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Juvenile hemochromatosis(JH; HFE2)

MedGen UID:
82769
Concept ID:
C0268060
Disease or Syndrome
Synonyms: Hemochromatosis type 2; Juvenile Hereditary Hemochromatosis
SNOMED CT: Hemochromatosis type 2 (50855007); Juvenile hemochromatosis (50855007)
 
Related genes: HJV, HAMP
 
Monarch Initiative: MONDO:0019257
OMIM®: 602390

Disease characteristics

Excerpted from the GeneReview: Juvenile Hemochromatosis
Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced. [from GeneReviews]
Authors:
Alberto Piperno  |  Francesca Bertola  |  Angela Bentivegna   view full author information

Professional guidelines

PubMed

Franchini M
Am J Hematol 2006 Mar;81(3):202-9. doi: 10.1002/ajh.20493. PMID: 16493621
Zoller H, Cox TM
Clin Gastroenterol Hepatol 2005 Oct;3(10):945-58. doi: 10.1016/s1542-3565(05)00607-5. PMID: 16234038
Aguilar-Martinez P, Schved JF, Brissot P
Am J Gastroenterol 2005 May;100(5):1185-94. doi: 10.1111/j.1572-0241.2005.40998.x. PMID: 15842597

Recent clinical studies

Etiology

Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E
Blood Cells Mol Dis 2019 Feb;74:30-33. Epub 2018 Oct 22 doi: 10.1016/j.bcmd.2018.10.006. PMID: 30389309
Pelusi S, Rametta R, Della Corte C, Congia R, Dongiovanni P, Pulixi EA, Fargion S, Fracanzani AL, Nobili V, Valenti L
Ann Hepatol 2014 Sep-Oct;13(5):568-71. PMID: 25152992
Yan BC, Hart JA
Arch Pathol Lab Med 2009 Jul;133(7):1078-86. doi: 10.5858/133.7.1078. PMID: 19642734
Lok CY, Merryweather-Clarke AT, Viprakasit V, Chinthammitr Y, Srichairatanakool S, Limwongse C, Oleesky D, Robins AJ, Hudson J, Wai P, Premawardhena A, de Silva HJ, Dassanayake A, McKeown C, Jackson M, Gama R, Khan N, Newman W, Banait G, Chilton A, Wilson-Morkeh I, Weatherall DJ, Robson KJ
Blood 2009 Jul 2;114(1):20-5. Epub 2009 Apr 2 doi: 10.1182/blood-2009-01-199109. PMID: 19342478
Zoller H, Cox TM
Clin Gastroenterol Hepatol 2005 Oct;3(10):945-58. doi: 10.1016/s1542-3565(05)00607-5. PMID: 16234038

Diagnosis

Li CX, Zhang L, Wang P, Sun L
Chin Med J (Engl) 2019 Dec 20;132(24):3018-3020. doi: 10.1097/CM9.0000000000000547. PMID: 31809314Free PMC Article
Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E
Blood Cells Mol Dis 2019 Feb;74:30-33. Epub 2018 Oct 22 doi: 10.1016/j.bcmd.2018.10.006. PMID: 30389309
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P
Clin Res Hepatol Gastroenterol 2014 Apr;38(2):143-54. Epub 2013 Dec 8 doi: 10.1016/j.clinre.2013.11.003. PMID: 24321703
Brissot P, Troadec MB, Bardou-Jacquet E, Le Lan C, Jouanolle AM, Deugnier Y, Loréal O
Blood Rev 2008 Jul;22(4):195-210. Epub 2008 Apr 21 doi: 10.1016/j.blre.2008.03.001. PMID: 18430498
Camaschella C, Roetto A, De Gobbi M
Semin Hematol 2002 Oct;39(4):242-8. doi: 10.1053/shem.2002.35635. PMID: 12382199

