A very rare association of three mutations of the HFE gene for hemochromatosis.
In the present paper, we describe a patient who is a compound heterozygote for three mutations in the HFE gene: C282Y, H63D, and E168Q. The patient's mother carries two copies of H63D and one copy of E168Q; the patient's father is heterozygous for C282Y. The family study indicates that the patient, as well as his sister, a maternal uncle, and a first cousin, all have inherited a single HFE allele that contains two mutations H63D and E168Q. The clinical symptoms and laboratory findings of the patient and his relatives are consistent with the conclusion that the E168Q mutation by itself is unlikely to result in hemochromatosis.
Menardi
Giuseppe
G
Servizio di Immunoematologia e Trasfusionale, ASO Santa Croce e Carle, Cuneo, Italy. menardi.g@scroce.sanitacn.it
Perotti
Laura
L
Prucca
Maristella
M
Martini
Sabina
S
Prandi
Giancarlo
G
Peano
Gianmichele
G
D000328:Adult; D000368:Aged; D005260:Female; D008040:Genetic Linkage; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins