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thalassemia
This document discusses thalassemia, an inherited blood disorder that affects the body's ability to produce hemoglobin and red blood cells. There are two main types: alpha thalassemia affects production of alpha protein chains, while beta thalassemia affects beta protein chains. Signs and symptoms include anemia, jaundice, fatigue and pale skin. Diagnosis involves blood tests. Treatment options are regular blood transfusions to replenish red blood cells and iron chelation therapy to remove excess iron from transfusions. Prevention involves public education, carrier screening, genetic counseling and prenatal diagnosis.
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thalassemia
- 1. The university ofGeorgia Atheer ahmed 1330129 Hematology THALASSEMIA
- 2. THALASSEMIA Thalassemia isa group of inherited blood disorders that affect the body's ability to produce hemoglobin and red blood cells. Patients have a lower-than-normal number of red blood cells in their bodies and too little hemoglobin. In many cases the red blood cells are too small. Our red blood cells carry hemoglobin. Hemoglobin, a protein, carries the oxygen we breathe in through our lungs and transports it to the rest of the body. A spongy material inside some of our bones, bone marrow uses iron that our body takes from food and makes hemoglobin.
- 3. Types of Thalassemia Two alpha globin and two beta globin protein chains make up hemoglobin. There are two types of thalassemia: Alpha Thalassemia The alpha thalassemia patient's hemoglobin does not produce enough alpha protein. This type is commonly found in southern China, Southeast Asia, India, the Middle East, and Africa. Beta Thalassemia We need two globin genes to make beta globin chains. We get one from each parent. If one or two of these genes are faulty, it produces beta thalassemia.
- 4. Signs and SymptomsOf Thalassemia Signs And Symptoms Of Thalassemia a) The majority of infants with beta thalassemia will not have symptoms until they reach six months, because they start off with a different type of hemoglobin called fetal hemoglobin. After the age of six months "normal" hemoglobin starts replacing the fetal one. b) People with thalassemia mainly have anemia-like symptoms. i. Jaundice ii. Fatigue iii. Pale skin iv. Cold hands and feet v. Shortness of breath
- 5. Diagnosing Thalassemia Mostchildren with moderate to severe thalassemia are diagnosed by the end of their second year. People with no symptoms may not realize until they have a child with thalassemia and are then diagnosed as carriers. If the doctor suspects thalassemia, certain blood tests may be ordered: a) A complete blood count (CBC) b) Iron c) Genetic testing
- 6. Treatment options forThalassemia Blood transfusions This is done to replenish hemoglobin and red blood cell levels. Patients with moderate to severe thalassemia will have repeat transfusions every 4 months, while those with more severe disease may require transfusions every two to four weeks. Patients with mild symptoms may require occasional transfusions when they are ill or have an infection. Iron chelation This involves removing excess iron from the bloodstream. Sometimes blood transfusions can cause iron overload. Iron overload is bad for the heart and some other organs. Patients may be prescribed subcutaneous (injected under the skin) deferoxamine or oral (taken by mouth) deferasirox.
- 7. Prevention of Thalassaemia Public education ƒCarrier screening Genetic counseling Prenatal Diagnosis
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