Hemoglobin Beta Heterozygous Hemoglobin E Plus Null 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 a 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a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia intermedia.

**Synonyms:** - (B0/BE) - (BE/B0) - B0/BE - BE/B0 - HBB Heterozygous Hb E with Null Genotype - HBB Heterozygous Hemoglobin E with Null Genotype - beta-globin genotype (BE/B0)