Detection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification

Journal of Clinical Pathology
C C SoL C Chan

Abstract

Deletions in the beta-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. To use a recently available technique to investigate the frequencies and nature of beta-globin cluster deletions in Chinese. 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the beta-globin cluster were studied. A commercially available kit employing multiplex ligation-dependent probe amplification (MLPA) was used to screen for deletions. Gap PCR and direct nucleotide sequencing were used to characterise deletions detected. 17 deletions in the beta-globin cluster were found in 17 patients: 8 of Chinese ((A)gammadeltabeta)(0) thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai ((A)gammadeltabeta)(0) thalassaemia. The only type of deletion detected in deltabeta-thalassaemia was Chinese ((A)gammadeltabeta)(0) thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai ((A)gammadeltabeta)(0) thalassaemia. Deletions presenting as beta-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with clas...Continue Reading

Citations

Dec 4, 2013·Critical Reviews in Clinical Laboratory Sciences·Ho-Wan Ip, Chi-Chiu So
Apr 5, 2019·International Journal of Laboratory Hematology·Fei ZhuXuan Shang
Mar 18, 2011·European Journal of Haematology·Yasser WaliRajagopal Krishnamoorthy
Sep 17, 2011·Human Mutation·Marion PhylipsenCornelis L Harteveld
Jul 17, 2015·International Journal of Laboratory Hematology·W-J CaiD-Z Li
Dec 25, 2016·The Journal of Biological Chemistry·Emmanuel BisséJohn S Olson
May 22, 2019·Protein & Cell·Yan HuangJunjiu Huang

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