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[Congenital hemolytic anemias due to erythrocyte membrane and enzyme defects].
Dtsch Med Wochenschr
September 2022
Erythrocyte membrane and enzyme defects are the most common cause of congenital hemolytic anemias in the Central European population. Diagnostics include erythrocyte morphology, special biochemical tests such as osmotic fragility (AGLT) and EMA. For enzymopenic hemolytic anemias, cost-effective biochemical analysis remains the gold standard, supplemented by molecular genetic diagnostics when appropriate.
View Article and Find Full Text PDF[The appearance of a PNH clone during enzymopenic hemolytic anemia].
Clin Ter
April 1992
Sezione Aggregata di Oncologia, Ospedale Civile di Sampierdarena.
Absence of phosphorylation-induced gelation of erythrocyte membrane skeletons: a diagnostic tool for hereditary spherocytosis.
Ann Hematol
February 1992
Department of Pediatrics, University of Göttingen, Federal Republic of Germany.
As yet there is no single test specific for the diagnosis of hereditary spherocytosis. In the search for a specific test, a method described by Pinder et al. [14] using a cAMP-independent protein kinase extracted from normal erythrocyte membranes was used.
View Article and Find Full Text PDFEnzymopenic haemolytic anaemias are rare diseases in which there is an excess iron turnover. The iron is mainly deposited in many tissues giving rise to fibrosis and tissue damage. There is always a specific arthropathy; by involving a number of joints at the same time the clinical picture may resemble active rheumatoid arthritis, and therefore an erroneous treatment with gold, chloroquine, D-penicillamine or corticosteroids is possible.
View Article and Find Full Text PDFOn the basis of the hypothesis that in the regions where favism is present a high correlation exists between endemic malaria and the frequency of G-6-PD deficiency, Huheey and Martin (1975) in a recent paper suggest that the haemolytic event in a malarial environment is a favourable selective factor. Therefore, the fitness of the G-6-PD-deficient individual who shows haemolysis is higher than that of those who do not show haemolysis. Modiano (1976) also suggested that haemolysis may not be a negative component of the selective forces which act on the G-6-PD-deficient variants.
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