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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 D Crawfurd

PMID: 469896

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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

Aminoacylase 1 Deficiency
Glycosylphosphatidylinositol Deficiency
Anemia, Hereditary Spherocytic Hemolytic
Anemia, Hemolytic, Congenital Nonspherocytic
Anasarca
Heterozygote Detection
Hemolytic Anemia, Nonspherocytic, DUE TO Glucose Phosphate Isomerase Deficiency
Variation (Genetics)
Embryopathies
Alleles
Paper Details
References
  • References19
  • Citations9
12

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 D 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

Aminoacylase 1 Deficiency
Glycosylphosphatidylinositol Deficiency
Anemia, Hereditary Spherocytic Hemolytic
Anemia, Hemolytic, Congenital Nonspherocytic
Anasarca

Related Papers

Paper Details
References
  • References19
  • Citations9
12

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