(G?A?dβ)0-Thalassemia: Report of two cases in a family

Case 1 presented with severe anemia and received an intrauterine blood cell transfusion at 33 weeks of gestation. The anemia spontaneously improved in early infancy. Case 2, the father of Case 1, had an uneventful birth with no evidence of anemia, though microcytic anemia was observed during childhood. The genetic analysis of the beta-globin gene cluster identified a novel heterozygous deletion of DNA extending from the G.-globin gene downstream to the beta-globin gene, confirming a diagnosis of ((G)gamma(A)gamma delta beta)(0)-thalassemia. In cases where thalassemia is suspected based on blood tests, a genetic diagnosis should be performed for the sake of the offspring.

Automated summary

This article describes two cases, one of which involves a baby who received a blood transfusion during gestation and spontaneously improved from anemia in early infancy. The second case involves the father of the baby, who had no evidence of anemia at birth but developed microcytic anemia during childhood. Genetic analysis identified a novel heterozygous deletion in the beta-globin gene cluster, confirming a diagnosis of (G)gamma(A)gamma delta beta)(0)-thalassemia. A genetic diagnosis should be performed in suspected cases of thalassemia for the sake of the offspring.