β‐thalassemia in the German population: Mediterranean,Asian and novel mutations

The β‐thalassemia mutations of 13 unrelated heterozygous Germans who remained unidentified in a previous study of 40 subjects were investigated at the DNA level. Two Mediterranean, one Asian and three novel mutations (CD6 ‐G, CDs 108 /112‐12nt, CDs 130/131 +GCCT) were identified. Altogether, in 30 of the 35 subjects (86%) in which a mutation in the β‐globin gene was identified, the mutation was of Mediterranean origin. The geographical distribution suggests recent migration from the Mediterranean region as cause of the high proportion of frequent Mediterranean β‐thalassemia mutations in the German population. Our results support the notion that the majority of β‐thalassemia genes in the western and central European population are of Mediterranean origin. © 1999 Wiley‐Liss, Inc.