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Sickle Cell Anemia

By drizzzle89 Apr 18, 2015 1567 Words
Physiology Of Flight
Term Paper
DERYL OMATSEYE
Everglades University

Mr. Kirk Webster

Sickle Cell Anemia

Sickle cell anemia or also known as sickle cell disease is a hereditary genetic disease defined by the presence of odd shaped crescent-shaped red blood cells instead of the regular round disc like shape cells. Red blood cells transport oxygen from the lungs to various other organs and tissues with the help of a protein called hemoglobin. The main cause of sickle cell disease is when hemoglobin mutates into an abnormal type called hemoglobin S. The presence of Hemoglobin S causes red blood cells to be sickle-shaped and rigid, making it more difficult for them to flow through blood vessels in the body to deliver oxygen. Therefore, the sickled cells latch onto the walls of various blood vessels throughout the body, resulting in blocked blood flow that can lead to organ damage, pain and infections

I have chosen to write my paper on a subject that I have been constantly learning about for years due to my younger brother being a Sickle cell anemia patient for all of his life. My brother is currently 23 years old and has the Sickle Cell hemoglobin SS trait disease. The Sickle cell disease is an inherited condition, two genes for the sickle hemoglobin where inherited from our parents (Both my parents have the hemoglobin AS trait) in order for him to have the disease.

At the time of conception, a person receives one set of genes from the mother’s egg and a parallel set of genes come from the father’s sperm. These genes stand on structures inside cells called chromosomes. The combined effects of many genes determine some traits (hair color and height, for instance). One gene pair determines other characteristics. Sickle cell disease is a condition that is determined by a single pair of genes (one from each parent).

The Sickle cell disease transforms his normal, round red blood cells into cells that can be shaped like crescent moons or a sickle tool, which has a crescent shaped blade. Normal red blood cells move easily through his blood vessels, taking oxygen to every part of your body. But sickled cells can get stuck and block blood vessels, which stops the oxygen from getting through. That can cause a lot of pain. It can also harm organs, muscles, and bones.

My brother having the sickle cell disease has meant a lifetime battle against the health problems it can cause, such as pain, infections, anemia, stroke and even death. Although many people including my brother are able to have a good quality of life by learning to manage the disease.

Painful events also known as sickle cell crises are the most common symptom of sickle cell disease. They are durations of pain, which occur when sickled cells get stuck in blood vessels and block or slow down the blood flow. These events cause pain in the chest, back, belly hands and or feet, which is most simultaneously. The pain may last for hours or even days.

People with sickle cell disease often have anemia, caused by a shortage of red blood cells. Anemia makes you feel weak and tired. People with sickle cell anemia may look pale or washed out. Their skin and the whites of their eyes may have a yellowish look (jaundice).

Signs and symptoms of sickle cell disease usually begin in early childhood. The main features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others like my brother was are frequently hospitalized for more serious complications. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia causes shortness of breath, fatigue, and delayed growth & development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. Sickle cell Crisis comes in four patterns and are now recognizable. They are based on the part of the body where the crisis occurs. Bone crisis: An acute or sudden pain in a bone can occur, usually in an arm or leg. The main bones involved include the large bones in the humerus, tibia, and femur. The same bone may be affected repeatedly in future episodes of bone crisis.

Acute chest syndrome: Sudden acute chest pain with coughing up of blood can occur. Low-grade fevers can be present. The person is usually short of breath. If a cough is present, it often is nonproductive. Acute chest syndrome is common in a young person with sickle cell disease. Chronic (long-term) sickle cell lung disease develops with time because the acute and sub acute lung crisis leads to scarred lungs and other problems.

Abdominal crisis: The pain associated with the abdominal crisis of sickle cell disease is constant and sudden. It becomes unrelenting. The pain may or may not be localized to any one area of the abdomen. Nausea, vomiting, and diarrhea may or may not occur.

Joint crisis: Acute and painful joint crisis may develop without a significant traumatic history. Its focus is either in a single joint or in multiple joints. Often the connecting bony parts of the joint are painful. Range of motion is often restricted because of the pain. Avascular necrosis of the hips can occur, causing permanent damage.

Many other organ systems are often injured or impaired such as the Central nervous system, the eyes, kidneys and gentiles.

Central nervous system: Two-thirds of all strokes in people with sickle cell disease occur in children, at an average age of 8 years. About 10% of people with sickle cell disease have strokes or other brain bleeding when younger than 8-10 years. As the population ages, the incidence of these events also increases. Repeat strokes occur in two-thirds of all survivors within 3 years of the first stroke. Blood clots affect the large vessels in the brain. Bleeding may occur in the small vessels damaged by sickle cell disease. Eyes: The effect of sickle cell disease on the eyes comes from the increased viscosity, or sludging of blood and the narrowness of the eye's blood vessels. Retinopathy is a disease of the retina in the eye is common and causes problems with vision. Retinal detachment is also frequent.

Kidneys: There is some amount of kidney damage, which occurs in almost every sickle cell patient. They are also very prone to getting Gallstones in the kidney, which are hard, pebble-like deposits that form inside the gallbladder. Gallstones may be as tiny as a grain of sand or as big as a golf ball.

Genitals: Priapism which is a constant erection of the penis is common in patients. It affects about 40% of all men with sickle cell disease. Severe episodes are a frequent cause of impotency.

Infections: People with sickle cell disease have weakened immune systems and are at increased risk for developing infection, especially in the lungs, kidneys, bones, and central nervous system, which I have talked about above.

The aim of treatment is to manage and control symptoms rather than to cure them, and to limit the number of crises. People with sickle cell disease require ongoing treatment, even when not having a crisis. Patients with sickle cell anemia are suggested to take folic acid supplements daily, as folic acid helps produce new red blood cells. Treatment for a sickle cell crisis includes:

Blood transfusions (may also be given regularly to prevent stroke which could be as often as every 3 months) Pain medicines (which help relive pain due to crisis pain)
Plenty of fluids
Hydroxyurea (Helps reduce the number of pain episodes, including chest pain and breathing problems in some patients) Antibiotics (Helps prevent bacterial infections, which are common in children with sickle cell disease)

A sickle cell patient will also require treatments that may be needed to manage complications of sickle cell anemia include: kidney transplant for kidney disease
Counseling would be required for psychological complications due to long periods of pain over the years. Gallbladder removal for patients with gallstone disease
Hip replacement for avascular necrosis of the hip
Surgery for eye problems
Treatment for overuse or abuse of narcotic pain medicines
Bone marrow or stem cell transplants can cure sickle cell anemia, but this treatment is not an option for most people due to age. Sickle cell anemia patients often cannot find well-matched stem cell donors.

Citation

(Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease, 2000 May 1) http://www.ncbi.nlm.nih.gov/pubmed/10791557?dopt=Abstract

(Centers for Disease Control and Prevention, 16 September 2011) http://www.cdc.gov/ncbddd/sicklecell/data.html

(Genetics Home, Sickle Cell Disease, August 2012) http://ghr.nlm.nih.gov/condition/sickle-cell-disease

(John R Krimm, DO, FAAEM, Sickle Cell Crisis, 6 November 2014) http://www.emedicinehealth.com/sickle_cell_crisis/page3_em.htm

(St. Jude Children’s Research Hospital, Sickle Cell Trait,) http://www.stjude.org/stjude/v/index.jsp?vgnextoid=9454db6324d6f110VgnVCM1000001e0215acRCRD

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