Sickle cell disease

Sickle cell disease

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  SICKLE CELL DISEASE By:Aina Qistina binti Mohamed Hanafi ID: 0316799
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  Sickle Cell Disease •An autosomal recessive inherited disease that affect the red blood cell and other organ in the body.
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  PATHOGENESIS • HbS isproduce when there is a point mutation at position 6 of β-globin chain which change the glutamic acid to non- polar valine. • The absence of polar amino acid in position 6 of β-globin promote non- covalent polymerisation of haemoglobin when it is in deoxygenated form.
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  Pathogenesis • The polymerisationcauses change in shape of red blood cell (sickle). • The red blood cell can regain its original shape when receive oxygen. (depolymerization)
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  Clinical Features • Episodesof pain- blockage of blood vessel. • Anaemia- the constant cycle of polymerization and de- polymerization of Hb weakened the RBC membrane causing it to die faster. • Splenomegaly- too much sickled cell is trap inside the spleen. • Infection- due to loss of function of the spleen
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  Clinical Features • Jaundice-The sickle cell have a short life span. They destroy rapidly causing build up of bilirubin.
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  References • . (2014).Sickle-Cell Disease Pathophysiology. Available: http://www.news- medical.net/health/Sickle-Cell-Disease-Pathophysiology.aspx. Last accessed 26th March 2015. • Franklin, H. (1997). Pathogenesis and Treatment of Sickle Cell Disease. Available: http://www.nejm.org/doi/full/10.1056/NEJM199709113371107. Last accessed 26th March 2015. • Kenny, T. (2015). Sickle Cell Disease and Sickle Cell Anaemia.Available: http://www.patient.co.uk/health/sickle-cell-disease-and-sickle-cell-anaemia- leaflet. Last accessed 26th March 2015. • . (2014). Understanding Anemia -- the Basics. Available: http://www.webmd.com/a-to-z-guides/understanding-anemia-basics. Last accessed 26th March 2015. • . (2012). What Are the Signs and Symptoms of Sickle Cell Anemia?. Available: http://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs. Last accessed 26th March 2015. • . (2014). Pathophysiology and Principles of Treatment . Available: https://scinfo.org/additional-online-books-and-articles/pathophysiology-and- principles-of-treatment. Last accessed 26th March 2015. • Ahmed, H. (2011). Splenic Complications of Sickle Cell Anemia and the Role of Splenectomy. Available: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200071/. Last accessed 26th March 2015. • . (2014). Sickle Cell Disease: Splenic Sequestration - Topic Overview. Available: http://www.webmd.com/pain-management/tc/sickle-cell-disease-splenic- sequestration-topic-overview. Last accessed 26th March 2015.