title: Homozygous pyruvate kinase deficiency in Hong Kong ethnic minorities.
abstract: Three cases of pyruvate kinase (PK) deficiency resulting in congenital haemolytic anaemia with transfusion dependency are described. These cases resulted from consanguineous marriages in non-Han Chinese and include a pair of twins. We believe this to be the first documentation of homozygous PK deficiency in the Hong Kong population. The diagnosis was masked due to transfusion dependency in each case stressing the need to take a sample of pretransfusion blood for PK enzyme assay, and for family studies, when this disorder is suspected.
authors.affiliation: Department of Pathology, University of Hong Kong, Queen Mary Hospital.
authors.forename: D C
authors.initials: DC
authors.lastname: Wei
authors.forename: L C
authors.initials: LC
authors.lastname: Chan
authors.forename: A
authors.initials: A
authors.lastname: Li
mesh_terms: D000743:Anemia, Hemolytic / Q000209:etiology; D001803:Blood Transfusion; D003241:Consanguinity; D004200:Diseases in Twins; D004912:Erythrocytes / Q000201:enzymology*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006723:Hong Kong; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics
chemical_list: D011770:Pyruvate Kinase