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

✍ Scribed by Gebhard Flatz; Klaus Wilke; Yana V. Syagailo; Antonin Eigel; Jürgen Horst

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
52 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

The beta-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 beta-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 beta-thalassemia mutations in the German population. Our results support the notion that the majority of beta-thalassemia genes in the western and central European population are of Mediterranean origin.

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