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The purpose of this research timeline is to explore the history, prevalence, and effects of Sickle Cell Disease (SCD) so that treatments and possible future experiments or cures may be discussed. In SCD, abnormal red blood cells appear as sickle shaped as opposed to the round shape of normal red blood cells. It is inherited in an autosomal recessive pattern, so an individual must inherit two copies of the allele. The gene mutation is a single nucleotide mutation in the gene which codes for β-globin. In 1910, James B. Herrick first described the disease, and in 1949, its inheritance pattern was determined. It can cause an array of complications due to the loss of blood cells and restricted blood flow. Carriers with only one copy of the disease-causing allele exhibit sickle cell trait, which does not result in the same severe symptoms that sickle cell disease does. SCD is prevalent in areas stricken by malaria, as sickle cell trait confers some resistance to the pathogen. The social impacts of SCD are majorly based on financial costs and quality of life. Patients also suffer from physiological and psychological impacts. Treatments are divided into three parts: supportive care therapies such as fever management, disease-modifying therapies such as the medicine Hydroxyurea, and blood transfusion. Future research on SCD is based on improving and finding new curative therapies to completely cure SCD such as Hematopoietic stem cell transplant and gene therapy.

Publication Date

Spring 2021

Language

English

Keywords

Sickle cell; Complications; History; Treatments

Disciplines

Genetics

File Format

pdf

File Size

356 KB

Comments

Faculty Mentor: Kathryn Rafferty, Ph.D.

Study of Sickle Cell Disease


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Genetics Commons

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