Membran- und Enzymdefekte der Erythrozyten können schwere, zum Teil chronisch transfusionsbedürftige Anämien verursachen und mit akut anämisierenden aplastischen Krisen einhergehen. Die exakte Kenntnis dieser Anämien ermöglicht eine patientenorientierte personale Therapie.
Abstract
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. Therapeutically, near complete splenectomy reduces hemolysis significantly for spherocytosis. The residual spleen at least provides a considerable phagocytic function and better response to immunisation and by inference possibly better protection against severe post-splenectomy infection. For pyruvate kinase deficiency, which is not so rare, a new molecular therapy (Mitapivat) is currently being introduced. In G6PD deficiency, there are very few drugs that cause hemolytic crisis. Sudden onset of hemoglobinuria is an early important hallmark of severe hemolytic crisis in G6PD deficiency and these patients should be hospitalized. Aplastic crises in the setting of parvovirus B19 infection occur in all congenital hemolytic anemias. Transfusion is not preventable in most cases. Iron-excreting treatment is required in the rare patients in need of chronic transfusion.
Schlüsselwörter
Hereditäre Sphärozytose - Hereditäre Elliptozytose - Hereditäre Stomatozytose - Pyruvatkinase-Mangel Pyrimidin-5’-Nucleotidase Mangel - Glucose-6-Phosphat-Dehydrogenase-Mangel
Key words
hereditary spherocytosis - hereditary ellipocytosis - hereditary stomatocytosis - pyruvate kinase deficiency - pyrimidin 5’-nucleotidase deficiency - G6PD deficiency
