Allelic Diversity of the Hemochromatosis Gene (HFE) in Malays, Chinese and Indians

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Published: Jul 31, 2021
Keywords:
Hereditary hemochromatosis, H63D, S65C, C282Y, Polymorphism, Malays, Chinese, Indians

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Che Ghazali Norul Hajar
School of Health Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia
Suhaida Md Akhir
School of Health Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia
Zulkafli Zefarina
Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia
Nor Suhaila Md. Riffin
Hospital Sultan Haji Ahmad Shah, 28000 Temerloh, Pahang, Malaysia
Tuan Hulwani Tuan Mohammad
Hospital Seberang Jaya, Perai, 13700 Permatang Pauh, Pulau Pinang, Malaysia
Sabreena Safuan
School of Health Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia
Mohd Nazri Hassan
Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia
Mohd Yusmaidie Aziz
Integrative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Pulau Pinang, Malaysia
Siddhartha Pati
Centre of Excellence, Khallikote University, Berhampur, Ganjam, 761008, Odisha, India
Geoffrey Keith Chambers
School of Biological Sciences, Victoria University of Wellington, Wellington, 6012 New Zealand
Hisham Atan Edinur
School of Health Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia

Abstract

Introduction: Hereditary hemochromatosis (HH) is an autosomal recessive disorder that causes accumulation of iron in circulating blood and organs. The disease is associated with H63D, S65C and C282Y variants of the haemochromatosis (HFE) gene and, if not treated can cause organ damage and may prove fatal. The main objectives of the present survey were to screen these genetic variants and establish risk profiles for developing HH in Malays, Chinese and Indians. Methods: A total of two hundred and twenty-two unrelated and healthy individuals together representing Malay, Chinese and Indian ethnicities in Malaysia were scored for the H63D, S65C and C282Y variants using a polymerase chain reaction-restriction fragment length polymorphism technique. Results: There are clear differences in H63D, S65C and C282Y allele and genotype frequency distributions between Malays, Chinese and Indians. In particular, H63D is more common in Chinese (5.19%) and Indians (7.29%), while S65C is more common in Malays (1.03%) and Chinese (1.04%). In addition, a susceptibility genotype for HH (the compound heterozygote for C282Y and H63D) was only detected in Indians (0.02%). Conclusion: Overall, our study is the first to provide data on the prevalence of H63D, S65C, and C282Y genetic variants and HH risk profiles for Malays, Chinese and Indians.

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How to Cite
Norul Hajar, C. G., Md Akhir, S., Zefarina, Z., Md. Riffin, N. S., Tuan Mohammad, T. H., Safuan, S., Hassan, M. N., Aziz, M. Y., Pati, S., Chambers, G. K., & Edinur, H. A. (2021). Allelic Diversity of the Hemochromatosis Gene (HFE) in Malays, Chinese and Indians. Malaysian Journal of Medicine and Health Sciences, 17(3), 49–54. Retrieved from http://mjmhsojs.upm.edu.my/index.php/mjmhs/article/view/391
Issue
Vol. 17 No. 3 (2021)
Section
Original Articles

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