Variable clinical expression of homozygous beta thalassaemia in a Ghanaian family.

Abstract

In spite of the relatively high frequency of beta thalassemia genes in some African populations, reported cases of homozygous beta thalassemia are rare. A Ghanaian family is presented in which 3 siblings have the hematological findings and the necessary genetic background compatible with the diagnosis of homozygous beta thalassemia. The propositus has a clinically severe disease with transfusion dependency (thalassemia major) while the disease in the other 2 siblings appears to be clinically much milder (thalassemia intermedia). It is suggested that other genetic factors may be responsible for the variable clinical expression of the disease in this family. Documentation and follow up of more cases of homozygous beta thalassemia will greatly help to delineate the clinical and genetic patterns of the disease in Africa.