Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder

• Published in: European journal of haematology 2004-07, Vol.73 (1), p.43-49
• Main Authors: Viprakasit, Vip, Vathesathokit, Prin, Chinchang, Worrawut, Tachavanich, Kalaya, Pung-Amritt, Parichat, Wimhurst, Victoria L. C., Yenchitsomanus, Pa-Thai, Merryweather-Clarke, Alison T., Tanphaichitr, Voravarn S.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Alleles; Child; Child, Preschool; Female; Ferritins - blood; Gene Frequency; Hemochromatosis Protein; Hemoglobin E - genetics; HFE mutations; Histocompatibility Antigens Class I - genetics; Homozygote; homozygous haemoglobin E; Humans; Iron - deficiency; Iron Overload - blood; Iron Overload - genetics; Male; Membrane Proteins - genetics; Mutation; RNA Splicing - genetics; Thailand; thalassaemia
• ISSN: 0902-4441; 1600-0609
• DOI: 10.1111/j.1600-0609.2004.00246.x

:  Co‐inheritance of HFE mutations has a substantial role in iron overload in β‐thalassaemia carriers in north European populations where two HFE mutations, C282Y and H63D, are prevalent. In Thailand, there was little information about the allele frequency of HFE mutations. It is of interest to determine whether such determinants represent a potential risk in developing iron overload as nearly 40% of the Thai population carry either one of thalassaemia or haemoglobinpathy alleles. A total of 380 normal controls from five different regions including Bangkok were screened for the HFE C282Y, H63D and IVS5+1 G→A alleles. In addition, 70 individuals with homozygous haemoglobin E (Hb EE) were also tested and their genotypes were correlated with levels of serum ferritin. H63D is the major HFE mutation found in the Thai population with an average allele frequency of 3% (range 1–5%). One individual was heterozygous for the splice site mutation IVS5 + 1 G → A, and the C282Y allele was not detected. In the Hb EE group, five individuals had iron deficiency (ferritin