What question did this study set out to answer?

Characterize clinical, hematological, biochemical, and molecular profiles of β-thalassemia major in Al-Diwaniyah, Iraq.

August 2, 2026GenesOpen Access

Beta-Globin (HBB) Mutations and Catalase Gene Polymorphisms in Beta-Thalassemia Major Patients in Al-Diwaniyah, Iraq

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Authors

HFHuda Ahmed FairoozUniversity of Sfax RARania AbdelhédiUniversity of Sfax SKSarab Hussain KhalilUniversity of Baghdad

Discussion

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Implication

Retrospective case-control study examines HBB mutations and CAT polymorphisms in beta-thalassemia major, suggesting genetic risk factors in a local population.

Key Points

Characterize clinical, hematological, biochemical, and molecular profiles of β-thalassemia major in Al-Diwaniyah, Iraq.
Retrospective case-control study involving 100 transfusion-dependent patients and 50 healthy controls.
Assessment of HBB mutations and CAT polymorphisms alongside clinical and biochemical markers.
Genotyping for specific mutations such as IVSI-1, IVSI-6, and CD39, and CAT polymorphisms rs1001179 and rs7943316.
69% of patients carried at least one HBB mutation, with IVSI-1 at 29% and IVSI-6 at 25.5%.
Patients had significantly lower RBC, HGB, HCT, HDL, LDL, and CAT levels compared to controls (p < 0.001).
CAT polymorphism rs1001179 associated with increased disease risk (p = 0.019), while rs7943316 was not.

Cite This Study

Fairooz et al. (2026) studied this question.

synapsesocial.com/papers/6a6eeb201b0468a7eeab40fe https://doi.org/10.3390/genes17080906

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August 2, 2026GenesOpen Access

Beta-Globin (HBB) Mutations and Catalase Gene Polymorphisms in Beta-Thalassemia Major Patients in Al-Diwaniyah, Iraq

View Full Paper

Ask AI

Bookmark

Authors

HFHuda Ahmed FairoozUniversity of Sfax RARania AbdelhédiUniversity of Sfax SKSarab Hussain KhalilUniversity of Baghdad

Discussion

Member takes

Implication

Retrospective case-control study examines HBB mutations and CAT polymorphisms in beta-thalassemia major, suggesting genetic risk factors in a local population.

Key Points

Characterize clinical, hematological, biochemical, and molecular profiles of β-thalassemia major in Al-Diwaniyah, Iraq.
Retrospective case-control study involving 100 transfusion-dependent patients and 50 healthy controls.
Assessment of HBB mutations and CAT polymorphisms alongside clinical and biochemical markers.
Genotyping for specific mutations such as IVSI-1, IVSI-6, and CD39, and CAT polymorphisms rs1001179 and rs7943316.
69% of patients carried at least one HBB mutation, with IVSI-1 at 29% and IVSI-6 at 25.5%.
Patients had significantly lower RBC, HGB, HCT, HDL, LDL, and CAT levels compared to controls (p < 0.001).
CAT polymorphism rs1001179 associated with increased disease risk (p = 0.019), while rs7943316 was not.

Cite This Study

Fairooz et al. (2026) studied this question.

synapsesocial.com/papers/6a6eeb201b0468a7eeab40fe https://doi.org/10.3390/genes17080906

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