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CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease
1Department of Obstetrics and Gynecology, Guangzhou Women and Children Medical Center , Guangzhou, Guangdong , People's Republic of China.
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.
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