DETECTION OF COMMON BETA THALASSEMIA MUTATIONS AMONG EGYPTIAN PATIENTS

Abstract

Beta-thalassemia is one of most common autosomal recessive disorders worldwide. High prevalence is present in populations in the Mediterranean, Middle-East, Transcaucasia, Central Asia, Indian subcontinent, and Far East. It is also relatively common in populations of African descent. The highest incidences are reported in Cyprus, Sardinia, and South East Asia. In Egypt, although more than 20 different mutations have been detected so far to cause the disease, the information available concerning the underlying molecular defects in b-thalassemia has not yet been completed. The current study aims to detect the most common β -globin gene mutations in Egypt among β-thalassemic patients by using PCR based reverse hybridization method (StripAssay) for the most prevalent 22 β-globin gene mutations in the mediterranean population in an attempt to estimate the incidence of each mutation, and an attempt to improve our control strategy of β- thalassemia. This study included a total of 37 confirmed β- thalassemia ethnic Egyptian patients (23 males and 14 females) out of them 17 patients were a thalassemia major and 20 were a thalassemia intermediate. Evaluation of β-thalassemia mutations revealed that, the presence of 9 different β-globin mutations. The most frequent mutation were IVS 1-110[34%], IVS 1-6(23.5%), IVS 1-1(19%), Codon 27[6.5%], IVS 2-848[6.5%], IVS 2-745[2.1%] and IVS 2.1 [2.5%], Codon 39[4%]), and IVS 1.5 [1.5%]. IVS 1-110[G>A] is the commonest homozygous mutation while, IVS 1-110[G>A]/ IVS 1-6[T>C] is the commonest heterozygous mutation.Three mutations (IVS 1-110[G>A], IVS 1-6[T>C], IVS 1-1[G>A]) were account for about 76% of mutations in our studded alleles. In conclusion, knowledge of these mutations can provide an insight into the prognosis for individual patients, especially in young ages or before birth to take proper measures in advance and eventually ameliorate the symptoms in the long run.