy was complicated with urinary tract infection, preeclampsia and fetal growth restriction, with elective preterm birth. In spite of the adverse conditions in pregnancy and delivery, mother and newborn had a satisfactory clinical evolution.

The first description of severe anemia associated with acute kidney injury and adult minimal change disease: a case report

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Qian Yimei

2009-01-01

Full Text Available Abstract Introduction Acute kidney injury in the setting of adult minimal change disease is associated with proteinuria, hypertension and hyperlipidemia but anemia is usually absent. Renal biopsies exhibit foot process effacement as well as tubular interstitial inflammation, acute tubular necrosis or intratubular obstruction. We recently managed a patient with unique clinical and pathological features of minimal change disease, who presented with severe anemia and acute kidney injury, an association not previously reported in the literature. Case presentation A 60-year-old Indian-American woman with a history of hypertension and diabetes mellitus for 10 years presented with progressive oliguria over 2 days. Laboratory data revealed severe hyperkalemia, azotemia, heavy proteinuria and progressively worsening anemia. Urine eosinophils were not seen. Emergent hemodialysis, erythropoietin and blood transfusion were initiated. Serologic tests for hepatitis B, hepatitis C, anti-nuclear antibodies, anti-glomerular basement membrane antibodies and anti-neutrophil cytoplasmic antibodies were negative. Complement levels (C3, C4 and CH50 were normal. Renal biopsy unexpectedly displayed 100% foot process effacement. A 24-hour urine collection detected 6.38 g of protein. Proteinuria and anemia resolved during six weeks of steroid therapy. Renal function recovered completely. No signs of relapse were observed at 8-month follow-up. Conclusion Adult minimal change disease should be considered when a patient presents with proteinuria and severe acute kidney injury even when accompanied by severe anemia. This report adds to a growing body of literature suggesting that in addition to steroid therapy, prompt initiation of erythropoietin therapy may facilitate full recovery of renal function in acute kidney injury.

Influence of laser and LED irradiation on mast cells of cutaneous wounds of rats with iron deficiency anemia

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Becher Rosa, Cristiane; Oliveira Sampaio, Susana C. P.; Monteiro, Juliana S. C.; Ferreira, Maria F. L.; Zanini, Fátima A. A.; Santos, Jean N.; Cangussú, Maria Cristina T.; Pinheiro, Antonio L. B.

2011-03-01

This work aimed to study histologically the effect of Laser or LED phototherapy on mast cells on cutaneous wounds of rats with iron deficiency. 18 rats were used and fed with special peleted iron-free diet. An excisional wound was created on the dorsum of each animal which were divided into: Group I - Control with anemia + no treatment; Group II - Anemia + Laser; Group III - Anemia + LED; Group IV - Healthy + no treatment; Group V - Healthy + Laser; Group VI - Healthy + LED. Irradiation was performed using a diode Laser (λ660nm, 40mW, CW, total dose of 10J/cm2, 4X2.5J/cm2) or a RED-LED ( λ700nm, 15mW, CW, total dose of 10J/cm2). Histological specimens were routinely processed, cut and stained with toluidine blue and mast cell counts performed. No significant statistic difference was found between groups as to the number of degranulated, non-degradulated or total mast cells. Greater mean values were found for degranulated mast cells in the Anemia + LED. LED irradiation on healthy specimens resulted in a smaller number of degranulated mast cells. Our results leads to conclude that there are no significant differences in the number of mast cells seven days after irradiation following Laser or LED phototherapy.

The Relationship Between The Number of Parities and Pregnancy Age with Maternal Anemia

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Irul Hidayati

2018-04-01

Full Text Available According to the World Health Organization, the anemia prevalence was estimated reach 9% in developed countries, while in developing countries reached 43%. The most-at-risk groups were children and women at fertile age, with an estimated prevalence of anemia in infants at 47%, pregnant women by 42%, and in non-pregnant women t ages 15-49 reached 30%. This was an observational analytic research with cross sectional approach. The purpose was to analyzed the relationship between the number of parity and the pregnancy age with the incidence of maternal anemia. The population in this study were 111 pregnant womens who checked their pregnancy to Public Healt Center (PHC Kintamani 1 at Bangli regency, the province of Bali. The  simple random sampling was used in the research with 87 peoples acted as research sample. Using Rank Spearman Correllation test, it was founded that there was a relationship between the number of parity with the incidence of maternal anemia a low  relationship, and there was a relationship between gestational age with maternal anemia incidence with a low degree relationship.

Aplastic anemia in Japanese radiological technicians

International Nuclear Information System (INIS)

Kitabatake, T.; Watanabe, T.; Saito, A.; Nakamura, M.; Shiohama Hospital, Mie

1976-01-01

Among the Japanese radiological technicians, four deaths from aplastic anemia have been reported after 1930. On the other hand, during the period from 1930 to 1960, the population of radiological technicians is estimated to be 74,400 man-years, in which 0.5 aplastic anemias are expected. However, actually three died from aplastic anemia. This difference is statistically significant at the 1% level. While, in the period from 1961 to 1973, the observed value is 1 against 0.7 expected. It is concluded that aplastic anemia had been induced frequently among the Japanese radiological technicians in the era when there was much exposure to occupational radiation. (orig.) [de

Evasion Mechanisms Used by Pathogens to Escape the Lectin Complement Pathway.

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Rosbjerg, Anne; Genster, Ninette; Pilely, Katrine; Garred, Peter

2017-01-01

The complement system is a crucial defensive network that protects the host against invading pathogens. It is part of the innate immune system and can be initiated via three pathways: the lectin, classical and alternative activation pathway. Overall the network compiles a group of recognition molecules that bind specific patterns on microbial surfaces, a group of associated proteases that initiates the complement cascade, and a group of proteins that interact in proteolytic complexes or the terminal pore-forming complex. In addition, various regulatory proteins are important for controlling the level of activity. The result is a pro-inflammatory response meant to combat foreign microbes. Microbial elimination is, however, not a straight forward procedure; pathogens have adapted to their environment by evolving a collection of evasion mechanisms that circumvent the human complement system. Complement evasion strategies features different ways of exploiting human complement proteins and moreover features different pathogen-derived proteins that interfere with the normal processes. Accumulated, these mechanisms target all three complement activation pathways as well as the final common part of the cascade. This review will cover the currently known lectin pathway evasion mechanisms and give examples of pathogens that operate these to increase their chance of invasion, survival and dissemination.

Colostral whey concentrate supplement increases complement activity in the sera of neonatal calves.

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Rokka, S; Korhonen, B H; Nousiainen, J; Marnila, P

2001-08-01

We evaluated the effect of a commercial bovine colostral whey on the complement-mediated immune responses of calves. Two groups of neonatal calves were fed, in addition to whole milk (WM) and pooled colostrum (PC), different amounts of a commercial immunoglobulin concentrate made from pooled colostral whey (Ig-C) for the first two feedings post natum. The control group was fed WM and PC only. Serum samples were obtained at the ages of 2, 7, 14 and 30 d. Bacteriolytic activity against complement-sensitive Escherichia coli JM103 and opsonic activity against complement-lysis-resistant E. coli IH3080 strains were studied, as well as the levels of C3 complement component and E. coli JM103 specific antibodies in the sera. Groups fed Ig-C had 2-3 times higher bacteriolytic activity than the control group of both the classic (P complement activities of serum can be increased substantially by feeding colostral whey concentrate to calves during their first days of life.

The incidence of gastrointestinal pathology and subsequent anemia in young men presenting with iron deficiency without anemia.

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Carter, Dan; Bardan, Eytan; Derazne, Estela; Tzur, Dorit; Avidan, Benjamin

2016-10-01

The etiology of iron deficiency (ID) without anemia in young men is unclear, and there are no evidence-based recommendations for the required gastrointestinal (GI) evaluation. The aims of this study were to examine the incidence of significant GI pathology and the development of anemia during the follow-up of young men presenting with ID, but without anemia. All young men (18-30 years) who served in the Israel Defense Forces during the years 2005-2013 and had at least a single laboratory test indicative of ID without anemia were followed until the diagnosis of significant GI pathology or discharge from military service. The study population included 2061 young men (mean age 20.7±1.8). During follow-up of 3150 person years, significant GI pathologies were diagnosed in 39 patients: inflammatory bowel disease in 25 (1.2%), celiac disease in 8 (0.4%), and peptic disease in 4 (0.1%). No cases of GI-related cancer were diagnosed. ID anemia developed during follow-up in 203 (9.8%). Lower baseline hemoglobin levels, lower ferritin levels, and younger age at diagnosis were more common among those who developed anemia. The development of anemia was a predisposing factor for the diagnosis of GI pathology (risk ratio=3.60, 95% confidence interval 1.34-8.32, P=0.012). Significant GI pathology is very uncommon in young men presenting with ID. Overt anemia developed in close to 10% of the study cohort. Therefore, we advise simple GI evaluation (celiac serology, C-reactive protein or fecal calprotectin, and urease breath test) as well as follow-up in this population.

Diagnosis of thalassemia and iron deficiency anemia using confocal and atomic force microscopy

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Tariq, Saira; Bilal, Muhammad; Shahzad, Shaheen; Firdous, Shamaraz; Aziz, Uzma; Ahmed, Mushtaq

2017-11-01

Anemia is the most prevalent blood disorder, categorized into thalassemia and iron deficiency anemia. In anemia, the morphology of erythrocytes is disturbed, thus leading to abnormal functioning of the erythrocytes. Globally, thalassemia affects 1.3% of individuals and is one of the most widespread monogenic disorders in Pakistan. All over the World, women and children are most frequently affected by a type of nutritional deficiency known as iron deficiency anemia. The morphological changes that occur in erythrocytes due to these diseases are investigated in this study at the nano-scale level. Fifty samples of blood from individuals suffering from thalassemia or iron deficiency anemia were obtained from different hospitals in Rawalpindi and Islamabad. The blood samples were scanned using atomic force microscopy (AFM) and laser scanning confocal microscopy (LSCM) to check the morphological changes in both types of anemia. According to the present study, thalassemia is most prevalent in females in the age group between 5 and 15 years old, and iron deficiency is most prevalent in females in the age groups of 16-25 and 36-45 years old. Erythrocyte morphology is the significant determinant for diagnosing and discriminating between these two types of diseases. The study reports deformed erythrocytes in anemic patients, which were different from the ones that existed in the control. Thalassemia erythrocytes showed a crenated shape, iron deficiency anemia erythrocytes showed an elliptocyte shape and healthy erythrocytes showed a biconcave disk shape when using AFM and LSCM. These techniques seem to be very promising, cheap and less time consuming in determining the structure-function relationship of erythrocytes of thalassemic and iron deficiency anemic patients. The results of LSCM and AFM are quite useful in determining the morphological changes in erythrocytes and to study the disease at the molecular level within short period of time. Hence, we encourage employing

[Comparison of two types of antithymocyte globulin in the treatment of children with aplastic anemia].

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Xie, X T; He, W; Shi, W; Zhou, X X; Qiao, X H

2016-04-01

This study was designed to compare the effects of the anti-human T lymphocyte globulin (Fresenius, ATG-F)and rabbit anti-human thymocyte immunoglobulin (Genzyme, R-ATG)in the treatment of childhood aplastic anemia (AA) and their effects. A total of 59 children with aplastic anemia were analyzed in the present study, including 34 cases of severe aplastic anemia (SAA), 12 cases of very severe aplastic anemia (VSAA) and 13 cases of transfusion-dependent non-severe aplastic anemia (NSAA). While receiving immunosuppressive therapy (IST), 30 and 29 patients, with long-term oral supplement with cyclosporin A (CSA), androgen and Chinese traditional medicines, were treated with ATG-F and R-ATG, respectively. When it was necessary, some supportive cares such as component transfusion and infection control were also employed. Absolute counts of peripheral blood lymphocyte (ALC) at various time points were dynamically detected after ATG therapy. According to the International Aplastic Anemia Treatment and Effect standards. There were no statistically significant differences in the overall response rate (67%(20/30)vs. 69%(20/29), χ(2)=0.036, P=0.676) and the survival rate (87%(26/30)vs. 83%(24/29), χ(2)=0.173, P=0.676) between the ATG-F and R-ATG groups. There were significant and long-term ALC decrease after ATG therapy, the rate of ALC decrease in ATG-F and R-ATG group, the ALC only recovered to 47.8% (ATG-F group) and 47.4% (R-ATG group) of the pre-treatment level respectively. ATG-F 5 mg/(kg·d) and R-ATG 3.75 mg/(kg·d)could achieve similar effects in the treatment of childhood AA, through similar significant clearance of T cells. Therefore, all of these suggest that ATG-F and R-ATG might serve as the drugs of front-line choice for IST in childhood AA patients who do not have an available human leukocyte antigen identical related donor.

AMP-activated protein kinase is involved in the activation of the Fanconi anemia/BRCA pathway in response to DNA interstrand crosslinks.

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Chun, Min Jeong; Kim, Sunshin; Hwang, Soo Kyung; Kim, Bong Sub; Kim, Hyoun Geun; Choi, Hae In; Kim, Jong Heon; Goh, Sung Ho; Lee, Chang-Hun

2016-08-16

Fanconi anemia complementation group (FANC) proteins constitute the Fanconi Anemia (FA)/BRCA pathway that is activated in response to DNA interstrand crosslinks (ICLs). We previously performed yeast two-hybrid screening to identify novel FANC-interacting proteins and discovered that the alpha subunit of AMP-activated protein kinase (AMPKα1) was a candidate binding partner of the FANCG protein, which is a component of the FA nuclear core complex. We confirmed the interaction between AMPKα and both FANCG using co-immunoprecipitation experiments. Additionally, we showed that AMPKα interacted with FANCA, another component of the FA nuclear core complex. AMPKα knockdown in U2OS cells decreased FANCD2 monoubiquitination and nuclear foci formation upon mitomycin C-induced ICLs. Furthermore, AMPKα knockdown enhanced cellular sensitivity to MMC. MMC treatment resulted in an increase in AMPKα phosphorylation/activation, indicating AMPK is involved in the cellular response to ICLs. FANCA was phosphorylated by AMPK at S347 and phosphorylation increased with MMC treatment. MMC-induced FANCD2 monoubiquitination and nuclear foci formation were compromised in a U2OS cell line that stably overexpressed the S347A mutant form of FANCA compared to wild-type FANCA-overexpressing cells, indicating a requirement for FANCA phosphorylation at S347 for proper activation of the FA/BRCA pathway. Our data suggest AMPK is involved in the activation of the FA/BRCA pathway.

The Evidence-Based Evaluation of Iron Deficiency Anemia.

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Hempel, Eliana V; Bollard, Edward R

2016-09-01

Anemia is a prevalent disease with multiple possible etiologies and resultant complications. Iron deficiency anemia is a common cause of anemia and is typically due to insufficient intake, poor absorption, or overt or occult blood loss. Distinguishing iron deficiency from other causes of anemia is integral to initiating the appropriate treatment. In addition, identifying the underlying cause of iron deficiency is also necessary to help guide management of these patients. We review the key components to an evidence-based, cost-conscious evaluation of suspected iron deficiency anemia. Copyright © 2016 Elsevier Inc. All rights reserved.

Etiology of anemia of blood donor candidates deferred by hematologic screening

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Michel Alves da Silva

2012-01-01

Full Text Available OBJECTIVE: Iron deficiency is the most common cause of anemia and one of the main factors in the clinical deferral of blood donors. This fact prompted the current study that aimed to determine the prevalence and etiology of anemia in blood donor candidates and to evaluate the hematological screening technique used for the exclusion of these donors. METHODS: This was a prospective study that compared two groups (Anemic and Non-anemic. Initially screening for anemia was performed by manually measuring hemoglobin (Bioclin® Kit; the results were subsequently compared with an automated screening method (Coulter T-890. The etiology was investigated by hemoglobin electrophoresis in alkaline and acid pH, Hb A2 dosage and measurement of the ferritin concentration by immunoagglutination. Differences and associations of interest were analyzed using the Yates and McNemar's Chi-square tests and the Fisher, Mann-Whitney, Wilcoxon and Kruskal-Wallis tests. RESULTS: The deferral rate due to anemia was 4.2%; iron deficiency was identified in 37.5% and beta thalassemia in 9.3% of the excluded candidates. There was a significant discrepancy between the two techniques used to measure hemoglobin with 38.1% of initially deferred donors presenting normal hemoglobin levels by the automated method. CONCLUSION: The results show a high rate of blood donors being deferred for anemia and confirm that iron deficiency is the most prevalent cause. The discrepancies found by comparing screening methods suggest that hemoglobin and hematocrit levels should be confirmed before deferring a donor due to anemia; this may increase supplies in blood banks.

