Thalassemia Disease Hemoglobin

Thalassemia Disease Hemoglobin Thalassemia What is Thalassemia and what does it do? Thalassemia is a disease first discovered by Dr. Thomas B. Cooley in 1925. Its an inherited genetic disorder that causes our bodies to produce fewer healthy red blood cells and hemoglobin. Hemoglobin is a substance in red blood cells that carries oxygen all throughout our bodies. It also carries two chains called alpha globin chains and beta globin chains. Alpha globin chains are made with four genes. Alpha Thalassemia happens when two to four of those genes are missing. It can cause serious damage. Beta Globin chains are made with two genes and when one of the genes are also missing or changed, Beta Thalassemia occurs. Red blood cells will not perform properly when these chains are missing or altered. When red blood cells cant perform tasks and work, they die and your body doesnt function correctly, leading to serious consequences. Thalassemia can be diagnosed by taking blood tests, special hemoglobin tests, or having a complete blood count, otherwise known as CBC. CBC tests are used to provide information about the amount of hemoglobin and the different kinds of blood cells in a sample. Hemoglobin tests are used to measure the types of hemoglobin in a sample. It is usually diagnosed in early childhood due to the fact that signs and symptoms of this disease appear in the first two years of a humans life. Doctors also do tests on the amount of iron in the blood to find out if the Thalassemia occurred because of iron deficiency. Since Thalassemia is an inherited disorder, a simple way to diagnose it would be to conduct family genetic studies. This helps by looking at the history of family traits, similar to a pedigree. There are ways to tell if a person has Thalassemia. Symptoms can include slowed growth and delayed puberty in children and teens. Bone problems can make the bones become wider than normal because of expanding bone marrow, more fragile, and easy to break. These bone problems occur mainly in the face. More signs of Thalassemia can be an enlarged spleen. People with Thalassemia have hard-working spleens. In some cases when a spleen becomes too large, it must be removed. The heart and liver might grow bigger as well. Some peoples appearance becomes pale and listless. They lose their appetites, have dark urine, and get jaundice as a result of Thalassemia. They might also feel tired and drowsy. Carriers of Thalassemia often show no signs of the disease. Unfortunately, because Thalassemia is passed on from parents to offspring, it cannot be prevented, however, it can be treated. Treatments for Thalassemia include Blood Transfusions, Iron Chelation Therapy, Folic Acid Supplements, Blood and Marrow Stem Cell Transplant, as well as treatments that researchers are still conducting experiments on. When given a blood transfusion, the patient receives new healthy red blood cells and more hemoglobin through a needle being inserted into their vein. Iron Chelation Therapy is needed and used to remove excess iron from the body using two medicines, Deferoxamine and Deferasirox. Deferoxamine is a liquid given under the skin with a pump, and Deferasirox is a pill that is taken daily for patients with Thalassemia. Both may cause side effects such as loss of hearing and vision, headaches, nausea, joint pain, fatigue, vomiting, and diarrhea. Thalassemia does not affect a person based on gender, but it is more common in some nationalities more than in others. For example, Alpha Thalassemia mostly occurs in people of the Southeast Asian, Indian Chinese, or Filipino origin, while Beta Thalassemia mainly occurs in people of the Mediterranean, Asian, or African origin. Even though it is more common in these nationalities, it does not mean that others are not at risk. It affects all people. People who live Thalassemia today go through daily treatments including taking folic acid supplements. Many people have been cured and blood screening have lowered the amount of infections in blood transfusions. Also new treatments are becoming available, and making it easier for people with this disease to take them. People who have Thalassemia are recommended to always wash their hands, avoid crowds during cold and flu season, keep skin around blood transfusion areas very clean, and to contact their doctors if a fever occurs.