Hemoglobin E disease

Overview

Type of disease: Rare conditions

Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal recessive pattern and is caused by a particular mutation in the HBB gene. The mutation that causes hemoglobin E disease has the highest frequency among people of Southeast Asian heritage (Cambodian, Laotian, Vietnamese and Thai). However, it is also found in people of Chinese, Filipino, Asiatic Indian, and Turkish descent. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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