Genetic Disease Article on Sickle Cell Anaemia

Document Type:Research Paper

Subject Area:Biology

Document 1

Hemoglobin is the most critical component of blood which has a protein (globulin) and a molecule (heme) that binds to iron and takes up Oxygen. The Oxygen is carried by the cells to the tissues for release to the body tissues, and Carbon dioxide is gotten rid of in a cyclic process. What Sickle cell Anemia does is to deny adequate supply of Oxygen to all body parts, resulting in severe pain (Sickle cell crisis) and organ damage. More problems associated with the disease include hand and feet swelling, stroke, bacterial infection and long and short-term pain. The life expectancy of a Sickle cell Anemia patient is 40-60 years in the developed world. • Dehydration • Low levels of oxygen due to for example, high altitudes and rigorous exercising.

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• Rapid loss of body heat • Medical reasons like giving birth and surgery. • Strong emotional expressions like depression and anger. • Viral illnesses and bacterial infections. Causes Sickle cell Anemia is caused by genetic changes which result in abnormalities in haemoglobin molecules namely: • Hemoglobin A (HbA): Found in healthy red blood cells throughout a person’s life. Pathophysiology In sickle cell disease, at low O2 tension, Hgb is polymerised to form a semi-solid gel in the RBC. Situations causing low O2 tension include stress, infections, hypoxia, dehydration and acidosis etc. RBC changes shape from the usual biconcave structure to a sickle shape. Normally, Red blood cells are able to deform their shape and pass through capillaries due to their elasticity. Sickle cells have low oxygen concentration and this promotes the sickling process.

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The risk factor for contracting the disease can be calculated on whether the parents have the disease or the trait. For instance, in the case one parent has the disease and the other has the trait, then the child has a 50% chance of inheriting sickle-cell disease and a 50% chance of having the sickle cell trait. In the case of both parents having sickle cell trait, the child is 25% likely to develop the disease, 25% chance of not inheriting it and 50% likely to be a carrier. (Hoban Orkin & Bauer, 2016). Polymerisation problems are minor in people who are heterozygous for HbS since the normal allele produces 50% of the haemoglobin while for the homozygous ones, the presence of long chain HbS polymers distorts the shape of the red blood cell into a sickle-shaped and spiky defective cell that is fragile and can break within the capillaries.

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The concept of inheritance of the disease dismisses the notion of whether the disease can be contracted or spread from one person to another (Okumura et al. , 2016) Genes are inherited at the time of conception. A child receives one set of genes from the mother’s egg and a corresponding set from the father’s sperm. Inside the cells, there are chromosomes on which the genes exist. Characteristics or traits passed onto the offsprings are determined either by single genes or the combined effects of multiple genes. Nursing management • Managing pain: Analgesics should be used but subject to two factors; the subjective description of the patient and the pain rating on a pain rating. Breathing exercises and distraction techniques should be used for some of the patients and swollen joints ought to be elevated and support till the swearing disappears.

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• Preventing and managing infection: Administration of antibiotics should be done promptly and the patient should be examined for signs of dehydration. The patient must be educated on the use of the antibiotic therapy and must be able to identify a feasible schedule if at home. • Promoting coping skills: The ability of the patient to use common coping resources of psychological stamina, physical strength and positive self-esteem is assessed and improved. Sickle cell anaemia deprives the body of oxygen as the cells rupture in the capillaries causing a jam that slows the flow of blood. This causes pain in the body and can even result in fatal complications. The disease is also referred to as "a state of suffering," and has a wide range of effects that vary from one patient to another.

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In children, the disease damages their spleens, reducing their defence against bacterial infections, thus making them prone to disease attacks. Lung infections are also common effects among patients, but the gravest are long-term organ damage, pregnancy complications, high blood pressure and low birth weight of newborns (Field, Vichinsky & DeBaun, 2014). Sickle Cell Disease. American journal of preventive medicine, 51(1), S1-S2. Yawn, B. P. , Buchanan, G. J. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. Jama, 312(10), 1033-1048. Hoban, M. D. A. , & Al-Qallaf, F. Neurological complications of sickle cell disease. Int J Clin Exp Neurol, 4, 9-18 Field, J. J. H. Minireview: Genetic basis of heterogeneity and severity in sickle cell disease. Experimental Biology and Medicine, 241(7), 689-696. Sigler, P.

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