Evaluation of haemoglobin constant spring phenotypes and their haematological characteristics among high school students in Terengganu, Malaysia: A single - centred study.

IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Saudi Medical Journal Pub Date : 2025-03-01 DOI:10.15537/smj.2025.46.3.20240771
Sharifatul F Embong, Sumaiyah Adzahar, Adibah Daud, Mohammad H Nordin, Sarah A Halim, Wan Zuhairah W Embong, Nabilah Rameli, Razan H Zulkeflee, Rosnah Bahar
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Abstract

Objectives: To assess the prevalence of hemoglobin constant spring (Hb CS) in the Terengganu population, to evaluate the haematological parameters of individuals with heterozygous Hb CS, homozygous Hb CS, and compound heterozygous Hb CS, and to compare the effectiveness of high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) in detecting Hb CS.

Methods: This study employed a cross-sectional design involving Form 4 secondary school students from Terengganu. Hemoglobin variants were analyzed using CE (CAPILLARYS2 Flex-Piercing System) and HPLC (VARIANT II). Molecular testing, including multiplex polymerase chain reaction (PCR) and amplification refractory mutation system-PCR techniques, was carried out to detect alpha thalassemia mutations.

Results: The prevalence of Hb CS revealed 92.2% heterozygous (mean zone 2 CE peak value of 0.7%), 7.2% compound heterozygous (mean zone 2 CE peak value of 1.2%), and 0.5% homozygous cases (mean zone 2 CE peak value of 4.5%).

Conclusion: The study highlights a significant prevalence of Hb CS among the Terengganu population, with heterozygous cases being the most common. The peak values in zone 2 CE varied significantly among the heterozygous, compound heterozygous, and homozygous HbCS cases, indicating the potential utility of these measurements in distinguishing between different clinical phenotypes.

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评估血红蛋白恒定春季表型和他们的血液学特征在登嘉楼高中学生,马来西亚:一项单中心研究。
目的:了解丁加奴人群血红蛋白常春(Hb CS)患病率,评价杂合型、纯合型和复合杂合型血红蛋白常春个体的血液学参数,比较高效液相色谱(HPLC)和毛细管电泳(CE)检测Hb CS的有效性。方法:本研究采用横断面设计,研究对象为丁加奴中四中学生。采用CE (CAPILLARYS2 flex -穿刺系统)和HPLC (VARIANT II)分析血红蛋白变异。采用多重聚合酶链反应(PCR)和扩增难解突变系统-PCR技术进行分子检测,检测α -地中海贫血突变。结果:Hb CS患病率为杂合子92.2%(平均2区CE峰值为0.7%),复合杂合子7.2%(平均2区CE峰值为1.2%),纯合子0.5%(平均2区CE峰值为4.5%)。结论:该研究强调了丁加奴人群中Hb CS的显著患病率,杂合子病例最为常见。在杂合子、复合杂合子和纯合子HbCS病例中,2区CE的峰值差异显著,表明这些测量在区分不同临床表型方面的潜在效用。
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来源期刊
Saudi Medical Journal
Saudi Medical Journal 医学-医学:内科
CiteScore
2.30
自引率
6.20%
发文量
203
审稿时长
12 months
期刊介绍: The Saudi Medical Journal is a monthly peer-reviewed medical journal. It is an open access journal, with content released under a Creative Commons attribution-noncommercial license. The journal publishes original research articles, review articles, Systematic Reviews, Case Reports, Brief Communication, Brief Report, Clinical Note, Clinical Image, Editorials, Book Reviews, Correspondence, and Student Corner.
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