Electrophysiological changes of Papillary Muscles in Guinea Pigs with iron deficiency anemia and heart failure

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Ling Fan1

2017-04-01

Full Text Available Objective: To investigate the changes of left ventricular papillary muscle action potentials in guinea pigs with iron deficiency anemia and heart failure. Methods: A total of 20 cases of iron deficiency anemia with heart failure were treated with experimental group and 10 normal guinea pigs as control group. Blood samples were collected to determine hemoglobin content, red blood cell number and whole blood iron index, and the changes of cardiac function and hemodynamics were detected by 6 240 biological signal collection system to determine whether the model was successful or not, Intracellular microelectrode technique was used to determine the action potentials of the papillary muscles in the model group and the control group. the potential amplitudes (APA, overshoot values (APA, maximum depolarization rate (Vmax, 20 % of repolarization, 50 % and 90 % of repolarization (APD20, APD50 and APD90 and the average velocity of repolarization were measured. Compare statistical difference between the model group and the control group. Results: 14 cases of model group survived completely, compared with control group, APD50 and APD90 prolonged, and the average velocity decreased. Conclusions: the action potential repolarization duration in the guinea pig papillary muscle of iron deficiency anemia with heart failure is prolonged, and the average repolarization velocity is slow.

The effect of maternal anemia on anthropometric measurements of newborns

International Nuclear Information System (INIS)

Telatar, Berrin; Comert, Serdar; Vitrinel, Ayca; Akin, Yasemin; Erginoz, Ethem

2009-01-01

To evaluate the relation between maternal prenatal hemoglobin concentration and neonatal anthropometric measurements. All pregnant women who gave birth at the Obstetrics Department of Dr. LK Kartal Training and Research Hospital, Istanbul, Turkey, from January 1, 2005 to December 31, 2006, and their newborns were included in this prospective, cross-sectional study. The newborns weight, height, head, and chest circumference were recorded. Mothers with hemoglobin concentration less than 11g/dl were evaluated as anemic. The anemic mothers were then grouped into 3 categories according to the corresponding hemoglobin concentration: mild (10.9-9.0g/dl), moderate (8.9-7.0 g/dl), and severe anemic (less than 7 g/dl). The anthropometric measurements of newborns from non-anemic and anemic mother groups were compared. Of the 3688 pregnant women, 1588 (43%) were found to be anemic. Among the anemic mothers, 1245 had mild (78.5%), 311 had moderate (19.5%), and 32 (2%) had severe anemia. The anthropometric measurements (height, weight, head and chest circumference) of newborns of anemic and non-anemic mother groups showed a statistically significant difference (p=0.036, p=0.044, p=0.013, and p=0.0002). There was a statistically significant difference in height, weight, and chest circumference of newborns of severe anemic and mild anemic mothers (p=0.017, p=0.008 and p=0.02). The height (1.1 cm), weight (260 g), head (0.42 cm), and chest (1 cm) circumference of neonates in the severe anemic group is less than the mild anemic group. Anemia during pregnancy affect the anthropometric measurements of a newborn. Severe anemia had significant negative effect on neonatal anthropometric measurements. (author)

Anemia

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... a hemoglobin value of less than 13.5 gm/dl in a man or less than 12.0 gm/dl in a woman. Normal values for children ... types of anemia cannot be prevented, eating healthy foods can help you avoid both iron-and vitamin- ...

Anemia em adolescentes segundo maturação sexual Anemia among adolescents according to sexual maturation

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Bianca Assunção Iuliano

2004-03-01

Full Text Available OBJETIVO: Verificar a prevalência de anemia em adolescentes (hemoglobina0,05. Observou-se aparente aumento do nível médio de hemoglobina com o desenvolvimento do adolescente. Detectou-se anemia em 11,0% dos adolescentes, a maioria na fase púbere, classificada como ''prevalência leve'' segundo a World Health Organization. Não foi encontrada associação entre indicadores sociais e anemia. CONCLUSÃO: O estudo apontou baixa prevalência de anemia, mas acima do esperado entre púberes de escola particular e indica tendência de aumento dos níveis de hemoglobina com o desenvolvimento sexual dos adolescentes. Devem ser realizados novos estudos de prevalência de anemia para se determinar sua causa entre adolescentes de diferentes níveis socioeconômicos.OBJECTIVE: To assess the prevalence of anemia (hemoglobin level <12g/dL in adolescents, according to their sexual maturation stage. METHODS: A cross-sectional study was conducted with all adolescents enrolled in 5th - 8th grades in a private school in the city of São Paulo. Their hemoglobin level was measured (using Hemocue® and sexual development was self-evaluated (with the aid of pictures of the maturation stages proposed by Tanner. The social indicators evaluated were the per capita family income and maternal schooling. Student t test and non-parametric Kruskal-Wallis test were used for mean comparison and Chi-square-test for associations (p<0.05. RESULTS: We analyzed 118 students, of which 66.9% were females (aged 12.2±1.13 years and 33.1% were males (aged 12.0±1.18 years. The mean hemoglobin level was 13.2±1.08 g/dL for females and 13.3±1.21 g/dL for males, with no significant difference. An apparent increase in the mean hemoglobin level was verified along with sexual development of the adolescents. Anemia was detected in 11% of them, most in the pubertal stage, which is classified by the World Health Organization as ''mild prevalence''. No association was found between social

Impact of anemia prevention by recombinant human erythropoietin on the sensitivity of xenografted glioblastomas to fractionated irradiation

International Nuclear Information System (INIS)

Stueben, G.; Poettgen, C.; Knuehmann, K.; Sack, H.; Stuschke, M.; Thews, O.; Vaupel, P.

2003-01-01

Background: Pronounced oxygen deficiency in tumors which might be caused by a diminished oxygen transport capacity of the blood (e.g., in anemia) reduces the efficacy of ionizing radiation. The aim of this study was to analyze whether anemia prevention by recombinant human erythropoietin (rHuEPO) affects the radiosensitivity of human glioblastoma xenografts during fractionated irradiation. Material and Methods: Anemia was induced by total body irradiation (TBI, 2 x 4 Gy) of mice prior to tumor implantation into the subcutis of the hind leg. In one experimental group, the development of anemia was prevented by rHuEPO (750 U/kg s.c.) given three times weekly starting 10 days prior to TBI. 13 days after tumor implantation (tumor volume approx. 40 mm 3 ), fractionated irradiation (4 x 7 Gy, one daily fraction) of the glioblastomas was performed resulting in a growth delay with subsequent regrowth of the tumors. Results: Compared to nonanemic control animals (hemoglobin concentration cHb = 14.7 g/dl), the growth delay in anemic mice (cHb = 9.9 g/dl) was significantly shorter (49 ± 5 days vs. 79 ± 4 days to reach four times the initial tumor volume) upon fractionated radiation. The prevention of anemia by rHuEPO treatment (cHb = 13.3 g/dl) resulted in a significantly prolonged growth delay (61 ± 5 days) compared to the anemia group, even though the growth inhibition found in control animals was not completely achieved. Conclusions: These data indicate that moderate anemia significantly reduces the efficacy of radiotherapy. Prevention of anemia with rHuEPO partially restores the radiosensitivity of xenografted glioblastomas to fractionated irradiation. (orig.)

Management of Anemia of Inflammation in the Elderly

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Antonio Macciò

2012-01-01

Full Text Available Anemia of any degree is recognized as a significant independent contributor to morbidity, mortality, and frailty in elderly patients. Among the broad types of anemia in the elderly a peculiar role seems to be played by the anemia associated with chronic inflammation, which remains the most complex form of anemia to treat. The origin of this nonspecific inflammation in the elderly has not yet been clarified. It seems more plausible that the oxidative stress that accompanies ageing is the real cause of chronic inflammation of the elderly and that the same oxidative stress is actually a major cause of this anemia. The erythropoietic agents have the potential to play a therapeutic role in this patient population. Despite some promising results, rHuEPO does not have a specific indication for the treatment of anemia in the elderly. Moreover, concerns about their side effects have spurred the search for alternatives. Considering the etiopathogenetic mechanisms of anemia of inflammation in the elderly population, an integrated nutritional/dietetic approach with nutraceuticals that can manipulate oxidative stress and related inflammation may prevent the onset of this anemia and its negative impact on patients’ performance and quality of life.

Management of Anemia of Inflammation in the Elderly

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Macciò, Antonio; Madeddu, Clelia

2012-01-01

Anemia of any degree is recognized as a significant independent contributor to morbidity, mortality, and frailty in elderly patients. Among the broad types of anemia in the elderly a peculiar role seems to be played by the anemia associated with chronic inflammation, which remains the most complex form of anemia to treat. The origin of this nonspecific inflammation in the elderly has not yet been clarified. It seems more plausible that the oxidative stress that accompanies ageing is the real cause of chronic inflammation of the elderly and that the same oxidative stress is actually a major cause of this anemia. The erythropoietic agents have the potential to play a therapeutic role in this patient population. Despite some promising results, rHuEPO does not have a specific indication for the treatment of anemia in the elderly. Moreover, concerns about their side effects have spurred the search for alternatives. Considering the etiopathogenetic mechanisms of anemia of inflammation in the elderly population, an integrated nutritional/dietetic approach with nutraceuticals that can manipulate oxidative stress and related inflammation may prevent the onset of this anemia and its negative impact on patients' performance and quality of life. PMID:23091709

Effect of 131I on the anemia of hyperthyroidism

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Perlman, J.A.; Sternthal, P.M.

1983-01-01

Data from the National Thyrotoxicosis Therapy Follow-Up Study (NTTFS) are presented here to document the existence of anemia in hyperthyroidism, a mild and reversible anemia that is simultaneously ameliorated with reversal of the hyperthyroid state. Among 20,600 women entered into the NTTF study with no previous history of hematological disorders, the prevalence of anemia was found to range from 10-15%, appearing to be higher in those selected for treatment with 131I when compared to those selected for surgery. An attempt is made to verify the recent hypothesis that thyroid hormone levels in the supraphysiologic range may suppress erythrogenesis. Two statistically significant regression models are consistent with a hypothesis of thyrotoxic bone marrow suppression. However, both associations are weak enough to suggest that some other physiologic improvement underlies the amelioration of anemia when hyperthyroidism is reversed. The degree of improvement in hematological status is similar for women in both treatment groups. Among 4464 women for whom serial hematological tests are obtained, over 3/4 of anemic patients are no longer anemic after an average 6.2 yr of follow-up. Clinicians are reassured that radioactive iodine exposure causes no further insult to the bone marrow, no matter what the cumulative dosage. The highly fractionated low dose bone marrow exposures to radiation account for the minimal hematological risks of 131I treatment.

Effect of 131I on the anemia of hyperthyroidism

International Nuclear Information System (INIS)

Perlman, J.A.; Sternthal, P.M.

1983-01-01

Data from the National Thyrotoxicosis Therapy Follow-Up Study (NTTFS) are presented here to document the existence of anemia in hyperthyroidism, a mild and reversible anemia that is simultaneously ameliorated with reversal of the hyperthyroid state. Among 20,600 women entered into the NTTF study with no previous history of hematological disorders, the prevalence of anemia was found to range from 10-15%, appearing to be higher in those selected for treatment with 131I when compared to those selected for surgery. An attempt is made to verify the recent hypothesis that thyroid hormone levels in the supraphysiologic range may suppress erythrogenesis. Two statistically significant regression models are consistent with a hypothesis of thyrotoxic bone marrow suppression. However, both associations are weak enough to suggest that some other physiologic improvement underlies the amelioration of anemia when hyperthyroidism is reversed. The degree of improvement in hematological status is similar for women in both treatment groups. Among 4464 women for whom serial hematological tests are obtained, over 3/4 of anemic patients are no longer anemic after an average 6.2 yr of follow-up. Clinicians are reassured that radioactive iodine exposure causes no further insult to the bone marrow, no matter what the cumulative dosage. The highly fractionated low dose bone marrow exposures to radiation account for the minimal hematological risks of 131I treatment

Management of Iron Deficiency Anemia

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Jimenez, Kristine; Kulnigg-Dabsch, Stefanie

2015-01-01

Anemia affects one-fourth of the world’s population, and iron deficiency is the predominant cause. Anemia is associated with chronic fatigue, impaired cognitive function, and diminished well-being. Patients with iron deficiency anemia of unknown etiology are frequently referred to a gastroenterologist because in the majority of cases the condition has a gastrointestinal origin. Proper management improves quality of life, alleviates the symptoms of iron deficiency, and reduces the need for blood transfusions. Treatment options include oral and intravenous iron therapy; however, the efficacy of oral iron is limited in certain gastrointestinal conditions, such as inflammatory bowel disease, celiac disease, and autoimmune gastritis. This article provides a critical summary of the diagnosis and treatment of iron deficiency anemia. In addition, it includes a management algorithm that can help the clinician determine which patients are in need of further gastrointestinal evaluation. This facilitates the identification and treatment of the underlying condition and avoids the unnecessary use of invasive methods and their associated risks. PMID:27099596

Unexpected Anemia and Reticulocytopenia in an Adolescent With Sickle Cell Anemia Receiving Chronic Transfusion Therapy.

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Blauel, Emily R; Grossmann, Lily T; Vissa, Madhav; Miller, Scott T

2015-10-01

In a patient with sickle cell disease receiving chronic transfusion, exacerbation of anemia with reticulocytopenia must prompt consideration of a delayed hemolytic transfusion reaction with hyperhemolysis, as further transfusion may worsen this condition; definitive diagnosis is sometimes difficult. Anemia evolving during parvovirus B19-induced erythroid hypoplasia (transient aplastic crisis) should be attenuated in chronic transfusion patients due to superior survival of transfused over endogenous red blood cells. A 16-year-old with sickle cell disease receiving chronic transfusion of modified intensity (goal to maintain hemoglobin S<50%) who developed symptomatic anemia with reticulocytopenia was later shown to have had transient aplastic crisis.

Potential effects of omega-3 fatty acids on anemia and inflammatory markers in maintenance hemodialysis patients.

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Gharekhani, Afshin; Khatami, Mohammad-Reza; Dashti-Khavidaki, Simin; Razeghi, Effat; Abdollahi, Alireza; Hashemi-Nazari, Seyed-Saeed; Mansournia, Mohammad-Ali

2014-01-07

Anemia is a common complication among hemodialysis (HD) patients. Although intravenous iron and erythropoiesis-stimulating agents revolutionized anemia treatment, about 10% of HD patients show suboptimal response to these agents. Systemic inflammation and increased serum hepcidin level may contribute to this hyporesponsiveness. Considering the anti-inflammatory properties of omega-3 fatty acids, this study aimed to evaluate potential role of these fatty acids in improving anemia and inflammation of chronic HD patients. In this randomized, placebo-controlled trial, 54 adult patients with HD duration of at least 3 months were randomized to ingest 1800 mg of either omega-3 fatty acids or matching placebo per day for 4 months. Anemia parameters including blood hemoglobin, serum iron, transferrin saturation (TSAT), erythropoietin resistance index, and required dose of intravenous iron and erythropoietin, and serum concentrations of inflammatory/anti-inflammatory markers including interleukin (IL)-6, tumor necrosis factor (TNF)-α, IL-10, C-reactive protein (CRP), hepcidin, ferritin, intact parathyroid hormone (iPTH), and ratios of IL-10 to IL-6 and IL-10 to TNF-α were measured at baseline and after 4 months of the intervention. 45 subjects (25 in the omega-3 and 20 in the placebo group) completed the study. No significant changes were observed in blood hemoglobin, serum iron, TSAT, and required dose of intravenous iron in either within or between group comparisons. Additionally, erythropoietin resistance index as well as required dose of intravenous erythropoietin showed no significant change in the omega-3 group compared to the placebo group. Although a relative alleviation in inflammatory state appeared in the omega-3 group, the mean differences of inflammatory and anti-inflammatory markers between the two groups did not reach statistically significant level except for IL-10-to-IL-6 ratio and serum ferritin level which showed significant changes in favor of omega-3

Genomic amplification of Fanconi anemia complementation group A (FancA) in head and neck squamous cell carcinoma (HNSCC): Cellular mechanisms of radioresistance and clinical relevance.

