Clinical Laboratory Manifestation and Molecular Diagnosis of beta-Thalassemia Patients in Iraq

摘要

Many studies determined the demographic and ethnic border of patients with beta (beta)-thalassemia mutations and their migration. The effective way to health care policy of beta-thalassemia is to prevent homozygote births and reduce the severity of the disease. The objectives of this study contributed to investigating the molecular and serologic characteristics of beta-thalassemia patients in Iraq. Peripheral blood samples were collected from 97 beta-thalassemia patients and 32 healthy control subjects. Quantitative sandwich enzyme-linked immunosorbent assay was performed to measure serum ferritin, 25-hydroxy vitamin D, and 8-hydroxydeoxyguanosine (8-OHdG) levels. Further, the beta-globin mutation detection assay involving an extensive screening of beta-globin mutations by direct Sanger DNA sequencing and gap-PCR was performed to detect the Delta 619 deletion mutation. The results revealed that compared with the control subjects, the beta-thalassemia patients showed significantly decreased vitamin D levels and significantly increased serum ferritin and 8-OHdG levels (all, P A and IVS 1-5 G > C, have been previously reported in Iraqi studies, whereas the remaining 7, namely IVS-II-666 C > T, CD2 CAT > CAC, IVS-II- 850 G > A, IVS-II- 16 G T, have never been reported in the Iraqi population. This study showed that the serum ferritin and 8-OHdG levels were significantly higher, and the serum 25-hydroxy vitamin D levels were significantly lower in the beta-thalassemia patients than in the control subjects. Moreover, the results revealed seven newly identified mutations among Iraqi beta-thalassemia patients and 2 previously reported mutations.