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Background <p>β-Thalassemia is a serious genetic disorder with an extensive range of clinical phenotypes ranging from asymptomatic to symptomatic disease depending on times of blood transfusions, this genetic disorder is highly distributed globally and regionally so the ability to predict the severity of the disease is crucial for management and treatment, the severity of thalassemia is variable from mild, moderate to severe according to many factors one of them is the different ethnicity which may have different allele frequency and linkage disequilibrium structures. This study is the first study in Iraq that collect the two different single nucleotide polymorphisms (SNPs) rs766432 and rs9399137 in two different genes BCL11A and HBS1L-MYB to show their effect on thalassemia.</p> Methods <p>200 individuals were enrolled in this study to show the effect of two different SNPs rs766432 and rs9399137 in two different genes BCL11A and HBS1L-MYB respectively on the severity of β-Thalassemia in patient comparing with healthy individuals, also to determine their effect on the levels of haemoglobin.</p> Results <p>This study show a significant results for rs9399137 in HBS1L-MYB gene with 1.82 fold, a significant results in rs766432 in BCL11A gene with 1.92 fold when compared between patient and control, also there is a significant results for rs9399137 in HBS1L-MYB gene with 2.10, 1.7 fold, a significant results in rs766432 in BCL11A gene with 2.15, 2.10 fold when compared between male and female, there is a significant results for rs9399137 in HBS1L-MYB gene with 2.55, 1.87 fold, a significant results in rs766432 in BCL11A gene with 2.65, 1.62 fold according to age, finally, there is there is a significant results for rs9399137 in HBS1L-MYB gene with 1.52, 1.28 fold, a significant results in rs766432 in BCL11A gene with 1.7, 1.34, fold according to the level of hemoglobin (HB).</p> Conclusions <p>BCL11A Gene (rs766432) and HBS1L-MYB Gene (rs9399137) polymorphisms were strongly associated with the development of thalassemia in Iraqi population.</p>

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The effect of BCL11A gene (rs766432) and HBS1L-MYB gene (rs9399137) polymorphism on beta thalassemia in Iraqi patients

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  • 发表日期：

    2025年12月30日

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  • Laith Ali Younus,
  • Haider Farhan Salman,
  • Khalid Hassan Abdulrudha,
  • Fadhil Abass Nasser,
  • Ahmed Hassan Khudair

摘要

Background

β-Thalassemia is a serious genetic disorder with an extensive range of clinical phenotypes ranging from asymptomatic to symptomatic disease depending on times of blood transfusions, this genetic disorder is highly distributed globally and regionally so the ability to predict the severity of the disease is crucial for management and treatment, the severity of thalassemia is variable from mild, moderate to severe according to many factors one of them is the different ethnicity which may have different allele frequency and linkage disequilibrium structures. This study is the first study in Iraq that collect the two different single nucleotide polymorphisms (SNPs) rs766432 and rs9399137 in two different genes BCL11A and HBS1L-MYB to show their effect on thalassemia.

Methods

200 individuals were enrolled in this study to show the effect of two different SNPs rs766432 and rs9399137 in two different genes BCL11A and HBS1L-MYB respectively on the severity of β-Thalassemia in patient comparing with healthy individuals, also to determine their effect on the levels of haemoglobin.

Results

This study show a significant results for rs9399137 in HBS1L-MYB gene with 1.82 fold, a significant results in rs766432 in BCL11A gene with 1.92 fold when compared between patient and control, also there is a significant results for rs9399137 in HBS1L-MYB gene with 2.10, 1.7 fold, a significant results in rs766432 in BCL11A gene with 2.15, 2.10 fold when compared between male and female, there is a significant results for rs9399137 in HBS1L-MYB gene with 2.55, 1.87 fold, a significant results in rs766432 in BCL11A gene with 2.65, 1.62 fold according to age, finally, there is there is a significant results for rs9399137 in HBS1L-MYB gene with 1.52, 1.28 fold, a significant results in rs766432 in BCL11A gene with 1.7, 1.34, fold according to the level of hemoglobin (HB).

Conclusions

BCL11A Gene (rs766432) and HBS1L-MYB Gene (rs9399137) polymorphisms were strongly associated with the development of thalassemia in Iraqi population.