Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.

ABSTRACT

Thalassemia major is a rare disorder in the German population. We describe here the characterization of the beta-globin genes of a German patient homozygous for beta-thalassemia. Gene cloning and sequencing revealed a G to T transversion at the intron 1 donor site of the beta-globin gene on both chromosomes.