No one knows exactly when sickle cell anemia was first reported, but in areas of the world that have high numbers of people with the sickle cell trait also have high rates of malaria. Malaria is a tropical disease caused by a parasite carried by the mosquitoes. Malaria parasites are micro-organisms that belong to the genus Plasmodium and there are over 100 species that can affect animal species and various reptiles. One theory from the 1940’s is that genetic mutation of sickle cell trait occurred thousands of years ago and increased the chance that sickle cell carriers could survive malaria. Survivors then passed the mutation to their offspring. The trait became established in areas where malaria was common.
Sickle cell anemia (a deficiently in red blood cells) is an inherited disease of the blood which is caused by a biological defect in one gene of a person, which is not contagious. It affects the doughnut shaped red blood cells, which have abnormal hemoglobin (a protein inside red blood cells that allow them to carry oxygen) called “S” for sickle. Hemoglobin S is much less soluble (unable to dissolve) than normal hemoglobin. When inside red blood cells, it forms tiny crystals that push through the membranes of cells, causing the cells to become shaped like sickles. The hemoglobin changes blood cells from smooth to a stiff. These abnormal cells cause a blockage of blood flow in blood vessels, then the cells do not get enough oxygen and waste products from the cells cannot be taken away.
There are three major types of sickle cell disease:
- 1 Sickle cell anemia, or hemoglobin SS disease, the most common type. The person has two copies of the Hemoglobin S gene.
- 2 Hemoglobin SC is the rare type of sickle cell disease where a person has one copy of the hemoglobin S gene and one copy of the hemoglobin C gene. It is also called sickle cell C disease and the symptoms are milder than those of sickle cell anemia.
- 3 Less commonly, a person can have one hemoglobin S gene and another mutant hemoglobin gene that causes thalassemia another blood problem, also called sickle cell beta-thalassemia disease and the symptoms are mild.
Sickle cell anemia can affect African Americans, Hispanic, Mediterranean, Middle Eastern, and South Asian descent. It is prevalent in African Americans occurring in about 1 in every 500 births and in about 1 out of every 1,000 to 1,400 Hispanic births. Symptoms usually begin around the age of 6 months and last a lifetime. If only one parent has the gene, the child will not inherit the disorder, but will be a carrier for the next generation.
The disease can affect the bone marrow, kidneys, and liver, yellowing of the whites of eyes called jaundice, lymph glands, spleen, liver and thymus. The two main symptoms of sickle cell anemia are constant mild to severe pain in any part of the body (crisis), but it commonly occurs in the back, stomach and joints that can last from a few hours to a few weeks or more. Because sickle cells die much faster than normal red blood cells (living from 10-20 days instead of 120 days) anemia is also a problem. There are not enough red blood cells to carry oxygen to the body’s tissue causing excessive tiredness. Since sickle cells damage the spleen (the organ that fights infections) causing infections to occur more often than in healthy people and infections tend to become more serious, such as pneumonia, lung disease or bloodstream infections.
The goal of sickle cell treatment focuses on preventing crisis, relieving symptoms when they occur and minimizing complications. A healthy well-balanced diet consisting of folic acid (vitamin B) found in leafy vegetables, grains, and fruit. It helps the body to produce more red cells. Iron is the mineral in hemoglobin that binds to oxygen and is found in dark leafy vegetables like spinach and whole grains, beans, dried fruit, and red meat. Vitamin C helps the body absorb iron and helps prevent infections. When a person becomes dehydrated, the volume of liquid in the blood decreases, which means blood cells become crowded. Staying well hydrated keeps the cells from sticking to each other and helps the blood flow more smoothly along with keeping the red blood cells full of liquid.
There is no cure for sickle cell anemia but research is making progress with advanced medications, stem cell transplant from cord blood, stems cells from bone marrow and gene therapy. Until recently about 50 percent of children with sickle cell anemia died before the age of 50, but now with modern treatment and pain management, along with interventions to prevent infections, the young will continue to develop and grow. With regular check-ups and continuous testing from health-care professional, sickle cell anemia can be managed until a cure is finally found.