Introduction to Disorder:
Sickle Cell Anemia is a disease in which someone carries abnormal hemoglobin (Hemoglobin S). Hemoglobin is a protein in red blood cells responsible for carrying oxygen throughout the body, however when people produce Hemoglobin S, it causes the red blood cells to distort into a crescent shape and become fragile, this interrupts healthy blood flow and leads to anemia.
Millions of people worldwide are affected by sickle cell anemia; it is most common among people of Mediterranean, African, Middle Eastern, Asian and Latin American heritage. Each year, about a quarter of a million children are born with the disease. According to the World Health Organisation, approximately 5% of Earth’s population carries trait genes for hemoglobin disorders. The median age of death of male sufferers is 42 years and 48 years for females.
Signs and symptoms of sickle cell anemia vary amongst individuals. One of the most common symptoms are episodes of pain known as “Crisis”, these pains can last for hours to a few weeks. Delayed growth is another symptom of the disease, due to a shortage of healthy red blood cells it causes delayed growth in infants and children and puberty is delayed amongst teenagers. A person may also experience vision problems; this is due to the sickle cells blocking blood vessels in the eye, which can cause harm to the retina. Sickle cells can cause significant harm to an organ that helps to fight off infections; this leaves sufferers prone to frequent infections throughout the body.
About the Genetics:
Sickle cell anemia is due to a mutation in the hemoglobin-Beta gene found on chromosome 11 (one of the 23 pairs of chromosomes in the human body).
Sickle cell anemia is a recessive and inherited condition. In order to have the disease the abnormal hemoglobin S gene must be inherited by both of a person’s parents. If a hemoglobin S gene is inherited from only one parent and a normal hemoglobin gene is inherited from the other parent, their child will have the sickle cell trait but will not be a sufferer of sickle cell anemia.
Detection and Treatment:
Sampling the amniotic fluid surrounding the mother’s womb can test for the sickle cell gene in an unborn baby. In most places, newborn babies can undergo a screening test, which determines the type of hemoglobin each individual produces, any baby who produces hemoglobin S will then be diagnosed with sickle cell anemia. In adults, a blood sample is taken from a vein in the arm, in younger children and infants it is usually drawn from a finger or heel and sent to a laboratory where it is tested for hemoglobin S. If the screening test results are positive, additional tests will be taken to determine how many sickle cell genes are present.
A bone marrow transplant is the only known cure for patients with sickle cell anemia, however it is mainly reserved for people 16 years and younger, as risks increase in older patients. Finding a donor for a bone marrow transplant is extremely difficult and the procedure is of very high-risk, sometimes resulting in death. Even when the operation is successful the body may later on reject the transplant, which leads to harmful complications. Most treatments among sufferers are aimed at reducing and relieving symptoms such as crises and avoiding any possible complications. Blood transfusions are used to increase the number of normal red blood cells, however they carry the risk of iron buildup therefore patients may need further treatment to reduce iron levels. People with sickle cell anemia often take different types of medications such as antibiotics and pain relieving medications such as hydroxyurea.
Life for people living with sickle cell anemia can make it difficult, especially for children who will have to deal with stunted growth and delayed sexual maturity. Patients will have to avoid high altitudes and high-impact exercises in order to prevent a crisis. People describe the feeling of crisis as “repeatedly being stabbed with a butcher knife in the same spot, nonstop.” Most patients will have to deal with fatigue, bacterial infections, progressive tissue and damage to the organs. Patients generally will grow up having to take penicillin daily in order to prevent infections. A sickle cell anemia sufferer’s diet will consist of large portions of protein, vitamins and liquids. New treatments for sickle cell anemia are prolonging life and improving quality of life for sufferers. As recent 45 years ago, the average life expectancy was 14 years old, however now patients can reach over 50.