Hemoglobin Beta Heterozygous Hemoglobin E Plus Insufficiency Genotype

**Semantic type:** Laboratory or Test Result

**Definition:** A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+) and the other copy has an HBB mutation that produces a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE). This genotype is associated with beta thalassemia intermedia.

**Synonyms:** - (B+/BE) - (BE/B+) - B+/BE - BE/B+ - HBB Heterozygous Hb E with Insufficiency Genotype - HBB Heterozygous Hemoglobin E with Insufficiency Genotype - beta-globin genotype (BE/B+)