| Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. | |
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MedLine Citation:
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PMID: 12068798 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: Congenital dyserythropoietic anemia (CDA) type I is a rare autosomal recessive macrocytic anemia whose natural history is not well documented. The aim of the present study was to evaluate the clinical picture of the disease in young adults. METHODS: The study sample consisted of 17 patients of mean age 11.9 +/- 5.4 yr (range 18-33 yr) and one older patient (age 44 yr), all Israeli Bedouins. The degree of anemia was evaluated as well as the extent of development of gallstones and iron overload. In each subject we determined the hemochromatosis gene mutations and the uridine dyphosphate-glucoronosyltransferase (UGT-1A) gene polymorphism associated with Gilbert's syndrome. RESULTS: The patients were found to have moderate anemia, with the women displaying lower mean hemoglobin levels than the men (8.2 +/- 0.9 g dL(-1) vs. 10 +/- 1.3 g dL(-1); P=0.0059). The majority of patients (59%) had received at least one blood transfusion, with the women having a significantly higher transfusion requirement. Although delayed puberty was noted, final height and weight were within normal limits, and eight patients had progeny. Biliary stones were found in three of 16 patients, two of whom were homozygous for UGT-1A gene polymorphism. None of the patients carried the common hemochromatosis gene mutation, although serum ferritin levels were moderately elevated (788 +/- 332 ng mL(-1)). CONCLUSIONS: CDA type I in young adults is characterized by moderate macrocytic anemia, more severe in women, and a tendency to cholelithiasis and secondary progressive iron overload. We suggest that iron overload in this patient population should be monitored and chelation therapy initiated when indicated to prevent organ damage |
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Authors:
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H Shalev; Y Kapleushnik; L Haeskelzon; O Degani; T Kransnov; O Sphilberg; A Moser; I Yaniv; H Tamary |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of haematology Volume: 68 ISSN: 0902-4441 ISO Abbreviation: Eur. J. Haematol. Publication Date: 2002 Mar |
Date Detail:
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Created Date: 2002-06-17 Completed Date: 2002-06-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8703985 Medline TA: Eur J Haematol Country: Denmark |
Other Details:
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Languages: eng Pagination: 170-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Soroka Medical Center, Faculty of Medicine, Ben Gurion University of the Negev, Beer Sheva, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age Factors Anemia, Dyserythropoietic, Congenital / complications, diagnosis*, genetics Arabs Bilirubin / blood Blood Transfusion Cholelithiasis / complications, genetics Female Ferritins / blood Gilbert Disease / genetics Glucuronosyltransferase / genetics Hemochromatosis / genetics Hemoglobins / analysis Hepatomegaly Homozygote Humans Israel Male Mutation Polymorphism, Genetic Pregnancy Puberty Sex Characteristics Splenomegaly |
| Chemical | |
Reg. No./Substance:
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0/Hemoglobins; 635-65-4/Bilirubin; 9007-73-2/Ferritins; EC 2.4.1.17/Glucuronosyltransferase |
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