Abstract
Thalassemia is one of the most common hereditary disorders in the Mediterranean region. We report here the results of a premarital screening carried out in Adıyaman in the southeastern region of Turkey, a region with a hitherto unknown incidence of β-thalassemia (β-thal). In order to detect β-thal carrier frequency and genotypes of carriers from the city of Adıyaman, Turkey, both high performance liquid chromatography (HPLC) and the red blood cell counts of 1616 people who applied for premarital tests were analyzed. Blood cell counts were measured by a cell counter and the hemoglobin (Hb) fractionation was carried out by HPLC. The frequency of β-thal carriers in the city of Adıyaman was 1.91% and the frequency of abnormal Hbs was 0.07%. We report 28 chromosomes of β-thal traits with 10 different mutations, including the first report of codon 17 (AAG>TAG) in Turkey and one individual who was heterozygous for Hb D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA]. This study was the first to be performed on the frequency and molecular pathology of β-thal mutations in Adıyaman in the southeastern region of Turkey. We report that the prevalence of the thalassemia trait is similar in all regions of our country, but the prevalence of mutation ...Continue Reading
References
Apr 11, 1989·Nucleic Acids Research·C R NewtonA F Markham
Jul 1, 1993·Pediatric Hematology and Oncology·I BircanN Akar
Mar 12, 1998·American Journal of Hematology·G O TadmouriA N Başak
Feb 13, 2001·European Journal of Haematology·V LaosombatS Fucharoen
Mar 30, 2001·Acta Haematologica·S GüleşkenG Irken
May 3, 2001·Blood Reviews·S Tuzmen, A N Schechter
Aug 2, 2001·Hemoglobin·G O Tadmouri, A N Başak
Aug 2, 2001·Hemoglobin·M A CürükG T Yüreğir
Sep 28, 2002·American Journal of Hematology·Saovaros SvastiSuthat Fucharoen
Dec 3, 2003·Hemoglobin·H Hakan InceEkrem Muftuoglu
May 22, 2004·Acta Haematologica·I KeserG Luleci
Dec 24, 2005·Hemoglobin·Erol O AtalayAylin Köseler
Apr 14, 2006·Community Genetics·Duran CanatanSema Ozbas
May 27, 2006·Pediatric Hematology and Oncology·Mehmet GurbakAhmet Ergin
Feb 16, 2007·American Journal of Hematology·Maria SamaraPanagoula Kollia
May 9, 2007·Hemoglobin·A Nazi Basak
May 11, 2007·Clinical Genetics·H F PanT Huang
Jan 29, 2008·Public Health·H AcemogluA Guraksin
Jul 21, 2010·Hemoglobin·Adamantia PapachatzopoulouAglaia Athanassiadou
Sep 22, 2010·Hemoglobin·Milena RadmilovicSonja Pavlovic
Jan 22, 2011·Hemoglobin·Inanc MendilciogluGuven Luleci
Citations
Nov 19, 2014·Hemoglobin·Adnan IncebiyikMehmet Vural
Jun 16, 2015·Hemoglobin·Ferda OzkinayCanan Vergin
Aug 18, 2012·Pediatric Hematology and Oncology·Ahmet GencAygul Tuncdemir
Oct 28, 2016·Balkan Journal of Medical Genetics : BJMG·A UludağÖ Özdemir
Jul 18, 2020·Hemoglobin·Ahmet GencEyyup Rencuzogullari
Dec 16, 2020·Expert Review of Hematology·Aisha Moeen KhanHatem Zayed