Perspektive: Neugeborenen -screening auf Sichelzellkrankheiten in Deutschland

Zusammenfassung

Die Sichelzellkrankheit ist eine angeborene, nicht maligne Hämoglobin-Erkrankung, die unerkannt mit einer hohen Morbidität und Mortalität im Säuglings- und Kleinkindesalter verbunden ist. Durch vergleichsweise einfache prophylaktische Maßnahmen können die meisten gravierenden Komplikationen jedoch vermieden werden. Eine frühzeitige Diagnose, im Idealfall bei Geburt, sollte daher unbedingt angestrebt werden. In vielen Ländern der Welt werden bereits alle Neugeborenen auf biochemische Zeichen einer Sichelzellkrankheit untersucht und bei Indikation weiterer Diagnostik zugeführt. In Deutsch-land gibt es derzeit intensive Bestrebungen, die Sichelzellkrankheit in das Neugeborenenscreeningprogramm zu integrieren.

Summary

Sickle-cell disease is an inherited, non-malignant disorder of hemoglobin. It is associated with high morbidity and mortality in infancy and childhood if not recognized early. However, very simple prophylactic measures may help to prevent the majority of serious complications. Thus, it is desirable to make the diagnosis of SCD early, ideally at birth. Consequently, several countries are testing all newborns for biochemical signs of SCD and, if indicated, more sophisticated diagnostic methods are applied. In Germany, there are currently intensive and constant efforts to integrate SCD into the national newborn screening program.

Schlüsselwörter

Sichelzellkrankheit - Neugeborenenscreening - Register - Leitlinie

Keywords

Sickle cell disease - newborn screening - register - guideline

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