Neugeborenenscreening auf Sichelzellkrankheit

ZUSAMMENFASSUNG

Die Sichelzellkrankheit (SCD) ist eine schwere angeborene Bluterkrankung, die mit einer hohen Morbidität und Mortalität im Säuglings- und Kleinkindalter einhergeht, wenn sie noch nicht diagnostiziert worden ist. Kritisch sind insbesondere fulminante bakterielle Infektionen im Rahmen der krankheitstypischen Hyposplenie sowie akute Verschlechterungen der im Intervall stabilen Anämie. Mit sehr einfachen Maßnahmen (Schulung, Impfung und Penicillin-Prophylaxe) lässt sich ein Großteil der schweren Komplikationen vermeiden. Da die Erkrankung schon bei Geburt sehr einfach und sehr zuverlässig aus Trockenblut diagnostizierbar ist und zudem inzwischen ein gutes therapeutisches Konzept existiert, gibt es eine gute Rationale für ein Neugeborenenscreening (NBS). International werden Neugeborene teilweise schon seit den frühen 1970er-Jahren auf die SCD untersucht. Das flächendeckende NBS in Deutschland hat am 1. Oktober 2021 begonnen. Dieser Artikel gibt Ihnen einen Überblick über die neue Zielkrankheit.

ABSTRACT

Sickle cell disease (SCD) is a severe inherited blood disease and associated with significant morbidity and mortality in infancy and early childhood if still undiagnosed. Fulminant bacterial infections secondary to typical hyposplenia as well as acute worsening of anemia are most critical. Very easy measures (education, vaccination, and penicillin prophylaxis) are capable of virtually eliminating these severe complications. SCD can be diagnosed reliably at birth with very simple methods from dried blood spots. Since there is also a reasonable therapeutic strategy in place, there is a good rationale for newborn screening (NBS). Some countries have started to test newborns for SCD as early as the 1970 s. In Germany, NBS for SCD started on 1 October 2021. This article will give you an overview about the new target disease.

Schlüsselwörter

Sichelzellkrankheit - Hämoglobinopathien - Blutkrankheit - Neugeborenenscreening

Keywords

Sickle cell disease - hemoglobinopathies - blood disease - newborn screening

Publication History

Received: 02 July 2021

Accepted: 20 July 2021

Article published online:
25 February 2022

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