Management of Sickle Cell Disease and Related Hemoglobinopathies
Summary
Sickle cell disease (SCD) and its related haemoglobinopathies represent a group of inherited disorders characterised by structurally abnormal or deficient globin chains. Management encompasses a spectrum of preventive, symptomatic and curative strategies. Early diagnosis through newborn screening allows prompt initiation of prophylactic antibiotics and immunisations, reducing infection‐related mortality. Hydroxyurea remains the mainstay pharmacotherapy, elevating fetal haemoglobin to diminish vaso-occlusive crises and chronic haemolysis. Regular red cell transfusion is employed to manage severe anaemia and prevent stroke, whereas iron chelation therapy mitigates iron overload from repeated transfusions. Supportive care includes pain management, hydration and psychosocial support. Curative approaches have advanced with haematopoietic stem cell transplantation offering long-term remission in selected patients; emerging gene therapies aim to correct the underlying β-globin mutation. Throughout, multidisciplinary teams address organ complications, quality of life and transitions from paediatric to adult care. Global disparities persist, driven by resource constraints, under-resourced health systems and lack of universal screening, underscoring the need for scalable public health policies and education programmes.
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Management of Sickle Cell Disease and Related Hemoglobinopathies publication trend
The graph below shows the total number of articles in management of sickle cell disease and related hemoglobinopathies across all publications each year (not limited to Nature Index journals).
Technical terms
Haemoglobinopathy: Hereditary disorder affecting the structure or production of haemoglobin molecules.
Vaso-occlusive crisis: Acute episodes of microvascular obstruction by sickled erythrocytes causing pain and tissue ischaemia.
Hydroxyurea: Pharmacological agent that induces fetal haemoglobin synthesis to reduce red cell sickling.
Iron chelation: Therapeutic removal of excess iron resulting from chronic blood transfusion to prevent organ damage.
Haematopoietic stem cell transplantation: Curative procedure replacing a patient’s defective bone marrow with healthy donor stem cells.
Gene therapy: Experimental treatment that corrects or compensates for the mutated β-globin gene at the molecular level.
Newborn screening: Early postnatal genetic testing for blood disorders to enable timely preventive care and intervention.
References
- Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000–2021: a systematic analysis from the Global Burden of Disease Study 2021. The Lancet Haematology (2023).
- The global burden of sickle cell disease in children under five years of age: a systematic review and meta-analysis. Journal of Global Health (2018).
- Global Burden of Sickle Cell Anaemia in Children under Five, 2010–2050: Modelling Based on Demographics, Excess Mortality, and Interventions. PLOS Medicine (2013).
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