Sickle cell disease in Germany: Results from a national registry

Abstract

Background Limited data on the prevalence and medical care of sickle cell disease (SCD) in Germany are available. Here, we make use of a patient registry to characterize the burden of disease and the treatment modalities for patients with SCD in Germany. Procedure A nationwide German registry for patients with SCD documents basic data on diagnosis and patient history retrospectively at the time of registration. A prospective annual documentation provides more details on complications and treatment of SCD. For the current analyses, data of 439 patients were available. Results Most patients had homozygous SCD (HbSS 75.1%, HbS/β‐thalassemia 13.2%, and HbSC 11.3%). The median age at diagnosis was 1.9 years (interquartile range, 0.6‐4.4 years), most patients were diagnosed when characteristic symptoms occurred. Sepsis and stroke had affected 3.2% and 4.2% of patients, respectively. During the first year of observation, 48.3% of patients were admitted to a hospital and 10.1% required intensive care. Prophylactic penicillin was prescribed to 95.6% of patients with homozygous SCD or HbS/β thalassemia below the age of six and hydroxycarbamide to 90.4% of patients above the age of two years. At least one annual transcranial Doppler ultrasound was documented for 74.8% of patients between 2 and 18 years. Conclusion With an estimated number of at least 2000, the prevalence of SCD in Germany remains low. Prospectively, we expect that the quality of care for children with SCD will be further improved by an earlier diagnosis after the anticipated introduction of a newborn screening program for SCD.

Varied Age of First Presentation of Sickle Cell Disease: Case Presentations and Review

“…Even in high-resource countries such as Belgium, universal newborn screening and prenatal counseling are not always performed. According to the German SCD registry, most children were discovered after the age of one year, usually by presenting with symptoms [ 14 , 15 ]. The median age at diagnosis of a cohort of children with SCD in the Netherlands was 25 months [ 16 ].…”

Makulopathie bei Sichelzellerkrankung

“…In Deutschland wird die aktuelle Prävalenz der SZE auf ca. 3000 geschätzt mit einer steigenden Tendenz durch Migranten aus Syrien, dem Irak und Zentralafrika [37,38].…”

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

“…The consortium also organizes case conferences to facilitate decision making. Finally, scientific projects were initiated, and the first data have recently been published [10,11].…”

“…The process was complemented by an independent literature search, expert hearings and two surveys among relevant medical and scientific societies. The decision benefitted from a European consensus statement and three epidemiological papers published in the crucial phase [2,[9][10][11]. One paper showed a significant increase of hospitalizations for SCD complications from a statistical analysis of health insurance data for the years 2007-2015 [11].…”

“…The author used an indirect approach since there is no statistical recording of non-malignant blood diseases in Germany. In addition, the first paper from the newly established German SCD registry strikingly demonstrated that 80% of SCD patients in Germany were diagnosed not only too late, but also after significant complications had already occurred [10]. These publications were clearly in favor of a positive decision on the NBS application [2,[9][10][11].…”