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A novel variant mutation for congenital dyserythropoietic anemia, type II

✍ Scribed by Song, Joo Y.; Pawar, Anjali; Collins, Christin


Book ID
122111338
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
441 KB
Volume
53
Category
Article
ISSN
1079-9796

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Congenital dyserythropoietic anemia type
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Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused

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Thoracic masses resulting from extramedullary hematopoiesis developed in two sisters of Moroccan origin with congenital dyserythropoietic anemia type I1 (HEMPAS). In one patient, the diagnosis of extramedullary hematopoiesis was confirmed histologically. The appearance of extramedullary foci of hema