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Distribution and frequency of β ‐thalassemia mutations in northwestern and central Greece
Author(s) -
Georgiou I.,
Makis A.,
Chaidos A.,
Bouba I.,
Hatzi E.,
Kranas V.,
Zilidis C.,
Bourantas K. L.
Publication year - 2003
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2003.00017.x
Subject(s) - beta thalassemia , thalassemia , population , genetics , mutation , prenatal diagnosis , allele frequency , biology , medicine , genotype , gene , environmental health , pregnancy , fetus
Objectives : β ‐Thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of the β ‐globin genes. The spectrum of β ‐thalassemia mutations in Greece has been previously described in the population of the capital city of Athens, or in β ‐thalassemia patients having transfusion therapy. The aim of the present study was to identify the distribution of the most common β ‐thalassemia mutations in the population of northwestern and central Greece. Methods : The data for this study were derived from a total of 1130 unrelated subjects including 46 β ‐thalassemia major, three β ‐thalassemia intermedia and 1081 carriers identified in our antenatal screening program. β ‐Thalassemia mutations were identified by ARMS, DGGE and Reverse Dot Blot. Results : The most common mutation, IVS‐I‐110, is followed, in order of frequency, by the mutations Cd‐39, IVS‐I‐1, IVS‐II‐1, Cd‐6, IVS‐I‐6, IVS‐I‐5, IVS‐II‐745, Cd‐5 and 44 bp del. IVS‐I‐110 and Cd‐39 frequencies are similar with those found in other Balkan countries. Significant differences in regional distribution were observed. The results showed a clear drift of the distribution of the most frequent IVS‐I‐110 mutation in the south–north (29.4, 40.0, 44.6 and 61.7%) and the east–west axis (31.8 and 44.6%). Conclusions : Population screening and prenatal diagnosis are significantly facilitated by these data. Furthermore, the detailed distribution tables of β ‐thalassemia mutations are essential for counseling and extraction of genetic diversity estimates for population genetic studies in other inherited disorders.