Sickle cell disorder is a grouping of blood diseases commonly inherited from an individual’s parents. Sickle cell anemia is the most persistent type of sickle cell disorder. Sickle cell anemia causes abnormalities in hemoglobin, the protein that carries oxygen, located in the RBC, thereby, causing the red blood cells to assume a rigid, sticky, and sickle-shaped structures. During the year 1910, James B. Herrick, an American physician, first delineated the disorder in the medical literature (Plat, Eckman & Hsu, 2011). The genetic transmission of the disease was later determined during the year 1949 by Neel J.V and Beet E.A. Moreover, during 1954, medical researchers delineated the protective effect of the disorder against malaria (Plat, Eckman & Hsu, 2011). The mean life expectancy of sickle cell disorder patients in the developed countries is amid forty and sixty years. By 2015, approximately 4.4 million individuals had been diagnosed with sickle cell disorder, and about 43 million individuals exhibited sickle cell traits (Ware et al ., 2017). Around eight percent of the medical cases involving sickle cell disorder is believed to persist in Sub-Saharan Africa. During 2015, approximately 114,800 individuals died of sickle cell disorder (Ware et al., 2017).
Signs and Symptoms
The signs of the disorder often emerge during early childhood and its severity may vary amid patients. Sickle cell disorder may lead to chronic and acute health complications, some of which may be associated with high mortality rates.
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Sickle Cell Crisis
The phrase may be used to delineate various independent acute health conditions which occur in patients suffering from sickle cell anemia. The disorder often results in different health conditions, for instance, anemia, hemolytic crisis, sequestration crisis, aplastic crisis, and vaso-occlusive crisis (Ware et al., 2017). Most incidences of sickle cell crises often last amid 5 and 7 days. Although, acidosis, dehydration, and infection may act as triggers, in many cases, no predisposing causes are usually identified.
Vaso-occlusive Crisis
Vaso-occlusive crises are usually triggered by the sickle-shaped RBC which block capillaries and constrict the flow of blood to body organs, thereby, resulting in necrosis, pain, ischemia, and organ damage (Badawy et al ., 2018). The duration, severity, and frequency of these crises frequently vary significantly.
Acute Chest Syndrome (ACS)
ACS is a condition that is usually defined by around two of the symptoms and signs below: Chest pains, hypoxemia, respiratory symptoms, fever, focal abnormality, or pulmonary infiltrate (Badawy et al., 2018). According to Badawy et al. (2018), acute chest syndrome ranks second amid the most persistent complications of sickle cell disease, and it accounts for approximately twenty-five percent of mortality rates among patients suffering from sickle cell disorder. Many of the patients with vaso-occlusive crises complications may subsequently develop acute chest syndrome conditions. Moreover, approximately eighty percent of patients demonstrating Acute Chest Syndrome complications often exhibit vaso-occlusive crisis symptoms.
Aplastic Crisis
Aplastic crisis is the acute aggravation of an individual’s baseline anemia; this condition results in aspects such as fatigue, increased heart rates, and pale appearance. Aplastic crises are usually caused by parvovirus B19; this condition directly impacts the synthesis of RBC by penetrating the precursors of the red cells (Plat, Eckman & Hsu, 2011). In the red cells precursors, parvovirus B19 often multiply and later destroy these precursors. Parvovirus B19 may prevent the production of red blood cells for around 2 to 3 days. Additionally, the number of reticulocytes often drops rapidly during the parvovirus infection thereby causing a condition referred to as reticulocytopenia. The significant decreases in the proper functioning of the red cells lead to a significant reduction in hemoglobin. Aplastic crisis often takes around four days to approximately a week to completely disappear (Plat, Eckman & Hsu, 2011). Patients may be supportively managed, however, some may require a blood transfusion.
Haemolytic Crisis
Hemolytic crisis causes severe significant decreases in the level of hemoglobin. Under this health condition, RBCs are usually broken down at a significantly rapid rate. Hemolytic crises are generally persistent in individuals with concurrent G6PD deficiencies (Ware et al., 2017). The condition may be managed effectively; however, a blood transfusion may be necessary for critical conditions. Another common sign and symptom of the disorder is dactylitis, an early clinical manifestation which often emerges when an individual is around six months old and may be common among infants with sickle cell trait and it may for approximately one month. Hematopoietic ulcers can also prevail (Ware et al., 2017).
