The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and βs/ βthal anemia patients

Haematologica

Volumn 89, Issue 4, 2004, Pages 490-492

  Politou, Marianna ^a,b   Kalotychou, Vassiliki ^a   Pissia, Maria ^a   Rombos, Yannis ^a   Sakellaropoulos, Nikos ^a   Papanikolaou, George ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b NONE   (Greece)

Author keywords

HFE; Iron; SLC11A3; Thalassemio

Indexed keywords

BETA GLOBIN; FERRITIN; FERROPORTIN 1; IRON;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BETA THALASSEMIA; CLINICAL ARTICLE; DEMOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GREECE; HETEROZYGOSITY; HFE GENE; HUMAN; IRON METABOLISM; IRON OVERLOAD; MALE; PREVALENCE; SLC11A3 GENE;

ADULT; AGED; ANEMIA; CATION TRANSPORT PROTEINS; FEMALE; FERRITINS; GENOTYPE; GREECE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; THALASSEMIA;

EID: 2942749950     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Jouanolle AM, Fergelot P, Gandon G, Yaouanq J, Le Gall JY, David V. A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. Hum Genet 1997;100:544-76.
2. Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002;100:733.
3. Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 2002;119:539-46.
4. Papanikolaou G, Politou M, Terpos E, Fourlemadis S, Sakellaropoulos N, Loukopoulos D. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis 2000;26:163-8
5. Olivieri NF. Progression of iron overload in sickle cell disease. Semin Hematol 2001;38:57-62.
6. Piperno A, Mariani R, Arosio C, Vergani A, Bosio S, Fargion S, et al. Haemochromatosis in patients with beta-thalassaemia trait. Br J Haematol 2000;111:908-14.
7. Melis MA, Cau M, Deidda F, Barella S, Cao A, Galanello R. H63D mutation in the HFE gene increases iron overload in β-thalassemia carriers. Haematologica 2002;87:242-5.
8. Rees DC, Luo LY, Thein SL, Singh BM, Wickramasinghe S. Nontransfusional iron overload in thalassemia: association with hereditary hemochromatosis. Blood 1997;90:3234-6.
9. Cappellini MD, Fargion SR, Sampietro M, Graziadei G, Fioreili G. Nontransfusional iron overload in thalassemia intermedia: role of the hemochromatosis allele. Blood 1998;92:4479-80.
10. Cazzola M. Genetic disorders of iron overload and the novel "ferroportin disease". Haematologica 2003;88:721-4.