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Homozygous pyruvate kinase deficiency in Hong Kong ethnic minorities
Author(s) -
WEI D. C.,
CHAN L. C.,
LI A.
Publication year - 1992
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1992.tb02682.x
Subject(s) - medicine , pyruvate kinase , pyruvate kinase deficiency , ethnic group , consanguinity , population , pediatrics , environmental health , glycolysis , metabolism , sociology , anthropology
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.