About one quarter of older men who were homozygous for the HFE C282Y mutation had clinically evident disease. Most clinical cases of hereditary hemochromatosis occur in people who are homozygous for ...
Bernard–Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is ...