Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation

AbstractAmong individuals of Mediterranean or Middle Eastern descent, the IVS‐I‐6 (T→C) mutation is one of the most common causes of β‐thalassemia. In this report, we describe the clinical phenotypes of a group of β‐thalassemia patients who are compound heterozygotes for the relatively mild IVS‐I‐6 (T→C) β‐thalassemia mutation and more severe β+‐ or β°‐thalassemia mutations. Although most of these patients are transfusion‐dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant α‐thalassemia and a mild transfusion‐independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.

Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation Journal Articles