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
Mar 1, 1990·British Journal of Haematology·C KattamisT H Huisman
Mar 1, 1994·Blood Reviews·A CaoM C Rosatelli
Jan 1, 1997·Human Mutation·M PapadakisA Loutradi-Anagnostou
Mar 12, 1998·American Journal of Hematology·G O TadmouriA N Başak
May 26, 1999·FEMS Microbiology Letters·T A Tatusova, T L Madden
Dec 6, 2001·Human Molecular Genetics·V ViprakasitD R Higgs
Feb 13, 2003·European Journal of Haematology·I GeorgiouK L Bourantas
Apr 27, 2004·Human Mutation·Christina VrettouEmmanuel Kanavakis
Mar 19, 2005·Human Mutation·George P PatrinosManoussos N Papadakis
Sep 16, 2005·The New England Journal of Medicine·Deborah Rund, Eliezer Rachmilewitz
Dec 13, 2005·Annals of the New York Academy of Sciences·Sylvia T SingerElliott P Vichinsky
Mar 8, 2006·European Journal of Haematology·Adamantia PapachatzopoulouAglaia Athanassiadou
Feb 16, 2007·American Journal of Hematology·Maria SamaraPanagoula Kollia
May 12, 2007·Human Mutation·Joël ZlotogoraGeorge P Patrinos
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
Citations
Apr 6, 2013·Pharmacogenomics·Christina TafraliGeorge P Patrinos
Mar 3, 2012·Pharmacogenomics·Konstantinos MitropoulosGeorge P Patrinos
Jul 4, 2012·Human Mutation·George P PatrinosUNKNOWN International Confederation of Countries Advisory Council
Nov 23, 2010·Human Mutation·George P PatrinosRichard G H Cotton
Jan 15, 2013·ISRN Hematology·Vasilis GoulasCharalambos Camoutsis
Dec 20, 2014·Hemoglobin·Rakesh KumarPurnima Kishor
Sep 5, 2012·Hemoglobin·Emily GiannopoulouGeorge P Patrinos
Dec 23, 2011·Hemoglobin·Christoforos KalleasIoannis Tentes
Feb 24, 2012·Hemoglobin·Ahmet GencMurat Celiker
Oct 13, 2012·Pharmacogenomics·Joseph BorgGeorge P Patrinos
Apr 12, 2017·Acta Haematologica·Nikolaos SousosEfthymia Vlachaki
Aug 15, 2019·Hemoglobin·Sedat Yılmaz
Dec 28, 2018·Blood Research·Seung Jun ChoiJihyang Lim
Jan 22, 2011·Hemoglobin·Marianthi GeorgitsiGeorge P Patrinos