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马来西亚登嘉楼高中生血红蛋白恒河猴弹簧表型及其血液学特征的评估:一项单中心研究。

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

作者信息

Embong Sharifatul F, Adzahar Sumaiyah, Daud Adibah, Nordin Mohammad H, Halim Sarah A, Embong Wan Zuhairah W, Rameli Nabilah, Zulkeflee Razan H, Bahar Rosnah

机构信息

From the Department of Pathology and Medical Laboratory (F. Embong, Adzahar, Daud), Faculty of Medicine, Sultan Zainal Abidin University, from the Department of Pathology (W. Embong), Sultanah Nur Zahirah Hospital, from the Department of Pathology (Rameli), Dungun Hospital, Terengganu, from the Department of Pathology and Laboratory Medicine (Halim), College of Medicine, International Islamic University Malaysia, Pahang, and from the Department of Haematology (Zulkeflee, Bahar), School of Medical Sciences, University of Science Malaysia, Kelantan, Malaysia.

出版信息

Saudi Med J. 2025 Mar;46(3):292-298. doi: 10.15537/smj.2025.46.3.20240771.

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.

摘要

目的

评估登嘉楼人群中血红蛋白恒河猴(Hb CS)的患病率,评估杂合子Hb CS、纯合子Hb CS和复合杂合子Hb CS个体的血液学参数,并比较高效液相色谱法(HPLC)和毛细管电泳法(CE)检测Hb CS的有效性。

方法

本研究采用横断面设计,纳入了登嘉楼的中学四年级学生。使用CE(CAPILLARYS2 Flex-Piercing系统)和HPLC(VARIANT II)分析血红蛋白变异体。进行分子检测,包括多重聚合酶链反应(PCR)和扩增阻滞突变系统-PCR技术,以检测α地中海贫血突变。

结果

Hb CS的患病率显示,杂合子为92.2%(CE 2区平均峰值为0.7%)、复合杂合子为7.2%(CE 2区平均峰值为1.2%)、纯合子为0.5%(CE 2区平均峰值为4.5%)。

结论

该研究突出了登嘉楼人群中Hb CS的显著患病率,其中杂合子病例最为常见。杂合子、复合杂合子和纯合子Hb CS病例在CE 2区的峰值差异显著,表明这些测量值在区分不同临床表型方面具有潜在用途。

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