Description of disease:

Sickle cell disease is an inherited autosomal recessive disorder affecting the  red blood cells. Normal red blood cells contain hemoglobin A. People with sickle cell disease have red blood cells containing mostly hemoglobin S, an abnormal type of hemoglobin. These red blood cells become sickle-shaped (crescent-shaped), and have difficulty passing through small blood vessels. There are several different types of sickle cell disease; the most common types are homozygous sickle cell disease (SS disease), and sickle-cell beta thalassemia (Sß⁺ or Sß⁰ disease) (Fisher, 2016).

Symptom:

Symptoms start during the first year of life, usually around 5 months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe. Pain during a sickle cell crisis can happen anywhere in the body, such as the arms, legs, joints, back, or chest. It can come on suddenly and be mild or severe. The pain can last for a few hours, a few days, or sometimes longer (Hirsch, 2018). See examples listed below.

• Cold extremities
• Dehydration
• Difficulty breathing
• Exhaustion
• Fatigue
• Headaches
• High fevers
• Infection
• Joint pain
• Lung Infections R/T Complications
• Severe pain known as a (sickle cell crisis)
• Stroke
• Tachycardia
• Vertigo

Life Expectancy:  

• It is possible for sickle cell anemia patients to live well beyond the average life expectancy, as demonstrated in a case series of four women with the disease  three in the U.S. and one in Brazil who lived well into their eighties. This study was published in the ("New Sickle Cell Disease Research Shows Improved Patient Outcome", 2016).

Mode of inheritance:

• Sickle cell is a heredity disorder. If both parents have SCT, there is a 50% (or 1 in 2) chance that any child of theirs also will have SCT, if the child inherits the sickle cell gene from one of the parents. Such children will not have symptoms of SCD, but they can pass SCT on to their children (CDC, 2017). Sickle cell disease (SCD) affects millions of people throughout the world and is particularly common among those whose ancestors came from sub-Saharan Africa; Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy.

Importance of understanding the disease:

• Sickle cell is one of the first molecular disease to be recognized, more than 65 years ago. The classic sickle cell shape is produced only when the cells are in the deoxygenated state.  (Nussbaum, McInnes, Willard,Thompson, J. Thompson. M.& Hamosh, 2016). Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body.  Importance of understanding this disease is that it’s a non-curable blood disorder, with abnormal protein in their red blood cells. The organism suffers from the lack of oxygen. As the person starts losing healthy red blood cells, the cells turn into the sickles. That is where the name comes from.

Mutation / gene that cause the disease:

• Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin.

Prevalence of the disease:

• It has been estimated that over 72,000 people in the US are affected by the disease. Millions worldwide suffer complications from sickle cell disease. It is present in one in every 500 African-American births. Two million African-Americans, or one in 12, have the sickle cell trait.

Any known methods of testing and /or treatment:

Testing:

• A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test has been part of newborn screening for all children in the United States since July 1, 1985 (Fisher, 2016).

Treatment:

• Bone marrow transplant, also known as stem cell transplant, offers the only potential cure for sickle cell anemia. It's usually reserved for people younger than age 16 because the risks increase for people older than 16. Finding a donor is difficult, and the procedure has serious risks associated with it, including death  ("Sickle cell anemia", 2018).

Medications:

·         
       Antibiotics

·         Pain-relieving medications

·         Hydroxyurea (Droxia, Hydrea)

·         Vaccinations to prevent infections

·         Blood transfusions

Current studies relevant to the disease:

• Treatment of sickle cell disease represents a significant step toward improving outcomes and reducing the treatment burden for affected children and adults. children with SCD who received a stem cell transplant from a sibling with identical, matching tissues. new oral agent may be a safe, effective way to manage SCD by reducing the sickling of red blood cells. Oral Medication May Be Safe, Effective Alternative to Transfusion in Primary Stroke Prevention for Children with Sickle Cell Anemia Large Analysis Shows Stem Cell Transplant is Successful in Most Children with Sibling Donors Novel Therapy Decreases Red Blood Cell Sickling in Patients with Sickle Cell Disease ("New Sickle Cell Disease Research Shows Improved Patient Outcomes", 2015)

Any other pertinent information:

• Sickle cell anemia can make life more difficult, particularly for a child, who will need to deal with delayed sexual maturity and stunted growth. They will need to avoid things that can cause a crisis, such as certain medication that restricts blood vessels, high altitudes, and strenuous exercise.
• Those who are diagnosed with the sickle cell disease should avoid flying in airplanes as well as go to high altitudes because of the pressure.
• SCD is a disease that worsens over time.
• Support is offered and encouraged to utilize American Sickle Cell Anemia Association. This is a nonprofit organization, which provides services through a united way community partnership for individuals with Sickle cell disease.

***Important information I want to add:

• Sickle cell disease occurs more often among people from parts of the world where malaria is or was common. It is believed that people who carry the sickle cell trait are less likely to have severe forms of malaria
• People have gotten Sickle cell S/S mixed up with Lupus which is a systemic autoimmune disease. 
• The use of alcohol, "street drugs," and tobacco can greatly increase the risk of developing serious complications.
• Comprehensive care includes early diagnosis, preventive measures, treatment of complications, and ongoing patient education is encouraged.

References

Data & Statistics on Sickle Cell Disease CDC. (n.d.). Retrieved from https://www.cdc.gov/ncbddd/sicklecell/data.html

Fisher, K. A. (2016, December 05). Patient Education. Retrieved from https://www.hopkinsmedicine.org/Medicine/sickle/patient/index.html

Hirsch, L. (Ed.). (2018, October). Sickle Cell Crisis (Pain Crisis) (for Teens). Retrieved from https://kidshealth.org/en/teens/sickle-crisis.html

New Sickle Cell Disease Research Shows Improved Patient Outcomes. (2015, December 06). Retrieved from https://www.hematology.org/Newsroom/Press-Releases/2015/4746.aspx

Nussbaum, R.L., McInnes, R.R., Willard, H.F., Thompson, J. S., Thompson. MW., & Hamosh, A. (2016). Thompson & Thompson Genetics in medicine. Philadelphia: Elsevier.

Sickle-Cell Anemia. (n.d.). Retrieved from http://symptoms.tips/tag/sickle-cell-anemia/

Sickle cell disease - Genetics Home Reference - NIH

https://ghr.nlm.nih.gov/condition/sickle-cell-disease

 Sickle cell anemia. (2018, March 08). Retrieved from https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/diagnosis-treatment/drc-20355882

Sickle Cell Anemia Prognosis. (n.d.). retrieved from https://sicklecellanemianews.com/sickle-cell-anemia-prognosis/