Sickle-cell disease

@article{Rees2010SicklecellD,
  title={Sickle-cell disease},
  author={David C. Rees and Thomas N. Williams and Mark T. Gladwin},
  journal={The Lancet},
  year={2010},
  volume={376},
  pages={2018-2031}
}
Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of this disease, although the importance of chronic anaemia, haemolysis, and vasculopathy has been established. Clinical management is basic and few treatments have a robust evidence base. One of the main problems of sickle-cell disease in children is the development of cerebrovascular disease and… Expand
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459 Citations
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459 Citations

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Pulmonary hypertension in adolescents with sickle cell disease
TLDR
With vaso-occlusion being the major complication in sickle cell disease and affecting many tissues and organs like the lungs, pulmonary hypertension has become a major risk factor in patients, especially in children. Expand
Diagnosis and management of sickle cell disorders.
TLDR
This chapter brings together a detailed etiology, pathophysiology, and clinical presentation of SCD, including the differential diagnoses of pain associated with the disease, with evidence-based recommendations for pain management and the potential impact of low-molecular weight heparin (LMWH). Expand
Liver damage and sickle cell disease: genotype relationship
TLDR
Male sex, SCA genotype, lower HbF, frequent transfusions, increased GGT values, and abnormal liver ultrasound and stiffness were identified as potentially early markers of sickle hepatopathy. Expand
Interventions for chronic kidney disease in people with sickle cell disease.
TLDR
The effectiveness of any intervention in preventing or reducing kidney complications or chronic kidney disease in people with SCD, including red blood cell transfusions, hydroxyurea and angiotensin-converting enzyme inhibitor (ACEI), either alone or in combination with each other is assessed. Expand
Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease.
TLDR
It is very uncertain whether long-term transfusions: reduce the risk of transient ischaemic attacks, Peto odds ratio, or increase quality of life across different outcomes according to GRADE methodology. Expand
Sickle Cell Disease: A Brief Update.
TLDR
Hematopoietic stem cell transplantation is the only cure available today, but is not feasible for the vast majority of people suffering from SCD. Expand
Vasculopathy and pulmonary hypertension in sickle cell disease.
TLDR
An overview of the pathobiology of hemolysis-mediated endothelial dysfunction and eDAMPs is provided and a summary of the present understanding of diagnosis and management of pulmonary hypertension in sickle cell disease is summarized, including a review of recent American Thoracic Society (ATS) consensus guidelines for risk stratification and management. Expand
Pulmonary complications in adult patients with sickle cell disease
TLDR
The present review comprises the following pulmonary complications of SCD: i) acute chest syndrome, ii) venous thromboembolus, iii) asthma, iv) respiratory dysfunction, v) respiratory disorders during sleeping, vi) pulmonary hypertension. Expand
Haemoglobinopathies and the rheumatologist.
TLDR
Rheumatologists need to be aware of the range of MSK complications, treatment challenges and the need for such patients to be managed as part of a dedicated multidisciplinary team alongside haematology. Expand
Sickle cell anemia: An update on diagnosis, management and prevention strategies
TLDR
Community based approach by providing availability of screening tests, & pre-marital and pre-pregnancy counselling should be initiated to reduce the disease burden in the society. Expand
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References

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TLDR
Clinical research reviewed includes pulmonary hypertension, which is emerging as a particularly deadly scourge of adults with any haemolytic anaemia, and newer insights into older, more established complications and treatments, such as red cell transfusions, the need for and use of iron chelation and avascular necrosis. Expand
Pathophysiology and treatment of stroke in sickle-cell disease: present and future
TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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