Diagnosis and therapy of genetic haemochromatosis | 2017 BSG

Doenças Genéticas 2017

Summary

Genetic haemochromatosis (GH) is one of the most frequent genetic disorders found in Northern Europeans. GH is a con- dition caused by continued absorption of iron from the upper small intestine, despite normal, and then increased, total body iron. This leads to accumulation of iron in the tis- sues as the body has no means of getting rid of excess iron. In advanced disease, iron accumulation causes widespread tissue damage, including diabetes mellitus and cirrhosis. The disorder is inherited in autosomal recessive fashion. The gene involved lies close to the HLA-A region on chromosome 6. This updated guideline follows on from the previously pub- lished guideline commissioned by the British Committee for Standards in Haematology in February 2000 (Dooley & Wor- wood, 2000). This review and updated guidance coincides with the development of a separate guideline on the investi- gation and management of a raised serum ferritin, also com- missioned by the BSH guidelines committee.

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