Frequency of α-thalassemia in Greece

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Abstract
Using hematological and gene mapping techniques, a cord blood survey was carried out to estimate the frequency of α-thalassemia in the Greek population. Out of 227 newborns studied, 16 (7.05%) were found by gene mapping to be α-thalassemia 2 heterozygotes (-α/αα), and of these only two had increased levels of hemoglobin Bart's in the cord blood (1.2 and 2.0%). Similarly, one heterozygote for the common Mediterranean α-thalassemia 1 haplotype (–/αα) and one for the 20.5-kb deletion type (-α)20.5/αα) were found, showing increased levels of Bart's of 4.8 and 6.6%, respectively. Four (1.76%) heterozygotes for the triple α gene arrangement (ααα/αα) were found. One individual with a level of Bart's in the cord blood of 8% was found to be a double heterozygote for α-thalassemia 2 and a dysfunctional α gene arrangement (-α/-(α)?). These results give an overall incidence for α-thalassemia in the Greek population of 8.4%.