Academic Journal
Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives
| 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 |
| Full text is not displayed to guests. | Login for full access. |
| ISSN: | 20452322 |
|---|---|
| DOI: | 10.1038/s41598-022-13751-8 |
| Published in: | Scientific Reports |
| Language: | English |