Genetics and therapeutic approaches for sickle cell disease

Tripath, Vaibhav; Kumar Nema, Rajesh; Kujur, Adeep

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DOI 10.18231/j.jpbs.2025.008
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Genetics and therapeutic approaches for sickle cell disease

Author Details:

Vaibhav Tripath

Rajesh Kumar Nema

Adeep Kujur ^*

Journal of Pharmaceutical and Biological Sciences. 13(1):45-55, 2025. | 10.18231/j.jpbs.2025.008

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Sickle cell disease (SCD) is an inherited blood disorder characterized by hemolytic anemia, vaso-occlusive crises, relentless end-organ injury, and premature death. Currently, red blood cell transfusion and hydroxyurea are the major disease-modifying therapies available for SCD. Hematopoetic stem cell transplant is curative, but barriers to treatment are substantial and include a lack of suitable donors, immunologic transplant rejection, long-term adverse effects, prognostic uncertainty, and poor end-organ function, which is especially problematic for older patients. Gene therapy to correct the bs point mutation is under investigation as another curative modality. Deeper insights into the pathophysiology of SCD have led to the development of novel agents that target cellular adhesion, inflammation, oxidant injury, platelets and/or coagulation, vascular tone, and hemoglobin polymerization. These agents are in preclinical and clinical trials. One such agent, L-glutamine, decreases red blood cell oxidant injury and is recently US Food and Drug Administration approved to prevent acute pain episodes of SCD in patients 5 years of age or older affecting the shape and movement of red blood cells in blood vessels, causing various health issues. However, a bright ray of hope involving research into anti-sickling properties of medicinal plants has been rewarding. This alternative therapy using phyto-medicines has proven to not only reduce crisis but also reverse sickling (in vitro). The paper mainly looks into treatment approaches such as conventional treatment strategy and genetic therapies. Furthermore, the paper communicates a comprehensive demographical understanding of the SCD in India. Additionally, the paper discusses the growing interest in using medicinal plants and nutrition to manage SCD, highlighting the significant benefits of phyto-medicine and on-going future research for the advancement of therapeutic approaches of existing therapy for SCD.

Keywords: Sickle cell anaemia, Conventional treatment, Gene therapy, Herbal treatment, On-going future research.

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Journal of Pharmaceutical and Biological Sciences

Genetics and therapeutic approaches for sickle cell disease

Author Details: Vaibhav Tripath Rajesh Kumar Nema Adeep Kujur *

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Author Details:

Vaibhav Tripath

Rajesh Kumar Nema

Adeep Kujur ^*