A Swedish family with alpha 1-antitrypsin deficiency, haemochromatosis, haemoglobinopathy D and early death in liver cirrhosis.
We report a unique family with chronic liver disease associated with three different inborn errors, alpha 1-antitrypsin deficiency, hereditary haemochromatosis and haemoglobinopathy Hb-D Punjab. The probability of acquiring these three rare genes is less than 1/10(9). In one generation 4 of 5 individuals have died of liver failure between 51 and 63 years of age.
D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D019896:alpha 1-Antitrypsin Deficiency
D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab