Inherited Blood Disorders
Molecular characterization of hemoglobin has enabled a deeper understanding of pathogenesis and the development of therapeutic options. Mutations in globin genes disrupt transcription, splicing, and protein stability, leading to functional disorders. Standard measures such as transfusions, iron chel...
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| Formato: | Online |
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| Idioma: | inglês |
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IntechOpen
2026
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| Acesso em linha: | https://directory.doabooks.org/handle/20.500.12854/171905 |
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| description | Molecular characterization of hemoglobin has enabled a deeper understanding of pathogenesis and the development of therapeutic options. Mutations in globin genes disrupt transcription, splicing, and protein stability, leading to functional disorders. Standard measures such as transfusions, iron chelation, and replacement of coagulation factors remain necessary but symptomatic. The development of gene therapies and genome-editing technologies (e.g., CRISPR/Cas9) opens the possibility of causal treatment. Diagnostic approaches have advanced considerably. Classical methods, including hemoglobin electrophoresis, HPLC, and isoelectric focusing, remain fundamental but are increasingly complemented by genomic technologies such as next-generation sequencing, which enables early diagnosis, mutation profiling, and prenatal screening. In the treatment of sickle cell anemia, new drugs have been introduced that reduce vaso-occlusive crises and stabilize patients. Hematopoietic stem cell transplantation remains the only established curative option, though it is limited by donor availability and associated risks. In β-thalassemia, molecular diagnostics and optimization of iron metabolism significantly improve prognosis, while nutritional support is becoming an important part of personalized care. Technological advances, including automated analyzers and digital platforms, further strengthen diagnostic precision. In obstetrics, multidisciplinary approaches enhance the management of postpartum hemorrhage, which remains the leading cause of maternal mortality worldwide. |
| format | Online |
| id | doab-20.500.12854ir-171905 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2026 |
| publishDateRange | 2026 |
| publishDateSort | 2026 |
| publisher | IntechOpen |
| publisherStr | IntechOpen |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1719052026-02-12T17:25:28Z Inherited Blood Disorders Zupančić Šalek, Silva Medical / Hematology thema EDItEUR::M Medicine and Nursing::MJ Clinical and internal medicine::MJF Haematology Molecular characterization of hemoglobin has enabled a deeper understanding of pathogenesis and the development of therapeutic options. Mutations in globin genes disrupt transcription, splicing, and protein stability, leading to functional disorders. Standard measures such as transfusions, iron chelation, and replacement of coagulation factors remain necessary but symptomatic. The development of gene therapies and genome-editing technologies (e.g., CRISPR/Cas9) opens the possibility of causal treatment. Diagnostic approaches have advanced considerably. Classical methods, including hemoglobin electrophoresis, HPLC, and isoelectric focusing, remain fundamental but are increasingly complemented by genomic technologies such as next-generation sequencing, which enables early diagnosis, mutation profiling, and prenatal screening. In the treatment of sickle cell anemia, new drugs have been introduced that reduce vaso-occlusive crises and stabilize patients. Hematopoietic stem cell transplantation remains the only established curative option, though it is limited by donor availability and associated risks. In β-thalassemia, molecular diagnostics and optimization of iron metabolism significantly improve prognosis, while nutritional support is becoming an important part of personalized care. Technological advances, including automated analyzers and digital platforms, further strengthen diagnostic precision. In obstetrics, multidisciplinary approaches enhance the management of postpartum hemorrhage, which remains the leading cause of maternal mortality worldwide. 2026-02-12T17:25:24Z 2026-02-12T17:25:24Z 2025 book 9781836342748 9781836342755 9781836342762 https://directory.doabooks.org/handle/20.500.12854/171905 eng image/jpeg n/a https://www.intechopen.com/books/1004133 https://intech-files.s3.amazonaws.com/a04Tc000003OXaeIAG/0016037_Authors_Book%20%282025-10-23%2008%3A32%3A06%29.pdf IntechOpen IntechOpen 10.5772/intechopen.1004471 10.5772/intechopen.1004471 78a36484-2c0c-47cb-ad67-2b9f5cd4a8f6 9781836342748 9781836342755 9781836342762 IntechOpen 166 open access |
| spellingShingle | Medical / Hematology thema EDItEUR::M Medicine and Nursing::MJ Clinical and internal medicine::MJF Haematology Inherited Blood Disorders |
| title | Inherited Blood Disorders |
| title_full | Inherited Blood Disorders |
| title_fullStr | Inherited Blood Disorders |
| title_full_unstemmed | Inherited Blood Disorders |
| title_short | Inherited Blood Disorders |
| title_sort | inherited blood disorders |
| topic | Medical / Hematology thema EDItEUR::M Medicine and Nursing::MJ Clinical and internal medicine::MJF Haematology |
| topic_facet | Medical / Hematology thema EDItEUR::M Medicine and Nursing::MJ Clinical and internal medicine::MJF Haematology |
| url | https://directory.doabooks.org/handle/20.500.12854/171905 |