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pubmed-article:7493563pubmed:abstractTextThree members of one family (mother, now aged 44 years; daughter, now aged 23 years, and son, now aged 19 years) have had chronic haemolytic anaemia since their infancy. All three have had several blood transfusions a year because of haemoglobin (Hb) concentrations as low as 5 g/dl due to intermittent increases in haemolysis. Despite an unclear diagnosis all three had splenectomies: their spleens had been enlarged to about 5-7 cm below the rib margin. After splenectomy their haemoglobin concentration rose to 9-12 g/dl and the previously raised reticulocyte count of 150-250/1000 rose further to 400-700/1000. None of the patients had symptoms other than a slight decrease in exercise tolerance. They were admitted to hospital for further evaluation. Physical examination was unremarkable except for slight jaundice and well healed splenectomy scar.lld:pubmed
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pubmed-article:7493563pubmed:articleTitle[Diagnosis of pyruvate kinase deficiency in the presence of an elevated reticulocyte count].lld:pubmed
pubmed-article:7493563pubmed:affiliationUniversitäts-Kinderklinik, Göttingen.lld:pubmed
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