{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:20:56Z","timestamp":1747149656594,"version":"3.40.5"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Haemoglobin (Hb) G\u2010Makassar is a rare Hb variant. It presents a diagnostic challenge as it imitates sickle Hb (Hb S) in standard electrophoresis and high\u2010performance liquid chromatography assays requiring DNA analysis to confirm diagnosis. Both have point mutations in codon 6, exon 1 in the \u03b2\u2010globin (<jats:italic>HBB<\/jats:italic>) gene with different pathogenicities. This study describes the clinical phenotype, haematology and genotype of Hb G\u2010Makassar. Clinical and laboratory data of 38 cases of Hb G\u2010Makassar over 8 years were analysed. Hb G\u2010Makassar was confirmed by a direct sequencing of <jats:italic>HBB<\/jats:italic> gene and co\u2010inheritance of \u03b1\u2010thalassaemia determined through multiplex gap\u2010PCR and multiplex Amplification Refractory Mutation System polymerase chain reaction. All cases were Malays, predominantly from Terengganu (<jats:italic>n<\/jats:italic>\u00a0=\u00a020, 52.6%). There were 14 (36.8%) males and 24 (63.2%) females with median age of 25 years. Majority (<jats:italic>n<\/jats:italic>\u00a0=\u00a033, 86.8%) had features of thalassaemia trait with mean\u00a0\u00b1\u00a0SD for Hb, mean cell volume (MCV) and mean cell haemoglobin (MCH) as 13.21\u00a0g\/dL\u00a0\u00b1\u00a01.69, 73.06\u00a0\u00b1\u00a04.48\u00a0fL and 24.71\u00a0\u00b1\u00a01.82\u00a0pg, respectively. None had evidence of haemolysis or thromboembolic complications. Six genotypes were identified; \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df,\u03b1\u03b1\/\u03b1\u03b1 (<jats:italic>n<\/jats:italic>\u00a0=\u00a019, 50.0%), \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df<jats:sup>E<\/jats:sup>,\u03b1\u03b1\/\u03b1\u03b1 (<jats:italic>n<\/jats:italic>\u00a0=\u00a04, 10.5%), \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df<jats:sup>NewYork<\/jats:sup>,\u03b1\u03b1\/\u03b1\u03b1 (<jats:italic>n<\/jats:italic>\u00a0=\u00a01, 2.6%), \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df,\u03b1\u03b1\/\u2010\u03b1 (<jats:italic>n<\/jats:italic>\u00a0=\u00a011, 28.9%), \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df,\u03b1\u03b1\/\u03b1<jats:sup>Adana<\/jats:sup>\u03b1 (<jats:italic>n<\/jats:italic>\u00a0=\u00a02, 5.3%) and \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df,\u03b1\u03b1\/\u2013<jats:sup>SEA<\/jats:sup> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01, 2.6%). The \u00df<jats:sup>G\u2010Makassar<\/jats:sup>\/\u00df,\u03b1\u03b1\/\u03b1\u03b1 showed that features of thalassaemia trait with mean\u00a0\u00b1\u00a0SD for Hb, MCV and MCH were 13.74\u00a0g\/dL\u00a0\u00b1\u00a02.40, 76.18\u00a0\u00b1\u00a06.02\u00a0fL and 25.79\u00a0\u00b1\u00a02.41\u00a0pg, respectively. This is the largest study reporting a significant number of Hb G\u2010Makassar in Malaysia. Although the mutation is similar to Hb S, the phenotype is benign.<\/jats:p>","DOI":"10.1002\/jha2.750","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T05:54:50Z","timestamp":1691733290000},"page":"940-948","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and haematological characteristics of 38 individuals with Hb G\u2010Makassar in Malaysia"],"prefix":"10.1002","volume":"4","author":[{"given":"Ezalia","family":"Esa","sequence":"first","affiliation":[{"name":"Institute for Medical Research Setia Alam Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad Sabry","family":"Mohamad","sequence":"additional","affiliation":[{"name":"Medical Engineering Universiti Kuala Lumpur British Malaysian Institute Gombak Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9371-6838","authenticated-orcid":false,"given":"Roszymah","family":"Hamzah","sequence":"additional","affiliation":[{"name":"Hematology Department Ampang Hospital Ampang Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faidatul Syazlin Abdul","family":"Hamid","sequence":"additional","affiliation":[{"name":"Institute for Medical Research Setia Alam Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nur Aisyah","family":"Aziz","sequence":"additional","affiliation":[{"name":"Institute for Medical Research Setia Alam Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veena","family":"Sevaratnam","sequence":"additional","affiliation":[{"name":"Hematology Department Ampang Hospital Ampang Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jameela","family":"Sathar","sequence":"additional","affiliation":[{"name":"Hematology Department Ampang Hospital Ampang Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guo","family":"Chen","sequence":"additional","affiliation":[{"name":"Beam Therapeutics Inc. Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norafiza Mohd","family":"Yasin","sequence":"additional","affiliation":[{"name":"Institute for Medical Research Setia Alam Selangor Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"issue":"3","key":"e_1_2_14_2_1","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/0005-2795(70)90297-7","article-title":"Hemoglobin G Makassar: \u03b26 Glu\u2192 Ala","volume":"214","author":"Blackwell RQ","year":"1970","journal-title":"Biochim Biophys Acta Proteins Proteomics"},{"issue":"5","key":"e_1_2_14_3_1","first-page":"577","article-title":"Hb G Makassar (beta 6: Glu\u2192 ala) in a Thai family","volume":"85","author":"Sangkitporn S","year":"2002","journal-title":"J Med Assoc Thai"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-120015028"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-010-0682-x"},{"key":"e_1_2_14_6_1","first-page":"52","article-title":"The haemoglobin G Makassar (Codon 6 GAG>GCG) cases in Malaysia: molecular identification and characterization","volume":"2","author":"Khor SF","year":"2018","journal-title":"J Biomed Clin Sci"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.4081\/hr.2018.7210"},{"issue":"9","key":"e_1_2_14_8_1","first-page":"1158","article-title":"The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position","volume":"30","author":"Khalil MS","year":"2009","journal-title":"Saudi Med J"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt911"},{"issue":"20","key":"e_1_2_14_10_1","first-page":"3030","article-title":"Revisiting anemia in sickle cell disease and finding the balance with therapeutic approaches","volume":"139","author":"Xu JZ","year":"2022","journal-title":"Blood, The Journal of the American Society of Hematology"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110226"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.1.360"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065701753617471"},{"issue":"6","key":"e_1_2_14_14_1","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2020-037974","article-title":"Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry","volume":"10","author":"Ibrahim HM","year":"2020","journal-title":"BMJ Open"},{"issue":"5","key":"e_1_2_14_15_1","first-page":"523","article-title":"Thalassaemia screening among students in a secondary school in Ampang, Malaysia","volume":"66","author":"Rahimah A","year":"2011","journal-title":"Med J Malaysia"},{"issue":"8","key":"e_1_2_14_16_1","first-page":"704","article-title":"Inherited haemoglobin disorders: an increasing global health problem","volume":"79","author":"Weatherall D","year":"2001","journal-title":"Bull World Health Organ"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2022.2057326"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(93)81130-R"},{"issue":"4","key":"e_1_2_14_19_1","first-page":"431","article-title":"Polymerization and solubility of recombinant hemoglobins alpha 2 beta 2 6 Glu\u2192 Ala (Hb Makassar) and alpha 2 beta 2 6 Glu\u2192 Ala, 23 Val\u2192 Ile","volume":"316","author":"Pagnier J","year":"1993","journal-title":"C R Acad Sci III"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10030482"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2021-150922"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03609-w"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2019-126710"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnut.2022.847693"},{"issue":"1","key":"e_1_2_14_25_1","first-page":"90","article-title":"Pseudopolycythemia, pseudothrombocytopenia, and pseudoleukopenia due to overfilling of blood collection vacuum tubes","volume":"116","author":"Pewarchuk W","year":"1992","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2020.00074"},{"key":"e_1_2_14_27_1","first-page":"113","volume-title":"Prevention of thalassaemias and other haemoglobin disorders","author":"Old J","year":"2005"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.750","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T18:50:07Z","timestamp":1700679007000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.750"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,10]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/jha2.750"],"URL":"https:\/\/doi.org\/10.1002\/jha2.750","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"type":"print","value":"2688-6146"},{"type":"electronic","value":"2688-6146"}],"subject":[],"published":{"date-parts":[[2023,8,10]]},"assertion":[{"value":"2023-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}