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Hess, Julia; Unger, Kristian; Orth, Michael; Schötz, Ulrike; Schüttrumpf, Lars; Zangen, Verena; Gimenez-Aznar, Igor; Michna, Agata; Schneider, Ludmila; Stamp, Ramona; Selmansberger, Martin; Braselmann, Herbert; Hieber, Ludwig; Drexler, Guido A; Kuger, Sebastian; Klein, Diana; Jendrossek, Verena; Friedl, Anna A; Belka, Claus; Zitzelsberger, Horst; Lauber, Kirsten

2017-02-01

Radio (chemo) therapy is a crucial treatment modality for head and neck squamous cell carcinoma (HNSCC), but relapse is frequent, and the underlying mechanisms remain largely elusive. Therefore, novel biomarkers are urgently needed. Previously, we identified gains on 16q23-24 to be associated with amplification of the Fanconi anemia A (FancA) gene and to correlate with reduced progression-free survival after radiotherapy. Here, we analyzed the effects of FancA on radiation sensitivity in vitro, characterized the underlying mechanisms, and evaluated their clinical relevance. Silencing of FancA expression in HNSCC cell lines with genomic gains on 16q23-24 resulted in significantly impaired clonogenic survival upon irradiation. Conversely, overexpression of FancA in immortalized keratinocytes conferred increased survival accompanied by improved DNA repair, reduced accumulation of chromosomal translocations, but no hyperactivation of the FA/BRCA-pathway. Downregulation of interferon signaling as identified by microarray analyses, enforced irradiation-induced senescence, and elevated production of the senescence-associated secretory phenotype (SASP) appeared to be candidate mechanisms contributing to FancA-mediated radioresistance. Data of the TCGA HNSCC cohort confirmed the association of gains on 16q24.3 with FancA overexpression and impaired overall survival. Importantly, transcriptomic alterations similar to those observed upon FancA overexpression in vitro strengthened the clinical relevance. Overall, FancA amplification and overexpression appear to be crucial for radiotherapeutic failure in HNSCC. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

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... Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia syndrome Printable PDF Open All Close All Enable ... the expand/collapse boxes. Description Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing ...

9 CFR 311.34 - Anemia.

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2010-01-01

... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE AGENCY ORGANIZATION... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses of...

Family structure and child anemia in Mexico.

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Schmeer, Kammi K

2013-10-01

Utilizing longitudinal data from the nationally-representative Mexico Family Life Survey, this study assesses the association between family structure and iron-deficient anemia among children ages 3-12 in Mexico. The longitudinal models (n = 4649), which control for baseline anemia status and allow for consideration of family structure transitions, suggest that children living in stable-cohabiting and single-mother families and those who have recently experienced a parental union dissolution have higher odds of anemia than those in stable-married, father-present family structures. Interaction effects indicate that unmarried family contexts have stronger associations with anemia in older children (over age five); and, that the negative effects of parental union dissolution are exacerbated in poorer households. Resident maternal grandparents have a significant beneficial effect on child anemia independent of parental family structure. These results highlight the importance of family structure for child micronutrient deficiencies and suggest that understanding social processes within households may be critical to preventing child anemia in Mexico. Copyright © 2012 Elsevier Ltd. All rights reserved.

Tissue Factor and Thrombin in Sickle Cell Anemia

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Chantrathammachart, Pichika; Pawlinski, Rafal

2012-01-01

Sickle cell anemia is an inherited hematologic disorder associated with hemolytic and vaso-occlusive complications. An activation of coagulation is also a prominent feature of sickle cell anemia. Growing evidence indicates that coagulation may contribute to the inflammation and vascular injury in sickle cell anemia. This review focuses on tissue factor expression and its contribution to the activation of coagulation, thrombosis and vascular inflammation in sickle cell anemia.

Incidence and risk factors of aplastic anemia in Latin American countries: the LATIN case-control study

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Maluf, Eliane; Hamerschlak, Nelson; Cavalcanti, Alexandre Biasi; Júnior, Álvaro Avezum; Eluf-Neto, José; Falcão, Roberto Passetto; Lorand-Metze, Irene G.; Goldenberg, Daniel; Santana, Cézar Leite; de Oliveira Werneck Rodrigues, Daniela; da Motta Passos, Leny Nascimento; Rosenfeld, Luis Gastão Mange; Pitta, Marimilia; Loggetto, Sandra; Feitosa Ribeiro, Andreza A.; Velloso, Elvira Deolinda; Kondo, Andrea Tiemi; de Miranda Coelho, Erika Oliveira; Pintão, Maria Carolina Tostes; de Souza, Hélio Moraes; Borbolla, José Rafael; Pasquini, Ricardo

2009-01-01

Background Associations between aplastic anemia and numerous drugs, pesticides and chemicals have been reported. However, at least 50% of the etiology of aplastic anemia remains unexplained. Design and Methods This was a case-control, multicenter, multinational study, designed to identify risk factors for agranulocytosis and aplastic anemia. The cases were patients with diagnosis of aplastic anemia confirmed through biopsy or bone marrow aspiration, selected through an active search of clinical laboratories, hematology clinics and medical records. The controls did not have either aplastic anemia or chronic diseases. A total of 224 patients with aplastic anemia were included in the study, each case was paired with four controls, according to sex, age group, and hospital where the case was first seen. Information was collected on demographic data, medical history, laboratory tests, medications, and other potential risk factors prior to diagnosis. Results The incidence of aplastic anemia was 1.6 cases per million per year. Higher rates of benzene exposure (≥30 exposures per year) were associated with a greater risk of aplastic anemia (odds ratio, OR: 4.2; 95% confidence interval, CI: 1.82–9.82). Individuals exposed to chloramphenicol in the previous year had an adjusted OR for aplastic anemia of 8.7 (CI: 0.87–87.93) and those exposed to azithromycin had an adjusted OR of 11.02 (CI 1.14–108.02). Conclusions The incidence of aplastic anemia in Latin America countries is low. Although the research study centers had a high coverage of health services, the underreporting of cases of aplastic anemia in selected regions can be discussed. Frequent exposure to benzene-based products increases the risk for aplastic anemia. Few associations with specific drugs were found, and it is likely that some of these were due to chance alone. PMID:19734415

Determinants of anemia among 6-59 months aged children in Bangladesh: evidence from nationally representative data.

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Khan, Jahidur Rahman; Awan, Nabil; Misu, Farjana

2016-01-11

Anemia is a global public health problem but the burden of anemia is disproportionately borne among children in developing countries. Anemia in early stages of life has serious consequences on the growth and development of the children. We examine the prevalence of anemia, possible association between anemia and different socio-economic, demographic, health and other factors among children with ages from 6 to 59 months from the nationally representative 2011 Bangladesh Demographic and Health Survey (BDHS). Data on hemoglobin (Hb) concentration among the children aged 6-59 months from the most recent BDHS (2011) were used. This nationally representative survey allowed a multistage stratified cluster sampling design and provided data on a wide range of indicators such as fertility, mortality, women and child health, nutrition and other background characteristics. Anemia status was determined using hemoglobin level (<11.0 g/dl), and weighted prevalence of childhood anemia along with 95 % confidence intervals were provided. We also examined the distribution of weighted anemia prevalence across different groups and performed logistic regression to assess the association of anemia with different factors. A total of 2171 children aged 6-59 months were identified for this analysis, with weighted prevalence of anemia being 51.9 % overall- 47.4 % in urban and 53.1 % in rural regions. Results of a multivariable logistic regression analysis showed that, children below 24 months of age (odds ratio, [OR] 3.01; 95 % confidence interval [CI] 2.38-3.81), and those from an anemic mother (OR 1.80; 95 % CI 1.49-2.18) were at higher risk of anemia. Childhood anemia was significantly associated with chronic malnutrition of child, source of drinking water, household wealth and geographical location (defined by division). A high prevalence of anemia among 6-59 months aged children was observed in Bangladesh. Given the negative impact of anemia on the development of children in

Iron Deficiency, Anemia and Mortality in Renal Transplant Recipients

NARCIS (Netherlands)

Eisenga, Michele F.; Minovic, Isidor; Berger, Stefan P.; Kootstra-Ros, Jenny E.; van den Berg, Else; Riphagen, Ineke J.; Navis, Gerjan; van der Meer, Peter; Bakker, Stephan J. L.; Gaillard, Carlo A. J. M.

Anemia, iron deficiency anemia (IDA), and iron deficiency (ID) are highly prevalent in renal transplant recipients (RTR). Anemia is associated with poor outcome, but the role of ID is unknown. Therefore, we aimed to investigate the association of ID, irrespective of anemia, with all-cause mortality

Iron Deficiency, Anemia and Mortality in Renal Transplant Recipients

NARCIS (Netherlands)

Eisenga, Michele F.; Minovic, Isidor; Berger, Stefan P; Kootstra-Ros, Jenny E.; van den Berg, Else; Riphagen, Ineke J.; Navis, Gerjan J.; Van der Meer, Peter; Bakker, Stephan J. L.; Gaillard, Carlo A. J. M.

2016-01-01

Anemia, iron deficiency anemia (IDA), and iron deficiency (ID) are highly prevalent in renal transplant recipients (RTR). Anemia is associated with poor outcome, but the role of ID is unknown. Therefore, we aimed to investigate the association of ID, irrespective of anemia, with all-cause mortality

Anemia in Mexican women: results of two national probabilistic surveys Anemia en mujeres mexicanas: resultados de dos encuestas nacionales probabilísticas

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Teresa Shamah-Levy

2009-01-01

Full Text Available OBJECTIVE: To describe the prevalence of anemia in Mexican women and analyze its trends with information from the last two national nutrition surveys. MATERIAL AND METHODS: The prevalence of anemia in women was analyzed. Anemia was adjusted by socioeconomic profile and by potentially explanatory variables. RESULTS: The overall prevalence of anemia for pregnant women was 20.2% (95% CI 15.9, 26.2% and 15.5% for non-pregnant women (95% CI 14.7, 16.4%. The prevalence of anemia in women decreased from 1999 to 2006 in all socioeconomic profiles. Adolescent women living in the northern and in the southern regions had a greater risk of anemia than those in Mexico City (p= 0.05. Significant risk was found among low socioeconomic level (pOBJETIVO: Describir la prevalencia de anemia en mujeres y analizar su tendencia a través de las dos últimas encuestas nacionales de nutrición. MATERIAL Y MÉTODOS: Se analizó la prevalencia de anemia en mujeres. La prevalencia de anemia se ajustó por perfil socioeconómico y por posibles variables que la expliquen. RESULTADOS: La prevalencia global de anemia fue de 20.2% (IC95% 15.9, 26.2% para mujeres embarazadas y de 15.5% (IC95% 14.7, 16.4% para mujeres no embarazadas. La prevalencia de anemia en mujeres disminuyó de 1999 a 2006 en todos los niveles socioeconómicos. Las mujeres adolescentes que viven en las regiones norte y sur tuvieron mayor riesgo de anemia que las que viven en la Ciudad de México (p= 0.05. Se encontró un riesgo significativo asociado con el nivel socioeconómico bajo (p< 0.06. La mayor paridad resultó ser un factor de riesgo significativo (p< 0.05. CONCLUSIONES: Aun cuando la presencia de anemia en mujeres en edad reproductiva en México ha disminuido, continúa siendo un problema de salud pública.

The influence of hydroxyurea on oxidative stress in sickle cell anemia

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Lidiane de Souza Torres

2012-01-01

Full Text Available OBJECTIVE: The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. METHODS: Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. RESULTS: Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001. The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione. Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040 and lower hemoglobin F concentrations(r = -0.52; p = 0.0067. On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111 and positively associated with hemoglobin F values (r = 0.56; p = 0.0031. CONCLUSION: Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

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Sethi, M; Lehmann, A R; Fawcett, H; Stefanini, M; Jaspers, N; Mullard, K; Turner, S; Robson, A; McGibbon, D; Sarkany, R; Fassihi, H

2013-12-01

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn. © 2013 British Association of

PENDAMPINGAN MINUM TABLET TAMBAH DARAH (TTD DAPAT MENINGKATKAN KEPATUHAN KONSUMSI TTD PADA IBU HAMIL ANEMIA

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Aditianti Aditianti

2015-12-01

Full Text Available ABSTRACTAnemia contributed 20 persen the death of pregnancy. Low consumption of iron is one of the cause of anemia prevalences among pregnant women. Iron intake can be gained from iron tablet. However the iron tabletconsumption still very low. The purpose of this study was to obtain the role of family and posyandu kadre support to the compliance of iron tablet consumption among anemic pregnant women and its relation tohaemoglobin levels of anemic pregnant women. The research design was quasi experimental Anemic pregnant women as a sample respondens were divided into two groups, 29 in the intervention group and 32 in thecontrol group. The study was conducted at Cibungbulang and Pamijahan sub district, Bogor. Compliance measurements using MMAS - 8 (Morisky Medication Adherence Scale - 8 questionnaires. Compliance of irontablet consumption categorized by low, middle and high. The intervention was counseling about anemia and how important iron tablet consumption among pregnant women to their family (husband/parents/in-laws/otherclose relatives or posyandu cadre whose lived in the same house or as their neighbour. Data analysis was performed using Chi - square and different t-test. The results showed that the anemic pregnant women withsupport from their family and posyandu cadre improve their compliance of iron tablet (p< 0,05.Keywords: anemia, iron tablet, family and posyandu cadre support, complianceABSTRAKAnemia memberikan kontribusi hingga 20 persen terhadap semua kematian pada kehamilan. Salah satu penyebab tingginya prevalensi anemia adalah rendahnya asupan zat besi. Salah satu sumber asupan zat besi berasal dari tablet tambah darah (TTD, namun kepatuhan mengonsumsinya masih sangat rendah. Tujuan penelitian ini adalah mendapatkan pengaruh peran pendamping terhadap kepatuhan konsumsi TTD dan hubungannya dengan kadar hemoglobin (Hb ibu hamil anemia. Desain penelitian adalah kuasi eksperimen. Responden adalah ibu hamil anemia, yang dibagi menjadi

Multidisciplinary approach to anemia

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Anca Ghiațău

2015-08-01

Full Text Available Introduction: We present the case of a 65 years- old woman who was admitted with a severe macrocytic anemia Hb= 5.7g/dl and diffuse bone pain. Biologically she has moderate thrombocytopenia 35 000/µl, a hepatic cytolysis and cholestatic syndrome. Material and method: The patient was extensively evaluated before presentation for a mild iron - deficiency anemia for which she underwent endoscopic examination of the upper and lower gastrointestinal tract- normal. The bone marrow aspiration on admission revealed a marked hyperplasia of the erythroblastic line with ~50% basophilic erythroblasts suggesting a regenerative erythroid hyperplasia. These changes along with the marked reticulocytosis on the peripheral blood smear oriented us towards a hemolytic anemia; Folic acid, vitamin B12, autoimmune tests and hemolytic tests were all normal. We continued the investigations with a thoraco-abdominopelvic computed tomography which identified diffuse demineralization, vertebral compactation and pelvic stress fractures. The breast examination revealed a right breast nodule, but the breast ultrasonography pleaded for benignity. Lacking a clear definitive diagnosis we decided to perform a bone marrow biopsy. Results: The osteo- medullary biopsy pointed towards a medullar invasion from a lobular mammary carcinoma; In these circumstances we performed an ultrasound guided biopsy of the right mammary lump thus histologically confirming a tumoral invasion of the bone marrow with subsequent anemia. The patient started chemotherapy in the Oncology ward. Conclusion: The particularity of this case consists in the pattern of anemia, which initially seemed iron deficient and afterwards macrocytic – apparently hemolytic and was actually due to the tumoral medullar invasion and also the nonspecific ultrasonographic appearance of the breast tumor.

Factors Associated with Anemia in the Institutionalized Elderly.

