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What Is Thalassemia?
You may hear it called things like Constant Spring, Cooley’s anemia, or hemoglobin Bart’s hydrops fetalis. These are common names for different forms of it. The two types are alpha thalassemia and beta thalassemia. The terms alpha and beta refer to the part of the hemoglobin the person is lacking.
There are also terms for how serious the thalassemia is. A person with a trait or minor form may not have symptoms or only mild ones. They may not need treatment. Someone with a major form will need medical treatment.
Thalassemia Causes and Risk Factors
Thalassemia is genetic. It happens when you inherit mutated genes from your parents that change your hemoglobin. You have it from birth. You can’t catch thalassemia the way you catch a cold or the flu.
If both of your parents carry thalassemia, you might get it. If you inherit two or more copies of abnormal genes from your parents, you may get mild to severe thalassemia, depending on what type of protein is affected. It’s more common in people from Asia, Africa, the Middle East, and Mediterranean countries like Greece or Turkey.
Thalassemia is really a group of blood problems, not just one.
To make hemoglobin, you need two proteins, alpha and beta. Without enough of one or the other, your red blood cells can’t carry oxygen the way they should.
Alpha thalassemia means you don’t make enough of the alpha hemoglobin protein chain to make your hemoglobin. With beta thalassemia, you don’t make enough of the beta.
You have four genes responsible for making the alpha protein chain of hemoglobin. You get two from each parent. If you have one abnormal copy of an alpha gene, you won’t have thalassemia but you’ll carry it. If you have two abnormal copies of an alpha gene, you’ll have mild alpha thalassemia. If you have more abnormal copies, you’ll have more serious alpha thalassemia. Babies with four abnormal copies of the alpha gene are often stillborn, or don’t survive long after birth.
You have two genes that are needed to make the beta protein. You get one from each of your parents. If you have one abnormal copy of the beta gene, you’ll have mild beta thalassemia. If you have two copies, you’ll have more moderate to severe beta thalassemia.
These can include:
- Slow growth in children
- Wide or brittle bones
- Enlarged spleen (an organ in your abdomen that filters blood and fights disease)
- Pale or yellow skin
- Dark urine
- Poor appetite
- Heart problems
In some people, symptoms show up at birth. In others, it can take a couple of years to see anything. Some people who have thalassemia will show no signs at all.
If you think you may have thalassemia, or if your parents have it, you should see a doctor. They will examine you and will ask questions. Children with moderate to severe thalassemia usually have signs by age 2.
If a doctor suspects thalassemia, you’ll take blood tests. One is a CBC (complete blood count) test. The other is a hemoglobin electrophoresis test.
- Genetic testing can show if you or your partner carries any of the genes that cause thalassemia.
- Chorionic villus sampling tests a tiny piece of the placenta to see if a baby has the genes that cause thalassemia. Doctors usually do this test around the 11th week of pregnancy.
- Amniocentesis tests the fluid around an unborn baby. Doctors usually do this test around the 16th week of pregnancy.
Thalassemia Treatment and Home Care
If you have thalassemia, follow these habits to stay well:
- Eat a healthy diet to keep your bones strong and give you energy.
- If you get a fever or feel ill, see your doctor.
- Stay away from sick people and wash your hands often.
- Ask your doctor about supplements like calcium and vitamin D.
- Don’t take iron pills.
With a mild case, you may feel tired and not need treatment. But if it’s more serious, your organs may not get the oxygen they need. Treatment might include:
- Blood transfusions. A transfusion is a way to get donated blood or parts of blood that your body needs, like hemoglobin. How often you need transfusions can vary. Some people have one every few weeks. Your transfusion schedule may change as you get older.
- Chelation therapy. Blood transfusions are important for people with thalassemia. But they can cause too much iron in the blood. That can lead to problems with the heart, liver, and blood sugar. If you get transfusions, you and your doctor will talk about whether you need medicine that can help remove extra iron from your body.
- Stem cell or bone marrow transplant. An infusion of stem cells from a matched donor can sometimes cure thalassemia.
- Supplements. In some cases, your doctor might recommend that you take extra folic acid or other supplements.
- Surgery. Some people with thalassemia may need their spleen removed.
Sometimes, blood transfusions cause reactions like a high fever, nausea, diarrhea, chills, and low blood pressure. If you have any of these, see your doctor. Donated blood in the U.S. is very safe. But there’s a remote chance that you could get an infection from a blood transfusion.
Work closely with your doctor, and keep up with your treatments.
If a person’s anemia becomes severe, it can cause permanent organ damage and even death. Some people with moderate to severe thalassemia have other health problems. These may include:
- Iron overload. Too much iron can damage your heart, liver, and endocrine system.
- Bone changes. Your bones may become thin and brittle. And the bones in your face can look out of shape or distorted.
- Slowed growth. You may be shorter than others because your bones don’t grow normally. Puberty may be delayed.
- Enlarged spleen. Your spleen filters old or damaged blood cells. If you have thalassemia, your spleen might have to work too hard. Sometimes a doctor may need to remove it. If a doctor has to remove your spleen, you will be at higher risk for infection.
- Heart problems. Thalassemia increases your risk for congestive heart failure and abnormal heart rhythms.
These problems don’t happen to everyone who has thalassemia.
You can’t prevent thalassemia, since it’s in your genes.
If you have it and you want to have children, you might want to talk with a genetics counselor. This is an expert in health issues that are passed down through families. The counselor will explain your chance of having a child with thalassemia.
If you and/or your partner carry thalassemia and your future children will be at risk, it’s possible to make sure they won’t have it with in vitro fertilization (IVF). A doctor will test the embryos before choosing which to implant.
Your outlook will depend on how severe your thalassemia is. Some people will have only mild symptoms. For others, it’s more severe. Severe thalassemia can lead to heart failure and an early death. But many people with thalassemia live as long as people without thalassemia. New treatments mean that people with thalassemia are now living longer with fewer symptoms.
You may also want to look into joining a support group, so you can connect with other people who have the condition.
All credits for this article :https://www.webmd.com/a-to-z-guides/what-is-thalassemia
The Global Talk Media is grateful to the selfless service of Zindgi Live Foundation at Ludhiana-India