Sickle Cell Anemia By: Stefany kaminski

Sickle Blood Cells clogging the blood vessel
  • What is Sickle Cell Disease?
  • is a disorder associated with changes in the red blood cell shape caused by a point mutation in one polypeptide found in the hemoglobin (the blood's main oxygen-carrying protein)
  • What is the Gene that the Mutation Occurs in to Cause Sickle Cell Disease and What Protein is Produced?
  • The Sickle Cell beta globin gene (5 types) is the mutation, producing the hemoglobin protein (carries oxygen from the lungs to the rest of the body). Someone with sickle cell hemoglobin and one with normal hemoglobin have different net charges. Sickle cell might have 2-4 more positive charges than normal, with the difference suggesting that the normal and sickle cell amino acid sequences are different. Sickle cell hemoglobin was more positively charged than the corresponding peptide in normal hemoglobin, with sickle cell hemoglobin having less of the amino acid glutamic acid and more of the amino acid valine. The peptide had been cut from one end of the beta globin protein of the hemoglobin molecule.
  • How and When was Sickle Cell First Discovered and Documented?
  • Dr. Ernest E. Irons studied his patient Walter Clement Noel who was reluctant to exercise, finding any physical exertion hard, and experience dizziness, chills, fevers, and bad coughs. After doing a microscopic examination of Noel's blood, Irons noticed that he had a deficiency of red blood cells (anemia) and found that some of the blood cells were pear-shaped and elongated. He told his superior Dr. James B. Herrick, who published a November 1910 issue in the Archives of Internal Medicine regarding Noel's visits to the hospital.
  • Later, Dr. Victor Emmel, theorized that people with this unknown blood disease had previous normal cells that transformed into a sickle-shaped cell. He suggested that a diagnosis of the disorder could now be based upon solely the examination of the blood.
  • Dr. Verne R. Mason published a report about the fourth patient to have sickle-shaped red blood cells in 1922. The doctor gave the new disease a name: sickle cell anemia. Mason stressed that the disease was inherited
  • The incident Rate in the United States:
  • The exact number is unknown, but it is estimated that if affects about 100,000 Americans yearly, specifically 1 in 365 African-American births, 1 in 16,300 Hispanic-American births, and approximately 1 in 13 African-American babies are born with the sickle cell trait
  • Incident Rate in the World:
  • There are approximately 300,000 total births. Specifically affection about 91,000 babies in Nigeria and 40,000 babies in the Congo
  • Specific Populations or People Affected:
  • In the United States, the main race of people affected are African Americans. In the entire world, it is most common in the people of Africa, India, the Caribbean, the Middle-East, and the Mediterranean. This may be due to the fact that carriers of a mutation in the beta-sub-unit of hemoglobin are more resistant to malaria, giving this mutation a beneficial outcome to some more susceptible to mosquitoes.
  • Symptoms:
  • Anemia, severe pain, regular infections, stunted growth, loss of immune function, and strokes. Places where the sickle cell disease prevents oxygen from going to (spleen, kidneys, liver, lungs, heart) will eventually die. People will also experience jaundice (yellowish skin and eyes due to liver damage), episodes of pain called crises from the sickle-shaped red blood cells being stuck in the blood vessels. Organ damage and other symptoms can shorten their life by 30 years.
  • Red blood cells don’t live as long as healthy, normal red blood cells, have low red blood cell counts
  • Long-term effects of disease process: acute chest syndrome, damage to major organs, stroke, pregnancy issues (high blood pressure, low infant birth weight)
  • How is Sickle Cell Disease Diagnosed?
  • Most states routinely screen newborns with an easy blood test, and blood samples will also be used in a test called hemoglobin electrophoresis
  • How is Sickle Cell Treated?
  • In babies and young children, doctors prescribe a daily dose of penicillin, preventing deadly infections. They are also told to take folic acid in order to help in aiding the the rebuilding of red blood cells. The more simple approach is to take plenty of rest, drink large amounts of water, and to take it easy. Other steps are blood transfusion, providing patients with healthy blood cells and, in severe cases, bone marrow transplant.
  • What is the Prognosis?
  • The patient's life expectancy is greatly reduced. Some people show no symptoms for year, while others will live no longer than infancy or early childhood. The most common cause of death from this disease is a bacterial infection with strokes, bleeding into the brain, and kidney, heart, or liver failure close behind. In 1973, the average life span for someone with sickle cell was 14 years, but now it is currently 50 years or over.
Inheritance pattern for the sickle-cell gene HbS
  • The Genetic Pattern of Inheritance:
  • Autosomal recessive pattern (child won’t inherit unless both parents will pass down a defective copy of the gene)
  • Current Research Being Conducted:
  • CDC’s (Centers for Disease Control and Prevention) Sickle Cell Data Collection Program: Medical care for Sickle Cell Disease is often in emergency department in hospitals and clinics; the purpose of this study is to use the data from the Sickle Cell Data Collection Program to describe patterns of emergency department use for treat-and-release visits by California's sickle cell disease population and compare and contrast new findings using the results of previous studies.
  • Main findings: among the 4,636 patients in California, almost 9 out of 10 had one or more treat-and-release emergency department visits during a 10 year study period (2005-2014). The average number of visits each year to the emergency departments for the participants in the study was 2.1 visits in a single year. About 5 in 10 patients dealing with sickle cell disease experience no emergency department treat-and-release visits, and about 3 in 10 patients experience between 1 and 3 visits and little use of emergency departments. About 1 in 10 patients went to the emergency departments 4-10 times and approximately 1 in 30 patients visited the emergency department 11 or more times. Young adults and older adults had a higher number of emergency visits than children.
  • These studies are important because researchers can study these recorded ED visits to better comprehend the changes in health care as well as health policy, possible leading to the extension of life for people with SCD.
  • The second study: NHLBI is supporting research on better treatments to alleviate the pain that sickle cell disease patients go through. They produced trials using a newly established bone marrow and stem-cell transplant procedures that have cured a small number of patients with SCD. There is many more researches that need to be done to fully understand the possible health implication of the sickle cell trait.
  • new gene findings could lead to breakthrough therapies because genes can impact the formation and production of a type of hemoglobin that directly influences the severity of the condition.
  • research is currently being conducted to reduce the risk of serious complications such as stroke, respiratory issues, and a higher risk of bacterial infections caused by a weakened immune system.

Works Cited:

The inheritance pattern for the sickle-cell gene HbS. Human Diseases and Conditions, Accessed 1 Feb. 2017.

James, Andra H. A microscopic view of sickled red blood cells causing anemia disease. ModernMedicine Network, UBM Medica, 2017, Accessed 1 Feb. 2017.

Jones, Phill. Genes and Disease. E-book, New York, Chelsea House, 2008.

"Sickle Cell Anemia Is on the Rise Worldwide." Written by Rhitu Chatterjee. Shots, National Public Radio.

Sickle cell blood cells clogging the blood vessel. 2017. Cleveland Clinic, Accessed 1 Feb. 2017.

"Sickle Cell Disease." Centers for Disease Control and Prevention, 31 Aug. 2016, Accessed 1 Feb. 2017.

"Single Gene Disorders." Learn. Genetics, University of Utah, Accessed 1 Feb. 2017.

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