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

Che Ghazali Norul Hajar; Suhaida Md Akhir; Zulkafli Zefarina; Nor Suhaila Md Riffin; Tuan Hulwani Tuan Mohammad; Mohd Nazri Hassan; Sabreena Safuan; Mohd Yusmaidie Aziz; Siddhartha Pati; Geoffrey Keith Chambers; Hisham Atan Edinur

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

Author: Che Ghazali Norul Hajar ^{1
,

2} ; Suhaida Md. Akhir ¹ ; Zulkafli Zefarina ^{2
,

3} ; Nor Suhaila Md. Riffin ⁴ ; Tuan Hulwani Tuan Mohammad ⁵ ; Mohd Nazri Hassan ^{2
,

3} ; Sabreena Safuan ¹ ; Mohd Yusmaidie Aziz ⁶ ; Siddhartha Pati ^{7
,

8} ; Geoffrey Keith Chambers ⁹ ; Hisham Atan Edinur ^{1
,

2
,

10}
Author Information

1. School of Health Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia&
2. Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia&
3. School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia
4. Hospital Sultan Haji Ahmad Shah, 28000 Temerloh, Pahang, Malaysia
5. Hospital Seberang Jaya, Perai, 13700 Permatang Pauh, Pulau Pinang, Malaysia
6. Integrative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Pulau Pinang, Malaysia
7. Centre of Excellence, Khallikote University, Berhampur, Ganjam, 761008, Odisha, India&
8. Research Division, Association for Biodiversity Conservation and Research, 756001, Odiaha, India
9. School of Biological Sciences, Victoria University of Wellington, Wellington, 6012 New Zealand
10. Environmental Futures Research Institute, Griffith University, Nathan, Queensland 4111, Australia
Publication Type:Journal Article
Keywords: Hereditary hemochromatosis, H63D, S65C, C282Y, polymorphism, Malays, Chinese, Indians
From:Malaysian Journal of Medicine and Health Sciences 2021;17(No.3):49-54
CountryMalaysia
Language:English
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.
Full text:11.2021my1068.pdf