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Emanuelle Cruz da Silva

Full Text Available As a common problem in long-term care facilities (LTCFs, anemia affects 25-63% of the elderly. The aim of the present study was to describe the prevalence and characteristics of anemia and its associated factors in the institutionalized elderly. The cross-sectional study was carried out with three hundred thirteen individuals aged ≥ 60 years, of both genders, living in long-term care facilities for the elderly in Salvador, Bahia, Brazil. Poisson regression (PR with robust variance estimates was used to assess the factors related to anemia. The prevalence of anemia was 38%. Mild anemia was predominant in both genders (male: 26.8%; female: 21.1%, as normocytic and normochromic anemia, with no anisocytosis (69.75%. Anemia was associated with thinness (PR: 1.68; 95% CI: 1.04-2.72 and with moderate (PR: 1.98; 95% CI: 1.07-3.63 and total (PR: 2.61; 95% CI: 1.34-5.07 dependence in the final model. Severe dependence exhibited borderline significance (PR: 1.94; 95% CI: 1.00-3.77. The prevalence of anemia was high in the institutionalized elderly in both genders, with characteristics suggesting chronic diseases as the causal factor, and the frequency of occurrence was higher in thinness elderly with moderate to total dependence.

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a

DEFF Research Database (Denmark)

Rathe, Mathias; Møller, Michael Boe; Greisen, Pernille Wied

2018-01-01

The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient...... presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull...

Using of information–motivation–behavioral skills model on nutritional behaviors in controlling anemia among girl students

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Nooshin Peyman

2017-06-01

Full Text Available High prevalence of iron deficiency anemia is the most common nutritional problem worldwide, which also is reported among Iranian adolescent girls. This problem results from the inadequate intake of dietary iron or low iron intake in diet. Regarding the application of health education models, the aim of this study was to determine the effect of educational program based on Information–Motivation–Behavioral skills (IMB model in relation to preventive nutritional behaviors against iron deficiency anemia. In this study, 120 participants were selected among Iranian high school girls. The participants were equally allocated to experimental and control groups. The educational intervention was performed as a four-hour workshop designed based on the IMB model constructs for the experimental group. The data were collected using a standard questionnaire based on the IMB constructs, measuring body mass index, and determining average heme iron consumption. The data were gathered before and 3 months after the intervention. The experimental group after the intervention showed a significant increase compared to the control group in the mean scores of IMB with regard to nutritional iron deficiency anemia. In the experimental group, the average daily intake of dietary heme iron increased by 0.10±0.52 mg. Regarding the positive effect of education in promoting iron-rich diets in high school girls, workshops based on the IMB model are suggested to be held in schools aiming at preventing iron deficiency anemia.

Prevention of hypoxic fetal complications in pregnant women with congenital heart disease and anemia

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Iu. Davydova

2016-06-01

Full Text Available The aim of the study is — to develop a strategy of prevention of hypoxic fetal abnormalities in pregnant women with congenital heart disease, heart failure and iron deficiency anemia. Materials and methods. The study included 86 pregnant women with CHD and NYHA II–III. 68 women in the third trimester of pregnancy is diagnosed anemia (group I, 18 pregnant women with CHD, NYHA II–III without anemia (II group, the control group consisted of 24 pregnant women without cardiac disease, with physiological pregnancy. All pregnant with information registration consent studied the concentration of ferritin, hemoglobin level, morphological study of the placenta. All pregnant women were assigned to iron supplements, oral iron (III hydroxide polymaltose complex (Maltofer when hemoglobin levels above 95 g/l and the expected delivery date more than 40 days of starting treatment. When the hemoglobin level below 95 g/l of intravenously administered iron (III hydroxide sucrose complex (Venofer followed by transfer to oral iron (III. Results. In groups of pregnant I and II did not have perinatal losses, births in gestation less than 28 weeks, with a score Apgar at birth of less than 4 points. Pregnant women with cyanotic heart defects and the need for early delivery in less than 37 weeks are not included in the study. Also, there is a correlation between the degree of severity of anemia in women with CHD with HF and prematurity, and the presence of IUGR child birth asphyxia able to varying degrees (respectively, r=0.8, r=0.75 and r=0.85. Conclusions. Formation of fetoplacental unit in women with CHD on a background of heart failure occurs with complications associated with the presence of tissue hypoxia, as well as the possible impact on the process of oxidative stress. The development of iron deficiency anemia in this group is an additional risk factor for placental dysfunction, which is confirmed by morphometric and morphological studies of placentas

Genetics Home Reference: congenital dyserythropoietic anemia

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... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

FastStats: Anemia or Iron Deficiency

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... this? Submit What's this? Submit Button NCHS Home Anemia or Iron Deficiency Recommend on Facebook Tweet Share ... visits Number of visits to emergency departments with anemia as the primary hospital discharge diagnosis: 188,000 ...

Treatment of anemia with darbepoetin alfa in systolic heart failure

DEFF Research Database (Denmark)

Swedberg, Karl; Young, James B; Anand, Inder S

2013-01-01

Patients with systolic heart failure and anemia have worse symptoms, functional capacity, and outcomes than those without anemia. We evaluated the effects of darbepoetin alfa on clinical outcomes in patients with systolic heart failure and anemia.......Patients with systolic heart failure and anemia have worse symptoms, functional capacity, and outcomes than those without anemia. We evaluated the effects of darbepoetin alfa on clinical outcomes in patients with systolic heart failure and anemia....

Prevalence and severity of anemia and iron deficiency: cross-sectional studies in adolescent schoolgirls in western Kenya

NARCIS (Netherlands)

Leenstra, T.; Kariuki, S. K.; Kurtis, J. D.; Oloo, A. J.; Kager, P. A.; ter Kuile, F. O.

2004-01-01

Objective: Anemia is a major public health concern in preschool children and pregnant women in the developing world. While many studies have examined these two at-risk groups, there is a paucity of data on anemia in adolescents living in developing countries in the complex ecologic context of

Prevalence and Correlates of Maternal Anemia in Rural Sidama ...

African Journals Online (AJOL)

In order to assess the prevalence and correlates of prenatal anemia, a survey was conducted among 700 randomly selected pregnant women in rural Sidama, Southern Ethiopia. The prevalences of anemia, Iron Deficiency (ID) and ID anemia were 31.6%, 17.4% and 8.7%, respectively. The burden of anemia was ...

Prevalencia de anemia ferropénica en escolares y adolescentes, Medellín, Colombia, 1999 Prevalence of iron-deficiency anemia in schoolchildren and adolescents, Medellín, Colombia, 1999

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Gloria M. Agudelo

2003-06-01

urban area of the city of Medellín, Colombia, in the 1999­2000 school year and (2 to explore the associations that age group, sex, socioeconomic class, and intestinal parasitism show with iron-deficiency anemia and iron deficiency. METHODS: A cross-sectional study was carried out among 960 students from 6 to 18 years old who were selected by simple random sampling after stratified multistage sampling and clustering in public and private schools in districts of Medellín. Body iron content was evaluated by determining ferritin and hemoglobin levels, average corpuscular volume, and amplitude of the erythrocyte distribution; the presence of intestinal parasites was evaluated through stool analysis; nutritional status was evaluated by means of anthropometric measurements; and consumption of iron and vitamin C was evaluated using a semiquantitative questionnaire on food intake. In order to define the cases of iron-deficiency anemia and of iron deficiency we used the standard definitions of the World Health Organization, based on ferritin and hemoglobin values. We used nonparametric tests, with a significance level of 0.05, to examine the associations between age group, sex, socioeconomic class, and the presence of intestinal parasites on the one hand and the presence of anemia on the other hand. RESULTS: The prevalence of iron deficiency was 4.9%, and the prevalence of iron-deficiency anemia was 0.6%. The prevalence of both was higher among adolescent women (P < 0.05 than in the rest of the sample studied. No significant association was found between the presence of intestinal parasites and the presence of anemia. The average daily consumption of iron (± standard deviation was 5.5 mg (± 2.3 mg (32% ± 15% of the recommended dietary intake for the studied age group; the average contribution of serum iron in the diet was 0.7 mg (± 0.7 mg. Comparing the children who did and who did not have anemia, there were no significant differences in iron consumption and the type of

Correction of anemia in pregnancy

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Analía Cánepa

2015-11-01

Se observó que en el 50% de las pacientes estudiadas no se logró corregir la anemia. Concluimos que existe una dificultad en la corrección de la anemia y una necesidad de realizar futuros estudios que permitan conocer las causas de este problema e implementar acciones en base a ellas.

Complementation analysis of ataxia-telangiectasia

International Nuclear Information System (INIS)

Jaspers, N.G.; Painter, R.B.; Paterson, M.C.; Kidson, C.; Inoue, T.

1985-01-01

In a number of laboratories genetic analysis of ataxia-telangiectasia (AT) has been performed by studying the expression of the AT phenotype in fused somatic cells or mixtures of cell-free extracts from different patients. Complementation of the defective response to ionizing radiation was observed frequently, considering four different parameters for radiosensitivity in AT. The combined results from studies on cultured fibroblasts or lymphoblastoid cells from 17 unrelated families revealed the presence of at least four and possibly nine complementation groups. These findings suggest that there is an extensive genetic heterogeneity in AT. More extensive studies are needed for an integration of these data and to provide a set of genetically characterized cell strains for future research of the AT genetic defect

Systemic complement activation in age-related macular degeneration.

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Hendrik P N Scholl

Full Text Available Dysregulation of the alternative pathway (AP of complement cascade has been implicated in the pathogenesis of age-related macular degeneration (AMD, the leading cause of blindness in the elderly. To further test the hypothesis that defective control of complement activation underlies AMD, parameters of complement activation in blood plasma were determined together with disease-associated genetic markers in AMD patients. Plasma concentrations of activation products C3d, Ba, C3a, C5a, SC5b-9, substrate proteins C3, C4, factor B and regulators factor H and factor D were quantified in patients (n = 112 and controls (n = 67. Subjects were analyzed for single nucleotide polymorphisms in factor H (CFH, factor B-C2 (BF-C2 and complement C3 (C3 genes which were previously found to be associated with AMD. All activation products, especially markers of chronic complement activation Ba and C3d (p<0.001, were significantly elevated in AMD patients compared to controls. Similar alterations were observed in factor D, but not in C3, C4 or factor H. Logistic regression analysis revealed better discriminative accuracy of a model that is based only on complement activation markers Ba, C3d and factor D compared to a model based on genetic markers of the complement system within our study population. In both the controls' and AMD patients' group, the protein markers of complement activation were correlated with CFH haplotypes.This study is the first to show systemic complement activation in AMD patients. This suggests that AMD is a systemic disease with local disease manifestation at the ageing macula. Furthermore, the data provide evidence for an association of systemic activation of the alternative complement pathway with genetic variants of CFH that were previously linked to AMD susceptibility.

The science and practice of micronutrient supplementations in nutritional anemia: an evidence-based review.

Science.gov (United States)

Chan, Lingtak-Neander; Mike, Leigh Ann

2014-08-01

Nutritional anemia is the most common type of anemia, affecting millions of people in all age groups worldwide. While inadequate access to food and nutrients can lead to anemia, patients with certain health status or medical conditions are also at increased risk of developing nutritional anemia. Iron, cobalamin, and folate are the most recognized micronutrients that are vital for the generation of erythrocytes. Iron deficiency is associated with insufficient production of hemoglobin. Deficiency of cobalamin or folate leads to impaired synthesis of deoxyribonucleic acid, proteins, and cell division. Recent research has demonstrated that the status of copper and zinc in the body can significantly affect iron absorption and utilization. With an increasing number of patients undergoing bariatric surgical procedures, more cases of anemia associated with copper and zinc deficiencies have also emerged. The intestinal absorption of these 5 critical micronutrients are highly regulated and mediated by specific apical transport mechanisms in the enterocytes. Health conditions that persistently alter the histology of the upper intestinal architecture, expression, or function of these substrate-specific transporters, or the normal digestion and flow of these key micronutrients, can lead to nutritional anemia. The focus of this article is to review the science of intestinal micronutrient absorption, discuss the clinical assessment of micronutrient deficiencies in relation to anemia, and suggest an effective treatment plan and monitoring strategies using an evidence-based approach. © 2014 American Society for Parenteral and Enteral Nutrition.

The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex.

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Garcia-Higuera, I; Kuang, Y; Denham, J; D'Andrea, A D

2000-11-01

Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with 8 complementation groups. Four of the FA genes have been cloned, and at least 3 of the encoded proteins, FANCA, FANCC, and FANCG/XRCC9, interact in a multisubunit protein complex. The FANCG protein binds directly to the amino terminal nuclear localization sequence (NLS) of FANCA, suggesting that FANCG plays a role in regulating FANCA nuclear accumulation. In the current study the functional consequences of FANCG/FANCA binding were examined. Correction of an FA-G cell line with the FANCG complementary DNA (cDNA) resulted in FANCA/FANCG binding, prolongation of the cellular half-life of FANCA, and an increase in the nuclear accumulation of the FA protein complex. Similar results were obtained upon correction of an FA-A cell line, with a reciprocal increase in the half-life of FANCG. Patient-derived mutant forms of FANCA, containing an intact NLS sequence but point mutations in the carboxy-terminal leucine zipper region, bound FANCG in the cytoplasm. The mutant forms failed to translocate to the nucleus of transduced cells, thereby suggesting a model of coordinated binding and nuclear translocation. These results demonstrate that the FANCA/FANCG interaction is required to maintain the cellular levels of both proteins. Moreover, at least one function of FANCG and FANCA is to regulate the nuclear accumulation of the FA protein complex. Failure to accumulate the nuclear FA protein complex results in the characteristic spectrum of clinical and cellular abnormalities observed in FA.

Aplastic anemia due to radiation

International Nuclear Information System (INIS)

Sakai, Kunio; Saito, Akira

1978-01-01

The relationship between radiation exposure and aplastic anemia, clarified previously, is discussed. When persons such as radiological technicians receive whole-body irradiation in rather large doses, it is possible that aplastic anemia will result later on. However, this is difficult to determine because the irradiated region is limited despite large doses of radiation. (Bell, E.)

Prevalence of Anemia in Latin America and the Caribbean.

Science.gov (United States)

Mujica-Coopman, María F; Brito, Alex; López de Romaña, Daniel; Ríos-Castillo, Israel; Coris, Héctor; Olivares, Manuel

2015-06-01

In Latin America and the Caribbean, anemia has been a public health problem that affects mainly women of childbearing age and children under 6 years of age. However, the current prevalence of anemia in this region is unknown. To examine the latest available prevalence data on anemia in Latin America and the Caribbean. A systematic review was conducted in 2011 and updated in 2014. Studies determining the prevalence of anemia conducted in apparently healthy populations with national or regional representativeness were included in the review. The lowest prevalence rates of anemia among children under 6 years of age were found in Chile (4.0%), Costa Rica (4.0%), Argentina (7.6%), and Mexico (19.9%). In Nicaragua, Brazil, Ecuador, El Panama, and Honduras, anemia was a moderate public health problem, with prevalence ranging Salvador, Cuba, Colombia, the Dominican Republic, Peru, from 20.1% to 37.3%. Anemia was a severe public health problem in Guatemala, Haiti, and Bolivia. The prevalence of anemia among women of childbearing age was lowest in Chile (5.1%). In Colombia, El Salvador, Costa Rica, Nicaragua, Ecuador, Mexico, Peru, Honduras, and Argentina, anemia was a mild public health problem, with prevalence ranging from 7.6% to 18.7%. In Guatemala, Brazil, the Dominican Republic, and Bolivia, anemia was a moderate public health problem, with prevalence ranging from 21.4% to 38.3%. Panama and Haiti had the highest reported prevalence rates (40.0% and 45.5%, respectively), and anemia was considered a severe public health problem in those countries. Anemia remains a public health problem in children under 6 years of age and women of childbearing age in most Latin America and Caribbean countries for which data are available.

The impact of anemia and body mass index (BMI on neuromotor development of preschool children

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Selen Ozakar Akca

Full Text Available Summary Objective: According to data from the World Health Organization (WHO, anemia is a prevalent health problem that leads to increased morbidity and mortality, especially in preschool children. Anemia is recognized as a major health problem due to its negative effects on the mental and physical development during childhood. The aim of our study was to determine the levels of anemia of children in a kindergarten affiliated to the Directorate of National Education using a non-invasive method, and to investigate the effects of anemia on the physical, mental and neuromotor development of children. Method: The levels of anemia was evaluated by using a non-invasive measurement device. Data collection was performed by means of a questionnaire to evaluate the children’s physical development and set Denver Developmental Screening Test II scores. Results: Our findings show that 21% of non-anemic and 15% of anemic children are in the suspected abnormal group according to their DDST II total score. Furthermore, it has been identified that mild anemia has a positive effect on neuromotor development, while overweight and obesity affect neuromotor development in a negative way. Conclusion: According to the results obtained from the study, mild anemia may have a positive effect on the children’s neuromotor development, while malnutrition could have a negative impact.

Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.

Science.gov (United States)

Tryon, Rebecca; Zierhut, Heather; MacMillan, Margaret L; Wagner, John E

2017-01-01

Fanconi anemia is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital anomalies, and markedly increased risk for malignancies. Mutations in the FANCF (FA-F) gene represent approximately 2% of affected patients. Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. Here, we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Microarray mRNA expression analysis of Fanconi anemia fibroblasts.

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Galetzka, D; Weis, E; Rittner, G; Schindler, D; Haaf, T

2008-01-01

Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different FANC genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (CTSB), glutaredoxin (GLRX), and polo-like kinase 2 (PLK2), that were misregulated in untreated primary fibroblasts from three unrelated FA-D2 patients, compared to six controls. Quantitative real-time RT PCR was used to validate these results and to study possible molecular links between FA-D2 and other FA subtypes. GLRX was misregulated to opposite directions in a variety of different FA subtypes. Increased CTSB and decreased PLK2 expression was found in all or almost all of the analyzed complementation groups and, therefore, may be related to the defective FA pathway. Transcriptional upregulation of the CTSB proteinase appears to be a secondary phenomenon due to proliferation differences between FA and normal fibroblast cultures. In contrast, PLK2 is known to play a pivotal role in processes that are linked to FA defects and may contribute in multiple ways to the FA phenotype: PLK2 is a target gene for TP53, is likely to function as a tumor suppressor gene in hematologic neoplasia, and Plk2(-/-) mice are small because of defective embryonal development. (c) 2008 S. Karger AG, Basel.

Prevalence of high blood pressure, heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia among the UAE adolescent population.

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Barakat-Haddad, Caroline

2013-01-01

This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

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Cazzola, Mario; Malcovati, Luca

2015-01-01

The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males have a hypochromic microcytic anemia, which is generally mild to moderate and is caused by defective heme synthesis and ineffective erythropoiesis. XLSA is a typical iron-loading anemia; although most patients are responsive to pyridoxine, treatment of iron overload is also important in the management of these patients. Autosomal recessive sideroblastic anemia attributable to mutations in SLC25A38, a member of the mitochondrial carrier family, is a severe disease: patients present in infancy with microcytic anemia, which soon becomes transfusion dependent. Conservative therapy includes regular red cell transfusion and iron chelation, whereas allogenic stem cell transplantation represents the only curative treatment. Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome characterized mainly by anemia attributable to ineffective erythropoiesis. The clinical course of RARS is generally indolent, but there is a tendency to worsening of anemia over time, so that most patients become transfusion dependent in the long run. More than 90% of these patients carry somatic mutations in SF3B1, a gene encoding a core component of the RNA splicing machinery. These mutations cause misrecognition of 3' splice sites in downstream genes, resulting in truncated gene products and/or decreased expression attributable to nonsense-mediated RNA decay; this explains the multifactorial pathogenesis of RARS. Variants of RARS include refractory cytopenia with multilineage dysplasia and ring sideroblasts, and RARS associated with marked thrombocytosis; these variants involve additional genetic lesions. Inhibitors of molecules of the transforming growth factor-β superfamily have been shown recently to target ineffective

Protrusio acetabuli in sickle-cell anemia

International Nuclear Information System (INIS)

Martinez, S.; Apple, J.S.; Baber, C.; Putman, C.E.; Rosse, W.F.

1984-01-01

Of 155 adults with sickle-cell anemia (SS, SC), radiographs of the pelvis or hip demonstrated protrusio acetabuli on at least one side in 14 (3 men and 11 women), as indicated by projection of the acetabular line medial to the ilio-ischial line. All 14 patients had bone changes attributable to sickle-cell anemia, including marrow hyperplasia and osteonecrosis; however, the severity of femoral or acetabular osteonecrosis did not appear directly related to the protrusion. The authors conclude that sickle-cell anemia can predispose to development of protrusio acetabuli

Fatores de risco para anemia em crianças de 6 a 12 meses no Brasil Risk factors for anemia among 6- to 12-month-old children in Brazil

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Mônica Glória Neumann Spinelli

2005-02-01

Full Text Available OBJETIVO: Estimar a prevalência de anemia e investigar os fatores de risco a ela associados em lactentes brasileiros que recebem atendimento na rede básica de saúde. MÉTODO: Estudo transversal com 2 715 crianças entre 6 e 12 meses de idade, residentes em 12 municípios das cinco regiões do Brasil. As mães ou responsáveis responderam a um questionário para coleta de informações sobre a criança e sua alimentação. Foram medidos o peso e a altura para determinação do estado nutricional. Também foi feita a dosagem da concentração de hemoglobina com fotômetro portátil HemoCue, considerando-se como anemia o nível OBJECTIVE: To estimate the prevalence of anemia and to determine associated risk factors among infants receiving routine health care in public clinics in Brazil. METHOD: This cross-sectional study included 2 715 infants between 6 and 12 months old in 12 cities, in all five of the geographic regions of Brazil. Information regarding the child and its feeding habits was obtained from the mother or other caregiver, using a questionnaire. Nutritional status was determined based on height and weight measurements. The hemoglobin concentration was measured using the HemoCue portable hemoglobinometer. Anemia was defined as hemoglobin < 11 g/dL. The infants’ eating habits were assessed based on what they were eating around the time of the questionnaire interviews. The association between anemia and the different variables was evaluated through bivariate analysis, followed by multiple logistic regression using a hierarchical selection model. RESULTS: The prevalence of anemia for the entire group was 65.4%. Multiple regression analysis identified the following risk factors for anemia: living in the Southeastern Region of Brazil (odds ratio (OR = 1.57, 95% confidence interval (95% CI = 1.25- 1.99, maternal age < 20 years (OR = 1.58, 95% CI = 1.21-2.07, birthweight < 2 500 g (OR = 2.09, 95% CI = 1.48-2.95, not being breast-fed (OR

Magnitude of Anemia at Discharge Increases 30-Day Hospital Readmissions.

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Koch, Colleen G; Li, Liang; Sun, Zhiyuan; Hixson, Eric D; Tang, Anne; Chagin, Kevin; Kattan, Michael; Phillips, Shannon C; Blackstone, Eugene H; Henderson, J Michael

2017-12-01

Anemia during hospitalization is associated with poor health outcomes. Does anemia at discharge place patients at risk for hospital readmission within 30 days of discharge? Our objectives were to examine the prevalence and magnitude of anemia at hospital discharge and determine whether anemia at discharge was associated with 30-day readmissions among a cohort of hospitalizations in a single health care system. From January 1, 2009, to August 31, 2011, there were 152,757 eligible hospitalizations within a single health care system. The endpoint was any hospitalization within 30 days of discharge. The University HealthSystem Consortium's clinical database was used for demographics and comorbidities; hemoglobin values are from the hospitals' electronic medical records, and readmission status was obtained from the University HealthSystem Consortium administrative data systems. Mild anemia was defined as hemoglobin of greater than 11 to less than 12 g/dl in women and greater than 11 to less than 13 g/dl in men; moderate, greater than 9 to less than or equal to 11 g/dl; and severe, less than or equal to 9 g/dl. Logistic regression was used to assess the association of anemia and 30-day readmissions adjusted for demographics, comorbidity, and hospitalization type. Among 152,757 hospitalizations, 72% of patients were discharged with anemia: 31,903 (21%), mild; 52,971 (35%), moderate; and 25,522 (17%), severe. Discharge anemia was associated with severity-dependent increased odds for 30-day hospital readmission compared with those without anemia: for mild anemia, 1.74 (1.65-1.82); moderate anemia, 2.76 (2.64-2.89); and severe anemia, 3.47 (3.30-3.65), P < 0.001. Anemia at discharge is associated with a severity-dependent increased risk for 30-day readmission. A strategy focusing on anemia treatment care paths during index hospitalization offers an opportunity to influence subsequent readmissions.

Anemia and nutritional status of schoolchildren living at Saudi high altitude area

International Nuclear Information System (INIS)

Abou-Zeid, Alaa H.; Abdel-Fattah, Moataz M.; Hifnawy, Tamer M.; Al-Hassan, Sir-Alkhatima A.; A-Shehri, Abdul Salam A.

2006-01-01

To estimate the prevalence and possible risk factors for anemia and abnormal anthropometric measurements among schoolchildren in Al-Hada Area, Taif, Kingdom of Saudi Arabia. We conducted the study between January and April, 2005 at Al-Hada area. A nested case-control study was conducted to estimate risk factors for anemia and abnormal anthropometric measurements. From 5 schools, 513 students were recruited. The mean hemoglobin concentration was 13.4+/-0.9 g/dL, while the prevalence of anemia was 11.6% and 15.5% based on hemoglobin and hematocrit values. At the same time, underweight affected 14.2% of the students, and stunting affected 12.2%. Moreover, 9.8% of the students were obese and 13.8% suffered from wasting. Most of the victims of anemia and erroneous anthropometric measurements were females, except for wasting which was more prevalent among males. Anemia is highly prevalent among these schoolchildren, which is seriously affecting the growth of 6-14 year-old children. Similarly, malnutrition seems to be a significant health problem among those children as estimated by anthropometric measurements, where all forms of abnormal body measurements affected at least 9.8% of the studied group. An in-depth investigation of the etiological factors of iron deficiency and malnutrition is urgently needed, and suitable nutrition-education and iron supplementation programs are recommended. (author)

Iron deficiency and anemia are prevalent in women with multiple gestations.

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Ru, Yuan; Pressman, Eva K; Cooper, Elizabeth M; Guillet, Ronnie; Katzman, Philip J; Kent, Tera R; Bacak, Stephen J; O'Brien, Kimberly O

2016-10-01

Little attention has been placed on the unique iron demands that may exist in women with multiple gestations. This merits attention because iron deficiency (ID) during pregnancy is associated with adverse pregnancy outcomes that are known to be more prevalent in multiple births. We characterized longitudinal changes in iron status across pregnancy in a cohort of healthy women with multiple gestations and identified determinants of maternal ID and anemia. A group of 83 women carrying twins, triplets, or quadruplets (aged 20-46 y) was recruited from 2011 to 2014. Blood samples obtained during pregnancy (∼24 wk; n = 73) and at delivery (∼35 wk; n = 61) were used to assess hemoglobin, serum ferritin (SF), soluble transferrin receptor (sTfR), hepcidin, serum iron, erythropoietin, serum folate, vitamin B-12, C-reactive protein, and interleukin-6. The prevalence of tissue ID (sTfR >8.5 mg/L) increased significantly from pregnancy to delivery (9.6% compared with 23%, P = 0.03). Women with depleted iron stores (SF anemia at delivery, and 25% (n = 5) developed iron deficiency anemia (IDA). Overall, 44.6% of women studied (n = 37/83) were anemic at delivery, and 18% of women (n = 11/61) had IDA. Erythropoietin during pregnancy was significantly negatively associated with hemoglobin at delivery. Women with erythropoietin >75th percentile during pregnancy exhibited a 3-fold greater risk of anemia, suggesting that erythropoietin is a sensitive predictor of anemia at delivery. Inflammation was present at delivery, which limited the utility of ferritin or hepcidin as iron-status indicators at delivery. ID and anemia are highly prevalent in women with multiple gestations. Additional screening and iron supplementation may be warranted in this high-risk population given the known associations between ID anemia and adverse maternal and neonatal outcomes. This trial was registered at clinicaltrials.gov as NCT01582802. © 2016 American Society for Nutrition.

[Nutritional evaluation, micronutrient deficiencies and anemia among female adolescents in an urban and a rural zone from Zulia state, Venezuela].

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Ortega, Pablo; Leal, Jorymar; Amaya, Daysi; Chávez, Carlos

2010-03-01

Female adolescents in reproductive age are a susceptible group to anemia and micronutrient deficiencies. The objective of this study was to know the nutritional, anthropometric and dietetic status, the prevalence of anemia, depletion of iron deposits (FeD) and Vitamin A deficiency (VAD) in female adolescents. Seventy-eight not pregnant female adolescents (15.9 +/- 1.1 years old), from an urban and a periurban zone of Maracaibo, and a rural zone near this city, without infectious and inflammatory processes, were analyzed. Anemia in adolescents was considered when Hb zone showed significant lower values of weight (p = 0.0024), height (p = 0.0027), body mass index BMI (p = 0.0487), fatty area (p = 0.0183), MCV (p = 0.0241), MCH (p = 0.0488), MHCC (p = 0.0228), and the highest prevalence of anemia (66.67%), anemia+FeD (33.33%), and anemia+FeD+RVAD (5.56%), with respect to adolescents from the urban zone. Although, anemic adolescents from the rural zone showed a non significant decrease of the iron percentage adjustment. Iron requirements are increased during adolescence, reaching a maximum at the peak of growth and remaining almost as high in girls after menarche, to replace menstrual losses. The low iron status among adolescents from the rural zone determine that this is a high risk group to anemia and FeD and they require prevention, control and suplementation strategies.

CLASSIFICATION AND DIAGNOSTICS OF ANEMIA IN CHILDREN

OpenAIRE

A. G. Rumyantsev

2011-01-01

Anemia in children is one of the most frequent somatic diseases. Criteria of anemia diagnosis are strictly regulated as decrease of hemoglobin/erythrocytes level accompanies majority of infectious, inflammatory, autoimmune, hereditary diseases and, in several cases, it is estimated as transitory disease in some periods of children’s growth and development. The article presents main classification and differential diagnostic schemes of anemia. Diagnostics makes accent on laboratory analysis; t...

An unusual cause of anemia and encephalopathy

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Sanjeev Kumar Sharma

2015-04-01

Full Text Available The authors present here an interesting case of recent onset anemia that was associated with an encephalopathy of the unusual cause.Although severe anemia can theoretically result in anemic hypoxia and can then lead to hypoxic encephalopathy, it is not a primary cause of encephalopathy. More frequently anemia can contribute together with other multiple causes of encephalopathy, such as infections, metabolic abnormalities, trauma, hepatic dysfunction, hypertension, toxins.

Anemia, tumor hypoxemia, and the cancer patient

International Nuclear Information System (INIS)

Varlotto, John; Stevenson, Mary Ann

2005-01-01

Purpose: To review the impact of anemia/tumor hypoxemia on the quality of life and survival in cancer patients, and to assess the problems associated with the correction of this difficulty. Methods: MEDLINE searches were performed to find relevant literature regarding anemia and/or tumor hypoxia in cancer patients. Articles were evaluated in order to assess the epidemiology, adverse patient effects, anemia correction guidelines, and mechanisms of hypoxia-induced cancer cell growth and/or therapeutic resistance. Past and current clinical studies of radiosensitization via tumor oxygenation/hypoxic cell sensitization were reviewed. All clinical studies using multi-variate analysis were analyzed to show whether or not anemia and/or tumor hypoxemia affected tumor control and patient survival. Articles dealing with the correction of anemia via transfusion and/or erythropoietin were reviewed in order to show the impact of the rectification on the quality of life and survival of cancer patients. Results: Approximately 40-64% of patients presenting for cancer therapy are anemic. The rate of anemia rises with the use of chemotherapy, radiotherapy, and hormonal therapy for prostate cancer. Anemia is associated with reductions both in quality of life and survival. Tumor hypoxemia has been hypothesized to lead to tumor growth and resistance to therapy because it leads to angiogenesis, genetic mutations, resistance to apoptosis, and a resistance to free radicals from chemotherapy and radiotherapy. Nineteen clinical studies of anemia and eight clinical studies of tumor hypoxemia were found that used multi-variate analysis to determine the effect of these conditions on the local control and/or survival of cancer patients. Despite differing definitions of anemia and hypoxemia, all studies have shown a correlation between low hemoglobin levels and/or higher amounts of tumor hypoxia with poorer prognosis. Radiosensitization through improvements in tumor oxygenation/hypoxic cell

Incidencia y mortalidad por anemia en pacientes gravemente enfermos Incidence and mortality due to anemia in acutely ill patients

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Maicelys Ramírez Zaldívar

2012-09-01

Full Text Available Introducción: la anemia es una de las enfermedades más conocidas y evaluadas en la práctica médica diaria. Objetivo: determinar la morbilidad y mortalidad de pacientes graves con anemia. Métodos: se realizó un estudio prospectivo de 118 pacientes ingresados en la Unidad de Terapia Intensiva del Hospital General Universitario "Vladimir Ilich Lenin" de Holguín, desde agosto hasta diciembre de 2010. Las variables discretas fueron comparadas mediante el test de £i al cuadrado y el de Fisher, y las continuas, por medio de las pruebas de T-Student y Mann-Whitney (la hemoglobina media, para á=0,05. Resultados: la anemia afectó 79,6 % de los integrantes de la serie y aumentó evolutivamente, con el consecuente empeoramiento de estos, de los cuales fallecieron 34,0 %, quienes tenían mayor edad (p=0,0004, necesitaron más transfusiones sanguíneas (p=0,005 y presentaron el trastorno de la hemoglobina más tardíamente (5,1 días. De los pacientes con anemia grave (hemoglobina:0,05. Conclusiones: la anemia en los pacientes graves se relacionó con una mayor mortalidad, estadía, necesidad de transfusiones de glóbulos rojos y causas médicas (neurológicas, en tanto, la edad avanzada y la gravedad de la anemia de aparición tardía se asociaron fundamentalmente a la mortalidad.Introduction: anemia is one of the well-known and evaluated diseases in the daily medical practice. Objective: to determine the morbidity and mortality of acutely ill patients with anemia. Methods: a prospective study of 118 patients admitted in the Intensive Therapy Unit of "Vladimir Ilich Lenin" General University Hospital in Holguín was carried out from August to December, 2010. Discrete variables were compared by means of the X² and Fisher tests, and the continuous variables, by means of the T-Student and Mann-Whitney tests (the mean hemoglobin, for á =0.05. Results: anemia affected 79.6% of the members of the series and it increased progressively, with the

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.

