Essay Example on Sickle cell disease SCD is an Autosomal Recessive Disorder

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Sickle cell disease SCD is an autosomal recessive disorder that causes a mutation of GAG GTG glutamine to valine at the sixth position of the β globin chain of haemoglobin A HBA which consequently mutates into haemoglobin S HbS https www ncbi nlm nih gov pmc articles PMC3766347 bibr16 2040620713483063 SCD occurs when an offspring inherits abnormal haemoglobin S gene from both parents The parents of an individual with an autosomal recessive condition carry either one or two copies of the mutated gene known as the sickle cell trait however the carrier typically does not show any signs and symptoms of the disorder Manifestation of SCD arises due to HbS polymerising under deoxygenated environment as HbS attaches to β globin molecules resulting in highly ordered molecular polymers causing red blood cells to deform into crescent shape Deformed RBC cause clinical complications as cells can stick to vessel walls thus obstructing blood flow causing painful vaso occlusive complications stroke avascular necrosis pulmonary hypertension infections renal failure and thrombosis 




The lifespan of a normal red blood cell is 90 120 days however sickled cells prematurely break within 10 20 days leading to increased haemolysis and anaemia consequently deteriorating individual s health There are many research conducted to find a definite cure of SCD however there are several treatments for SCD which involves the managing the clinical complications of the condition this includes management of pain episodes and provide specific treatments for acute complications Individuals whom are affected by SCD are prone to infections infections are a major cause of mortality and casualty in SCD particularly in children due to their immunologic response Hence children and adults are given antibiotics Penicillin Prophylaxis to inhibit infections Young children are probable to infections which are triggered by encapsulated organisms such as Streptococcus pneumonia and Haemophilus influenza while older children and adults are affected by gram-negative enteric organisms such as Escherichia coli Chlamydia Mycoplasma pneumonia and are prone to kidney infections and osteomyelitis https www ncbi nlm nih gov pmc articles PMC3018247


Prior to the routine use of penicillin in SCD such infections posed as a threat within patients as the prognosis of the infection developed rapidly resulting in death within few hours after onset Children begin taking antibiotic penicillin when they’re about 2 months old until they are 5 years old due to decreased ability to produce immunological response beforehand children under 5 years old were probable to infections 3 2 to 6 9 events occurred per 100 patient-years but the advancement of antibiotic treatment in SCD for children under 5 years old the incidence of infections associated with Streptococcus pneumonia and meningitis has significantly decreased to 1 5 events per 100 patient-years https www ncbi nlm nih gov pmc articles PMC3018247 

Blood transfusion is used as a treatment to handle specific episodes or used as a chronic transfusion therapy to prevent complication linked to SCD The benefit of blood transfusion in SCD is to increase the oxygen-carrying capacity of the red blood cells which decreases blood viscosity This will reduce the sickling of the red blood cells Patients with SCD blood are provided with a simple transfusion or exchange transfusion Simple aims to support patients who are affected with acute anemia administered packed RBC are used when levels of hemoglobin are below 50 60 g l or 20 30 g l depending on the patient's condition HTTP online library Wiley com doi 10 1111 voxs 12047 pdf



Exchange transfusion is used to replace sickle cells through adjusting the haemoglobin levels which initiates an increase in blood viscosity reducing haemolytic complications http asheducationbook hematologylibrary org content 2006 1 48 full Patients with SCD are susceptible to have vaso occlusive crisis affected by blood vessel obstruction Hydroxyurea is an effective drug therapy which is used to subside chronic pain it's a cytotoxic and cytoreductive antimetabolite that acts via inhibition of DNA synthesis by inhibiting ribonucleotide reductase https www ncbi nlm nih gov pmc articles PMC2204144 hydroxyurea increases the production of foetal haemoglobin in red blood cells to inhibit the formation of haemoglobin 

S though altering cytoreductive effects on neutrophils increase the water content of RBC able to successfully navigate sickled cells and alter the adhesion of RBC by decreasing the manifestation of endothelial molecules Hydroxyurea treatment has shown a significant decrease in rates of vaso occlusive crisis incidence of acute chest syndrome prevents sickling of cells improves anaemia and decreases the incidence of acute chest syndrome https academic oup com labmed article 44 4 e92 2505062 hydroxyurea


 Currently, Haematopoietic stem cell transfusion HSCT acts as a curative treatment to treat patients with SCD HSCT is derived from the bone marrow peripheral blood or the umbilical cord blood it replaces abnormal haematopoietic cells with normal cells initiating the production of normal globulins In sickle cell disease Firstly there is no doubt that the treatment success establishes an overall survival rate of 93 100 in patients however there are impediments in the efficacy of HSCT therapy which requires further study to make the procedure safer


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