congenital dyserythropoietic anemia type IVb

Term ID

DOID:0051002

Synonyms

Definition

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. https://pubmed.ncbi.nlm.nih.gov/25724378/

References

• MIM:620969

Ontology

Human Disease   ( DOID:0051002 )