Coexistence of β-thalassemia and hereditary hemochromatosis in homozygosity: A possible synergic effect?

Hemoglobin

Volumn 33, Issue 2, 2009, Pages 155-157

  Bukvic, Nenad ^a,c   Sportelli, Filomena ^b   Sessa, Francesco ^a   Longo, Vittoria ^a   Roberti, Maria Grazia ^b   Santacroce, Rosa ^a   Margaglione, Maurizio ^a  

^a Ist Produzioni Preparazioni A   (Italy)

^b Azienda Ospedalo Universitaria Foggia ^*  (Italy)

^c UNIVERSITY OF FOGGIA   (Italy)

Author keywords

thalassemia thal; Hereditary hemochromatosis (hh); Homozygosity; Synergic effect

Indexed keywords

IRON CHELATING AGENT;

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; PHENOTYPE; ADOLESCENT; GENETICS; HOMOZYGOTE; MUTATION;

ADOLESCENT; ADULT; BETA-THALASSEMIA; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; MALE; MUTATION;

EID: 67449092552     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260902817354     Document Type: Article

References (7)

1. Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology. 1998;114(5):996-1002.
2. Rees DC, Luo LY, Thei SL, Singh BM, Wickramashinglie S. Nontransfusional iron overload in thalassemia: Association with hereditary hemochromatosis. Ann NY Acad Sci. 1998;850:490-494.
3. Arruda V, Agostino FM, Cancado R, Costa F, Saad STO. β Thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene. Am J Ileinatol. 2000;63(4):230-233.
4. Aguilar-Martinez P, Schved JF, Badens C, Thuret I, Michel G, Neonato MG, et al. Iron overload in thalassemias and genetic haemochromatosis. liurJHaemtol. 2000;64(4):279-280.
5. Dupradeu F, Altenberg-Greulich B, Warin R, Fuentes V, Monti J, Rochette J. A 3-dimensional model building by homology of the HFE protein: Molecular consequences and application to antibody development. BiochimBiophys Ada. 2000;1481(2):213-221.
6. Le Gac G, Férec C. The molecular genetics of haemochromatosis. liur J Hum Genet. 2005;13(11):1172-1185.
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. Ifaeinatobgica. 2002;87(3):242-245.