Numerous studies are being carried out on polymorphisms within the genes coding for factors VIII and IX due to their clinical relevance in the context of hereditary disorders. The quests for polymorphism can be used t...Numerous studies are being carried out on polymorphisms within the genes coding for factors VIII and IX due to their clinical relevance in the context of hereditary disorders. The quests for polymorphism can be used to screen for haemophilia through an affected family. In Cameroon, very few studies on factors VIII and IX gene polymorphisms have been conducted. Thus, this study was aimed at detecting HindIII SNP of the F8 gene and MseI SNP of the F9 gene by the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RLFP) method and determining their involvement in the severity and complications of haemophilia. Fifty-five consented haemophilia patients from the Centre Hospitalier et Universitaire de Yaoundé (CHUY) were recruited for this study on a convenience sampling basis. Finger-prick blood was collected and spotted on filter papers from which DNA was extracted and then subjected to the PCR-RFLP. We were able to recruit 55 (37.16%) patients out of the 148 haemophilia patients registered at the CHUY until December 2018. The average age was 15 years. Of the 55 haemophilia patients, 42 (76.36%) had type A haemophilia and 13 (23.64%) had type B haemophilia, 41 patients (74.55%) had a severe form, 10 (18.18%) had a moderate form and 4 (7.27%) a mild form). Of the 55 patients recruited, 38 (69.09%) already had an osteoarticular complication and the remaining 17 (30.91%) had no complication. Fifty-three (96.36%) participants had HindIII SNP and a significant association was found with the severity of hemophilia (P = 0.00). No association (P = 0.56) was found with osteoarticular complications of haemophilia. On the other hand, 15 (27.27%) participants were diagnosed with MseI SNPs and no association was found with the severity (P = 0.89) or complications (P = 0.68) of haemophilia.展开更多
文摘Numerous studies are being carried out on polymorphisms within the genes coding for factors VIII and IX due to their clinical relevance in the context of hereditary disorders. The quests for polymorphism can be used to screen for haemophilia through an affected family. In Cameroon, very few studies on factors VIII and IX gene polymorphisms have been conducted. Thus, this study was aimed at detecting HindIII SNP of the F8 gene and MseI SNP of the F9 gene by the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RLFP) method and determining their involvement in the severity and complications of haemophilia. Fifty-five consented haemophilia patients from the Centre Hospitalier et Universitaire de Yaoundé (CHUY) were recruited for this study on a convenience sampling basis. Finger-prick blood was collected and spotted on filter papers from which DNA was extracted and then subjected to the PCR-RFLP. We were able to recruit 55 (37.16%) patients out of the 148 haemophilia patients registered at the CHUY until December 2018. The average age was 15 years. Of the 55 haemophilia patients, 42 (76.36%) had type A haemophilia and 13 (23.64%) had type B haemophilia, 41 patients (74.55%) had a severe form, 10 (18.18%) had a moderate form and 4 (7.27%) a mild form). Of the 55 patients recruited, 38 (69.09%) already had an osteoarticular complication and the remaining 17 (30.91%) had no complication. Fifty-three (96.36%) participants had HindIII SNP and a significant association was found with the severity of hemophilia (P = 0.00). No association (P = 0.56) was found with osteoarticular complications of haemophilia. On the other hand, 15 (27.27%) participants were diagnosed with MseI SNPs and no association was found with the severity (P = 0.89) or complications (P = 0.68) of haemophilia.
