Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives

Bibliographic Details
Title: Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives
Authors: Carmen Aramayo-Singelmann, Susan Halimeh, Pia Proske, Abinuja Vignalingarajah, Holger Cario, Morten O. Christensen, Raina Yamamoto, Alexander Röth, Dirk Reinhardt, Hans Christian Reinhardt, Ferras Alashkar
Source: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Publisher Information: Nature Portfolio, 2022.
Publication Year: 2022
Collection: LCC:Medicine
LCC:Science
Subject Terms: Medicine, Science
More Details: Abstract This monocentric study conducted at the Pediatric and Adult Hemoglobinopathy Outpatient Units of the University Hospital of Essen summarizes the results of hemoglobinopathies diagnosed between August 2018 and September 2021, prior to the introduction of a general newborn screening (NBS) for SCD in Germany (October 2021). In total, 339 patients (pts.), 182 pediatric [50.5% males (92/182)] and 157 adult pts. [75.8% females (119/157)] were diagnosed by molecular analysis. The most common (parental) descent among affected pts. were the Middle Eastern and North African/Turkey (Turkey: 19.8%, Syria: 11.8%, and Iraq: 5.9%), and the sub-Saharan African region (21.3%). Median age at diagnosis in pediatric carriers [N = 157; 54.1% males (85/157)] was 6.2 yrs. (range 1 (months) mos.–17.8 yrs.) and 31 yrs. (range 18–65 yrs.) in adults [N = 53; 75.2% females (115/153)]. Median age at diagnosis of homozygous or compound-heterozygous disease in pediatric pts. (72% (18/25) females) was 3.7 yrs., range 4 mos.–17 yrs. (HbSS (N = 13): 2.5 yrs., range 5 mos.–7.8 yrs.; HbS/C disease (N = 5): 8 yrs., range 1–8 yrs.; homozygous/compound heterozygous β-thalassemia (N = 5): 8 yrs., range 3–13 yrs.), in contrast to HbH disease (N = 5): 18 yrs. (median), range 12–40 yrs. Hemoglobinopathies represent a relevant health problem in Germany due to immigration and late diagnosis of second/third generation migrants. SCD-NBS will accelerate diagnosis and might result in reduction of disease-associated morbidity. However, diagnosis of carriers and/or disease-states (i.e. thalassemic syndromes) in newly immigrated and undiagnosed patients will further be delayed. A first major step has been taken, but further steps are required.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2045-2322
Relation: https://doaj.org/toc/2045-2322
DOI: 10.1038/s41598-022-13751-8
Access URL: https://doaj.org/article/480ec62d89f545deb4998a9367fae3cc
Accession Number: edsdoj.480ec62d89f545deb4998a9367fae3cc
Database: Directory of Open Access Journals
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More Details
ISSN:20452322
DOI:10.1038/s41598-022-13751-8
Published in:Scientific Reports
Language:English