Causes of the Disorder
In patients diagnosed with sickle cell disorder, at least one subunit of β-globin located in hemoglobin A is usually substituted with hemoglobin S (Badawy et al., 2018). Among patients suffering from sickle cell anemia hemoglobin S often substitutes both subunits of β-globin located in the hemoglobin (Badawy et al., 2018). According to Plat, Eckman, and Hsu (2011), Sickle cell disorders typically have an autosomal recessive inheritance sequence from parents. The defects on the gene are as a result of the single nucleotide mutation of the β-globin gene that consequently leads to the substitution of glutamic acid by valine in the mutant protein at position 6. The allele liable for the causing sickle cell anemia is usually located on chromosome 11’s short arm particularly 11p15.5. An individual who inherits the defective gene from both parents develops the disorder. On the contrary, one who inherits one healthy and one defective allele from one’s parents remains healthy and is commonly referred to as a heterozygote or carrier. However, the latter may pass on the disorder.
Diagnosis
Blood tests may be used to examine the presence of hemoglobin S, which is the defective hemoglobin form that causes sickle cell anemia. In individuals with hemoglobin S, a complete blood count often exhibits the levels of hemoglobin within the range of around six to eight g/dl with a significantly higher reticulocyte count (Ware et al., 2017). In other types of sickle cell disorder, the levels of hemoglobin tend to be higher. Blood films may demonstrate hyposplenism features; this includes Howell-Jolly bodies and target cells. Sodium metabisulfite is used to trigger the sickling nature of RBCs on blood films. The analysis of the availability of sickle Hb in blood tests may also be performed using the sickle solubility test. Under this test, the presence of hemoglobin S in reducing solutions, for instance, sodium dithionite, usually gives or leaves a turbid appearance. Normal Hb, on the other hand, leaves a clear solution. The abnormal forms of Hb may be uncovered using hemoglobin electrophoresis; this is a type of gel electrophoresis that allows the movement of different hemoglobin forms at different velocities. Hemoglobin electrophoresis aids in the identification of two primary abnormal forms of Hb: HgbSC (Haemoglobin C with Sickling) and HgbS (Sickle Cell Haemoglobin) (Badawy et al., 2018). The confirmation of this form of diagnosis is usually done using liquid chemotherapy (high-performance). Infections usually trigger severe sickle cell crises, and thus, routinely performed urinalysis tests should be carried out to diagnose the presence of urinary tract infections and chest X-rays to detect the presence of pneumonia. Carriers of the disorder usually receive genetic counseling before childbirth. Tests to discern the manifestation of the disorder in an unborn child’s immune system assumes two primary procedures: Sampling and analysis of the fetus’ blood or amniotic fluid (Badawy et al., 2018).
Treatment
Physicians often recommend the daily administration of penicillin drug to infants aged between one day and five years old due to their primitive or undeveloped immune system which makes them more susceptible to childhood diseases (Ware et al., 2017). Additionally, WHO recommends the use of folic acid as a dietary supplement among infants with the age range mentioned earlier. Malaria prevention strategies should also be employed particularly, amid individuals with sickle cell disease due to their susceptibility to the infection. Painful crises due to the persistence of vaso-occlusive crisis are symptomatically treated using pain medications. The management of pain requires the administration of opioids at regular intervals. Mild crises NSAIDs, for instance, naproxen and diclofenac may be used to manage the pain. Acute crises require the inpatient management of the disorder using intravenous opioids. A doctor may recommend the use of diphenhydramine to aid in controlling itching as a result of opioid consumption. The management of crisis due to ACS is similar to the management of vaso-occlusive crises. However, the use of antibiotics, oxygen supplementation particularly for the management of hypoxia, and close observation are necessary (Plat, Eckman & Hsu, 2011). The treatment of avascular necrosis amid patients with sickle cell disorder involves the use of pain-relief medications, physical therapies, or bone grafting. Other forms of medications for the disorder include the use of hydroxyurea, blood transfusion, bone marrow transplants, and psychological therapies.
Conclusion
Health issues associated with sickle cell disorder usually emerge when an individual is around five to six months of age. Various health issues, for instance, pain attacks (sickle cell crises), stroke, bacterial infections, swelling in the feet and hands, and anemia may subsequently develop as one grows up. Long-term pain often develops as patients grow old. Some of the common symptoms of the disorder include sickle-cell crises, acute chest crisis, vaso-occlusive crises, and aplastic crises. Sickle cell disorder usually has an autosomal recessive inheritance sequence from parents. The effective diagnosis and treatment of the disorder are, therefore, essential for the management of the disorder and the sustainability of life.
References
Badawy, S. M., Cronin, R. M., Hankins, J., Crosby, L., DeBaun, M., Thompson, A. A., Shah. (2018). Patient-Centered eHealth interventions for children, adolescents, and adults with Sickle Cell Disease: Systematic review. Journal of Medical Internet Research , 20(7), 5–17.
Ware, R. E., de Montalembert, M., Tshilolo, L., & Abboud, M. R. (2017). Sickle cell disease. Lancet , 390(10091), 311–323.
Platt, A. F., Eckman, J., & Hsu, L. (2011). Hope and destiny: The patient and parent's guide to sickle cell disease and sickle cell trait . Indianapolis, Ind: Hilton Pub. Co.
