CODON 30 (–GAG) (α2): Hematological Parameters in Heterozygotes and also Patients with Hb H Disease

Abstract

We describe five Chinese individuals carrying a codon 30 (–GAG) (α2) (HBA2: c.91_93del) mutation, including three heterozygotes and two patients with Hb H (β4) disease. The heterozygotes presented hematological parameters of microcytosis and hypochromia. The Hb H disease patients were transfusion-independent and had survived to adulthood. Screening for this nondeletional allele, and correlation of genotype with phenotype in Hb H disease is important for genetic counseling.

• α-Thalassemia (α-thal)
• Codon 30 mutation
• Hb H disease
• Genotype
• Phenotype