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• W2147363460 abstract "<h3>Background:</h3> Deletions in the β-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. <h3>Aims:</h3> To use a recently available technique to investigate the frequencies and nature of β-globin cluster deletions in Chinese. <h3>Methods:</h3> 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the β-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. <h3>Results:</h3> 17 deletions in the β-globin cluster were found in 17 patients: 8 of Chinese (^Aγδβ)⁰ thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (^Aγδβ)⁰ thalassaemia. The only type of deletion detected in δβ-thalassaemia was Chinese (^Aγδβ)⁰ thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (^Aγδβ)⁰ thalassaemia. Deletions presenting as β-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical β-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable. <h3>Conclusions:</h3> In the Chinese population, there are only relatively few types of deletions seen in the β-globin cluster. MLPA is a fast and effective way of screening for these deletions. Characterisation of these deletions allows the development of simpler and more specific PCR-based tests for routine diagnostic use. Accurate prediction of phenotype is not always feasible. The molecular defects in many cases of HPFH still await discovery." @default.
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• W2147363460 date "2009-11-27" @default.
• W2147363460 modified "2023-10-01" @default.
• W2147363460 title "Detection and characterisation of -globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification" @default.
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• W2147363460 doi "https://doi.org/10.1136/jcp.2009.067538" @default.
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