The symptoms of thalassemia vary depending on the type of thalassemia. Nonetheless, Thalassemia minor can also be kind of a pain. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. Some of the most noticeable signs include: It’s important to diagnose thalassemia quickly in children. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This site complies with the HONcode standard for trustworthy health information: verify here. In beta thalassemia, the beta globin genes are affected. In Thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother (egg) and one from the father (sperm). © 1998-2020 Mayo Foundation for Medical Education and Research (MFMER). Some such cases result from an autosomal dominant form of thalassemia and others from inheriting a mutation that is not detected by the probes utilized in the DNA testing. You may also consider avoiding fortified cereals, breads, and juices. Persons with thalassemia minor have (at most) mild anemia … A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. If it does, it causes minor anemia. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Mayo Clinic is a not-for-profit organization. A milder form, called thalassemia intermedia, also can result from two mutated genes. Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. In microcytic anemia, your red blood cells are too small. Diagnosis is confirmed by a hemoglobin profile (also called electrophoresis). An enlarged spleen can make anemia worse, and it can reduce the life of transfused red blood cells. The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case. All rights reserved. Thalassemia minor generally doesn’t cause any symptoms. Mayo Clinic does not endorse companies or products. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells. Especially when I was younger and wanted to join the rest of the world and the ”normal” people around me and for example wanted to go out night after night… Thalassemia minor is then not that much fun. The key is to find something you enjoy and keep moving. Beta thalassemia … They’re produced in your bone marrow. 20th ed. Even if … You get two from each of your parents. Many times people with thalassemia are … Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. Our website services, content, and products are for informational purposes only. If you have mild thalassemia, you might not need treatment. Jameson JL, et al., eds. This condition develops when all four alpha globin genes are altered or missing. People with thalassemia minor don’t usually have any symptoms. In thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha-thalassemia or beta-thalassemia. Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. Beta thalassemia. There are also terms for how serious the … The signs and symptoms you experience depend on the type and severity of your condition. Each of these forms of thalassemia has different subtypes. In alpha-thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. Thalassemia signs and symptoms can include: Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Thalassemia minor: The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). Thalassemia is inherited by the child from its parents. Accessed Oct. 4, 2019. Some people with thalassemia minor do develop minor symptoms. This is done by taking fluid samples from either the placenta or the fetus, respectively. Red blood cells carry oxygen from your lungs to your entire body. A bone marrow transplant is a medical procedure performed to replace bone marrow that has been damaged or destroyed by disease or chemotherapy. A low level of red blood cells 2. Swimming and yoga are other options, and they’re also good for your joints. Your anemia may be mild to severe. The exact form you have will affect the severity of your symptoms and your outlook. If you inherit: Two mutated genes, your signs and symptoms will be moderate to severe. The lab technician may also perform a test known as hemoglobin electrophoresis. Accessed Oct. 4, 2019. A person who has thalassemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassemia major may have severe symptoms and may need regular … If you have thalassemia minor, you are just a classifier who bears the gene for the disease but have no symptoms. Beta thalassemia is much more common than alpha thalassemia. Children with beta thalassemia intermedia or major may not show any symptoms at birth, but usually develop them in the first 2 years … Slow growth 6. If you’re receiving a blood transfusion, you may also need chelation therapy. In: Harrison's Principles of Internal Medicine. If you want to have a baby, discuss this with your doctor to make sure that you’re in the best health possible. The embryos are tested for the defective genes, and only those without genetic defects are implanted into the uterus. Two genes are involved in making the beta hemoglobin chain. Abdominal swelling 7. Your iron levels will need to be carefully monitored. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. Thalassemia is genetic in nature. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you want to have children. The symptoms of thalassemia major generally appear before a child’s second birthday. You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of … This type of thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis. Fatigue 2. Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Centers for Disease Control. This disease can lead to bone issues. Symptoms will not show until the age of 6 months in most … People with thalassemia minor don’t usually have any symptoms. Children with alpha thalassemia trait and those who are silent carriers have no symptoms at all.Some of the more common symptoms of alpha thalassemia include: 1. fatigue, weakness, or shortness of breath 2. a pale appearance or a yellow color to the skin (jaundice) 3. irritability 4. deformities of the facial bones 5. slow growth 6. a swollen abdomen 7. dark urine National Heart, Lung, and Blood Institute. If you have one of these rashes, you may have anemia. Thalassemia can be categorized into forms such as alpha, beta, e beta, sickle beta thalassemia, with each having a major, intermedia, minor/trait form. Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. Some people who have only one affected hemoglobin gene don't have thalassemia symptoms. Thalassemia is often accompanied by the destruction of a large number of red blood cells. Since red blood cells are responsible for delivering oxygen, a reduced number of these cells means you don’t have enough oxygen in the body either. Pale or yellowish skin 4. The shortened life span has to do with iron overload, which can eventually affect your organs. A guide to living with thalassemia. Moderate-intensity workouts are usually recommended, since heavy exercise can make your symptoms worse. How to Recognize and Treat an Anemia Rash, Everything You Need to Know About Microcytic Anemia, Blood Diseases: White and Red Blood Cells, Platelets and Plasma, Hemolytic Anemia: What It Is and How to Treat It, Blood Transfusions: What to Expect and How Long They Last, Debra Rose Wilson, Ph.D., MSN, R.N., IBCLC, AHN-BC, CHT, Identifying and Treating a Yeast Rash on Your Baby’s Neck, Courtney Sullivan, Certified Yoga Instructor, beta thalassemia, which includes the subtypes major and intermedia, alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis. If this occurs, you probably won’t have symptoms, but you’ll be a carrier. If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease. However, there are ways you can manage the disease to help prevent complications. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. Thalassemia minor is a genetic blood condition. What is thalassemia minor? The two types are alpha thalassemia and beta thalassemia. Symptoms depend on the type and can vary from none to severe. Thalassemia intermedia is a less severe form. This can be confused with iron deficiency anemia. Your doctor may instruct you not to take vitamins or supplements containing iron. Thalassemia also brings up different concerns related to pregnancy. They will also explain how your treatments can help improve your quality of life or increase your lifespan. Hemoglobin enables red blood cells to carry oxygen. Alpha thalassemia carrier. Thalassemia major is the most severe form of beta thalassemia. When left untreated, this condition can lead to problems in the liver, heart, and spleen. The person is said to be heterozygous for beta thalassemia. Be sure to discuss any dietary changes with your doctor ahead of time. Beta Thalassemia Minor Sometimes called "beta thalassemia trait," this version of the disease has few symptoms other than possible mild anemia. All rights reserved. People with beta thalassemia trait usually do not have any symptoms. https://www.nhlbi.nih.gov/health-topics/thalassemias. Jaundice can be a symptom of thalassemia. In rare cases, a child born with this condition can be treated with transfusions and a stem cell transplant. It develops because of alterations in both beta globin genes. Thalassemia is an abnormality or defect in one of the genes that are responsible for the production of hemoglobin. Naturally found in foods such as dark leafy greens and legumes, this B vitamin is essential for warding off the effects of high iron levels and protecting red blood cells. The signs and symptoms of thalassemia … Accessed Oct. 6, 2019. Since thalassemia is a genetic disorder, there’s no way to prevent it. There are two main forms of thalassemia that are more serious. 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