Document Detail


Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults.
MedLine Citation:
PMID:  12068798     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
Authors:
H Shalev; Y Kapleushnik; L Haeskelzon; O Degani; T Kransnov; O Sphilberg; A Moser; I Yaniv; H Tamary
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of haematology     Volume:  68     ISSN:  0902-4441     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2002 Mar 
Date Detail:
Created Date:  2002-06-17     Completed Date:  2002-06-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  170-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Soroka Medical Center, Faculty of Medicine, Ben Gurion University of the Negev, Beer Sheva, Israel.
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MeSH Terms
Descriptor/Qualifier:
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:
0/Hemoglobins; 635-65-4/Bilirubin; 9007-73-2/Ferritins; EC 2.4.1.17/Glucuronosyltransferase

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