Sickle Cell Anemia
Sickle-shaped red blood cellsSickle cell disease is a disorder that affects the red blood cells. Red blood cells use a protein called hemoglobin to transport oxygen from the lungs to the rest of the body. Normally, red blood cells are round and flexible so they can travel freely through the narrow blood vessels.
Patients with sickle cell disease have a mutation in a gene that codes for part of the hemoglobin protein. As a result, hemoglobin does not form properly, causing red blood cells to be oddly shaped. These irregularly shaped cells get stuck in the blood vessels and are unable to transport oxygen properly, causing pain, frequent infections, and damage to the organs. Patients with sickle cell disease only survive to be 20 to 30 years old. About 1 in 500 babies born in America has the disease.
The normal hemoglobin nucleic acid sequence looks like:
T A C C A C G T G G A C T G A G G A C T C
A T G G T G C A C C T G A C T C C T G A G