Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis. Issue 3 (June 1979)

• Record Type: Journal Article
• Authors: Whitelaw, A G; Rogers, P A; Hopkinson, D A; Gordon, H; Emerson, P M; Darley, J H; Reid, C; Crawfurd, M A
• Is Part Of: Journal of medical genetics. Volume 16:Issue 3(1979)
• Page Start: 189
• Page End: 196
• Publication Date: 1979-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.16.3.189
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a 'compound' heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a 'compound' heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.