The influence of hemochromatosis mutations on iron overload of thalassemia major

Haematologica

Volumn 84, Issue 9, 1999, Pages 799-803

  Longo, Filomena ^d   Zecchina, Gabriella ^a   Sbaiz, Luca ^b   Fischer, Roland ^d   Piga, Antonio ^d   Camaschella, Clara ^a,c  

^a UNIVERSITY OF TURIN   (Italy)

^b Dipto di Patologia Clinica OIRM   (Italy)

^c SAN LUIGI GONZAGA HOSPITAL   (Italy)

^d NONE

Author keywords

HFE mutations; Iron; Iron balance; Iron overload; Liver iron; Thalassemia

Indexed keywords

FERRITIN; IRON; RESTRICTION ENDONUCLEASE;

ADOLESCENT; ADULT; ARTICLE; CHELATION; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ANALYSIS; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GLOBIN GENE; HEMOCHROMATOSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; THALASSEMIA MAJOR;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; BETA-THALASSEMIA; BLOOD TRANSFUSION; CHELATION THERAPY; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; INFANT; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; POINT MUTATION;

EID: 0032826029     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Gabutti V, Piga A. Results of long-term iron-chelating therapy. Acta Haematol 1996; 95:26-36.
2. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13:399-08.
3. Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60:828-32.
4. Jazwinska EC, M Cullen L, Busfield F, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14:249-50.
5. Jouanolle AM, Gandon G, Jezequel P, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14:251-2.
6. Pietrangelo A, Camaschella C. Molecular genetics and control of iron metabolism in hemochromatosis. Haematologica 1998; 83:456-61.
7. 2 microglobulin interaction and cell surface expression. J Biol Chem 1997; 272:14025-8.
8. Risch N. Haemochromatosis, HFE and genetic complexity. Nat Genet 1997; 17:375-6.
9. Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998; 95:1472-6.
10. Lebron JA, Bennett MJ, Vaughn DE, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998; 93:111-23.
11. Piperno A, Sampietro M, Pietrangelo A, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998; 114:996-1002.
12. Piga A, Longo F, Consolati A, Sacchetti L, De Leo A, Caramellino L. Mortality ad morbidity in thalassemia conventional treatment. Bone Marrow Transplant 1997; 19(Suppl. 12):11-3.
13. Piga A, Magliano M, Bianco I, Capalbo I, Boccaccini R, Gabutti V. Compliance with chelation therapy in Torino. In: Sirchia G, Zanella A, eds.Thalassemia today: the Mediterranean experience. Milan: CTOMP; 1987. p. 141-5.
14. Sambrook J, Frisch E, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA, 1989.
15. Saiki RS, Walsh PS, Levenson CH, Erlich HA. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 1989; 86:6230-4.
16. Newton CR, Graham A, Heptinstall LE, et al. Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acid Res 1989;17:2503.
17. Brittenham GM, Farrell DE, Harris JW, Feldman ES, Danish EH. Magnetic susceptibility measurement of human iron stores. N Engl J Med 1982; 307:1671-5.
18. Nielsen P, Fischer R, Engelhardt R, Tondiry P, Gabbe EE, Janca GE. Liver iron stores in patients with secondary haemochromatosis under iron chelation therapy with deferoxamine or deferiprone. Br J Haematol 1995; 91:827-33.
19. Roberts AG, Whatley SD, Morgan RR, Wowood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349:321-3.
20. Yaouanq J, Grosbois B, Jouanolle AM, Goasguen J, Leblay R. Haemochromatosis Cys282Tyr mutation in pyridoxine-responsive anaemia. Lancet 1997; 349: 1475-6.
21. Rees DC, Luo LY, Thein SL, Singh BM, Wickramasinghe S. Nontransfusional iron overload in thalassemia: association with hereditary hemochromatosis Blood 1997; 90:3234-5.
22. Cappellini MD, Fargion SR, Sampietro M, Graziadei G, Fiorelli G. Nontransfusional iron overload in thalassemia intermedia: role of the hemochromatosis allele. Blood 1998; 92:4479-80.
23. Borgna-Pignatti C, Solinas A, Bombieri C, et al. The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated. Br J Haematol 1998; 103: 813-6.
24. Angelucci E, Muretto P, Lucarelli G, et al. Phlebotomy to reduce iron overload in patients cured of thalassemia by bone marrow transplantation. Italian Cooperative Group for Phlebotomy Treatment of Transplanted Thalassemia Patients. Blood 1997; 90: 994-8.
25. Roetto A, Totaro A, Cazzola M, et al. The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999; 64:1388-93.