The coinheritance of β- and α-thalassemia: A review of one patient and her family

The diagnosis and management of α-thalassemia may be complicated by the variability of the phenotype, which is due to the interaction of coinherited α-thalassemia and the variable severity of β-thalassemia mutations. A well-documented case of complex β- and α-thalassemia coinheritance is described. Laboratory and clinical data for the patient and her family are reviewed. The patient is an asymptomatic girl, one of identical twins. She presented at 1 month of age for follow-up of an abnormal newborn-screening result (hemoglobin F only), which initially suggested homozygosity for β-thalassemia. Extensive studies on the patient and family revealed that she had coinherited α-thalassemia traits and homozygous β-thalassemia. This case demonstrates the interaction of coinherited α- and β-thalassemia with the resultant amelioration of the clinical phenotype. It also highlights the importance of family studies and close follow-up in diagnosing complex hemoglobinopathies.