Alpha-globin gene deletion causes alpha-thalassemia syndromes in two German families

Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the alpha-globin gene deletion or non-deletion form of alpha-thalassemia is the underlying molecular defect in individuals of two unrelated German families with alpha-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of alpha-globin genes resulting in -alpha/alpha alpha, --/alpha alpha, and --/-alpha genotypes in alpha-thalassemia-2, alpha-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.