title: Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults.
abstract: OBJECTIVE
  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.affiliation: Department of Pediatrics, Soroka Medical Center, Faculty of Medicine, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Shalev
authors.forename: Y
authors.initials: Y
authors.lastname: Kapleushnik
authors.forename: L
authors.initials: L
authors.lastname: Haeskelzon
authors.forename: O
authors.initials: O
authors.lastname: Degani
authors.forename: T
authors.initials: T
authors.lastname: Kransnov
authors.forename: O
authors.initials: O
authors.lastname: Sphilberg
authors.forename: A
authors.initials: A
authors.lastname: Moser
authors.forename: I
authors.initials: I
authors.lastname: Yaniv
authors.forename: H
authors.initials: H
authors.lastname: Tamary
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D018912:Arabs; D001663:Bilirubin / Q000097:blood; D001803:Blood Transfusion; D002769:Cholelithiasis / Q000150:complications / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000097:blood; D005878:Gilbert Disease / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006529:Hepatomegaly; D006720:Homozygote; D006801:Humans; D007557:Israel; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011627:Puberty; D012727:Sex Characteristics; D013163:Splenomegaly
chemical_list: D006454:Hemoglobins; D005293:Ferritins; D014453:Glucuronosyltransferase; D001663:Bilirubin