Abstract
Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T →C) and IVSI-110 (G →A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T →C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G →A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.
Highlights
IntroductionThalassemia refers to a group of inherited blood disorders
The term thalassemia is derived from the Greek, thalassa and haima
Thalassemia can be classified into alpha and beta thalassemias by their clinical manifestations and their genetic background. β-thalassemia is a common genetic disorder caused by mutations in one or more of the β-globin gene loci that result in reduced β-globin production [3]
Summary
Thalassemia refers to a group of inherited blood disorders. They occur most commonly among Asian people especially Southeast Asian, Southern Asian and people of Mediterranean ancestry [1] which was recognized in 1925 for the first time by Tomase Cooley and Lee [2]. Β-thalassemia is a common genetic disorder caused by mutations in one or more of the β-globin gene loci that result in reduced β-globin production [3]. The β-globin chain is encoded by the HBB gene, which spans 1.6 kb on the short-arm of chromosome 11 (11p15.4) [5]. The HBB gene is regulated by a 5' promoter region that contains the classical TATA, American Journal of Life Sciences 2016; 4(2): 40-46
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