{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T19:52:48Z","timestamp":1781639568875,"version":"3.54.5"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Institute for Medical Research, Malaysia"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"abstract":"Abstract<\/jats:title>\n \n This study assesses haematological parameters as screening tools for identifying \u03b1 zero (\u03b1\u2070) thalassaemia candidates for DNA analysis. The Malaysia Thalassaemia Diagnosis Code (MTDC) uses mean corpuscular haemoglobin (MCH)\u2009<\u200925 pg to screen for suspected \u03b1\u2070 thalassaemia carriers.\u00a0Six haematological parameters from 304 cases genotyped by Gap-Polymerase Chain Reaction or Multiplex Ligation-dependent Probe Amplification were analyzed.\u00a0Among the cases, 160 individuals (52.6%) were \u03b1\n +<\/jats:sup>\n thalassaemia silent carrier (-\u03b1\/\u03b1\u03b1), comprising heterozygotes for -\u03b1\n 3.7<\/jats:sup>\n , -\u03b1\n 4.2<\/jats:sup>\n , \u2013(\u03b1)\n 20.5<\/jats:sup>\n and -\u03b1\n 2.4<\/jats:sup>\n . Twelve individuals (3.9%) were \u03b1\n +<\/jats:sup>\n thalassaemia carrier (-\u03b1\/-\u03b1), including homozygous -\u03b1\n 3.7<\/jats:sup>\n and compound heterozygous -\u03b1\n 3.7<\/jats:sup>\n and -\u03b1\n 4.2<\/jats:sup>\n . Meanwhile, 111 individuals (36.4%) were \u03b1\n 0<\/jats:sup>\n thalassaemia carrier (--\/\u03b1\u03b1) consisting of heterozygotes for --\n SEA<\/jats:sup>\n , --\n GB<\/jats:sup>\n , --\n FIL<\/jats:sup>\n , --\n AW<\/jats:sup>\n , and \u2013\n THAI<\/jats:sup>\n deletions. Deletional Hb H disease (--\/-\u03b1) was observed in individuals with compound genotypes such as -\u03b1\n 3.7<\/jats:sup>\n \/--\n SEA<\/jats:sup>\n , -\u03b1\n 3.7<\/jats:sup>\n \/--\n GB<\/jats:sup>\n , -\u03b1\n 3.7<\/jats:sup>\n \/--\n AW<\/jats:sup>\n , -\u03b1\n 4.2<\/jats:sup>\n \/--\n SEA<\/jats:sup>\n and -\u03b1\n 2.4<\/jats:sup>\n \/--\n SEA<\/jats:sup>\n . All parameters correlated with the number of \u03b1-globin gene deletions, with mean corpuscular volume (MCV) (r\n 2<\/jats:sup>\n \u2009=\u20090.73) and MCH (r\n 2<\/jats:sup>\n \u2009=\u20090.77) showing the strongest associations. Gender-specific MCH cut-offs of <\u200922.65 pg for males and <\u200922.25 pg for females demonstrated excellent diagnostic performance, with higher sensitivity and specificity in females (90.3% and 93.9%) than in males (89.5% and 88.9%).\u00a0The findings indicate that the currently used MCH cut-off of 25 pg may be higher than optimal for identifying \u03b1\u2070 thalassaemia carriers. A lower MCH threshold improves detection performance and may support refinement of the MTDC screening criteria to better prioritize high-risk individuals while reducing unnecessary DNA testing among \u03b1\u207a thalassaemia cases.\n <\/jats:p>","DOI":"10.1007\/s00277-026-06868-7","type":"journal-article","created":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T02:22:40Z","timestamp":1772245360000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Determination of mean corpuscular haemoglobin cut-off point for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening"],"prefix":"10.1007","volume":"105","author":[{"given":"Ezalia","family":"Esa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lailatul Hadziyah","family":"Mohd Pauzy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hafizah","family":"Hashim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azian Naila","family":"Md Nor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ermi Neiza","family":"Mohd Sahid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuslina","family":"Mat Yusoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nur Aisyah","family":"Aziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faidatul Syazlin","family":"Abdul Hamid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syahzuwan","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wahyuni Sofia Foo","family":"Mohammad Salleh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezzanie Suffya","family":"Zulkefli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norafiza","family":"Mohd Yasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,28]]},"reference":[{"issue":"12","key":"6868_CR1","doi-asserted-by":"publisher","first-page":"2707","DOI":"10.3390\/ijms18122707","volume":"18","author":"D Velasco-Rodr\u00edguez","year":"2017","unstructured":"Velasco-Rodr\u00edguez D, Blas C, Alonso-Dom\u00ednguez JM et al (2017) Cut-off values of hematologic parameters to predict the number of alpha genes deleted in subjects with deletional alpha thalassaemia. 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No general institutional waiver was used, and all samples were handled according to ethical guidelines for human research.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics of approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study involved the retrospective analysis of laboratory data from patients who had provided individual informed consent for the use of their results and DNA samples in research.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Patient consent"}}],"article-number":"146"}}