SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719453009
http://purl.bioontology.org/ontology/SNOMEDCT/719453009
Preferred Name

Congenital dyserythropoietic anemia type IV

Definitions
A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.
Synonyms
Congenital dyserythropoietic anemia type IV (disorder)
Congenital dyserythropoietic anaemia type IV
Congenital dyserythropoietic anaemia type 4
Congenital dyserythropoietic anemia type 4
Type http://www.w3.org/2002/07/owl#Class
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