Hereditary haemochromatosis (HH)
Evidence-based neurology checklist on hereditary haemochromatosis (hh): Genetic types: Type 1: this is caused by mutations in the haemochromatosis (HFE) gene Type 2A: this is caused by mutations in the hemojuvelin (HJV) gene Type 2B: this is caused by mutations in the hepcidin (HAMP) gene Type 3:…
Genetic types:
- Type 1: this is caused by mutations in the haemochromatosis (HFE) gene
- Type 2A: this is caused by mutations in the hemojuvelin (HJV) gene
- Type 2B: this is caused by mutations in the hepcidin (HAMP) gene
- Type 3: this is caused by mutations in the transferrin receptor 2 (TFR2) gene
- Type 4: this is caused by mutations in the ferroportin (SLC40A1) gene
Systemic features
Movement disorders
Peripheral neurological features: case reports
Cognitive features
Brain imaging features
Treatment
References
- Zhang W, Lv T, Huang J, Ou X. Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: a case report and a review of the literature. Medicine (Baltimore) 2017; 96:e8064.
- Santos PC, Krieger JE, Pereira AC. Molecular diagnostic and pathogenesis of hereditary hemochromatosis. Int J Mol Sci 2012; 13:1497-511.
- Costello DJ, Walsh SL, Harrington HJ, Walsh CH. Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series. JNNP 2004; 75:631-633.
- Kumar N, Rizek P, Sadikovic B, Adams PC, Jog M. Movement disorders associated with hemochromatosis. Can J Neurol Sci 2016; 43:801-808.
- Rosana A, La Rosa L. A case of hereditary haemochromatosis in a patient with extrapyramidal syndrome. Blood Transfus 2007; 5:241-243.
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