Dual diagnoses of hereditary hyperferritinaemia-cataract syndrome and hereditary haemochromatosis.
A 30-year-old woman was found to have hyperferritinaemia after presenting with menorrhagia and lethargy. Serum iron studies did not confirm iron overload. Further investigations revealed two distinct genetic mutations of iron haemostasis--homozygosity for C282Y mutation of the HFE gene on chromosome 6 and heterozygosity for A40G mutation in the iron response element of ferritin light chain on chromosome 19. These mutations are responsible for the diseases hereditary haemochromatosis (autosomal recessive) and hereditary hyperferritinaemia-cataract syndrome (autosomal dominant) respectively. This is the first description of such a patient.
Hughes
M
M
Department of Haematology, NHS Ayrshire and Arran (Ayr Hospital), Ayr, UK. marie@hughes1.co.uk
Vosylius
P
P
D000328:Adult; D001052:Apoferritins; D002386:Cataract / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood / Q000737:chemistry / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000150:complications / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome
C507433:FTL protein, human; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005293:Ferritins; D001052:Apoferritins