Apr 15, 1977

Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn

Klinische Wochenschrift
W Schröter, W Tillmann

Abstract

The deficient red cell enzyme glucosephosphate isomerase (GPI) was characterized in a patient of German origin who had already been described, with congenital nonspherocytic hemolytic anemia, and in his heterozygous parents. The variant enzyme differs from the known GPI variant enzyme differs from the known GPI variants by the electrophoretic mobility, the thermal stability, and the leukocyte activity. No differences are found between normal GPI and the variant regarding the affinity to fructose-6-phosphate, the pH optimum and the thermal optimum. Since the electrophoretic pattern and the properties of the parenteral GPI are identical the propositus seems to be homozygous for an abnormal allele and not double-heterozygous as some other cases with GPI deficiency are. Recently, immunological studies have shown that the variant differs from other similar variants. According to the birthplace of the patient the variant is called "Paderborn".

Mentioned in this Paper

Glycosylphosphatidylinositol Deficiency
Leukocytes
GPI
Anemia, Hemolytic, Congenital Nonspherocytic
Erythrocytes
Deficiency of glucose-6-phosphate Dehydrogenase
Electrophoresis, Starch Gel
Variation (Genetics)

About this Paper

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Synthetic Genetic Array Analysis

Synthetic genetic arrays allow the systematic examination of genetic interactions. Here is the latest research focusing on synthetic genetic arrays and their analyses.

Epigenetic Memory

Epigenetic memory refers to the heritable genetic changes that are not explained by the DNA sequence. Find the latest research on epigenetic memory here.

Bone Marrow Neoplasms

Bone Marrow Neoplasms are cancers that occur in the bone marrow. Discover the latest research on Bone Marrow Neoplasms here.