The Sickle-Cell disease is a broad topic and it’s the most common blood disease in the U.S. It’s an Autosomal recessive Mandilion genetic Disorder. There are many ways people refer to it, some may call it Hbs disease, Hemoglobin S disease, or SCD. SCD is an inherited form of Anemia, which is a condition that lacks and is missing healthy red blood cells, meaning your body makes excessive amounts of abnormal red blood cells. This disease affects directly the hemoglobin—protein in the red blood cells that deliver oxygen—therefore you may notice patients with this disorder may go through a lot of resulting symptoms. It’s basically caused by a mutation in the hemoglobin beta (HBB) gene and sometimes when occasions very it can lead to different forms of sickle cell disease, for example, sickle beta-thalassemia and sickle cell hemoglobin C disease.
SCD is most common within the African-American population, one of every five-hundred Africans would usually inherit this disease. Compared to Hispanics, 1of every 1200-1500 Hispanics are born with SCD. Common symptoms that are associated with SCD sometimes vary from person to person, therefore it can change over time. The most common signs and symptoms are episodes of pain, swelling of hands and feet, frequent infection, vision problems or delay growth. There are treatments for sickle-cell disease, but these treatments depend on the symptoms, for example, a patient may be given medical treatments for health promotions or symptom preventions. The future outlook for patients of SCD is short life expectancy (around the mid-50s). The long-term medical outlook is that new and improved, quality treatments are producing and improving patient’s life expectancy and quality of life. This research paper will further look over the sickle-cell disease at a scientific outlook, compare and contrast different scientific points of view, explain thoroughly the symptoms, causes, and possible treatments. The articles that will be used throughout this research paper are cdc.gov, ghr.nlm.nih.gov, mayoclinic.org, clevelandclinic.org, and rarediseases.org.
Mutations in the HBB gene is the main cause of SCD and are most common in people from Africa. Hemoglobin consists of four subunits: 2 subunits called alpha-globin and two subunits called beta-globin. The HBB gene gives the instructions for making beta-globin. One HBB gene mutation produces abnormal and different types of beta globin. Mutation in these genes can also result in low levels of beta-globin this specific error this error in the human body is referred to one of the different forms of SCD called beta-thalassemia. In SCD defective hemoglobin causes the red blood cell to abnormally change shape. Originally sickle-cell disease is passed down from generations through a pattern of inheritance called, autosomal recessive inheritance (4). As Hemoglobin releases oxygen chemical changes in the hemoglobin is what causes the substances in red-blood cells to change into these rod-like shapes, making the red blood cells look just like a sickle (3).
Sickle cells die very quickly and too soon, this sometimes causes Anemia, then these sickle cells get stuck in blood vessels which can lead to serious health compilations.
For children to be 100% born with SCD, the sickle cell disease trait must be present in both parents. When a child inherits SCD of one parent, then that child will only be a carrier of the trait. This means that the child is going to make both the normal hemoglobin gene and the defective gene. In this case, this child will not be noticing any symptoms (2). There are occasions where a child carrier, which is supposed to be a symptom-free child, may have been noticing he has the same symptoms of SCD. This happens when the parent, without SCD, has a different mutation in his/her gene. In scenarios like this, the child will have a different form of SCD, for example, as explained before the beta-thalassemia (5).
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Most common symptoms and signs of SCD are usually associated with pain and lack of healthy red blood cells (5). Centers for Disease Control and Prevention, claims that the hand and foot swelling symptom is the first symptom that a child will notice as well as the most common, while NORD (National Organization for Rare Disorders) has a totally different outlook. NORD seems to have come to the conclusion that the most common and usually the first symptom of a child is feeling tired and week (fatigue). Doctors and Scientists are not all that sure what is the most common or first symptom a patient would experience because they each have their different perspectives.
SCD patients experience episodes of pain sometimes lasting days or weeks. They are most common in the abdomen or in the bones. These episodes of pain occur because of the lack of red blood cells. Patients with more than a year suffering from SCD will eventually experience yellow eyes, called jaundice. There are some times that the patient won’t suffer from Jaundice because their SCD is mostly affecting some other type of organ (2).
Another type of symptom is Acute chest syndrome. This syndrome will most commonly occur when SCD in patients is affecting the lungs more than any other organ. People who have acute chest syndrome are life-threatened. Whenever you have something this severe there are no treatments for it, and this applies to all life-threatening compilation. Only medical pain relievers are available for these symptoms. Another example of a long-term symptom that only has limited medical treatments, is priapism, a male medical condition that will keep the penis at an erected form, meaning it does not return to a soft and flaccid state (5). Symptoms which are commonly occurring in every patient can include: frequent infections (SCD can damage an organ that fights infection making you more vulnerable), delayed growth (lack of healthy red blood cells slows your growth and delays puberty), and vision problems (sickle cell plugs the blood vessels supporting your eye) (2).
Sickle cell disease is a disease that gradually over time gets worse. SCD treatments are very limited. There are treatments that can prevent health complications and treatments that can make sickle cell patients’ life longer. Since each person is different and there are cases of severe or mild SCD, the treatments vary from person to person (1).
There are easy procedures to prevent episodes of pain, you can drink a lot of water or stay away from high altitudes, but people who have very severe or more complicated episodes of pain can easily take opioid medication daily along with pain medication. Even though you take medication, doctors supported by scientist suggest that if you have severed episode of pain you should, be “admitted to the hospital for intense treatment.” Vaccines can protect patients against infection. You can prevent them by taking proscribed antibodies, or when more complicated the infection, you can do blood transfusions. Vision problems also have its temporary treatment but as a kid, it’s best to get laser treatment on your eyes to further prevent vision loss. One of the deadliest symptoms is Acute Chest syndrome. Patients with this are highly suggested to go to the hospital for further treatment. This syndrome needs heavy and daily treatment. To help you breathe you’re going to need oxygen, some medication to open up your airways alongside with infection medication (1).
The only potential treatment for SCD is a bone marrow transplant, but the risks include death. Apart from death, the transplant is only possible at a certain age (4).
To summarize my intended purpose, this paper suggested possible treatment, for example, pain and infection medications, included the differences in how scientist or doctors would look at symptoms of SCD, it expressed with detail how the HBB mutations can affect a person. As years have gone by SCD treatments have progressed and gotten better in quality and in results. It is estimated that within a few years Patients with SCD will have larger life spam and will have much less trouble living with SCD.
- “Complications and Treatments of Sickle Cell Disease | CDC.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, www.cdc.gov/ncbddd/sicklecell/treatments.html.
- “Sickle Cell Anemia.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 8 Mar. 2018, www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876.
- “Sickle Cell Disease.” Cleveland Clinic, my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease.
- “Sickle Cell Disease – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/sickle-cell-disease.
- “Sickle Cell Disease.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/sickle-cell-disease/.
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