Conditions / Other
congenital dyserythropoietic anemia type IVb
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A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromoso
A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13.
Signs and symptoms
- Hypersplenism
- Short stature
- Increased total bilirubin
- Hepatomegaly
- Elevated circulating erythropoietin concentration
- Erythroid dysplasia
- Erythroid hyperplasia
- Leukemia
- Anemia
- Hemoglobin Barts