Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia

Genetic Testing
K L TanS F Yap

Abstract

Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of ...Continue Reading

Citations

Oct 22, 2003·Molecular Genetics and Metabolism·Urvashi BhardwajEdward R B McCabe
Feb 20, 2004·Hematology·Xiaofeng Gu, Yitao Zeng
Dec 23, 2011·Hemoglobin·Pratika Yuhyi HernandaCornelis L Harteveld
Feb 12, 2008·Prenatal Diagnosis·Hua HuZhiqing Liang
Feb 14, 2007·Clinical Biochemistry·Dollyn Liying QuekSamuel S Chong

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