Article
Phenotypic and clinical manifestations of compound heterozygous genetic haemochromatosis (CHGH): a non-invasive approach to clinical management.
Internal medicine journal - 1 Mar 2013
Ramakrishna R, Gupta S, Sarathy K, Bowen A
Abstract excerpt
BACKGROUND: The role of compound heterozygous genetic haemochromatosis (CHGH) (C282Y/H63D) mutations in the manifestations of iron overload is known; however, the extent of these manifestations and their associated management remain unclear. AIMS: This study evaluates the phenotypic manifestations of CHGH using laboratory and radiological biomarkers including serum ferritin/transferrin saturation, liver function...
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