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Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia
Author(s) -
SIVALINGAM M.,
LOOI M. L.,
ZAKARIA S. Z. S.,
HAMIDAH N. H.,
ALIAS H.,
LATIFF Z. A.,
IBRAHIM H.,
JAMAL R.
Publication year - 2012
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2012.01405.x
Subject(s) - genotype , thalassemia , genetics , alpha thalassemia , restriction fragment length polymorphism , loss of heterozygosity , medicine , gene mutation , biology , gastroenterology , mutation , gene , allele
Summary 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.