{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:19:37Z","timestamp":1792757977181,"version":"4.5.0"},"reference-count":32,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2004,5]]},"abstract":"<jats:p>\n                    <jats:bold>Aim:<\/jats:bold>\n                    Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    In total, 13 397 consecutive samples from five geographical areas of Guangdong Province were analysed for both haematological and molecular parameters.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    There was a high prevalence of carriers of \u03b1 thalassaemia (8.53%), \u03b2 thalassaemia (2.54%), and both \u03b1 and \u03b2 thalassaemia (0.26%). Overall, 11.07% of the population in this area were heterozygous carriers of \u03b1 and \u03b2 thalassaemia. The mutation spectrum of \u03b1 and \u03b2 thalassaemia and its constitution were fully described in this area. This study reports the true prevalence of silent \u03b1 thalassaemia in the southern China population for the first time. In addition, two novel mutations that give rise to \u03b1 thalassaemia, one deletion resulting in \u03b2 thalassaemia, and a rare deletion (\u2212\u2212\n                    <jats:sup>THAI<\/jats:sup>\n                    allele) previously unreported in mainland China were detected. The frequency of the most common mutation, the Southeast Asian type of deletion (\u2212\u2212\n                    <jats:sup>SEA<\/jats:sup>\n                    , accounting for 48.54% of all \u03b1 thalassaemias) was similar to the total of two \u03b1\n                    <jats:sup>+<\/jats:sup>\n                    thalassaemia deletions (\u2212\u03b1\n                    <jats:sup>3.7<\/jats:sup>\n                    and \u2212\u03b1\n                    <jats:sup>4.2<\/jats:sup>\n                    , accounting for 47.49% of \u03b1 thalassaemia).\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    Both \u03b1 and \u03b2 thalassaemia are widely distributed in Guangdong Province of China. The knowledge gained in this study will enable the projected number of pregnancies at risk to be estimated and a screening strategy for control of thalassaemia to be designed in this area.\n                  <\/jats:p>","DOI":"10.1136\/jcp.2003.014456","type":"journal-article","created":{"date-parts":[[2004,4,27]],"date-time":"2004-04-27T13:33:02Z","timestamp":1083072782000},"page":"517-522","source":"Crossref","is-referenced-by-count":288,"title":["The prevalence and spectrum of \u03b1 and \u03b2 thalassaemia in Guangdong Province: implications for the future health burden and population screening"],"prefix":"10.1136","volume":"57","author":[{"given":"X M","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y Q","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G X","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P Y","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S Q","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G F","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H P","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y Y","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y X","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q H","family":"Mo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W D","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y Y","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L W","family":"Zhuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z Q","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y J","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C H","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2004,4,27]]},"reference":[{"key":"2025121219195534000_57.5.517.1","doi-asserted-by":"publisher","DOI":"10.1038\/35066048"},{"key":"2025121219195534000_57.5.517.2","unstructured":"Forget BG. 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