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Carré, G; Marelli, C; Anheim, M; Geny, C; Renaud, M; Rezvani, H R; Koenig, M; Guissart, C; Tranchant, C

2017-05-15

The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c.580-584+1delCCAAGG, exon 3), in the first case, and an already reported homozygous mutation, in the second case. These cases emphasize that XP-F is a rare cause of recessive cerebellar ataxia and can in some cases clinically mimic Huntington's disease due to chorea and executive impairment. The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications. Copyright © 2017 Elsevier B.V. All rights reserved.

Transient Ischemic Attack Caused by Iron Deficiency Anemia

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Ufuk Emre

2006-02-01

Full Text Available Transient Ischemic Attack Caused by Iron Deficiency Anemia Transient ischemic attacks are episodes of transient focal ischemia involving the brain or brainstem. They are commonly two to thirty minutes in duration and lasting less than 24 hours. Anemia of iron deficiency isn’t frequently cause for transient ischemic attack. It has been reported as a risk factor for childhood ischemic strokes. In the iron deficiency anemia, T‹A may develop as result of hypercoagulable state and increased viscosity that is caused by anemic hypoxia that is result of reduce hemoglobine level, seconder thrombosis and microcytose As iron deficiency anemia has been reported so rarely in adult patients with transient ischemic attacks as a cause, we aimed to discuss the clinical and outcome features of two cases with iron deficiency anemia and transient ischemic attacks in this study. Materials and methods: Routine neurologic examination, biochemical screen, serological tests, vasculitic markers, thyroid function tests, vitamin B 12 level, cranial imaging, vertebral carotid doppler USG examination was conducted in the two patients. Anemia of iron deficiency was found as the only risk factor for TIA and the two patients were treated with replacement of iron and antiagregan therapy. Neurological examination revealed no abnormality through the two years of follow-up. The iron deficiency anemia may be cause of many neurologic problems such a irritability, lethargy, headache, development retardation except from T‹A. In the iron deficiency anemia, early diagnosis and treatment is important

Thyroid storm and warm autoimmune hemolytic anemia.

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Moore, Joseph A; Gliga, Louise; Nagalla, Srikanth

2017-08-01

Graves' disease is often associated with other autoimmune disorders, including rare associations with autoimmune hemolytic anemia (AIHA). We describe a unique presentation of thyroid storm and warm AIHA diagnosed concurrently in a young female with hyperthyroidism. The patient presented with nausea, vomiting, diarrhea and altered mental status. Laboratory studies revealed hemoglobin 3.9g/dL, platelets 171×10 9 L -1 , haptoglobin storm and warm AIHA. She was started on glucocorticoids to treat both warm AIHA and thyroid storm, as well as antithyroid medications, propranolol and folic acid. Due to profound anemia and hemodynamic instability, the patient was transfused two units of uncrossmatched packed red blood cells slowly and tolerated this well. She was discharged on methimazole as well as a prolonged prednisone taper, and achieved complete resolution of the thyrotoxicosis and anemia at one month. Hyperthyroidism can affect all three blood cell lineages of the hematopoietic system. Anemia can be seen in 10-20% of patients with thyrotoxicosis. Several autoimmune processes can lead to anemia in Graves' disease, including pernicious anemia, celiac disease, and warm AIHA. This case illustrates a rarely described presentation of a patient with Graves' disease presenting with concurrent thyroid storm and warm AIHA. Copyright © 2017 Elsevier Ltd. All rights reserved.

Pyrexia due to megaloblastic anemia: An Unusual Case

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Singh PS, Vijay Verma, Vidyasagar, Granth Kumar

2014-07-01

Full Text Available Postmenopausal vegetarian female presented with short febrile illness associated with generalized weakness Clinical and investigative findings evidenced megaloblastic anemia Since none of investigations could pinpoint the cause for pyrexia and patient did not respond to empirical antibiotic and conservative antimalarial therapy, megaloblastic anemia itself was suspected to be cause for febrile episode Patient was treated with parenteral B12 and oral folic acid for megaloblastic anemia and she responded to it and became afebrile within 72 hours. Subsequently megaloblastic anemia was correlated to be cause of febrile illness.

Genetics Home Reference: X-linked sideroblastic anemia and ataxia

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... linked sideroblastic anemia and ataxia X-linked sideroblastic anemia and ataxia Printable PDF Open All Close All ... the expand/collapse boxes. Description X-linked sideroblastic anemia and ataxia is a rare condition characterized by ...

[Prevalence of anemia in reproductive-age Mexican women].

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Shamah-Levy, Teresa; Villalpando, Salvador; Mundo-Rosas, Verónica; De la Cruz-Góngora, Vanessa; Mejía-Rodríguez, Fabiola; Méndez Gómez-Humarán, Ignacio

2013-01-01

To update the prevalence of anemia and its trend in Mexican women of childbearing age over the past 13 years using information from the National Health and Nutrition Survey 2012 and 2006 (ENSANUT 2012 and ENSANUT 2006, respectively) and from the National Nutrition Survey 1999 (ENN 99). Data came from three national probabilistic surveys, representative at regional and rural / urban level. Hemoglobin (Hb) in women was measured using a HemoCue photometer and classified as anemia according to the WHO criteria. Frequencies and CI95% were estimated for each survey (ENSANUT 2012, ENSANUT 2006 and ENN 99) as well as percentage changes in anemia prevalence among pregnant and non-pregnant women in this survey sequence. The national prevalence of anemia in 2012 in non-pregnant women was 11.6% and in pregnant women was 17.9%. Between 1999 and 2012, a 10 percentage point (pp) decreasing in anemia prevalence was observed in the first ones and a 13.5 pp in the second ones. Although it has declined in the past 13 years, anemia in women of childbearing age remains as a serious public health problem. It is considered necessary to design strategies to prevent iron deficiency and for the early detection of anemia in women.

Prevalence, severity, and related factors of anemia in HIV/AIDS patients

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Mohsen Meidani

2012-01-01

Full Text Available Objective: The prevalence of anemia in HIV infected patients has not been well characterized in Iran. This study aimed to describe the prevalence of anemia and related factors in HIV positive patients. Materials and Methods: In a cross-sectional study, anemia prevalence and risk factors of 212 HIV positive patients were assessed, at the behavioral disease consulting center in Isfahan. The relationship between anemia, demographic variables, and clinical histories were analyzed. Mild to moderate anemia was defined as hemoglobin 8-13 g/dL for men and 8-12 g/dL for women. Severe anemia was defined as hemoglobin, 8 g/dL. Results: A total of 212 HIV positive patients with a mean±SD age of 36.1 ± 9.1 years were assessed. We found that hemoglobin levels were between 4.7 and 16.5 gr/dL. In this study, the overall prevalence of anemia was 71%, with the majority of patients having mild to moderate anemia. Mild to moderate anemia and severe anemia occurred in 67% and 4% of patients, respectively. The mean absolute CD4 count was 348 ± 267.8 cells/cubic mm. Sixty one of 212 patients were at late stage of HIV infection (males=51 and female=10. Of the 212 HIV positive patients enrolled, 17 (8% had a positive history of tuberculosis. We found a strong association between anemia and death. Conclusion: Normocytic anemia with decreased reticulocyte count was the most common type of anemia in overall. Prevalence of anemia in this study is relatively higher than other similar studies. Such a high prevalence of anemia needs close monitoring of patients on a zidovudine-based regimen. Better screening for anemia and infectious diseases, and modified harm reduction strategy (HRS for injection drug users are primary needs in HIV seropositive patients.

Magnitude and correlates of moderate to severe anemia among ...

African Journals Online (AJOL)

Introduction: Moderate to severe anemia is an important clinical problem in HIV patients on Highly Active Antiretroviral Therapy. The rate of progression and mortality in this sub group of patients is high compared to non anemic patients. In sub Saharan Africa with scale up of Anti retroviral therapy, the magnitude of this ...

Iron Deficiency and Anemia Predict Mortality in Patients with Tuberculosis123

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Isanaka, Sheila; Mugusi, Ferdinand; Urassa, Willy; Willett, Walter C.; Bosch, Ronald J.; Villamor, Eduardo; Spiegelman, Donna; Duggan, Christopher; Fawzi, Wafaie W.

2012-01-01

Many studies have documented a high prevalence of anemia among tuberculosis (TB) patients and anemia at TB diagnosis has been associated with an increased risk of death. However, little is known about the factors contributing to the development of TB-associated anemia and their importance in TB disease progression. Data from a randomized clinical trial of micronutrient supplementation in patients with pulmonary TB in Tanzania were analyzed. Repeated measures of anemia with iron deficiency, anemia without iron deficiency, and iron deficiency without anemia were assessed as risk factors for treatment failure, TB recurrence, and mortality. The prevalence of anemia (hemoglobin iron deficiency (mean corpuscular volume , 80 fL). We found no evidence of an association between anemia (with or without iron deficiency) or iron deficiency without anemia at baseline and the risk of treatment failure at 1 mo after initiation. Anemia without iron deficiency was associated with an independent, 4-fold increased risk of TB recurrence [adjusted RR = 4.10 (95% CI = 1.88, 8.91); P Iron deficiency and anemia (with and without iron deficiency) were associated with a 2- to nearly 3-fold independent increase in the risk of death [adjusted RR for iron deficiency without anemia = 2.89 (95% CI = 1.53, 5.47); P = 0.001; anemia without iron deficiency = 2.72 (95% CI = 1.50, 4.93); P = 0.001; iron deficiency anemia = 2.13 (95% CI = 1.10, 4.11); P = 0.02]. Efforts to identify and address the conditions contributing to TB-associated anemia, including iron deficiency, could play an important role in reducing morbidity and mortality in areas heavily affected by TB. PMID:22190024

Biodisponibilidade do ferro como fator de proteção contra anemia entre crianças de 12 a 16 meses Iron bioavailability as a protective factor against anemia among children aged 12 to 16 months

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Márcia Regina Vitolo

2007-02-01

iron intake according to recommendations. METHODS: The study included 369 children from a cohort of inhabitants of São Leopoldo, state of Rio Grande do Sul, Brazil, who were randomized at birth into an intervention group and into a control group. The intervention group had nutritional guidance in the first year of life, with monthly follow-up home visits, whereas the control group was visited at 6 and 12 months, without nutritional intervention. At the end of the first year of life, a 24-hour recall was used. Anemia was diagnosed based on a hemoglobin level less than 11 g/dL. The children's diets were classified according to iron bioavailability. RESULTS: The prevalence of anemia amounted to 63.7% in this study. The proportion of children with adequate iron intake relative to the recommendations was statistically higher in the nonanemic group (26.8% than in the anemic one (17.7%. Nonanemic children had a greater intake of iron (p = 0.019, vitamin C (p = 0.001, energy density at dinner (p = 0.006, iron density per 1,000 calories (p = 0.045; and 16.3% of them had a diet with high iron bioavailability (p = 0.002. CONCLUSIONS: A diet with high iron bioavailability protects children from anemia and can be used as an intervention measure by basic health services and by the municipal departments of children's education.

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

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Yagasaki, Hiroshi; Hamanoue, Satoshi; Oda, Tsukasa; Nakahata, Tatsutoshi; Asano, Shigetaka; Yamashita, Takayuki

2004-12-01

Fanconi anemia (FA) is a rare autosomal recessive disorder of hematopoiesis, with at least 11 complementation groups. FANCA, a gene for group A, accounts for the majority of FA patients. Previous studies of FANCA mutations revealed high allelic heterogeneity, frequent occurrence of large deletions, and interpopulation differences. However, systematic mutational analysis, including gene dosage assay to detect large deletions, has not been documented for Asian populations. A newly developed TaqMan quantitative PCR-based gene dosage assay, combined with sequencing of exons and cDNA fragments, allowed for detection of 48 mutant alleles of FANCA in 27 (77%) of 35 unrelated Japanese FA families with no detectable mutations in FANCC or FANCG. We identified 29 different mutations (21 nucleotide substitutions or small deletions/insertions and eight large deletions), at least 20 of which were novel. The FANCA mutational spectrum of the Japanese was different from that of other ethnic groups so far studied. This is the largest scale of mutation analysis of FANCA in the Japanese population. Characterization of these mutations provided new information regarding the mutagenesis mechanisms and structure-function relationship of FANCA. Specifically, our data suggest that diverse mechanisms including nonhomologous recombination as well as Alu-mediated homologous recombination are involved in the generation of large deletions in FANCA. Copyright 2004 Wiley-Liss, Inc.

Profilaxia da anemia ancilostomótica: sindrome de carencia Prophylaxis of Hookworm Anemia-carencial syndrome

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W. O. Cruz

1945-04-01

Full Text Available É apresentada uma revisão das recentes aquisições na anemia ancilostomótica, assinalando a importância de alimentação qualitativamente deficiente junto á infestação helmíntica na gênese desta doença. Acentuou-se que a anemia ancilostomótica é uma doença de carência. Profilaxia clássica da Ancilostomose resume-se em evitar a infestação do homem pelos ancilostomídeos. Critica-se a aplicabilidade destas medidas e eficiência das mesmas no que diz respeito á incidência da anemia. O presente trabalho mostra aquisições preliminares sôbre fundamentos de uma profilaxia de carência (tipo profilaxia do bócio endêmico da anemia ancilostomótica, baseada na administração de alimentos contaminados por um sal de ferro. As misturas sulfato ferroso-farinha de mandióca e citrato férrico amoniacal-caldo de feijão, mostraram-se eficientes em prevenir a queda das cifras hemáticas durante largos períodos de tempo em indivíduos maciçamente infestados (6-8 meses. Não foi verificada a dose diária mínima eficiente dêstes sais, obtendo-se resultados satisfatorios mesmo com 0.1 g diária de sulfato ferroso (correspondendo a 0.037 g de ferro metálico. Numerosos alimentos e sais de ferro foram experimentados com resultados infrutíferos por diferentes razões. A influência dos helmintos, pela hemorragias intestinais que acarretam poude ser mais uma vez estudada, nos casos de sais de ferro administrados em doses ineficientes ou em períodos de prova sem medicação marcial. É proposta nova classificação de intensidade de infestação, levando em consideração o conhecido fato de ser a atividade dos helmintos, exclusivamente expoliadora. Em conclusão, nos parece exequível a profilaxia da anemia ancilostomótica mediante ingestão de alimentos contaminados por quantidades eficientes de sais de ferro. Êste método profilático extremamente econômico será na prática, provàvelmente, muito superior aos métodos de profilaxia

Salmonella osteomyelitis by sickle cell anemia

International Nuclear Information System (INIS)

Rausch, H.; Tran, V.T.; Boeckmann, U.; Duesseldorf Univ.

1985-01-01

Case report of a 28 year old black sickle cell anemia patient with salmonella osteomyelitis of the radius. Aside from sickle cell anemia patients this skeletal complication of enteric salmonellosis is an extreme rarity. Description of the typical roentgenological features includes intracortical fissures and sequestration. (orig.) [de

Fanconi anemia (cross)linked to DNA repair.

Science.gov (United States)

Niedernhofer, Laura J; Lalai, Astrid S; Hoeijmakers, Jan H J

2005-12-29

Fanconi anemia is characterized by hypersensitivity to DNA interstrand crosslinks (ICLs) and susceptibility to tumor formation. Despite the identification of numerous Fanconi anemia (FANC) genes, the mechanism by which proteins encoded by these genes protect a cell from DNA interstrand crosslinks remains unclear. The recent discovery of two DNA helicases that, when defective, cause Fanconi anemia tips the balance in favor of the direct involvement of the FANC proteins in DNA repair and the bypass of DNA lesions.

Factors Influencing the Use of Biomedical Health Care by Rural Bolivian Anemic Women: Structural Barriers, Reproductive Status, Gender Roles, and Concepts of Anemia.

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Rebecca M Bedwell

Full Text Available Non-pregnant women from a rural town and its surrounding region were tested for anemia. During phase 1 (n = 181, anemic women received a written recommendation for low-cost purchase of iron pills at the nearest health center. They were subsequently interviewed on their actions and experiences.Estimated anemia prevalence among these non-pregnant women was 50% higher than the national average. Despite holding conceptualizations of anemia generally aligned with biomedical concepts, only 40% of anemic women attempted to obtain iron supplements from the health center. Town residents were about twice as likely to attempt to purchase pills as outside-town residents. Town women who were concurrently breastfeeding and menstruating, considered anemia most serious for women, and considered family health the shared responsibility of spouses were most likely to decide to purchase iron pills. Age, education, or native language did not negatively influence this health care behavior.Securing iron supplements involves individual trade-offs in the allocation of time, cost and effort. Nonetheless, suitably tailored programs can potentially harness local perceptions in the service of reducing anemia. Because of their comparatively high motivation to obtain iron supplements, targeting concurrently breastfeeding and menstruating women could have a positive cascade effect such that these women continue attending to their iron needs once they stop breastfeeding and if they become pregnant again. Because a sense of shared responsibility for family health appears to encourage women to attend to their own health, programs for women could involve their spouses. Complementing centralized availability, biomedical and traditional healers could distribute iron supplements on rotating visits to outlying areas and/or at highly attended weekly markets.

Factors Influencing the Use of Biomedical Health Care by Rural Bolivian Anemic Women: Structural Barriers, Reproductive Status, Gender Roles, and Concepts of Anemia.

Science.gov (United States)

Bedwell, Rebecca M; Spielvogel, Hilde; Bellido, Diva; Vitzthum, Virginia J

2017-01-01

Non-pregnant women from a rural town and its surrounding region were tested for anemia. During phase 1 (n = 181), anemic women received a written recommendation for low-cost purchase of iron pills at the nearest health center. They were subsequently interviewed on their actions and experiences. Estimated anemia prevalence among these non-pregnant women was 50% higher than the national average. Despite holding conceptualizations of anemia generally aligned with biomedical concepts, only 40% of anemic women attempted to obtain iron supplements from the health center. Town residents were about twice as likely to attempt to purchase pills as outside-town residents. Town women who were concurrently breastfeeding and menstruating, considered anemia most serious for women, and considered family health the shared responsibility of spouses were most likely to decide to purchase iron pills. Age, education, or native language did not negatively influence this health care behavior. Securing iron supplements involves individual trade-offs in the allocation of time, cost and effort. Nonetheless, suitably tailored programs can potentially harness local perceptions in the service of reducing anemia. Because of their comparatively high motivation to obtain iron supplements, targeting concurrently breastfeeding and menstruating women could have a positive cascade effect such that these women continue attending to their iron needs once they stop breastfeeding and if they become pregnant again. Because a sense of shared responsibility for family health appears to encourage women to attend to their own health, programs for women could involve their spouses. Complementing centralized availability, biomedical and traditional healers could distribute iron supplements on rotating visits to outlying areas and/or at highly attended weekly markets.

Iron deficiency, anemia, and mortality in renal transplant recipients.

Science.gov (United States)

Eisenga, Michele F; Minović, Isidor; Berger, Stefan P; Kootstra-Ros, Jenny E; van den Berg, Else; Riphagen, Ineke J; Navis, Gerjan; van der Meer, Peter; Bakker, Stephan J L; Gaillard, Carlo A J M

2016-11-01

Anemia, iron deficiency anemia (IDA), and iron deficiency (ID) are highly prevalent in renal transplant recipients (RTR). Anemia is associated with poor outcome, but the role of ID is unknown. Therefore, we aimed to investigate the association of ID, irrespective of anemia, with all-cause mortality in RTR. Cox regression analyses were used to investigate prospective associations. In 700 RTR, prevalences of anemia, IDA, and ID were 34%, 13%, and 30%, respectively. During follow-up for 3.1 (2.7-3.9) years, 81 (12%) RTR died. In univariable analysis, anemia [HR, 1.72 (95%CI: 1.11-2.66), P = 0.02], IDA [2.44 (1.48-4.01), P anemia with mortality became weaker after adjustment for ID [1.52 (0.97-2.39), P = 0.07] and disappeared after adjustment for proteinuria and eGFR [1.09 (0.67-1.78), P = 0.73]. The association of IDA with mortality attenuated after adjustment for potential confounders. In contrast, the association of ID with mortality remained independent of potential confounders, including anemia [1.77 (1.13-2.78), P = 0.01]. In conclusion, ID is highly prevalent among RTR and is associated with an increased risk of mortality, independent of anemia. As ID is a modifiable factor, correction of ID could be a target to improve survival. © 2016 The Authors. Transplant International published by John Wiley & Sons Ltd on behalf of Steunstichting ESOT.

Atypical hemolytic uremic syndrome: Laboratory characteristics, complement-amplifying conditions, renal biopsy, and genetic mutations

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Mohammad A Hossain

2018-01-01

Full Text Available Atypical hemolytic uremic syndrome (aHUS is characterized by microangiopathic hemolytic anemia, consumptive thrombocytopenia, and widespread damage to multiple organs including the kidney. The syndrome has a high mortality necessitating the need for an early diagnosis to limit target organ damage. Because thrombotic microangiopathies present with similar clinical picture, accurate diagnosis of aHUS continues to pose a diagnostic challenge. This article focuses on the role of four distinct aspects of aHUS that assist clinicians in making an accurate diagnosis of aHUS. First, because of the lack of a single specific laboratory test for aHUS, other forms of thrombotic microangiopathies such as thrombotic thrombocytopenic purpura and Shiga toxin-associated HUS must be excluded to successfully establish the diagnosis of aHUS. Second, application of the knowledge of complement-amplifying conditions is critically important in making an accurate diagnosis. Third, when available, a renal biopsy can reveal changes consistent with thrombotic microangiopathy. Fourth, genetic mutations are increasingly clarifying the underlying complement dysfunction and gaining importance in the diagnosis and management of patients with aHUS. This review concentrates on the four aspects of aHUS and calls for heightened awareness in making an accurate diagnosis of aHUS.

[Spatial analysis of gestational anemia in Peru, 2015].

Science.gov (United States)

Hernández-Vásquez, Akram; Azañedo, Diego; Antiporta, Daniel A; Cortés, Sandra

2017-01-01

To establish regional prevalences of anemia in pregnant women receiving care at public clinics in Peru in 2015 and identify high-prevalence district conglomerates. An ecological study was carried out on data from pregnant women with anemia registered on the Nutritional Status Information System (SIEN) who received care in 7703 public clinics in 2015. Regional and district prevalences of gestational anemia were calculated. District conglomerates with a high prevalence of gestational anemia were identified using the Moran Index. Information was gathered from 311,521 pregnant women distributed in 1638 districts in Peru. The national prevalence of anemia was 24.2% (95% confidence interval [95% CI]: 24.0-24.3%), the rural prevalence was 30.5%, and the urban prevalence was 22.0%. The regions of Huancavelica (45.5%; 95% CI: 44.2-46.7%), Puno (42.8%; 95% CI: 41.9-43.7%), Pasco (38.5%; 95% CI: 36.9-40.0%), Cusco (36.0%; 95% CI: 35.3-36.8%), and Apurímac (32.0%; 95% CI: 30.8-33.1%) had the highest prevalences of anemia. The local Moran Index identified 202 high-priority districts (hot spots) (12.3% of total; 44 urban and 158 rural) located in Ancash, Apurímac, Arequipa, Ayacucho, Cajamarca, Cusco, Huancavelica, Huánuco, Junín, La Libertad, Lima, Pasco, and Puno containing high-prevalence district conglomerates. Gestational anemia in Peru has its highest prevalence rates in rural and southern mountainous areas. The district conglomerates with high prevalence rates of gestational anemia coincide with the areas of high regional prevalence.

Severe anemia in 3 toddlers with gastric lactobezoar.

Science.gov (United States)

Klein-Franke, A; Kropshofer, G; Gassner, I; Meister, B; Salvador, C; Scholl-Bürgi, S; Mueller, T; Heinz-Erian, P

2013-05-01

Anemia in toddlers may result from many disorders including excessive feeding with cow's milk. Another sequel of age-inadequate cow's milk nutrition may be gastric lactobezoar (GLB), a dense lump of coagulated milk and mucus in the stomach. 3 toddlers presented with a history of excessive intake of full cream cow's milk, abdominal distension, vomiting, dehydration, fatigue, marked pallor and tachycardia. Diagnostic imaging revea-led large GLBs as the likely origin of the abdominal symptoms. Laboratory evaluation showed severe anemia with depleted iron stores and signs of protein catabolism. Non-cow's milk-induced causes of anemia including defects of erythropoiesis, hemoglobin structure, RBC-enzymes and blood coagulation, hemolysis, immune disorders, infection, inflammation, extraintestinal hemorrhage, nephropathy were - according to the available data - unlikely to cause the anemia in our patients. Thus their anemia is thought to be due to age-inadequate cow's milk nutrition leading to 1) low intake, decreased absorption/bioavailability and increased intestinal loss of iron, and 2) GLB which induced blood loss following mechanical irritation of the gastric mucosa and vomiting causing high gastric pH and decrease in duodenal iron absorption. The anemia in our patients is due to both exaggerated feeding with cow's milk and adverse effects of GLBs. This hypothesis is supported by the finding that, after erythrocyte transfusion, iron substitution, age-adapted nutrition and GLB-dissolution, the anemia did not recur. We propose to include GLB in the differential diagnosis of anemia in cow's milk fed small children. © Georg Thieme Verlag KG Stuttgart · New York.

An Etiologic Profile of Anemia in 405 Geriatric Patients

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Tabea Geisel

2014-01-01

Full Text Available Background. Anemia is a common condition in the elderly and a significant risk factor for increased morbidity and mortality, reducing not only functional capacity and mobility but also quality of life. Currently, few data are available regarding anemia in hospitalized geriatric patients. Our retrospective study investigated epidemiology and causes of anemia in 405 hospitalized geriatric patients. Methods. Data analysis was performed using laboratory parameters determined during routine hospital admission procedures (hemoglobin, ferritin, transferrin saturation, C-reactive protein, vitamin B12, folic acid, and creatinine in addition to medical history and demographics. Results. Anemia affected approximately two-thirds of subjects. Of 386 patients with recorded hemoglobin values, 66.3% were anemic according to WHO criteria, mostly (85.1% in a mild form. Anemia was primarily due to iron deficiency (65%, frequently due to underlying chronic infection (62.1%, or of mixed etiology involving a combination of chronic disease and iron deficiency, with absolute iron deficiency playing a comparatively minor role. Conclusion. Greater awareness of anemia in the elderly is warranted due to its high prevalence and negative effect on outcomes, hospitalization duration, and mortality. Geriatric patients should be routinely screened for anemia and etiological causes of anemia individually assessed to allow timely initiation of appropriate therapy.

Defining the complement biomarker profile of c3 glomerulopathy

DEFF Research Database (Denmark)

Zhang, Yuzhou; Nester, Carla M; Martin, Bertha

2014-01-01

BACKGROUND AND OBJECTIVES: C3 glomerulopathy (C3G) applies to a group of renal diseases defined by a specific renal biopsy finding: a dominant pattern of C3 fragment deposition on immunofluorescence. The primary pathogenic mechanism involves abnormal control of the alternative complement pathway......, although a full description of the disease spectrum remains to be determined. This study sought to validate and define the association of complement dysregulation with C3G and to determine whether specific complement pathway abnormalities could inform disease definition. DESIGN, SETTING, PARTICIPANTS......, & MEASUREMENTS: This study included 34 patients with C3G (17 with C3 glomerulonephritis [C3GN] and 17 with dense deposit disease [DDD]) diagnosed between 2008 and 2013 selected from the C3G Registry. Control samples (n=100) were recruited from regional blood drives. Nineteen complement biomarkers were assayed...

Valores del hematocrito y prevalencia de anemia en escolares jujeños

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I. F. Bejeran

2003-08-01

. Anemia is an endemic disease with insufficiently known prevalence in Argentina, in different age and risk groups and particularly in schoolchildren. The aim of this work was to study the variation of schoolchildren Ht in San Salvador of Jujuy city located at 1.200 m.a.s.l. in order to evaluate the prevalence of anemia and to relate these variations to the socio-economic characteristics of the population. The Ht data proceed from 17.580 schoolchildren of private and public schools. They were grouped by age, sex and socio-economic level. Were considered as anemic the children whose Ht was found: a under a minimal value accepted for the 1200 m level; b below 2 standard deviations. For the statistical analysis, ANOVA, c2 and correlation coefficient were employed. Independently of age, sex and socio-economic level, the average Ht values agree with those adjusted for the altitude. We observed: a statistically significant intersex differences, males showing higher values than females; b a trend to the Ht augmentation in relationship to the increase of the socio-economic level. Independently of the criterion used the prevalence of anemia was low in both sexes, age groups and in all socio-economic levels. Ht values: a are representative of a schoolchildren population located at a moderate altitude; b in spite of a trend to decrease in the low socio-economic level, this did not surpass, in most cases, the critical anemia level; c are not indicative of malnutrición in the schoolchildren examined.

Interleukin-6 and Interleukin-8 Levels Correlate With the Severity of Aplastic Anemia in Children.

Science.gov (United States)

Gupta, Vineeta; Kumar, Sushil; Sonowal, Rimjhim; Singh, Surya K

2017-04-01

The aim of this study was to evaluate the levels of interleukin (IL)-6 and IL-8 in patients with aplastic anemia and its correlation with severity of the disease. IL-6 and IL-8 levels were measured in 40 patients with aplastic anemia in the age group of 4 to 14 years. A total of 40 healthy children served as controls. Quantitative estimation of IL-6 and IL-8 was performed using a solid-phase sandwich ELISA kit. Results were presented as IL-6 and IL-8 concentrations in pg/mL. Patients received immunosuppressive therapy per the British Committee for Standards in Haematology Guidelines 2009. Mean age of the patients was 9.78±2.74 years. IL-6 level of patients was elevated compared with controls (193.48±352.3 vs. 4.58±3.39; Paplastic anemia (724.33±519.42), followed by severe aplastic anemia (80.51±66.28 pg/mL), and non-severe aplastic anemia (6.01±1.89). Differences were statistically significant. A similar trend was also observed for IL-8 levels, where the levels were 41.02±24.23, 11.34±8.0, and 1.67±0.71 for very severe aplastic anemia, severe aplastic anemia, and non-severe aplastic anemia, respectively. The differences were again statistically significant. IL levels were also correlated with the treatment outcome. Responders had lower levels compared with nonresponders, but the difference was not statistically significant (186.36±322.45 vs. 198.74±368.10). Levels of ILs decreased in responders, but were not comparable with that of controls 6 months after therapy. High levels of IL-6 and IL-8 were observed in children with aplastic anemia. Increased levels showed correlation with disease severity and therefore appear to play an important role in aplastic anemia. However, levels had no significant correlation with the treatment outcome.

