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Abstract
This study covers the molecular characterization of clinically diagnosed β-thalassemia intermedia (β-TI) patients in Pakistan. Blood samples of β-TI patients were collected from all four provinces of Pakistan throughout the period of 2011-2013. The study was carried out using allele-specific primers through polymerase chain reaction or sequencing to determine both α- and β-thalassemia (α- and β-thal) mutations, and restriction enzymes for the characterization of β-globin gene arrangements. In a total of 63 patients, the IVS-I-5 (G > C) was the most frequent mutation (33.88%). The codon 30 (G > A) and IVS-II-1 (T > C) mutations were found only in the Punjabi ethnic group, while the codon 30 (G > C) and Hb S (HBB: c.20A > T) mutations were found only in the Pashtoon and Sindhi ethnic groups, respectively. In case of α-globin genotypes, 44 patients were normal (αα/αα), six patients carried the αα/–α3.7 genotype, 12 patients carried the −α3.7/−α3.7 genotype, while one patient had the αα/αααanti 3.7 genotype. We found that haplotype I was the most frequent, mostly associated with the codons 8/9 (+G) mutation, while the Saudi haplotype was found only with Hb S.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
Supplementary material available online
Supplementary Table 1 and Figure 1