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Juvenile haemochromatosis.
Griffiths WJH, Besser M, Bowden DJ, Kelly DA. Griffiths WJH, et al. Lancet Child Adolesc Health. 2021 Jul;5(7):524-530. doi: 10.1016/S2352-4642(20)30392-8. Epub 2021 Apr 15. Lancet Child Adolesc Health. 2021. PMID: 33861982 Review.
Juvenile haemochromatosis is autosomal recessive and is generally associated with mutations in HJV (type 2A) or HAMP (type 2B). Mutations in TFR2 cause an intermediate severity phenotype (type 3), but this phenotype can cross over into the juvenile hae …
Juvenile haemochromatosis is autosomal recessive and is generally associated with mutations in HJV (type 2A) or HAMP (type …
Diagnosis and management of hereditary hemochromatosis.
Salgia RJ, Brown K. Salgia RJ, et al. Clin Liver Dis. 2015 Feb;19(1):187-98. doi: 10.1016/j.cld.2014.09.011. Epub 2014 Oct 23. Clin Liver Dis. 2015. PMID: 25454304 Review.
Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. ...This article highlights the current information and data regarding the diagnosis and management of hemochromatosis....
Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. ...This article highlights the …
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy.
Mantilla-Hernández JC, Amaya-Mujica J. Mantilla-Hernández JC, et al. Rev Esp Patol. 2019 Jan-Mar;52(1):45-49. doi: 10.1016/j.patol.2018.08.005. Epub 2018 Nov 2. Rev Esp Patol. 2019. PMID: 30583831 Review.
Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other …
Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classi …
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Wu HX, Liu JY, Yan DW, Li L, Zhuang XH, Li HY, Zhou ZG, Zhou HD. Wu HX, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1522. doi: 10.1002/mgg3.1522. Epub 2020 Oct 5. Mol Genet Genomic Med. 2020. PMID: 33016646 Free PMC article. Review.
BACKGROUND: Atypical clinical symptoms of juvenile hereditary hemochromatosis (JHH) often leads to misdiagnosis and underdiagnosis bringing ominous outcomes, even death. ...We summarized the process of overall clinical management of reported 26 cases comparing to our novel …
BACKGROUND: Atypical clinical symptoms of juvenile hereditary hemochromatosis (JHH) often leads to misdiagnosis and underdiagnosis br …