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
