Homozygous deletion of HFE is the common cause of hemochromatosis in sardinia

Haematologica

Volumn 95, Issue 4, 2010, Pages 685-687

  le Gac, Gérald ^a   Congiu, Rita ^b   Gourlaouen, Isabelle ^a   Cau, Milena ^c   Férec, Claude ^a   Melis, Maria Antonietta ^c  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^b Osp Regionale per le Microcitemie   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

Founder effect; Gross deletion; Hemochromatosis; Sardinia

Indexed keywords

HFE PROTEIN; HLA A ANTIGEN; HLA B ANTIGEN; IRON; TRANSFERRIN;

ADULT; ALU SEQUENCE; CONTROLLED STUDY; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC RECOMBINATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IRON OVERLOAD; ITALY; LETTER; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; ITALY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; SEQUENCE DELETION;

EID: 77950645469     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.016816     Document Type: Letter

References (5)

1. Le Gac G, Gourlaouen I, Ronsin C, Géromel V, Bourgarit A, Parquet N, et al. Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood. 2008;112(13):5238-40.
2. Pelucchi S, Mariani R, Bertola F, Arosio C, Piperno A. Homozygous deletion of HFE: the Sardinian hemochromatosis? Blood. 2009;113(16):3886.
3. Lampis R, Morelli L, De Virgiliis S, Congia M, Cucca F. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations. Tissue Antigens. 2000;56(6):515-21.
4. Candore G, Mantovani V, Balistreri CR, Lio D, Colonna-Romano G, Cerreta V, et al. Frequency of the HFE gene mutations in five Italian populations. Blood Cells Mol Dis. 2002;29(3):267-73.
5. Grimaldi MC, Crouau-Roy B, Amoros JP, Cambon-Thomsen A, Carcassi C, Orru S, et al. West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history.