Therapy

Cooray SD, Heerasing NM, Selkrig LA, Subramaniam VN, Hamblin PS, McDonald CJ, McLean CA, McNamara E, Leet AS, Roberts SK
J Med Case Rep 2018 Jan 26;12(1):18. doi: 10.1186/s13256-017-1526-6. PMID: 29373985Free PMC Article
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P
Clin Res Hepatol Gastroenterol 2014 Apr;38(2):143-54. Epub 2013 Dec 8 doi: 10.1016/j.clinre.2013.11.003. PMID: 24321703
Young J
J Clin Endocrinol Metab 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID: 22392951
Nick H, Allegrini PR, Fozard L, Junker U, Rojkjaer L, Salie R, Niederkofler V, O'Reilly T
Exp Biol Med (Maywood) 2009 May;234(5):492-503. Epub 2009 Feb 20 doi: 10.3181/0811-RM-337. PMID: 19234060
Brissot P, Troadec MB, Bardou-Jacquet E, Le Lan C, Jouanolle AM, Deugnier Y, Loréal O
Blood Rev 2008 Jul;22(4):195-210. Epub 2008 Apr 21 doi: 10.1016/j.blre.2008.03.001. PMID: 18430498

Prognosis

Kong X, Xie L, Zhu H, Song L, Xing X, Yang W, Chen X
Orphanet J Rare Dis 2019 Jul 8;14(1):171. doi: 10.1186/s13023-019-1097-2. PMID: 31286966Free PMC Article
Mantilla-Hernández JC, Amaya-Mujica J
Rev Esp Patol 2019 Jan-Mar;52(1):45-49. Epub 2018 Nov 2 doi: 10.1016/j.patol.2018.08.005. PMID: 30583831
Ünlüsoy Aksu A, Caleffi A, Pietrangelo A, Sari S, Eğritaş Gürkan Ö, Demirtaş Z, Yilmaz G, Dalgiç B
J Pediatr Hematol Oncol 2017 Aug;39(6):466-469. doi: 10.1097/MPH.0000000000000752. PMID: 28067690
Nick H, Allegrini PR, Fozard L, Junker U, Rojkjaer L, Salie R, Niederkofler V, O'Reilly T
Exp Biol Med (Maywood) 2009 May;234(5):492-503. Epub 2009 Feb 20 doi: 10.3181/0811-RM-337. PMID: 19234060
Camaschella C, Roetto A, Cicilano M, Pasquero P, Bosio S, Gubetta L, Di Vito F, Girelli D, Totaro A, Carella M, Grifa A, Gasparini P
Eur J Hum Genet 1997 Nov-Dec;5(6):371-5. PMID: 9450181

Clinical prediction guides

Ganz T, Olbina G, Girelli D, Nemeth E, Westerman M
Blood 2008 Nov 15;112(10):4292-7. Epub 2008 Aug 8 doi: 10.1182/blood-2008-02-139915. PMID: 18689548
Angelopoulos NG, Goula AK, Papanikolaou G, Tolis G
Osteoporos Int 2006 Jan;17(1):150-5. Epub 2005 Jul 5 doi: 10.1007/s00198-005-1920-6. PMID: 15997423
Vaiopoulos G, Papanikolaou G, Politou M, Jibreel I, Sakellaropoulos N, Loukopoulos D
Arthritis Rheum 2003 Jan;48(1):227-30. doi: 10.1002/art.10755. PMID: 12528123
Cox TM, Halsall DJ
Blood Cells Mol Dis 2002 Nov-Dec;29(3):411-7. doi: 10.1006/bcmd.2002.0580. PMID: 12547231
Camaschella C, Roetto A, De Gobbi M
Semin Hematol 2002 Oct;39(4):242-8. doi: 10.1053/shem.2002.35635. PMID: 12382199

Recent systematic reviews

Kong X, Xie L, Zhu H, Song L, Xing X, Yang W, Chen X
Orphanet J Rare Dis 2019 Jul 8;14(1):171. doi: 10.1186/s13023-019-1097-2. PMID: 31286966Free PMC Article

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