Myanmar Health Sciences Research Journal
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Aims of MHSR Journal
  • To serve as an important medium for the publication of original research in the field of medical science and health research, thus filling gaps in health knowledge for effective utilization of research findings
  • To impart current medical knowledge and updated scientific information obtained from research to health professionals for better and appropriate health care management
  • To disseminate recent basic, applied and social research findings among health personnel of different strata for enhancing worldwide health development


Archives   2020

Myanmar   Health   Sciences   Research   Journal

Volume   32,  Number   1

TITLE:   Molecular Genotyping of Silent Beta Thalassaemia Carriers among the Healthy Adult Population in Yangon
AUTHOR:   Moh Moh Htun, Yin Min Htun, Than Than Aye, Myat Mon Oo, Than Than Swe, Khin Myo Set, Hnin Nu Htwe, Ohnmar & Hlaing Myat Thu
SOURCE:   Myanmar Health Sciences Research Journal, 2020; 32(1): 7-12
ABSTRACT:  

Beta thalassaemia trait (minor) or heterozygous carrier type has one beta globin gene defect that may be asymptomatic or cause slight anemia. Molecular genetic testing of the gene encoding the hemoglobin subunit beta (HBB) represents advanced method for detection of pre-symptomatic or silent beta thalassaemia carrier in at-risk family members and for prenatal diagnosis. Out of 516 healthy adults (age 16-45 years) living in Yangon, 103 have anemia (Hb <12g%). Twenty-one (4%) of beta thalassaemia carriers were detected by osmotic fragility test (OFT), HbF% and HbA 2% estimations were done by high performance liquid chromatography (HPLC) and emoglobinopathies were observed by iso-electric focusing gel electrophoresis (IEF). HBB gene mutation was detected in 52 adults (10%) by using polymerase chain reaction with single strand conformation polymorphism (PCR-SSCP). The most common HBB gene mutation was CD26G>A (HbE) (66.7%). The other common five genetic mutations were CD35C>A, CD6A>T (HbS), CD71/72+A, CD17A>T and IVSII 654C>T that were diagnosed as silent beta thalassaemia carriers. Molecular screening for HBB mutation is a sensitive test and easy technique to detect silent beta thalassaemia carriers among healthy adult population after testing of essential red blood cells parameters (Hb%, MCV, MCH, RDW) by automatic blood analyzer and morphology of red blood cell by blood film examination. Screening of thalassaemia carriers and providing the proper health education in adult population are part of main strategies for prevention and control of new cases of thalassaemia major in Myanmar.


SUBJECT HEADINGS:   Molecular genotyping, Thalassaemia, Adult population, HBB gene
FULL TEXT:  

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Subject Headings : Molecular genotyping, Thalassaemia, Adult population, HBB gene Full Text : 02Dr. Moh Moh Htun.pdf -->

Vision : Achieving a healthier nation through application of research findings          Mission Statement : To Develop and promote solutions to the major health problems of Myanmar