Description

Congenital Dyserythropoietic Anemia Type IV is a rare form of congenital dyserythropoietic anemia.


Chromosome: 19p13.13

Gene: KLF1 (Kruppel like factor 1)

 

Inheritance: autosomal dominant

 

Clinical features:

(1) normocytic anemia from birth, occasionally with hydrops fetalis

(2) dyserythropoiesis

(3) elevated hemoglobin F

(4) mild hemolysis with elevated serum LDH and decreased serum haptoglobin

(5) hepatomegaly and splenomegaly

(6) bi- or multi-nucleated erythroblasts


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