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Severe congenital hypochromic anemia with ringed sideroblasts
Disease definition
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.
ORPHA:300298
Classification level: DisorderSummary
Epidemiology
It has been reported in 3 siblings to date.
Etiology
STEAP3/TSAP6-related sideroblastic anemia is caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele.
A summary on this disease is available in Español (2013) Nederlands (2013)
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