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hemoglobin H disease

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.
Uniprot Description A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.
Mondo Term and Equivalent IDs
MONDO:0013512:  hemoglobin H disease
NCIT:C95504: 
Orphanet:93616: 
SCTID:48553001: 
UMLS:C3161174: