Inherited haemochromatosis with C282Y mutation in a patient with alpha-thalassaemia: a treatment dilemma
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چکیده
منابع مشابه
A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
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BACKGROUND A severe form of iron overload with the clinicopathological features of haemochromatosis inherited in an autosomal dominant manner has been described in the Solomon Islands. The genetic basis of the disorder has not been identified. The disorder has similarities to type 4 haemochromatosis, which is caused by mutations in ferroportin1. AIMS The aims of this study were to identify th...
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Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
متن کاملHeterozygosity for the haemochromatosis mutation HFE C282Y is not a risk factor for angina.
T he incidence of cardiovascular disease increases progressively with age in men and is more common in younger men than in women of similar age. The difference in incidence of cardiovascular disease between the sexes diminishes in the elderly, as the incidence of female cardiovascular disease increases with age in post-menopausal females. This pattern coincides with that of iron stores; in men ...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2018
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-222700