Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients. Materials and Methods. A total of 174 transfusion-dependent β-thalassemia patients and 164 healthy controls from Eastern Province of Saudi Arabia were genotyped for fourteen single nucleotide polymorphisms (SNPs) from the three QTL regions using TaqMan assay on real-time PCR. Results. Genotype analysis revealed that six alleles of HBS1L-MYB QTL (rs9376090C p = 0.0009, rs9399137C p = 0.008, rs4895441G p = 0.004, rs9389269C p = 0.008, rs9402686A p = 0.008, and rs9494142C p = 0.002) were predominantly associated with β-thalassemia. In addition, haplotype analysis revealed that haplotypes of HBS1L-MYB (GCCGCAC p = 0.022) and HBG2 (GTT p = 0.009) were also predominantly associated with β-thalassemia. Furthermore, the HBS1L-MYB region also exhibited association with the high HbF cohort. Conclusion. The stimulation of HbF gene expression may provide alternative therapies for the amelioration of the disease severity of β-thalassemia.

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This study was conducted to measure a group of hormones related with infected individuals with the shortage of the growth hormone by studying 150 patients in comparison with 50 samples taken from normal individuals as a control group. The study included investigation GH gene via polymerase chain reaction technology (PCR) by two primers designed specifically for this study (GH3, GH4). The results showed that mutations occurred in 12 individuals from the samples, 8% for GH3 , whereas the GH4 showed no absence or disorder in the sequence of bases. The results of Sequencing using the Blast program showed appearance of many mutations of deletion mutations and insertion mutations , and substitution mutations of two types of transition and transversion. The concentration of hormones has been measured were human Testosterone hormone , Prolactin hormone ,Cortisol hormone ,The results showed a highly significant differences in the levels of the averages of hormonal analysis , as well as a significant decrease in the average length of individuals and high moral appeared in body mass index(BMI) under the moral under the moral level of P ≤ 0.05.

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