Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece

Hemoglobin
Adamantia PapachatzopoulouAglaia Athanassiadou

Abstract

beta-Thalassemia (beta-thal), is caused by reduced or absent synthesis of beta-globin chains resulting in impaired erythropoiesis. It is the most common single gene defect disease in Greece, with heterozygous rates reaching, on average, 8% in the general population. Here, we performed molecular analyses on 199 unrelated beta-thal and compound beta-thal/sickle cell disease patients, of whom 157 originated from three prefectures of South-Western Greece, namely Achaia, Ilia and Etoloakarnania. Our results indicate that the frequency of specific HBB gene mutations, namely the HBB:c.118C>T (codon 39, C>T), HBB:c.92+6T>C (IVS-I-6, T>C), and HBB:c.20A>T [Hb S, beta6(A3)Glu-->Val, GAG>GTG], present distinct distribution patterns in the Achaia and Ilia prefectures (p < 0.001, p < 0.003 and p < 0.002, respectively). This detailed analysis of the distribution of the HBB gene mutations is useful for genetic counseling in the region, and illustrates that the identification of the HBB gene mutation spectrum in this region is necessary for population carrier screening and for efficient provision of prenatal diagnosis.

References

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Mar 8, 2006·European Journal of Haematology·Adamantia PapachatzopoulouAglaia Athanassiadou
Jun 15, 2007·British Journal of Haematology·Caterina Borgna-Pignatti
Dec 22, 2007·Blood Cells, Molecules & Diseases·Marina BoussiouAphrodite Loutradi-Anagnostou
Feb 16, 2008·Hemoglobin·George P Patrinos, Frank G Grosveld

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Citations

Jul 4, 2012·Human Mutation·George P PatrinosUNKNOWN International Confederation of Countries Advisory Council
Dec 20, 2014·Hemoglobin·Rakesh KumarPurnima Kishor
Feb 24, 2012·Hemoglobin·Ahmet GencMurat Celiker
Jan 22, 2011·Hemoglobin·Marianthi GeorgitsiGeorge P Patrinos

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