[HFE gene mutations in Tunisian major beta-Thalassemia and iron overload].
OBJECTIVE
In this study we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Tunisian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians. In this study we wanted to correlate these mutations with the iron status in major beta-thalassemia patients.


METHODS
Fifty Tunisian major beta-thalassemia were screening for the C282Y and H63D by digestion of polymerase chain reaction products (RFLP). Serum ferritin level was measured by immunoenzymatic microparticular essay.


RESULTS
The allele frequency of H63D mutation was 17%. C282Y mutation was not present in our studied patients. No statistically significant difference of serum ferritin level was found between major beta-thalassemia with and without HFE mutations.


CONCLUSIONS
Our results suggest that H63D mutation is so frequent in Tunisian major beta-thalassemia patients than in the general population and that the coinheritance of H63D mutation does not influence the severity of iron overload in these patients.
Mellouli
F
F
Centre national de greffe de moelle osseuse de Tunis, Tunisie.
El Borgi
W
W
Kaabi
H
H
Ben Hassen
E
E
Sassi
R
R
Hmida
H
H
Cherif
G
G
Maamar
M
M
Zouari
B
B
Boukef
K
K
Bejaoui
M
M
Hmida
S
S
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000209:etiology / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D014416:Tunisia; D017086:beta-Thalassemia / Q000235:genetics*
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005293:Ferritins