Sickle Cell Disease

 Paul Williams, a baritone singer in


The Temptations, a choreographer, and a victim of sickle cell disease.


















Sickle cell disease is a recessive genetic blood disorder with overdominance, characterized by red blood cells that are in an abnormal, rigid, crescent shape.

1910-Noted by Dr. James B. Herrick, a patient from the West Indies had an anemia characterized by unusual crescent shaped red cells.
1927-Hahn and Gillespie showed that sickling of the red cells was related to low oxygen levels.
1940-Sherman (a student at Johns Hopkins Medical School) noted that low oxygen altered the structure of the hemoglobin in a molecule.
1984-Bone marrow transplantion in a child with sickle cell disease produced the first reported cure.

Symptoms include:

• shortness of breath
• dizziness
• headaches
• coldness in the hands and feet
• jaundice (yellowish color of the skin or whites of the eyes)
• Common symptom of sickle cell disease crisis: sudden pain throughout the body

Causes:

• inherited, has two sickle cell traits, one from each parent
• those that only have one sickle cell trait and one normal gene has sickle cell trait. They produce sickle cell genes and normal genes, but usually live a normal life.
• single letter change in DNA, which alters one amino acid in the hemoglobin protein

Diagnosis:
A simple bloodtest during any time in a person's life will show if that person has sickle cell disease. All of the states in the United States make testing for sickle cell disease in an infant screening program mandatory.

Treatment/Cure:
Bone marrow transplant, although used only in select cases, prove to be about 85% successful in curing sickle cell disease. The only other treatment is over the counter medicines given as an infant and is continued throught the person's life.

Prevention:
There is no prevention of sickle cell disease. It is a trait passed down through generations.

Current Research:
The main research currently being conducted by the Center For Sickle Cell Disease is different treatments.

Sickle Cell support foundation: http://sicklecelldisease.org/
Sickle Cell Disease Association of America

Sources:

• http://www.sicklecell.howard.edu/research.htm
• http://familydoctor.org/online/famdocen/home/common/blood/550.html
• http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_Treatments.html
• http://www.webmd.com/cancer/bone-marrow-transplant-for-sickle-cell-disease