Family study of thalassaemia in Assiut

ABSTRACT

Family studies were done for a patient with pallor resistant to iron therapy and 4 patients with evidence of hemolytic disorders. This entailed the inclusion of 16 other subjects in this study. All subjects were of pure Egyptian stock born in the city of Assiut. An adult male and adult female were diagnosed homozygous thalassaemia. Four cases of heterozygous thalassaemia were diagnosed. They comprised a female with pallor resistant to iron - therapy, her father and her brother and the mother of a girl with a hemolytic disorder. In all of them, the thalassaemia gene was associated with gene for Hb Knossos in cis. Five cases with thalassaemia intermedia resulting from different genetic interactions comprised a young girl, an adult female and her brother and 2 adult males. All showed evidence of hemolytic disorder. The girl proved to be a compound heterozygous state for conventional B-thalassaemia gene and Hb Knossos. The adult female, her brother and one of the adult males were probably compound heterozygous states for a conventional B-thalassaemia gene and silent one. The other adult male was probably diagnosed homozygous B-thalassaemia interacting with one -thalassaemia gene