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Sickle hemoglobinopathies
1Colorado Sickle Cell Treatment and Research Center, University of Colorado Health Sciences Center, Denver 80262.
Insights
Neonatal screening and comprehensive care significantly reduce sickle hemoglobinopathy mortality. However, new research offers hope for better management of complications and potential curative therapies.
Area of Science:
- Hematology
- Pediatric Medicine
- Genetics
Background:
- Neonatal screening and comprehensive care, including penicillin prophylaxis and immunizations, have greatly decreased infant mortality from sickle hemoglobinopathies.
- Despite advances in understanding pathophysiology, current treatments inadequately prevent acute noninfectious complications (e.g., pain crises, strokes) and chronic organ damage.
Purpose of the Study:
- To review recent advancements in understanding sickle hemoglobinopathies.
- To highlight improvements in managing acute complications and the emergence of potentially curative therapies.
Main Methods:
- Review of recent publications on sickle hemoglobinopathies.
- Analysis of current therapeutic approaches and ongoing clinical trials.
Main Results:
- Increased knowledge of factors contributing to clinical heterogeneity in sickle hemoglobinopathies.
- Modest improvements in identifying and treating acute complications.
- Emerging hope for curative treatments, with ongoing trials for hydroxyurea and bone marrow transplantation.
Conclusions:
- While neonatal screening and supportive care have improved survival, significant challenges remain in managing disease complications.
- Recent research offers promising avenues for more effective treatments and potential cures for sickle hemoglobinopathies.
Abstract:
Neonatal screening for hemoglobinopathies, coupled with comprehensive medical care that includes parental education, prophylactic penicillin, and immunizations, has markedly reduced mortality from sickle hemoglobinopathies during infancy and early childhood. However, despite an increased knowledge of pathophysiology, current therapy does little to prevent acute, noninfectious complications such as anemic crises, pain events, or strokes; nor does it reliably prevent or delay the development of chronic organ damage. Recent publications have increased our understanding of factors that contribute to the clinical heterogeneity of sickle hemoglobinopathies, improved modestly our ability to identify and treat acute complications, and provided real hope for the development of potentially curative therapies. Prospective therapeutic trials of hydroxyurea and of bone marrow transplantation have recently begun.