Nadir Ali1, Muhammad Ayyub2, Saleem Ahmed Khan3, Suhaib Ahmed4, Kazim Abbas5, Hamid Saeed Malik6, Sunila Tashfeen7. 1. Dept of Hematology, Institute of Pathology Rawalpindi, Pakistan. Electronic address: dr.nadir.ali@gmail.com. 2. Institute of Pathology, Rawalpindi, Pakistan. Electronic address: drayyub57@yahoo.com. 3. Dept of Hematology, Institute of Pathology Rawalpindi, Pakistan. Electronic address: Saleem003@hotmail.com. 4. Islamic International Medical College and Genetic Resource Center, Rawalpindi, Pakistan. Electronic address: suhaib955@hotmail.com. 5. Dept of Hematology, Institute of Pathology Rawalpindi, Pakistan. Electronic address: kakazmi@gmail.com. 6. Dept of Hematology, Institute of Pathology Rawalpindi, Pakistan. Electronic address: hamidsaeed_malik@yahoo.com. 7. Dept of Hematology, Institute of Pathology Rawalpindi, Pakistan. Electronic address: sunila.tashfeen@yahoo.com.
Abstract
BACKGROUND: Response to hydroxyurea therapy in homozygous or compound heterozygous beta thalassaemia (BT) has been reported as more favourable in the presence of XmnI polymorphism. The prevalence of XmnI polymorphism may vary with BT phenotypes and genotypes, and differs geographically in distribution. Prevalence of XmnI polymorphism is not known in northern Pakistan. OBJECTIVE: To determine the frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism (XmnI polymorphism) in patients with homozygous or compound heterozygous beta thalassaemia. MATERIALS: Polymerase chain reaction (PCR) for common beta thalassaemia mutations and Gγ-globin promoter -158 (C>T) XmnI polymorphism was performed on 107 blood samples of transfusion dependent beta thalassaemia (BT) patients in Pakistan. One hundred samples of unrelated BT traits and 94 samples of healthy subjects as controls were also analysed for BT mutations and XmnI polymorphism. RESULTS: Out of 301 DNA samples, XmnI polymorphism was detected in 71(24%); in normal controls, XmnI polymorphism was detected in 34/94 (36%) subjects; while in homozygous/compound heterozygous BT, it was detected in 14/107(13%) patients (Fisher's exact test, p=.0002). In heterozygous BT group, XmnI polymorphism was detected in 23/100 subjects (Fisher's exact test, p=.03 with normal controls, and p=.049 with homozygous/compound heterozygous BT). The most common BT genotype was Frame Shift (Fr) 8-9/Fr 8-9, and none of the patients with this genotype had XmnI polymorphism. The second most common genotype was IVSI-5/IVSI-5; 4/26 (15%). Cases with this genotype had XmnI polymorphism. CONCLUSION: XmnI polymorphism in homozygous/compound heterozygous BT group is 13%. The most common genotype associated with XmnI polymorphism was IVSI-5/IVSI-5.
BACKGROUND: Response to hydroxyurea therapy in homozygous or compound heterozygous beta thalassaemia (BT) has been reported as more favourable in the presence of XmnI polymorphism. The prevalence of XmnI polymorphism may vary with BT phenotypes and genotypes, and differs geographically in distribution. Prevalence of XmnI polymorphism is not known in northern Pakistan. OBJECTIVE: To determine the frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism (XmnI polymorphism) in patients with homozygous or compound heterozygous beta thalassaemia. MATERIALS: Polymerase chain reaction (PCR) for common beta thalassaemia mutations and Gγ-globin promoter -158 (C>T) XmnI polymorphism was performed on 107 blood samples of transfusion dependent beta thalassaemia (BT) patients in Pakistan. One hundred samples of unrelated BT traits and 94 samples of healthy subjects as controls were also analysed for BT mutations and XmnI polymorphism. RESULTS: Out of 301 DNA samples, XmnI polymorphism was detected in 71(24%); in normal controls, XmnI polymorphism was detected in 34/94 (36%) subjects; while in homozygous/compound heterozygous BT, it was detected in 14/107(13%) patients (Fisher's exact test, p=.0002). In heterozygous BT group, XmnI polymorphism was detected in 23/100 subjects (Fisher's exact test, p=.03 with normal controls, and p=.049 with homozygous/compound heterozygous BT). The most common BT genotype was Frame Shift (Fr) 8-9/Fr 8-9, and none of the patients with this genotype had XmnI polymorphism. The second most common genotype was IVSI-5/IVSI-5; 4/26 (15%). Cases with this genotype had XmnI polymorphism. CONCLUSION: XmnI polymorphism in homozygous/compound heterozygous BT group is 13%. The most common genotype associated with XmnI polymorphism was IVSI-5/IVSI-5.
Authors: Firooz Esmaeilzadeh; Azita Azarkeivan; Sara Emamgholipour; Ali Akbari Sari; Mehdi Yaseri; Batoul Ahmadi; Mohtasham Ghaffari Journal: J Res Health Sci Date: 2016
Authors: Abozer Y Elderdery; Abdullah Alsrhani; Badr Alzahrani; Muhammad Atif; Ahmed I Refaiy; Hussain Shiwani; Amin Abbas; Dawelbiet A Yahia Journal: Evid Based Complement Alternat Med Date: 2022-03-21 Impact factor: 2.629