Sickle cell anemia, or sickle cell disease, is a genetic disease and red blood cells that are normally shaped like a disc have instead a crescent shape. This causes them to have a difficult time going through small vessels throughout the body. A mutation on the hemoglobin-Beta gene on chromosome 11 causes sickle cell anemia. For biochemistry of sickle cell anemia, a substitution takes place on amino acid 6. An A nucleotide is substituted by a T nucleotide which causes a different codon to be present. Hemoglobin-Beta is a gene that provides information to make beta globin proteins. Beta globin proteins are components of hemoglobin, which transports oxygen throughout the body. Sickle cell anemia is inherited by an autosomeal recessive pattern. This means when both parents pass on the gene, sickle cell anemia develops but sickle cell anemia isn’t sex-linked. There are different types of sickle cell disease (SCD) but they have similar symptoms. The symptoms are different in severity. Emotional effects on the body may be excessive fatigue or irritability. Some symptoms may be bedwetting, jaundice, swelling and pain in hands, swelling and pain in feet, and frequent infections. Also, there may also be pain in the chest, back, arms, and legs. In babies, fussiness may be a symptom. Some diagnostic tests for sickle cell anemia are screenings at birth, a pre-birth test, blood tests, and Hb electrophoresis. In the United States, newborns are tested for sickle cell disease. Treatments for sickle cell disease include rehydration with intravenous fluids (this helps red blood cells go to their normal shape since they’re more likely to be in a sickle shape when dehydrated), treating infections since infections can result in a sickle cell crisis or result from one, blood transfusions, supplemental oxygen (to help breathing be easier for the patients and help oxygen levels in the blood increase), pain medication, Hydroxyurea (a prescription drug which can help increase the production of fetal hemoglobin), immunizations to help prevent infections, and bone marrow transplants have also been used as a treatment for sickle cell anemia. Hydroxyurea has a black box warning from the FDA. Hydroxyurea can harm pregnancy, damage blood vessels, and cause a rash from radiation to reappear. A patient should have a hematologist as a principle healthcare provider or have one who’s in regular communication with a hematologist. Bone marrow transplants are the only potential cure for sickle cell anemia and other treatments are usually to avoid a sickle cell crisis, complications, and relieve symptoms. A sickle cell crisis is a severe attack when blood vessels become blocked or organs in the body are damaged defective red blood cells. A sickle cell crisis causes lots of pain. Bone marrow transplants are usually for those under the age of 16 because there are increased risks for those over 16. Finding a donor for a bone marrow transplant is difficult and there are many serious risks for a bone marrow transplant. A healthy diet for those with sickle anemia can help produce more blood cells and an increase in intake of water can reduce chances of a sickle cell crisis. Patients with sickle cell anemia may work but an absence from work may be frequent. Their job shouldn’t involve extremely high or low temperatures and/or have a lower oxygen concentration. Dr. Roland B. Scott who is a pediatrician and an allergy expert has international recognition for being an authority in sickle cell disease and helping to fight against it. He helped establish the Sickle Cell Anemia Control Act of 1971 and Dr. Scott was the founder of the Howard University Center for Sickle Cell Disease. St. Jude has one of the largest Sickle Cell programs in the United States and many hospitals provide comprehensive care for patients with sickle cell anemia. The National Heart, Lung, and Blood Institute has been researching sickle cell disease since 1948 and since 1972, the NHLBI has spent over one billion dollars researching sickle cell disease. If both parents have a sickle cell trait, then their child will have a one in two chance of having the sickle cell trait. The child will have a one in four chance of having sickle cell anemia. Sickle cell anemia has a recessive inheritance pattern. Sickle cell disease affects about 100,000 Americans. In parts of the world where malaria is or was more common, sickle cell anemia occurs more in those places. Sickle cell disease is more common in some ethnic groups including those with African descent, African Americans, Hispanic-Americans from Central America and South America, and those with ancestors from the Middle East, ASia, India, and the Mediterranean. In the United States sickle cell disease is present in one out of every 365 African-American births and one out of 16,300 Hispanic-American births. Genetic counseling and testing may help give information if you are more likely to pass the sickle cell disease gene to your child. Blood tests can also check for hemoglobin S and show if someone has sickle cell anemia since a result showing a defective form of hemoglobin can show if someone has sickle cell anemia. Sickle cell disease was present in Africa for more than 5,000 years and the “discovery” of sickle cell disease was in 1910 in the U.S. by Walter Clement Noel. Walter Clement Noel went to Dr. James B Herrick, who was a cardiologist assigned by Dr. Ernest Irons to examine Noel. After looking under the microscope at Noel’s red blood cells, Dr. James B Herrick described Noel’s blood cells to have the shape of a sickle. When more cases of sickle cell disease occurred, most cases were seen to occur in those with descendents from Africa. In 1951, Dr. Linus Pauling and Dr. Harvey Intano discovered that hemoglobin has a different chemical structure in those with sickle cell disease. The “Sickle Cell Society” supports those affected by sickle cell disease to help improve their quality of life and also represent them. In many states in the United States, organizations help those with sickle cell disease. Sickle cell support services also can help patients and families in many ways, including financially. Many organizations help fundraise, including Sickle Cell Society and Tackle Sickle Cell. Sickle cell disease is a significant problem in many countries and public awareness may be high. Research is still being done to learn more about sickle cell anemia and many treatment options are available but a cure hasn’t been discovered. Emerging therapies and new research for the treatment of sickle cell disease is showing a significant step in helping to treat patients with sickle cell disease.