Prevalence of β0and β+Thalassemia Genes in Greek Children with Homozygous β-Thalassemia

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Abstract
In an attempt to estimate the prevalence of .beta.o and .beta.+ thalassemia (thal) genes in Greece, chromatographic analysis of Hb was performed in 30 children with homozygous .beta.-thal prior to any transfusion. In 13 (43%), no HbA was detected, suggesting the presence of .beta.o gene in the homozygous state (.beta.o/.beta.o thal). In the remaining 17, HbA showed a bimodal distribution with values ranging from 4-36%. The detection of HbA suggests the presence of .beta.+ gene, while the bimodal distribution could be explained by the assumption that the .beta.+ gene in single dose and in combination with .beta.o gene (.beta.o/.beta.+ thal) results in the production of small amounts of HbA ranging from 4-11% (1st curve), while in double dose (.beta.+/.beta.+ thal) there is production of higher amounts of HbA ranging from 24-36% (2nd curve). The .beta.o/.beta.+ thal was observed in 11 (37%) and the .beta.+/.beta.+ thal in 6 (20%). Both .beta.o and .beta.+ genes are common in Greece. Chromatographic analysis helps to determine the genotype of patients with homozygous .beta.-thalassemia.