Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives
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...
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| Format: | Article |
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Nature Portfolio
2022-06-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-022-13751-8 |
| _version_ | 1818236914311888896 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Carmen Aramayo-Singelmann |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T12:17:26Z |
| format | Article |
| id | doaj.art-480ec62d89f545deb4998a9367fae3cc |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-12T12:17:26Z |
| publishDate | 2022-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-480ec62d89f545deb4998a9367fae3cc2022-12-22T00:24:45ZengNature PortfolioScientific Reports2045-23222022-06-011211910.1038/s41598-022-13751-8Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectivesCarmen Aramayo-Singelmann0Susan Halimeh1Pia Proske2Abinuja Vignalingarajah3Holger Cario4Morten O. Christensen5Raina YamamotoAlexander Röth6Dirk Reinhardt7Hans Christian Reinhardt8Ferras Alashkar9Department of Pediatrics III, University Children’s Hospital Essen, University of Duisburg-EssenDepartment of Pediatrics III, University Children’s Hospital Essen, University of Duisburg-EssenDepartment of Hematology and Stem Cell Transplantation, West German Cancer Center, University Hospital Essen, University of Duisburg-EssenDepartment of Pediatrics III, University Children’s Hospital Essen, University of Duisburg-EssenDepartment of Pediatrics and Adolescent Medicine, University Medical Center UlmCoagulation Center Rhein-RuhrDepartment of Hematology and Stem Cell Transplantation, West German Cancer Center, University Hospital Essen, University of Duisburg-EssenDepartment of Pediatrics III, University Children’s Hospital Essen, University of Duisburg-EssenDepartment of Hematology and Stem Cell Transplantation, West German Cancer Center, University Hospital Essen, University of Duisburg-EssenDepartment of Hematology and Stem Cell Transplantation, West German Cancer Center, University Hospital Essen, University of Duisburg-EssenAbstract 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.https://doi.org/10.1038/s41598-022-13751-8 |
| spellingShingle | 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 Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives Scientific Reports |
| title | Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives |
| title_full | Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives |
| title_fullStr | Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives |
| title_full_unstemmed | Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives |
| title_short | Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives |
| title_sort | screening and diagnosis of hemoglobinopathies in germany current state and future perspectives |
| url | https://doi.org/10.1038/s41598-022-13751-8 |
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