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Allelic diversity of the hemochromatosis gene (HFE) in Malays, Chinese and Indians
Che Ghazali Norul Hajar1, Suhaida Md. Akhir2, Sabreena Safuan3, Zulkafli Zefarina4, Mohd Nazri Hassan5, Hisham Atan Edinur6, Nor Suhaila Md. Riffin7, Tuan Hulwani Tuan Mohammad8, Mohd Yusmaidie Aziz9, Siddhartha Pati10, Geoffrey Keith Chambers11.
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 haemo- chromatosis (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 represent- ing 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.
Affiliation:
- Universiti Sains Malaysia (Health Campus), Kubang Kerian, Kelantan, Malaysia, Malaysia
- Universiti Sains Malaysia (Health Campus), Kubang Kerian, Kelantan, Malaysia, Malaysia
- Universiti Sains Malaysia (Health Campus), Kubang Kerian, Kelantan, Malaysia, Malaysia
- Universiti Sains Malaysia (Health Campus), Kubang Kerian, Kelantan, Malaysia, Malaysia
- Universiti Sains Malaysia (Health Campus), Kubang Kerian, Kelantan, Malaysia, Malaysia
- Hospital Sultan Haji Ahmad Shah Temerloh, Pahang, Ministry of Health, Malaysia
- Hospital Seberang Jaya, Malaysia
- Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Malaysia
- Khallikote University, India
- Victoria University of Wellington, New Zealand
- Health Campus, Universiti Sains Malaysia (USM), 16150 Kubang Kerian, Kelantan, Malaysia
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Indexed by |
MyJurnal (2021) |
H-Index
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3 |
Immediacy Index
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0.000 |
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0 |
Indexed by |
Scopus 2020 |
Impact Factor
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CiteScore (0.2) |
Rank |
Q4 (Medicine (all)) |
Additional Information |
SJR (0.144) |
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