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The figure shows a urine sample collected from a 27-year-old man undergoing treatment for haemochromatosis.
- List the causes of an orange urine.
- What are the properties of an ideal iron-chelating agent?
- Discuss the genetic defect recently found in hereditary haemochromatosis.
The causes of an orange urine are listed in boxFB1.
At the present time there is really only one useful drug − desferrioxamine. However, desferrioxamine suffers from the disadvantage that it is inactive by mouth and requires frequent administration to chelate iron accumulating due to transfusion regimens for conditions such as thalassaemia major. There has therefore been a great deal of research focused on the development of oral iron-chelating agents.1
The properties required of a good iron-chelating agent are listed in box FB2.
Hereditary haemochromatosis is inherited as an autosomal recessive trait. In 1996, a strong candidate gene for hereditary haemochromatosis was identified.2 Genetic analysis has identified the HFE gene, which encodes an HLA class 1-like molecule. A single base-pair mutation at position 282 (tyrosine→cysteine) has been found in the majority of patients thought to have haemochromatosis. The identification of the HFE gene provides a useful tool for the diagnosis of hereditary haemochromatosis and for further research on the heterozygotic state.
Haemoglobin in the urine of a patient with hereditary haemochromatosis.
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