Sickle cell anaemia: progress in pathogenesis and treatment

Area of Science:

• Hematology
• Genetics
• Internal Medicine

Background:

• Sickle cell anaemia (SCA) exhibits significant phenotypic variability, impacting multiple life aspects.
• Clinical manifestations include anemia, pain crises, and organ failure.
• Pathogenesis involves deoxyhemoglobin S polymerization, cellular dehydration, inflammation, and reperfusion injury.

Purpose of the Study:

• To review the multifaceted clinical manifestations and management strategies for sickle cell anaemia.
• To highlight current palliative approaches and emerging curative therapies.

Main Methods:

• Review of recent studies on SCA pathogenesis.
• Analysis of current management strategies including supportive, symptomatic, and preventative therapies.
• Discussion of established and investigational curative treatments.

Main Results:

• Management remains largely palliative, emphasizing supportive care, pain management, blood transfusions, and organ failure treatment.
• Preventative strategies include penicillin prophylaxis, transfusions for stroke prevention, and hydroxyurea.
• Bone marrow/cord blood transplantation offers curative potential in select cases; gene therapy is investigational.

Conclusions:

• Effective sickle cell anaemia management requires a comprehensive approach addressing diverse clinical issues.
• Ongoing research into novel preventative and curative therapies, including gene therapy, holds promise for future treatment.
• Patient education and empowerment are crucial components of supportive care.