A perspective on the genesis, diagnostics, and management of sickle cell disease
Abstract Background Hemoglobinopathies, including sickle cell disease (SCD), have been recognized as a major health problem globally. SCD is caused by a mutation in the GAG codon that converts glutamate to valine, resulting in sickle hemoglobin (HbS) and various clinical symptoms. Main body An estim...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2024-12-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-024-00623-1 |
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| author | Md Samim Hassan Taslima Nasrin Ajay Mahalka Mehboob Hoque Safdar Ali |
| author_facet | Md Samim Hassan Taslima Nasrin Ajay Mahalka Mehboob Hoque Safdar Ali |
| author_sort | Md Samim Hassan |
| collection | DOAJ |
| description | Abstract Background Hemoglobinopathies, including sickle cell disease (SCD), have been recognized as a major health problem globally. SCD is caused by a mutation in the GAG codon that converts glutamate to valine, resulting in sickle hemoglobin (HbS) and various clinical symptoms. Main body An estimated 300,000 new-borns are diagnosed with SCD every year which makes it a very important clinical manifestation to study. The present review aims to comprehensively explore the pathophysiology, diagnostics, and management approaches for populations affected by sickle cell disease. Different genetic forms of SCDs are also mentioned in this review. Short conclusion HbS polymerization contributes to the overall pathophysiological process of SCD. Several treatment options are available, though the US Food and Drug Administration-approved low-toxicity medication hydroxyurea is commonly used to treat SCD complications. Besides, hemopoietic stem cell transplantation and gene therapy are also two potential curative approaches. For SCD management, genetic counseling and neonatal screening at different stages play a crucial role. |
| format | Article |
| id | doaj-art-f4021c6eb94c4a94a781fc8047ee61b2 |
| institution | Kabale University |
| issn | 2090-2441 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-f4021c6eb94c4a94a781fc8047ee61b22024-12-22T12:29:49ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412024-12-0125111110.1186/s43042-024-00623-1A perspective on the genesis, diagnostics, and management of sickle cell diseaseMd Samim Hassan0Taslima Nasrin1Ajay Mahalka2Mehboob Hoque3Safdar Ali4Clinical and Applied Genomics (CAG) Laboratory, Department of Biological Sciences, Aliah UniversityClinical and Applied Genomics (CAG) Laboratory, Department of Biological Sciences, Aliah UniversityNagarmal Modi SewaSadanApplied Biochemistry Laboratory, Department of Biological Sciences, Aliah UniversityClinical and Applied Genomics (CAG) Laboratory, Department of Biological Sciences, Aliah UniversityAbstract Background Hemoglobinopathies, including sickle cell disease (SCD), have been recognized as a major health problem globally. SCD is caused by a mutation in the GAG codon that converts glutamate to valine, resulting in sickle hemoglobin (HbS) and various clinical symptoms. Main body An estimated 300,000 new-borns are diagnosed with SCD every year which makes it a very important clinical manifestation to study. The present review aims to comprehensively explore the pathophysiology, diagnostics, and management approaches for populations affected by sickle cell disease. Different genetic forms of SCDs are also mentioned in this review. Short conclusion HbS polymerization contributes to the overall pathophysiological process of SCD. Several treatment options are available, though the US Food and Drug Administration-approved low-toxicity medication hydroxyurea is commonly used to treat SCD complications. Besides, hemopoietic stem cell transplantation and gene therapy are also two potential curative approaches. For SCD management, genetic counseling and neonatal screening at different stages play a crucial role.https://doi.org/10.1186/s43042-024-00623-1HemoglobinSickle cell disease (SCD)MutationDiagnosticsManagement |
| spellingShingle | Md Samim Hassan Taslima Nasrin Ajay Mahalka Mehboob Hoque Safdar Ali A perspective on the genesis, diagnostics, and management of sickle cell disease Egyptian Journal of Medical Human Genetics Hemoglobin Sickle cell disease (SCD) Mutation Diagnostics Management |
| title | A perspective on the genesis, diagnostics, and management of sickle cell disease |
| title_full | A perspective on the genesis, diagnostics, and management of sickle cell disease |
| title_fullStr | A perspective on the genesis, diagnostics, and management of sickle cell disease |
| title_full_unstemmed | A perspective on the genesis, diagnostics, and management of sickle cell disease |
| title_short | A perspective on the genesis, diagnostics, and management of sickle cell disease |
| title_sort | perspective on the genesis diagnostics and management of sickle cell disease |
| topic | Hemoglobin Sickle cell disease (SCD) Mutation Diagnostics Management |
| url | https://doi.org/10.1186/s43042-024-00623-1 |
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