Condition: Congenital dyserythropoietic anemia type IV


rs267607201 in KLF1 gene and Congenital dyserythropoietic anemia type IV PMID 25585695 2015 Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

PMID 21055716 2010 A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.