title: H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers.
abstract: We determined the prevalence of the H63D and the IVS5#1G-A HFE mutations in 370 (169 males and 201 females) Thai thalassemia carriers and 201 normal subjects. While no IVS5#1G-A mutation was found, the H63D heterozygosity was identified in 5.5% (11/201) of normal subjects and 7.3% (27/370) of thalassemia carriers. Within the thalassemic group, the medians (ranges) of serum ferritin were 217.5 ng/ml (20.1-424.3) and 169.8 ng/ml (3.9-3,536.0) in male subjects and 30.4 ng/ml (11.9-130.7) and 49.3 ng/ml (0.6-931.0) in female subjects with (HD) and without (HH) H63D mutation, respectively. The proportions of subjects with elevated ferritin were found to be 37.5% (6/16) for HD and 14.0% (18/129) for HH in male and 0% (0/11) for HD and 3.0% (5/164) for HH in female subjects, respectively. Statistical analysis of all the data revealed no significant difference. Among 14 Hb E/beta-thalassemia patients, no difference in hematological data as well as serum ferritin levels was observed between those with (HD) and without (HH) H63D mutation. Therefore, the H63D heterozygosity has no significant effect on the serum ferritin level and screening for this HFE mutation in thalassemic patients is not recommended.
authors.affiliation: Graduate School, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Supawadee
authors.initials: S
authors.lastname: Yamsri
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Sanchaisuriya
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.forename: Arunee
authors.initials: A
authors.lastname: Jetsrisuparb
authors.forename: Surapon
authors.initials: S
authors.lastname: Wiangnon
authors.forename: Yossombat
authors.initials: Y
authors.lastname: Changtrakul
authors.forename: Pattara
authors.initials: P
authors.lastname: Sanchaisuriya
mesh_terms: D000328:Adult; D000368:Aged; D007446:Chromosome Inversion; D015897:Comorbidity; D005260:Female; D005293:Ferritins / Q000097:blood*; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006446:Hemoglobin E / Q000235:genetics; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000502:physiology; D006801:Humans; D019190:Iron Overload / Q000209:etiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D015995:Prevalence; D013785:Thailand / Q000453:epidemiology; D013789:Thalassemia / Q000097:blood* / Q000150:complications / Q000453:epidemiology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005293:Ferritins; D006446:Hemoglobin E