Sickle Cell Disease
By: Reagan Lloyd Period 4
Facts
- Also known as sickle cell anemia
- It is a single gene mutation
- first recognized by Dr. James B. Herrick in 1910
- people with this disease mostly live until their mid 40's
- passed from parent to offspring through genes
- recessive trait
- most common inherited blood disorder in the united states
- effecting 70,000 to 80,000 Americans
- mostly found in African Americans
What is it?
Sickle cell disease changes the red blood cell into a curved or sickle shape. This then can block small blood vessels. Red blood cells and oxygen then have a hard time getting through and into the rest of the body. This action then causes pain and swelling. It is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11.
Some symptoms
- Fever
- yellowed skin (Jaundice)
- short breath
- Weakness
- pain and swelling
- vision changes
- chest pain
- pale skin
- headache
- dizziness
- sudden pain throughout body
What tests can help me know if i have sickle cell disease?
Some tests include:
- Newborn screening- Gets blood from heel and it gets shipped off to be tested.
- Hemoglobinophaty (HB) evaluation- Needle gets blood from vein in arm and doctors evaluate it to see if there is anything wrong.
- DNA analisis- They take a piece of DNA, process it and then get results.
- Complete blood count- Blood test preformed to view health.
Are there treatments?
Some treatments include:
- Penicillian- given 2 times a day from 2 months old to at least 5 years old
- Pneumococcal vacceine- for 2-5 years of age
- Hydroxyurea or Hydrea- First ever drug to help prevent disorder
Support Groups?
There is a support group for sickle cell disease called ASCAA. Also known as the American Sickle Anemia Association. They provide services through diagnostic testing, evaluations, Counseling, and are supportive to people with the risk and who have the disease.