The Relevance of rs34598529 SNP of HBB Gene among β-thalassemic Patients Dependent on Blood Transfusions in Thi-Qar Governate

Abstract

Thalassemia is a recessive hereditary disease which is a massive serious threat on general health besides the financial costs to settle down their patients. Thalassemia is causing anemia with many complications, pluse the effects of blood transfusion on health. Hemoglobins morphology and functionally are controled by one of others which is human beta globin (HBB) gene located on chromosome 11. By polymorphisms or single nucleotide polymorphism (SNP), alteration such as insertion, deletion, or rearrangement of a nucleotide which impact the gene expression. The researchers regard (SNP) as a genetic marker for many diseases. rs34598529 identified among some patients whom suffered of beta (+) thalassemia, also known as codon 29 (A>G), which has been seen more frequently in patients with clinical diagnosis than in populations of healthy people. Therefore, this study conducted by collecting 80 blood samples of β-thalassemic patients whom treated by The Thalassemia & Hereditary Blood Diseases Centre in Thi-Qar/Iraq, plus 50 blood samples of healthy individual. The biological molecules analysis of this study indicate the SNP (rs34598529) genotypes AA/AG significantly affected among beta thalassemic major only, also the alleles A/G significantly rose for beta thalassemia major. Regarding the gender finding there is no significant among β-thalassemia which is not a sex-linked disease and affects both sexes equally. On the other hand, the age can indicate significant affects by beta thalassemia among patients by grown old. Finally, β-thalassemia major and intermedia not associated by variant rs34598529 regarding Hemoglobin concentration therefore, no correlation to the blood transfusion among β-thalassemic patients major nor intermedia.