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Hemochromatosis type 2B(HFE2B)

MedGen UID:
356040
Concept ID:
C1865616
Disease or Syndrome
Synonyms: HAMP-Related Juvenile Hemochromatosis; HFE2B
 
Gene (location): HAMP (19q13.12)
 
Monarch Initiative: MONDO:0013220
OMIM®: 613313

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

Additional description

From OMIM
Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (606464). HFE2 is genetically heterogeneous (see HFE2A, 602390).  http://www.omim.org/entry/613313

Clinical features

From HPO
Secondary amenorrhea
MedGen UID:
115919
Concept ID:
C0232940
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Increased serum iron
MedGen UID:
57739
Concept ID:
C0151900
Finding
Increased circulating ferritin concentration
MedGen UID:
69130
Concept ID:
C0241013
Finding
Increased concentration of ferritin in the blood circulation.
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Elevated transferrin saturation
MedGen UID:
868498
Concept ID:
C4022892
Finding
An above normal level of saturation of serum transferrin with iron.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.

Professional guidelines

PubMed

Kawabata H
Int J Hematol 2018 Jan;107(1):31-43. Epub 2017 Nov 13 doi: 10.1007/s12185-017-2365-3. PMID: 29134618

Recent clinical studies

Etiology

Kawabata H
Int J Hematol 2018 Jan;107(1):31-43. Epub 2017 Nov 13 doi: 10.1007/s12185-017-2365-3. PMID: 29134618
Ishizu Y, Katano Y, Honda T, Hayashi K, Ishigami M, Itoh A, Hirooka Y, Nakano I, Goto H
J Gastroenterol Hepatol 2012 Jun;27(6):1112-6. doi: 10.1111/j.1440-1746.2011.06976.x. PMID: 22098610
Cunat S, Giansily-Blaizot M, Bismuth M, Blanc F, Dereure O, Larrey D, Quellec AL, Pouderoux P, Rose C, Raingeard I, Renard E, Schved JF, Aguilar-Martinez P; CHU Montpellier AOI 2004 Working Group
Clin Chem 2007 Dec;53(12):2060-9. Epub 2007 Oct 19 doi: 10.1373/clinchem.2007.090605. PMID: 17951290

Diagnosis

Griffiths WJH, Besser M, Bowden DJ, Kelly DA
Lancet Child Adolesc Health 2021 Jul;5(7):524-530. Epub 2021 Apr 15 doi: 10.1016/S2352-4642(20)30392-8. PMID: 33861982
Wu LY, Song ZY, Li QH, Mou LJ, Yu YY, Shen SS, Song XX
Medicine (Baltimore) 2021 Apr 2;100(13):e25258. doi: 10.1097/MD.0000000000025258. PMID: 33787609Free PMC Article
Santiago de Sousa Azulay R, Magalhães M, Tavares MDG, Dualibe R, Barbosa L, Sá Gaspar S, Faria AM, Nascimento GC, Damianse SDSP, Rocha VCC, Gomes MB, Dos Santos Faria M
Am J Case Rep 2020 Apr 24;21:e923108. doi: 10.12659/AJCR.923108. PMID: 32327622Free PMC Article
Kawabata H
Int J Hematol 2018 Jan;107(1):31-43. Epub 2017 Nov 13 doi: 10.1007/s12185-017-2365-3. PMID: 29134618
Zhang AS, West AP Jr, Wyman AE, Bjorkman PJ, Enns CA
J Biol Chem 2005 Oct 7;280(40):33885-94. Epub 2005 Aug 15 doi: 10.1074/jbc.M506207200. PMID: 16103117

Therapy

Wu LY, Song ZY, Li QH, Mou LJ, Yu YY, Shen SS, Song XX
Medicine (Baltimore) 2021 Apr 2;100(13):e25258. doi: 10.1097/MD.0000000000025258. PMID: 33787609Free PMC Article
Ishizu Y, Katano Y, Honda T, Hayashi K, Ishigami M, Itoh A, Hirooka Y, Nakano I, Goto H
J Gastroenterol Hepatol 2012 Jun;27(6):1112-6. doi: 10.1111/j.1440-1746.2011.06976.x. PMID: 22098610

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