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 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 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)”.
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 diseases (SCD) are diseases which are caused due to disorder of hemoglobin in hour body. Hemoglobin is a protein that transports oxygen through the red blood cells. People with sickle cell diseases have hemoglobin S which shapes the red blood cells in a sickle shape. Sickle cell diseases cause painful vaso-occlusive crises (VOC), stroke, acute chest syndrome, splenic sequestration, chronic pulmonary and renal dysfunction, and a vascular necrosis of the joints. It also causes physical and psychological stress of illness. Sickle cell diseases are treated in many ways, people with SCD undergo many optional therapies which include, chronic blood transfusion, hydroxyurea and allogeneic hematopoietic cell transplantation (allo-HCT), this
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 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.
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,
Sickle cell was first discovered by Dr. Ernest irons that was a hospital intern who look over a patients cell which seem to be different he called them “sickle cell shaped”. Sickle cell is know as a negro inherited diseases which is incorrect not only African Americans have this diseases. Many other races are effect by this diseases and regions all over the world such as India, Mediterranean countries, South American. In this case sickle disease work kind of like vaccination for malaria another diseases, this is the most common inherited disease in American. Anyone who has sickle trait and have a baby with someone who has the trait also can bring a baby into the world the world with SCD.
The RBCs of a patient with sickle cell disease has 40% abnormal beta hemoglobin chains which form the hemoglobin S (HbS), inherited from one or both parents, thus possessing two of these alleles and a total hemoglobin of 80-100%. A carrier of this genetic disorder would have one HbS and HbA allele. In decreased oxygen conditions, the RBCs of the SCD individual resemble a sickle or half-moon shape which causes it to stick together thereby blocking blood flow in the vessels causing pain in the affected joints. This is known as a “vaso-occlusive event (VOE)” (p. 870) and it results in increased heart rate, reduced pulse, low blood pressure and decreased capillary refill. VOE also leads to reduced oxygen capacity of the hemoglobin reaching the tissue and other parts of the body leading to ischemia. In severe cases and with repeated ischemia, the organs of the body such as spleen, liver, heart, kidney, brain, joints, bones, and retina gradually decline in activity and function. (Ignatavicius & Workman,