Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients.
OBJECTIVE
Beta-thalassaemia minor (BTM) alone does not lead to iron overload, however, some gene modifiers and acquired causes are reported. When it is inherited together with a mutation in the HFE (HLA-H) gene associated with hereditary haemochromatosis, iron overload may ensue. To analyse the relationship between iron status and HFE mutations in Iranian BTM patients, we compared the frequency of the C282Y and H63D HFE mutations and ferritin level in a group of BTM patients from the National Thalassaemia Transfusion and Care Centre with that of healthy individuals.


METHODS
Ninety-three (56 females) documented BTM cases and 104 (54 females) controls were enrolled in the study. Serum ferritin level was measured in all subjects by immuno-radiometric assay and HFE genotypes were determined using restriction fragment length polymorphism analysis of PCR-amplified HFE gene fragment.


RESULTS
Eighteen (19.4%) BTM patients vs. 12 (11.5%) controls were H63D heterozygotes, while there were three (3.2%) cases and three (2.9%) controls with H63D homozygosity. All three C282Y mutations were found in BMT patients with one of them being a compound heterozygote. A significant difference was observed in the total number of HFE mutations in favour of BTM patients over the controls (P < 0.05, OR = 2.064). The H63D and C282Y allele frequencies were 12.9 and 1.61 in patients and 8.65 and 0 in controls, respectively. The mean ferritin level in cases with HFE mutations showed no significant difference from that of the patients without mutations (P > 0.05).


CONCLUSIONS
Our results suggest that HFE mutations C282Y and H63D are more frequent in Iranian BTM patients than in the normal population, causing no significant changes in serum ferritin level.
Jazayeri
Maryam
M
Research Centre for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Bakayev
Valery
V
Adibi
Peyman
P
Haghighi Rad
Farhad
F
Zakeri
Hamid
H
Kalantar
Ebrahim
E
Zali
Mohammad Reza
MR
D000328:Adult; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005293:Ferritins