Sickle Cell Disease (SCD)

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Sickle Cell Disease (SCD)

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Sickle cell disease (SCD) was discovered in 1910. It represents a common inherited blood disorder. Sickle cell disease is a serious condition that can cause labour complications, organ damage and even death. People with sickle cell live a short life and have children with the same condition. Anyone with SCD has an abnormal haemoglobin molecule which causes red blood cells to become rigid and shaped like a sickle when they move through the body’s circulatory system. This condition can cause complications such as stroke and other problems with the brain and heart, resulting in severe cases (Sickle Cell Anemia) or improper oxygen delivery to parts of your body that need it most (such as your brain) (Sundd et al., 2019).

Defecting haemoglobin causes red blood cells to become rigid and sickle-shaped and reduced in number. The symptoms of SCD include fatigue, pain and episodes of destruction (hemolysis) of the red blood cells. The disease often results in severe, disabling lifelong complications such as chronic pain, damage to internal organs, stroke and acute chest syndrome (ACS). Inf underdeveloped blood vessels or organs can have sickle cell anaemia problems during or after birth. These problems can include infections, anaemia and feeding difficulties (Sundd et al., 2019).

Sickle Cell Disease is inherited in an autosomal recessive pattern. This means that each of your parents must be a carrier to pass the disease on to their child. The sickle cell trait (SCQ) is a genetic trait that produces an atypical haemoglobin molecule inherited by the heterozygous state (a single autosomal recessive gene). Individuals with SCQ have a 50% chance of expressing the symptomatic disease and only 25% for milder cases. Therefore, having two carriers for both genes will result in a 75% risk of expressing SCD.

A mutation in the beta-globin chain of the haemoglobin molecule causes sickle cell disease (SCD). This mutation results in sickle haemoglobin, which is less soluble and more rigid than normal haemoglobin. This abnormal haemoglobin causes the red blood cells to be malformed, becoming sickle-shaped. The sickle cells cannot travel easily through small capillaries, thus depriving areas of oxygen, leading to the aetiology of SCD.

This condition is inherited as an autosomal recessive trait. This means it is passed on from carrier parents to the offspring having a 25% chance of passing each of the genes to their offspring. The sickle cell gene is located on one of two copies (one copy inherited from each parent) in most heterozygous people and is dominant over normal haemoglobin in homozygous people. There are two major types of SCD: type I and type II sickle cells. The gene that causes a severe form of SCD (type II) is also called thalassemias. The gene responsible for milder (type I) SCD is called sickle cell trait.

The symptoms of SCD include high fever, jaundice, frequent infections and pain in bones, which can progress to bone necrosis or death. The severity of these symptoms varies from patient to patient and from time to time.

Regarding pathophysiology, red blood cells that are affected by the sickle cell gene are less elastic than normal ones and, as such, do not pass easily through the capillaries, leading to microvascular occlusion. This occurs because there is a decrease in blood flow in circulation due to blockage of vessels. There are three main categories of SCD, i.e. pulmonary, intestinal and hepatic manifestations. In the pulmonary phase, there is a defect in the formation or retention of alveoli and lung micro vascularization. The patient will have pneumonia due to the red blood cells settling in the alveoli due to reduced or delayed oxygen uptake. In this phase, patients will also have pleural effusion (accumulation of liquid) and ascites (accumulation of fluid). In liver pathology, there is involvement with microvascular injury and hepatomegaly due to the accumulation of red blood cells at the cellular level in hepatocytes (Orhurhu et al., 2020).

Hydroxyurea (HU): HU was approved by FDA in 2000 for the treatment of SCD. It is a cytotoxic agent that works to stimulate the production of an enzyme capable of stopping blood cells from abnormally clumping together (Ndefo et al., 2008). HU is typically taken 3x per week for 12 weeks at a time and then taken less often as needed depending on the patient’s symptoms, which may decrease with time or have unsuccessful outcomes after ten years if not continued therapy. However, some doctors will prescribe it for indefinite periods due to low side effects.

A care plan and patient education on Sickle Cell Disease are vital in managing the disorder. The various goals of such a plan are to care for individuals with SCD, monitor their disease status, and provide supportive care. A typical plan will include a prescription of the proper treatment, follow-up visits with the clinician, and education regarding symptom management. It is equally important that individuals understand their condition and its effects on their everyday life to take advantage of preventive measures when possible (Matthie et al., 2015). It is also important that they know what symptoms to watch out for to get appropriate care immediately.

To ensure that individuals with SCD are properly caring for themselves, education and guidance (palliative) are also important components of the management plan. Palliative care goals include early recognition of and prompt intervention in complications of SCD so that the individual can undergo surgery for organ damage when possible. Education about the disorder’s presentation, risk factors, diagnosis and treatment will allow the individual to be proactive in managing their disease (Matthie et al., 2015).

References

Matthie, N., Jenerette, C., & McMillan, S. (2015). Role of self-care in sickle cell disease. Pain Management Nursing, 16(3), 257-266.

Ndefo, U. A., Maxwell, A. E., Nguyen, H., & Chiobi, T. L. (2008). Pharmacological management of sickle cell disease. P & T : a peer-reviewed journal for formulary management, 33(4), 238–243.

Orhurhu, M. S., Chu, R., Claus, L., Roberts, J., Salisu, B., Urits, I., … & Orhurhu, V. (2020). Neuropathic pain and sickle cell disease: a review of pharmacologic management. Current Pain and Headache Reports, 24(9), 1-14.

Sundd, P., Gladwin, M. T., & Novelli, E. M. (2019). Pathophysiology of sickle cell disease. Annual review of pathology, 14, 263.

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