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GENATLAS PHENOTYPE

last update : 02-05-2012

Symbol	THBE
Location	11p15.4
Name	thalassemia, with hemoglobin E
Corresponding gene	HBE1
Main clinical features	beta-thalassemia/Hb E disease erythroblasts from beta-thalassemia/Hb E patients only showed activation of the unfolded protein response pathway in response to internal stress the failure of thalassemic erythroblasts to cope with cellular stress caused by an impaired UPR function as a result of high Ca(2+) levels may exacerbate thalassemic cell death during erythropoiesis (PMID: 20015891))
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	disease

Remark(s)