Congenital dyserythropoietic anemia type III.

A case of congenital dyserythropoietic anemia type IV

Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV.

Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.

Both paroxysmal nocturnal hemoglobinuria (PNH) type II cells and PNH type III cells can arise from different point mutations involving the same codon of the PIG-A gene.

H, Testa U: Defect in glycosylation of erythrocyte membrane pro1. Fischer R, Engelhardt R, Nielsen P, Gabbe EE, Schmiegel teins in congenital dyserythropoietic anaemia type II (HEMPAS). WH, Wurbs D, Heinrich HC: Liver iron quantification in the diagBr J Haematol 56:55, 1984 nosis and therapy control of iron overload patients, in Hoke M 8. Parsons SF, Jones J, Anstee DJ, Judson PA, Gardner B, Wi...

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia.

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 dise...

A new type of transfusion-dependent congenital dyserythropoietic anemia.

Cases of congenital dyserythropoietic anemia (CDA) that do not conform to any of the three classical types often present diagnostic difficulties and are at risk of developing secondary hemochromatosis. Here, we report a case of a six year old boy with transfusion dependency and gross abnormalities of the erythroblasts.