Sickle Cell Anemia and Red Blood Cell Physiology
Sickle cell anemia is a disorder in which the body makes crescent-shaped red blood cells. Normal red blood cells are disc-shaped. They move easily through your blood vessels and contain an iron rich protein called hemoglobin. This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin due to a mutation in the hemoglobin chain.
Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia. And about 2 million Americans - and one in 12 African Americans - have sickle cell trait (this means they carry one gene for the disease, but do not have the disease itself).
Sickle-cell anemia is an illness in which the shape of red blood cells is altered to a sickle-like shape (Peachley, n.d.). It is basically the sickling of erythrocytes. The protein molecule, hemoglobin, is the reason for this altered shape. Hemoglobin is found on red blood cells and it is used to provide oxygen to tissues (Peachley, n.d.). In sickle-cell anemia the altered shape of the red blood cells prevent them from passing through blood vessels and this will result in an inadequate amount of oxygen being delivered to tissues in the body (Peachley, n.d.). Sickle cell anemia was discovered because of gel electrophoresis, which is a method that evaluates the charges of the hemoglobin. Gel electrophoresis, the inheritance pattern, and hemoglobin
Sickle cell anemia affects millions of people around the world, with about 70,000 Americans inheriting the disease, and many others carrying the sickle cell trait (Genetics). This disease mostly affects people that have African and Mediterranean roots, mostly because this disease provides protection for people from malaria which kills 3,000 African children daily (Malaria). Malaria is a deadly infectious disease that is transmitted by to humans when mosquitoes sting them (Learn). Sickle cell anemia is the most common blood disorder that is a result of a mutation in the genes causing a mutated form of hemoglobin, the protein that helps red blood cells transport oxygen to the body from the lungs. The mutated form of hemoglobin, hemoglobin S, causes the red blood cells to alter their shape into a fragile crescent or sickle shape, which is the main cause for any negative effects a person with sickle cell anemia might have.
INTRODUCTION — Sickle cell disease (SCD) is an inherited group of disorders characterized by the presence of hemoglobin S (HbS), either from homozygosity for the sickle mutation in the beta globin chain of hemoglobin (HbSS) or from compound heterozygosity of a sickle beta globin mutation with another beta globin mutation (eg, sickle-beta thalassemia). The hallmarks of SCD are vasoocclusive phenomena and hemolytic anemia. Sickle cell trait is a benign carrier condition characterized by heterozygosity for the sickle hemoglobin mutation.
Sickle cell disease is an inherited disease where the red blood cells in the body are produced abnormally by bone marrow as crescent shaped red blood cells. Unlike normal red blood cells, sickle shaped cells are unable to deliver much oxygen to other parts of the body due to the abnormal hemoglobin. Sickle cell’s are stiff and sticky and tend to clump together between blood vessels that can cause pain, damage to the organs, and infections. If a child inherits this disease they can be healthy throughout their life or need special care. “In the United States, SCD is most common among blacks and Hispanics. SCD affects about 1 in 500 black births and about 1 in 36,000 Hispanic births in this country. SCD is also common among people with family from Africa, the Caribbean, Greece, India, Italy, Malta, Sardinia, Saudi Arabia, Turkey or South or Central America (March of Dimes)”.
According to the U.S. National Library of Medicine it states that sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Sickle cell disease has lifelong effects on the body that causes continuous pain and health burdens. “Sickle cell disease (SCD) is a group of disorders affecting the haemoglobin protein leading to red blood cell sickling” (Ngo, 244). The disease can not be contracted from one person to another by airborne or direct contact. Sickle cell disease is inherited from both parents that carry the actual disease. If one parent has the disease and the other parent has the trait then it is a 50% chance that the child would either have the disease or be a carrier of the gene trait. “People with the disease are born with it and can experience complications of anaemia and organ damage to any part of the body starting in infancy” (Ngo, 244). Pain, anemia,
The gene for hemogoblin-S (which causes the disease) is the most common inherited blood condition in America; although most people only inherit one copy of the gene for HbS, while the other gene, hemogoblin-A, is normal, and can override HbS, blocking the disease. These people have the HbS trait, but not the disease, therefore leading a normal life. For an offspring to acquire the disease, both parents must have the HbS gene, yet the child only has a 25% chance of having Sickle Cells. You cannot catch the disease, you are born with it and it is present for life. There are many complications and harmful effects as the result of the Sickle Cell Disease. The disease causes hemoglobin in the red blood cells, when it does not receive sufficient oxygen, to form into long, sickle shapes with a sticky, chemical surface. When blood cells are this form, they cannot go through the capillaries, blocking off both blood and oxygen. Fortunately only 20% of all red blood cells become Sickle Cells; the sickle cells have a shorter life span; and most blood cells go through the capillaries before becoming sickle-shaped. The most painful effect known from Sickle Cell Disease are episodes of pain called Sickle Cell Crisis, where the body is in need of oxygen, either from physical activities or a sickle blood cell blocking blood passages that lead to organs.
“In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans” (NHLBI, NIH, Who is at risk for sickle cell anemia). SCD is a disease that is a serious disorder in which the body can make normal blood cells and sickle shape cells. Sickle shape cells can block the blood flow in your vessels and cause pain or organ damage also put you in risk for infections. SCD has no cure available but there are many treatments out there to deal with the complications of it. From over years treatments did get better from way back in the day doctors have learned. Sickle cell disease has lack of attention and funding because it’s only affecting African American the most.