Sickle Cell Disease Date
Sicklecell disease is a type of a disorder that affects the hemoglobinresponsible for transporting oxygen to body cells. The disease iscaused by an individual inheriting two sickle cell genes or any othercombination of a sickle cell gene with another abnormal gene. Whenchanges occur to the flow of oxygen in the body, symptoms of sicklecell are observed. The red blood cell carrying the blood becomesdistorted forming a sickle or rigid banana shape which is responsiblefor blood clogging. These distorted sickle cells are then entrappedand destroyed in the spleen or the liver (William, 2017). When thenumber of red blood cells reduces, anemia is the resultant condition.There are various types of sickle cell anemia such as HbSS, HbSC andHbs beta Thalassemia. The symptoms of sickle cell anemia includefatigue, pain in the hands and feet, jaundice, pain in the chest,pain in the joints and bones, abdominal pain, fever, rapid heartbeat,delayed growth and puberty, ulcers in the lower legs, poor eyesight,bloody urine, excess urination, excess thirsty, and priapism(unwanted and painful erection). Sickle cell anemia crises can bebrought about by body trauma, exposure to extreme cold or heat,excess physical exertion and dehydration (Mayo Clinic Staff, 2016).
Researchhas pointed out that the sickling of the RBCs is as a result of themutation of the haemoglobin gene which transforms the haemoglobinmolecules to “Haemoglobin – S” responsible for the distortion ofthe cells. Individuals with this illness have reported frequentinfections and periodic incidents of pain. The pain results from ridand inflexible sickled RBCs which get entrapped within small bloodvessels. Anemia could result to short breaths, fatigue and delayedgrowth among kids. Splitting of the RBCs could also result to yelloweyes and skin, which are symptoms associated with jaundice (William,2017). When cells are deprived of oxygen, organs are harmedspecifically the lungs, the kidneys, spleen and even the brain. Whenthe brain is affected, the individual can suffer from stroke. Asevere condition known as high blood pressure could result within theblood vessels supplying blood to the lungs, majorly pulmonaryhypertension. In terms of the distribution of the disease, it iscommon to individuals whose their ancestors lived in Africa, Greece,Turkey, Italy, Arabian Peninsula, India and Spanish-speakingcountries within central America, South America and Caribbean. Morethan 80,000 individuals were born with the illness in the US(Hassell, 2010).
Sicklecell disease is an inherited disease which is carried as an autosomalrecessive trait, which in other words means that both the parentsmust carry haemoglobin S gene and each of the children will have aquarter chance of getting infected. The cause of sickle cell diseasevaries from one individual to another. An individual with sickletrait has a higher likelihood of surviving an outbreak from malariacompared to an individual with just normal hemoglobin. When ahemolytic crisis occurs (breaking down of RBCs), the condition nowbecomes life threatening (Mayo Clinic Staff, 2016). The spleen growsbig and entraps blood cells a condition known as splenicsequestration crisis.The bone marrow also stops producing RBCs (aplasticcrisis).Intravenous treatment therapy and oxygen are adopted to treat sicklecell pain crises since dehydration, low oxygen and infectionsincrease the speed of RBC sickling. In the US, diagnosis of sicklecell disease is conducted at child birth via a special blood test andit is a legally required that this be done routinely in all thestates (CDCP, 2017). A procedure known as chorionicvillus sampling canbe performed to diagnose the same before birth.
Healthmaintenance of the patients with sickle cell disease begins with anearly diagnosis via penicillin prophylaxis. Patients are alsovaccinated against bacteria known as pneumococcus. Supplementationwith folic acid is also another efficient method. In case ofcomplications, antibiotics are used and even surgery withpsychosocial support can be done. A multi-disciplinary care programis embraced for patients with sickle cell disease just as it is doneto other patients with chronic diseases. Hydroxyurea drug is one ofthe current ventures in the search of a promising treatment programsand has been found to be effective in treating or reducing severecases of pain, acute chest syndrome and prevents the necessity oftransfusing blood to patients with sickle cell disease (Wong et al2014). It is a new drug and must be utilized with lots of caution.Rapid laboratory tests are done due to the insoluble nature of thedeoxygenated sickle haemoglobin.
Whenscientists succeed in using genetic engineering techniques to derivebetter copies of beta globin gene, individuals with the disease mayget a complete cure but will still be in a position to pass the genesto their offspring. Treatment methods are constantly being improvedto cure sickle cell anemia. Blood transfusion is also done to replacethe infected RBCs. Gene therapy has also been proposed as aneffective way of stopping the reproduction of the infected RBCs inthe body. Hematopoietic stem cell transplantation (HSCT) is only thecurrent cure for sickle cell anemia but depends on well-matcheddonations for transplant to occur (Barriga et al. 2012).
Barriga,F., Ramírez, P., Wietstruck, A., & Rojas, N. (2012).Hematopoietic stem cell transplantation: clinical use andperspectives. Biologicalresearch, 45(3),307-316.
Centersfor Disease Control and Prevention (2017). Importance of NewbornScreening. Retrieved fromhttps://www.cdc.gov/ncbddd/newbornscreening/.
Hassell,K. L. (2010). Population estimates of sickle cell disease in theUS. Americanjournal of preventive medicine, 38(4),S512-S521.
MayoClinic Staff (2016). Sickle cell anemia. Retrieved fromhttp://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/dxc-20303269.
TrishaE. Wong, Amanda M. Brandow, Wendy Lim & Richard Lottenberg(2014). Updateon the use of hydroxyurea therapy in sickle cell disease.Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271176/.
WilliamC. Shiel Jr., MD, FACP, FACR (2017). Sickle Cell Disease (Sickle CellAnemia). Retrieved fromhttp://www.medicinenet.com/sickle_cell/page2.htm.
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