Grundlagen und Besonderheiten der Transfusionstherapie bei Hämoglobinopathien

Zusammenfassung

Die Thalassämien und die Sichelzellkrankheit gehören zu den häufigsten monogen vererbten Erkrankungen weltweit. In Deutschland und Mitteleuropa sind sie hingegen selten; es sind nahezu ausschließlich Menschen mit Migrationshintergrund davon betroffen. Die Transfusion von Erythrozytenkonzentraten ist zentraler Bestandteil der Therapie beider Krankheitsgruppen. Dabei bestehen grundlegende Unterschiede hinsichtlich Ziel, Indikation und Durchführung der transfusionsmedizinischen Behandlung. Während bei der Thalassaemia major die regelmäßige Transfusionstherapie mit dem Ziel der weitestgehenden Unterdrückung der Eigenerythropoese essenziell ist, bestehen bei der Sichelzellkrankheit nur wenige, ausgewählte Indikationen für eine regelmäßige Transfusions- bzw. Austauschtransfusionstherapie, die dort vor allem das Ziel hat, den HbS-Anteil (HbS: Sichelzellenhämoglobin) niedrig zu halten, um Komplikationen, insbesondere ZNS-Infarkte (ZNS: Zentralnervensystem), zu vermeiden. Im Gegensatz zur Thalassämie gibt es bei der Sichelzellkrankheit Indikationen für ereignisbezogene Einzel- oder Austauschtransfusionen, z. B. bei Milzsequestrationskrise und bei akutem Thoraxsyndrom. Sowohl bei den Thalassämien als auch bei der Sichelzellkrankheit spielen Allo- und Autoimmunisierung gegen erythrozytäre Antigene eine wichtige Rolle, sodass die erweiterte Untersuchung von Blutgruppenantigenen und die Auswahl entsprechend kompatibler Erythrozytenkonzentrate von Beginn der Transfusionstherapie an von großer Bedeutung sind.

Key words

Thalassämie - Sichelzellkrankheit - Hämoglobinopathie - Transfusion - Austauschtransfusion - Erythrozytapherese - Eisenüberladung - Hämochromatose

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