Radioisotopic studies on equine infectious anemia, 1

International Nuclear Information System (INIS)

Maliska, C.

1973-01-01

The half-life of 51 Cr-tagged erythrocytes of 16 thoroughbred horses, 11 healthy and 5 naturally injected by equine infections anemia, was determined in Rio de Janeiro, BRAZIL. The half-life of 51 Cr-tagged erythrocytes of healthy horses was 15,5 (S.D. +- -+ 2,08) days, and of anemic horses 8,98 (S.D. +- -+ 1,20) days. The difference between the mean values of the two groups was statistically significant (P [pt

Experimental anemia induced by excess iron excretion.

OpenAIRE

Kimura,Ikuro; Sugiyama,Motoharu; Ishibashi,Ken; Miyata,Akira; Matsuzaka,Hiroto

1980-01-01

The effect of desferrioxamine on several hematological parameters was studied in growing rats. Animals given desferrioxamine intramuscularly (150 mg/kg daily) had increased urinary iron after one week, and decreased hemoglobin after 2 weeks. The difference in hemoglobin concentration between the treated and control groups was significant after 4 weeks of treatment with desferrioxamine, but the difference in the numbers of erythrocytes was not significant. The anemia was of hypochromic type. D...

[Anemia: guidelines comparison].

Science.gov (United States)

Del Vecchio, Lucia

2009-01-01

The development of recombinant human erythropoietin and its introduction into the market in the late 1980s has significantly improved the quality of life of patients with chronic kidney disease (CKD) and reduced the need for blood transfusions. Starting from a cautious target, a progressive increase in the recommended hemoglobin levels has been observed over the years, in parallel with an increase in the obtained levels. This trend has gone together with the publication of findings of observational studies showing a relationship between the increase in hemoglobin levels and a reduction in the mortality risk, with the conduction of clinical trials testing the effects of complete anemia correction, and with the compilation of guidelines on anemia control in CKD patients by scientific societies and organizations. In the last two years, evidence of a possible increase in the mortality risk in those patients who were randomized to high hemoglobin levels has resulted in a decrease in the upper limit of the recommended Hb target to be obtained with erythropoietin stimulating agents (ESA), and consequently in a narrowing of the target range. Comparison of guidelines on anemia control in CKD patients is an interesting starting point to discuss single recommendations, strengthen their importance, or suggest new topics of research to fill up important gaps in knowledge.

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

Science.gov (United States)

Doulatov, Sergei; Vo, Linda T.; Macari, Elizabeth R.; Wahlster, Lara; Kinney, Melissa A.; Taylor, Alison M.; Barragan, Jessica; Gupta, Manav; McGrath, Katherine; Lee, Hsiang-Ying; Humphries, Jessica M.; DeVine, Alex; Narla, Anupama; Alter, Blanche P.; Beggs, Alan H.; Agarwal, Suneet; Ebert, Benjamin L.; Gazda, Hanna T.; Lodish, Harvey F.; Sieff, Colin A.; Schlaeger, Thorsten M.; Zon, Leonard I.; Daley, George Q.

2017-01-01

Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of erythroid progenitor differentiation, severely curtailing red blood cell production. Because many DBA patients fail to respond to corticosteroid therapy, there is considerable need for therapeutics for this disorder. Identifying therapeutics for DBA requires circumventing the paucity of primary patient blood stem and progenitor cells. To this end, we adopted a reprogramming strategy to generate expandable hematopoietic progenitor cells from induced pluripotent stem cells (iPSCs) from DBA patients. Reprogrammed DBA progenitors recapitulate defects in erythroid differentiation, which were rescued by gene complementation. Unbiased chemical screens identified SMER28, a small-molecule inducer of autophagy, which enhanced erythropoiesis in a range of in vitro and in vivo models of DBA. SMER28 acted through autophagy factor ATG5 to stimulate erythropoiesis and up-regulate expression of globin genes. These findings present an unbiased drug screen for hematological disease using iPSCs and identify autophagy as a therapeutic pathway in DBA. PMID:28179501

Efeitos da anemia materna na cardiotocografia computadorizada e perfil biofísico fetal Effects of maternal anemia on computerized cardiotocography and fetal biophysical profile

Directory of Open Access Journals (Sweden)

Roseli Mieko Yamamoto Nomura

2009-12-01

30 minutes of exam. The FBP was done in all the patients. Student's, χ2 and Fisher's exact tests were used, with 0.05 significance level. RESULTS: The average of maternal Hb in the group with anemia (n=18 was 9.4 g/dL (DP=1.4 g/dL, and in the control group, 12.4g/dL (DP=1.3 g/dL. There has been no significant mean differences between groups concerning the cardiotocography parameters, respectively: basal FHR(131.3 versus 133.7 bpm, p=0.5, FHR accelerations > 10b pm (7.9 versus 8.2, p=0.866, FHR accelerations > 15 bpm (5.2 versus. 5.4, p=0.9, episodes of high variation of the FHR (17.1 versus 15.5 min, p=0,5, episodes of variation of the FHR (4.4 versus 3.6 min, p=06, and short term variation (10.5 versus 10.9 ms, p=0.5. In both groups, all patients presented normal FBP. CONCLUSIONS: this study suggests that light or moderate maternal anemia, without other maternal or fetal comorbidity, is not associated with abnormalities in the parameters of fetal biophysical profile and of the FHR analyzed by computerized cardiotocography.

Oral human papillomavirus is common in individuals with Fanconi anemia.

Science.gov (United States)

Sauter, Sharon L; Wells, Susanne I; Zhang, Xue; Hoskins, Elizabeth E; Davies, Stella M; Myers, Kasiani C; Mueller, Robin; Panicker, Gitika; Unger, Elizabeth R; Sivaprasad, Umasundari; Brown, Darron R; Mehta, Parinda A; Butsch Kovacic, Melinda

2015-05-01

Fanconi anemia is a rare genetic disorder resulting in a loss of function of the Fanconi anemia-related DNA repair pathway. Individuals with Fanconi anemia are predisposed to some cancers, including oropharyngeal and gynecologic cancers, with known associations with human papillomavirus (HPV) in the general population. As individuals with Fanconi anemia respond poorly to chemotherapy and radiation, prevention of cancer is critical. To determine whether individuals with Fanconi anemia are particularly susceptible to oral HPV infection, we analyzed survey-based risk factor data and tested DNA isolated from oral rinses from 126 individuals with Fanconi anemia and 162 unaffected first-degree family members for 37 HPV types. Fourteen individuals (11.1%) with Fanconi anemia tested positive, significantly more (P = 0.003) than family members (2.5%). While HPV prevalence was even higher for sexually active individuals with Fanconi anemia (17.7% vs. 2.4% in family; P = 0.003), HPV positivity also tended to be higher in the sexually inactive (8.7% in Fanconi anemia vs. 2.9% in siblings). Indeed, having Fanconi anemia increased HPV positivity 4.9-fold (95% CI, 1.6-15.4) considering age and sexual experience, but did not differ by other potential risk factors. Our studies suggest that oral HPV is more common in individuals with Fanconi anemia. It will be essential to continue to explore associations between risk factors and immune dysfunction on HPV incidence and persistence over time. HPV vaccination should be emphasized in those with Fanconi anemia as a first step to prevent oropharyngeal cancers, although additional studies are needed to determine whether the level of protection it offers in this population is adequate. ©2015 American Association for Cancer Research.

The Student with Sickle Cell Anemia.

Science.gov (United States)

Tetrault, Sylvia M.

1981-01-01

Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)

A novel ubiquitin ligase is deficient in Fanconi anemia.

NARCIS (Netherlands)

Meetei, AR; Winter, de J.P.; Medhurst, A.L. dr.; Wallisch, M; Waisfisz, Q.; Vrugt, van der H.J.; Oostra, A.B.; Yan, Z; Ling, C; Bishop, CE; Hoatlin, M.E.; Joenje, H.

2003-01-01

Fanconi anemia is a recessively inherited disease characterized by congenital defects, bone marrow failure and cancer susceptibility. Cells from individuals with Fanconi anemia are highly sensitive to DNA-crosslinking drugs, such as mitomycin C (MMC). Fanconi anemia proteins function in a DNA damage

Anemia por deficiencia de hierro en mujeres mexicanas en edad reproductiva: historia de un problema no resuelto Iron deficiency anemia among Mexican women on reproductive age: history of an unresolved problem

Directory of Open Access Journals (Sweden)

Esther Casanueva

2006-04-01

between 1939 and 2005 having original data related to anemia were reviewed using electronic databases (Medline and Artemisa and manual searches. Keywords were anemia, iron deficiency, women, and Mexico. The quality of clinical trials was evaluated using the Jadad scale. Anemia prevalence tendency was analyzed using a linear regression weighted according to the sample size. RESULTS: Forty-six research studies were included, nine corresponded to clinical trials and four to federal-operative programs. Seventeen papers reported anemia prevalence in non-pregnant women and twenty-three in pregnant women. In the first group, weighted anemia prevalence had decreased from 39.6 to 15.5%, whereas in pregnant women it decreased from 35 to 25%. Of the clinical trials, 55% were considered to be good quality studies. CONCLUSIONS: Anemia in women on reproductive age, particularly in pregnant women, is still a public health problem in Mexico. If the current conditons continue, it would take 57 years to eradicate anemia in non-pregnant and 121 years in pregnant women. It is necessary to evaluate intervention policies and conduct consistent studies in order to enable appropriate steps to be taken to control anemia.

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... for gastrointestinal bleeding To see if gastrointestinal bleeding is causing your iron-deficiency anemia, your doctor may order the following procedures to guide treatment . Fecal ...

Evaluation of the effect of LED radiation in the repair of skin wounds on the dorsum of rats with iron deficiency anemia

Science.gov (United States)

de Oliveira, Susana Carla Pires Sampaio; de Carvalho Monteiro, Juliana Santos; dos Santos Aciole, Gilberth Tadeu; DeCastro, Isabele Cardoso V.; Menezes, Diego Silva; de Fátima Lima Ferreira, Maria; dos Santos, Jean Nunes; Zanin, Fátima; Barbosa Pinheiro, Antônio Luiz

2010-05-01

Iron deficiency anemia causes reduction on the level of hemoglobin and of the number of RBC and affects around 35% of the human population. Laser and LED therapies have been successfully used on wound healing studies. The aim of the present study was to assess histologically the effect of LED Phototherapy on the healing of cutaneous wounds on anemic rats. Fifty one 21 days old male wistar rats weighting around 50 g were kept under iron free die (Sem ferro-AIN93-G) during 15 days in order to induce anemia. Non treated animals acted as controls. A standartized cutaneous wound was created on the dorsum of each animal whom were distributed into four groups: Group I—Anemia+LED, Group II—Non anemic+LED, Group III—Anemia+no treatment, Group IV—No anemic+no-treatment. Irradiation started immediately after surgery and repeated at 48 h intervals during 21 days. Animal death occurred after 7, 14 and 21 days after wounding. The results of the histologic analysis showed that LED Phototherapy stimulated fibroblastic proliferation. It is concluded that LED irradiation improves wound healing on iron deficient anemic animals.

Sickle Cell Anemia: MedlinePlus Health Topic

Science.gov (United States)

... Cell Disease Also called: Hemoglobin SS disease, Sickle cell anemia On this page Basics Summary Start Here Diagnosis ... red blood cells. This is a condition called anemia , and it can make you feel tired. The ...

Evasion Mechanisms Used by Pathogens to Escape the Lectin Complement Pathway

DEFF Research Database (Denmark)

Rosbjerg, Anne; Genster, Ninette; Pilely, Katrine

2017-01-01

The complement system is a crucial defensive network that protects the host against invading pathogens. It is part of the innate immune system and can be initiated via three pathways: the lectin, classical and alternative activation pathway. Overall the network compiles a group of recognition...... the level of activity. The result is a pro-inflammatory response meant to combat foreign microbes. Microbial elimination is, however, not a straight forward procedure; pathogens have adapted to their environment by evolving a collection of evasion mechanisms that circumvent the human complement system....... Complement evasion strategies features different ways of exploiting human complement proteins and moreover features different pathogen-derived proteins that interfere with the normal processes. Accumulated, these mechanisms target all three complement activation pathways as well as the final common part...

Clinical heterogeneity and chromosome breakage in Iranian patients suspicious of Fanconi anemia

Directory of Open Access Journals (Sweden)

Ghasemi Firoozabadi S

2007-10-01

Full Text Available Background: Fanconi anemia (FA is a rare autosomal recessive disorder characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemia, and bone marrow failure (aplastic anemia. FA has been reported in all races and ethnic groups and affects men and women in an equal proportion. The frequency of FA has been estimated at approximately 1 per 360,000 live births. In some populations, including Ashkenazi Jews, Turks, Saudi Arabians and Iranians, this frequency appears to be higher, probably as a result of the founder effect and consanguineous marriage. Because of extensive genetic and clinical heterogeneity (the age of onset, clinical manifestations and survival, diagnosis of FA on the basis of clinical data alone is unreliable and its molecular diagnosis is difficult. The diagnosis of FA exploits the hypersensitivity of FA lymphocytes and fibroblasts to bifunctional alkylating agents such as mitomycin C (MMC, diepoxybutane (DEB and nitrogen mustard and differentiates it from idiopathic aplastic anemia. In this study, in addition to the patients' clinical profiles, a cytogenetic test using MMC was implemented for an accurate diagnosis of Fanconi anemia.Methods: In this study, the lymphocytes of 20 patients referred for FA, and those of their normal sex-matched controls, were treated with three different concentrations of mitomycin C (20, 30, 40 ng/ml. Slides were prepared and solid stained. In order to determine the number and kind of chromosome abnormalities, 50 metaphase spreads from each culture were analyzed. Clinical information was obtained from patient files.Results: Five patients manifested increased chromosome breakage with MMC, confirming the FA diagnosis. Two different concentrations of MMC (30, 40 ng/ml were most effective.Conclusion: The chromosomal breakage test is important for the accurate diagnosis of Fanconi anemia. DNA crosslinking agents used to treat idiopathic aplastic anemia may be

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... Supplement Fact Sheet (NIH) Iron-Deficiency Anemia (National Library of Medicine, MedlinePlus) ... Privacy Policy Freedom of Information Act (FOIA) Accessibility Copyright and Usage No FEAR ...

Does anemia-polycythemia complicating twin-twin transfusion syndrome affect outcome after fetoscopic laser surgery?

Science.gov (United States)

Donepudi, R; Papanna, R; Snowise, S; Johnson, A; Bebbington, M; Moise, K J

2016-03-01

Twin anemia-polycythemia sequence (TAPS) can occur as a unique disease or as a complication of twin-twin transfusion syndrome (TTTS). Middle cerebral artery (MCA) Doppler studies are not currently part of the routine evaluation of monochorionic twins since they are not used in the Quintero staging system. As such, the true incidence of TAPS is unknown. We aimed to compare the characteristics and outcomes of twin pregnancies with TTTS complicated by spontaneous anemia-polycythemia vs those with TTTS alone. This was a secondary analysis of data collected prospectively from a cohort of 156 consecutive patients undergoing fetoscopic laser surgery for TTTS, between October 2011 and August 2014. TAPS was defined as discordance in the preoperative MCA peak systolic velocity (PSV), with one twin fetus having MCA-PSV ≤ 1.0 multiples of the median (MoM) and the other having MCA-PSV ≥ 1.5 MoM. Maternal demographics as well as preoperative, operative and postoperative variables were analyzed. Included in the final analysis were 133 patients with complete records: 11 cases with TTTS with anemia-polycythemia and 122 cases with TTTS alone. There was no difference in maternal body mass index, gestational age (GA) at procedure, rate of preterm prelabor rupture of membranes or GA at delivery between the two groups. Patients with TTTS and anemia-polycythemia were more likely to be older (P = 0.03) and parous (P = 0.04) and had a significantly lower number of placental anastomoses (P = 0.01). The dual live-birth rate was similar for both groups (P = 0.76). Cases of TTTS with anemia-polycythemia were more likely to be found in parous and older women and were characterized by fewer vascular anastomoses. TTTS with anemia-polycythemia was not associated with worse perinatal outcome after laser therapy. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Epidemiology of aplastic anemia in Japanese radiological technicians