The beta-thalassaemia mutations in the population of Cyprus.

Abstract:

:We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot beta-thalassaemia homozygotes and in over 700 Greek Cypriot beta-thalassaemia heterozygotes living on the island of Cyprus. The data confirmed earlier observations that the IVS-I-100 (G-->A) mutation is present for about 74-80%, while three other alleles [IVS-II-745 (C-->G), IVS-I-6 (T-->C), IVS-I-1 (G-->A)] occur at frequencies of 5-8%. Nearly identical percentages were observed for the two Cypriot groups, quite different from those for beta-thalassaemia patients from Greece and Turkey. This suggests close contacts between the two Cypriot communities during many centuries without a major recent influence from Greek or Turkish beta-thalassaemia carriers.

journal_name

Br J Haematol

authors

Baysal E,Indrak K,Bozkurt G,Berkalp A,Aritkan E,Old JM,Ioannou P,Angastiniotis M,Droushiotou A,Yüregir GT

doi

10.1111/j.1365-2141.1992.tb03000.x

subject

Has Abstract,Author List Incomplete

pub_date

1992-08-01 00:00:00

pages

607-9

issue

4

eissn

0007-1048

issn

1365-2141

journal_volume

81

pub_type

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