Genetic Modifiers in β-Thalassemia Intermedia: A Study on 102 Iraqi Arab Patients

Genetic Testing and Molecular Biomarkers
Nasir A S Al-AllawiChristian Oberkanins

Abstract

To determine the molecular basis of β-thalassemia intermedia (TI) and the contribution of the three hemoglobin F (HbF) quantitative trait loci (QTLs) on chromosomes 11, 2, and 6 to the milder phenotype, a total of 102 Iraqi Arab patients with TI were studied. The β and α genotypes as well as HBG2 g. 158 C>T (rs7482144), BCL11A (rs1427407 and rs10189857), and HBS1L-MYB (rs28384513 and rs9399137) by multiplex polymerase chain reaction and reverse hybridization were studied. A total of 21 different β-thalassemia mutations arranged in 35 different genotypes were identified. The genotypes encompassed β(+)/β(+) mutations in 33 cases, β(+)/β(0) in 17 cases, β(0)/β(0) in 47 cases, β(0)/wild type in 3 and β(0)/Hb E in 2 cases. The most common was IVS-II-1 (G>A)/IVS-II-1 (G>A), followed by IVS-I-6 (T>C)/IVS-I-6 (T>C) and IVS-I-110 (G>A)/IVS-I-110 (G>A), in 31.4%, 17.6%, and 6.9%, respectively. Alpha-thalassemia mutations were found in 15.2% of those homozygous for the β-mutations, while α gene triplication was identified in all three heterozygotes. Of the five QTLs tested, only rs7482144 and rs10189857 were significantly associated with β(0)/β(0) when compared to β(+)/β(+), with odds ratios of 6.4 (95% confidence interval [CI] 2.9-14.0) ...Continue Reading

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Citations

May 6, 2019·Southern Medical Journal·Carroll FlansburgLorena Madrigal
Feb 28, 2017·British Journal of Haematology·Zhihua JiangDavid H K Chui
Mar 2, 2019·BMC Hematology·Rashail FaraonMahmoud A Srour
Mar 20, 2020·BioMed Research International·Shaema Salih AminTara Jamel Osman
Dec 19, 2020·International Journal of General Medicine·Shaema AminAbdalhamid M-Saeed

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Methods Mentioned

BETA
electrophoresis
genotyping

Software Mentioned

SPSS

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