HJV hemochromatosis, iron overload, and hypogonadism in a Brazilian man: Treatment with phlebotomy and deferasirox

Acta Haematologica

Volumn 124, Issue 4, 2010, Pages 204-205

  Santos, Paulo Caleb J L ^a   Cançado, Rodolfo D ^b   Pereira, Alexandre C ^a   Chiattone, Carlos S ^b   Krieger, Jose Eduardo ^a   Guerra Shinohara, Elvira M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DEFERASIROX; FERRITIN; HEMOGLOBIN; LUTEINIZING HORMONE; TESTOSTERONE; TRANSFERRIN;

ADULT; ARTICLE; BRAZIL; CASE REPORT; CAUCASIAN; DISEASE CONTROL; ERYTHROCYTE COUNT; EXON; FOLLITROPIN BLOOD LEVEL; GENE SEQUENCE; GENETIC ANALYSIS; GLUCOSE INTOLERANCE; HEART LEFT VENTRICLE EJECTION FRACTION; HEMATOCRIT; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HYPOGONADISM; IMPOTENCE; IRON BLOOD LEVEL; IRON OVERLOAD; JUVENILE HEMOCHROMATOSIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIN; PHLEBOTOMY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TESTOSTERONE BLOOD LEVEL; WEAKNESS;

BENZOIC ACIDS; BRAZIL; CATION TRANSPORT PROTEINS; COMBINED MODALITY THERAPY; EXONS; GENE AMPLIFICATION; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; HYPOGONADISM; IRON CHELATING AGENTS; IRON OVERLOAD; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; PHLEBOTOMY; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TRANSFERRIN; STROKE VOLUME; TRIAZOLES; YOUNG ADULT;

EID: 78149306479     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000321493     Document Type: Article

References (10)

1. Wallace DF, Subramaniam VN: Non- HFE haemochromatosis. World J Gastroenterol 2007; 13: 4690-4698.
2. Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J: Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. Haematologica 2007; 92: 421-422.
3. Kirk P, Roughton M, Porter JB, Walker JM, Tanner MA, Patel J, Wu D, Taylor J, Westwood MA, Anderson LJ, Pennell DJ: Cardiac T2 * magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation 2009; 120: 1961-1968.
4. Lee PL, Beutler E, Rao SV, Barton JC: Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004; 103: 4669-4671.
5. Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ: Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Hum Genet 2004; 115: 409-417.
6. Cappellini MD, Taher A: Deferasirox (Exjade) for the treatment of iron overload. Acta Haematol 2009; 122: 165-173.
7. Pietrangelo A, Brissot P, Bonkovsky H, Niederau C, Rojkjaer L, Weitzman R: A phase I/ II, open-label, dose-escalation trial using the once-daily oral chelator deferasirox to treat iron overload in HFE -related hereditary hemochromatosis. J Hepatol 2009; 50:S24.
8. Pietrangelo A: Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010; 139: 393-408.e2.
9. Nick H, Allegrini PR, Fozard L, Junker U, Rojkjaer L, Salie R, Niederkofler V, O'Reilly T: Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. Exp Biol Med (Maywood) 2009; 234: 492-503.
10. Gehrke SG, Pietrangelo A, Kascak M, Braner A, Eisold M, Kulaksiz H, Herrmann T, Hebling U, Bents K, Gugler R, Stremmel W: HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet 2005; 67: 425-428.