May 1, 1983

Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia

Blut
H ArnoldI Witt

Abstract

In a 13-year-old German girl a GPI deficiency was found to be the cause of a chronic nonspherocytic hemolytic anemia with recurrent hemolytic crises. The hemolytic crises usually occurred after a feverish infection. Only once did the patient require blood transfusion during a crisis. Examination of the family indicated that the patient is doubly heterozygous for the deficiency. The investigation of the biochemical properties of the deficient enzyme revealed an altered electrophoretic migration, a pronounced thermolability, an increased affinity for G-6-P and slightly changed pH optima for both substrates. The described properties of the deficient GPI indicate that we are dealing with a new variant designated GPI-Kaiserlautern.

Mentioned in this Paper

Anemia, Hemolytic, Congenital
Glycosylphosphatidylinositol Deficiency
Fructosephosphates
Malnutrition
Isomerase
Anemia, Hemolytic, Congenital Nonspherocytic
Glucosephosphates
Genetic Carriers
Autocrine Motility Factor
Deficiency of glucose-6-phosphate Dehydrogenase

About this Paper

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