INTRODUCTION: To study the ß-gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co-inherited factors such as α-gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients. METHODS: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE-β Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)-PCR. RESULTS: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for β TM, thalassemia intermedia, and HbE/β thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/-] required less frequent transfusion compared with those without the polymorphism. Co-inheritance of α-thalassemia alleviates the severity of HbE-β thalassemia in our cohort. CONCLUSION: Molecular analysis should be used for a better diagnosis and management of β thalassemia.
INTRODUCTION: To study the ß-gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co-inherited factors such as α-gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients. METHODS: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE-β Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)-PCR. RESULTS: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for β TM, thalassemia intermedia, and HbE/β thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/-] required less frequent transfusion compared with those without the polymorphism. Co-inheritance of α-thalassemia alleviates the severity of HbE-β thalassemia in our cohort. CONCLUSION: Molecular analysis should be used for a better diagnosis and management of β thalassemia.
Authors: Lai Kuan Teh; Elizabeth George; Mei I Lai; Jin Ai Mary Anne Tan; Lily Wong; Patimah Ismail Journal: J Hum Genet Date: 2013-12-26 Impact factor: 3.172
Authors: Siti Nur Nabeela A'ifah Mohammad; Salfarina Iberahim; Wan Suriana Wan Ab Rahman; Mohd Nazri Hassan; Hisham Atan Edinur; Maryam Azlan; Zefarina Zulkafli Journal: Diagnostics (Basel) Date: 2022-06-02
Authors: Nur Atikah Zakaria; Md Asiful Islam; Wan Zaidah Abdullah; Rosnah Bahar; Abdul Aziz Mohamed Yusoff; Ridhwan Abdul Wahab; Shaharum Shamsuddin; Muhammad Farid Johan Journal: Biomolecules Date: 2021-05-18