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Heterogeneity of the α-globin gene defects in German α-thalassemia affected families

✍ Scribed by E. -U. Griese; Elisabeth Kohne; J. Horst

Publisher
Springer
Year
1985
Tongue
English
Weight
404 KB
Volume
71
Category
Article
ISSN
0340-6717

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✦ Synopsis

Analysis of alpha-thalassemia syndromes in several German families revealed DNA deletion as well as non-deletion forms as the molecular basis for the defects. Thus, the alpha-thalassemia haplotype was identified as the (-alpha)3.7 rightward deletion form, and the region of the putative recombination process generating such a deletion was further characterized. In addition three different alpha(0)-thalassemia haplotypes, (--)MED, (--) > 26, and (alpha alpha)T, could be detected using alpha- and zeta-globin gene-specific probes.

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