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Congenital dyserythropoietic anemia type IV
Disease definition
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
ORPHA:293825
Classification level: Disorder- Synonym(s):
- CDA IV
- CDA due to KLF1 mutation
- CDA type 4
- CDA type IV
- CDAN4
- Congenital dyserythropoietic anemia due to KLF1 mutation
- Congenital dyserythropoietic anemia type 4
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: D64.4
- OMIM: 613673
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
The prevalence is unknown. Only 4 cases have been reported to date.
Clinical description
Patients have been described as having severe anemia at birth that requires repeated transfusions. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features (large anterior fontanel, hypertelorism, micropenis, and hypospadias) have also been reported. These cases showed increased levels of fetal hemoglobin, a very large number of nucleated red blood cells in peripheral blood and bone marrow erythroblast morphologic abnormalities.
Etiology
CDA IV is due to 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.
Genetic counseling
Genetic counseling is possible for CDA IV. It is inherited in an autosomal dominant manner.
Detailed information
Professionals
- Summary information
- Polski (2013, pdf)
- Review article
- English (2013)
Additional information