Genetic haemochromatosis is a potentially serious iron overload disorder, yet there is a lack of awareness of the condition among the public and many healthcare professionals. In the UK, around one in 150 people have the genetic mutations that cause the condition, meaning that they are at increased risk of developing iron overload. If undiagnosed, prolonged iron overload can lead to liver, heart and endocrine failure and may be fatal; however, early diagnosis, treatment and maintenance can enable patients to have a normal lifespan. This article provides an overview of genetic haemochromatosis, including its types, origins, signs and symptoms, diagnosis, screening and treatment.
blood; blood disorders; cancer; clinical; ethical issues; genetic disorders; genetic testing; genetics; professional.
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