Severe congenital hypochromic anemia with ringed sideroblasts

Orpha code: 300298OMIM code: 615234

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.

Disease data
Classification

Disease

Synonyms
Severe congenital hypochromic sideroblastic anemia
Ciężka wrodzona niedokrwistość syderoblastyczna niedobarwliwa
ORPHA code
300298
OMIM code
615234
ICD10 code
D64.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl