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severe congenital hypochromic anemia with ringed sideroblasts

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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 except for increased erythrocyte protoporphyrin levels.
Uniprot Description A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly.
Mondo Term and Equivalent IDs
MONDO:0014094:  severe congenital hypochromic anemia with ringed sideroblasts
Orphanet:300298: 
SCTID:725463007: 
UMLS:C3808920: 
UMLS:C4511137: