{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:54:28Z","timestamp":1764996868709,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Deletions in the \u03b2-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aims:<\/jats:title>\n                  <jats:p>To use a recently available technique to investigate the frequencies and nature of \u03b2-globin cluster deletions in Chinese.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the \u03b2-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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>17 deletions in the \u03b2-globin cluster were found in 17 patients: 8 of Chinese (<jats:sup>A<\/jats:sup>\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup> thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (<jats:sup>A<\/jats:sup>\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup> thalassaemia. The only type of deletion detected in \u03b4\u03b2-thalassaemia was Chinese (<jats:sup>A<\/jats:sup>\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup> thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (<jats:sup>A<\/jats:sup>\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup> thalassaemia. Deletions presenting as \u03b2-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical \u03b2-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>In the Chinese population, there are only relatively few types of deletions seen in the \u03b2-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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jcp.2009.067538","type":"journal-article","created":{"date-parts":[[2009,11,27]],"date-time":"2009-11-27T23:11:48Z","timestamp":1259363508000},"page":"1107-1111","source":"Crossref","is-referenced-by-count":30,"title":["Detection and characterisation of \u03b2-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification"],"prefix":"10.1136","volume":"62","author":[{"given":"C C","family":"So","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C Y","family":"So","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A Y Y","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S T Y","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E S K","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L C","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2009,11,27]]},"reference":[{"key":"2025092612011783000_62.12.1107.1","unstructured":"HbVar. 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