Thalassemia is a blood disorder. It cuts down the amount of red blood cells and hemoglobin that the body can make. Red blood cells carry oxygen to all the organs in the body. Hemoglobin is a part of red blood cells that help grab oxygen at the lungs. Low levels of red blood cells and hemoglobin can lead to
anemia and difficulty carrying oxygen. Anemia interferes with normal bodily functions.
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Thalassemias are split into 2 main categories. The categories are based on the part of hemoglobin that is affected: Alpha thalassemia—based on abnormality of the alpha part of hemoglobinBeta thalassemia—based on abnormality of the beta part of hemoglobin
Thalassemia is caused by faults in specific genes. It is an inherited disorder. This means the affected person received the faulty genes from the parents. The severity of the thalassemia will depend on the number of faulty genes that a child inherits. There are 4 genes needed for hemoglobin, 2 from each parent. The number of genes that are faulty will determine the severity and subtype of thalassemia:
One abnormal gene—silent carrier, no signs of illness but can pass condition on to childTwo abnormal genes—thalassemia trait, may have mild anemiaThree abnormal genes—Hemoglobin H disease, moderate to severe anemiaFour abnormal genes—most severe form called Alpha hydrops fetalis, results in fetal or newborn death
In beta thalassemia:
One abnormal gene—Thalassemia minor, carrier with mild anemiaTwo abnormal genes—Thalassemia major known as Cooleys anemia, may have moderate to severe anemia
Factors that increase your chance of thalassemia include:
Certain types of thalassemia are associated with ancestors from certain parts of the world:
Alpha thalassemias—Southeast Asia, Malaysia, and Southern ChinaAlpha hydrops fetalis—Southeast Asian, Chinese, and Filipino ancestryBeta thalassemias—Africa, areas surrounding the Mediterranean Sea, and Southeast AsiaA family history of the disorder
Silent carriers will have no symptoms. For others, symptoms most often begin within 3-6 months of birth.
Symptoms of mild or moderate anemia may include: Feeling weak and tiredShortness of breathLightheadedness or headachesCold hands and feetPale skin
Symptoms of severe anemia include: Lack of interest in activityPale appearancePoor appetite/feedingDark urineJaundice
General symptoms of thalassemia include: Slow growth and delayed puberty
Enlarged and fragile bones, including:
Thickening and roughening of facial bonesBones that break easilyTeeth that don't line up properly
Thalassemia can also lead to complications such as: Increased risk of developing infectionsEnlarged spleenHeart failureLiver problems
The doctor will ask about your symptoms and medical history. A physical exam will be done.
Blood tests will be done to analyze your hemoglobin and measure levels of: HemoglobinRed blood cellsIron
Treatment will be based on the type and severity of anemia. Mild forms may not need treatment. More severe forms may need:
Blood transfusions will help provide healthy new red blood cells. The blood comes from a donor and is carefully screened before it is delivered in a transfusion.
Repeated blood transfusions can lead to high levels of iron in the blood. This can damage the heart, liver, and other vital organs. Certain medications can bind to the iron and carry it out of the body through urine.
Healthy stem cells from a donor's bone marrow are injected into a vein. The new cells travel through the blood into the bone cavities. There, they can produce new
blood cells. This may be a cure in some. However, it can be hard to find a good match with a donor and there are many complications.
Thalassemia can cause the spleen to enlarge. An enlarged spleen can make anemia worse. A splenectomy is a surgery to remove the spleen. It may help reduce the number of blood transfusions that are needed.
Complications and impact on your daily activities may be reduced by following basic healthy lifestyle tips: Eat a well balanced diet. Your doctor may also recommend supplements like folic acid.Include regular physical activity.Take steps to prevent cold or flu. Wash your hand often. Avoid crowds in flu season. Get vaccinations as recommended.If you have thalassemia and you are pregnant, talk to you doctor about any special steps you need to take. Go to all medical appointments as recommended.
This disease is inherited. Blood tests and family genetic studies will show if you are a carrier. A genetic counselor can discuss the risks of passing on the disease.
Explore thalassemias. National Heart, Lung, and Blood Institute website. Available at:
http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia. Updated July 3, 2012. Accessed August 4, 2015.
Hydrops fetalis. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed. Updated July 5, 2015. Accessed August 4, 2015.
4/24/2014 DynaMed Plus Systematic Literature Surveillance
http://www.dynamed.com/topics/dmp~AN~T114657/Alpha-thalassemia. Thalassaemia in pregnancy, Management of Beta (Green-top 66). Royal College of Obstetrians and Gynaecologists website. Available at: https://www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg66. Published March 27, 2014. Accessed August 4, 2015.
Last reviewed September 2016 by Michael Woods, MD, FAAP
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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