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Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis

Journal of Medical Genetics

Jun 1, 1979

A G WhitelawM A Crawfurd

PMID: 469896

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...read more

Mentioned in this Paper

Embryopathies
Antenatal Screening Procedures
Glycosylphosphatidylinositol Deficiency
Anasarca
GPI
Hemolytic Anemia, Nonspherocytic, DUE TO Glucose Phosphate Isomerase Deficiency
Anemia, Hemolytic, Congenital Nonspherocytic
Hydrops Fetalis
Alleles
Aminoacylase 1 Deficiency
Paper Details
References
  • References19
  • Citations11

Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis

Journal of Medical Genetics

Jun 1, 1979

A G WhitelawM A Crawfurd

PMID: 469896

DOI:

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...read more

Mentioned in this Paper

Embryopathies
Antenatal Screening Procedures
Glycosylphosphatidylinositol Deficiency
Anasarca
GPI
Hemolytic Anemia, Nonspherocytic, DUE TO Glucose Phosphate Isomerase Deficiency
Anemia, Hemolytic, Congenital Nonspherocytic
Hydrops Fetalis
Alleles
Aminoacylase 1 Deficiency

Related Papers

Paper Details
References
  • References19
  • Citations11
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