-transparent.png){kind=logo}
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.
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
March 1985,
The Journal of pediatrics,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
October 1989,
Lancet (London, England),
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
January 1990,
Lancet (London, England),
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
June 1980,
Journal of medical genetics,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
October 1998,
Human genetics,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
June 1963,
Proceedings of the Royal Society of Medicine,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
June 1994,
Harefuah,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
December 1973,
Klinische Wochenschrift,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
August 1997,
European journal of pediatrics,
A G Whitelaw, and
P A Rogers, and
D A Hopkinson, and
H Gordon, and
P M Emerson, and
J H Darley, and
C Reid, and
M A Crawfurd
September 1968,
The Journal of the Association of Physicians of India,
