Treatments for thalassaemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassaemia trait have mild or no symptoms. They’ll likely need little or no treatment.
Doctors use three standard treatments for moderate and severe forms of thalassaemia. These treatments include blood transfusions, iron chelation therapy (ke-LAY-shun), and folic acid supplements. Other treatments have been developed or are being tested, but they’re used much less often.
Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassaemias. This treatment gives you healthy red blood cells with normal haemoglobin.
During a blood transfusion, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood. The procedure usually takes 1 to 4 hours.
Red blood cells live only for about 120 days. So, you may need repeated transfusions to maintain a healthy supply of red blood cells.
If you have haemoglobin H disease or beta thalassemia intermedia, you may need blood transfusions occasionally. For example, you may have transfusions when you have an infection or other illness, or when your anaemia is severe enough to cause tiredness.
If you have beta thalassaemia major (Cooley’s anaemia), you’ll likely need regular blood transfusions (often every 2 to 4 weeks). These transfusions will help you maintain normal haemoglobin and red blood cell levels.
Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood. This treatment is lifesaving, but it’s expensive and carries a risk of transmitting infections and viruses (for example, hepatitis). However, nowadays the risk is very low in Australia, because of careful blood screening.
For more information, go to What is a Blood Transfusion article.
The haemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a build-up of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body.
To prevent this damage, doctors use iron chelation therapy to remove excess iron from the body. Two medicines are used for iron chelation therapy.
Folic acid is a B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid supplements in addition to treatment with blood transfusions and/or iron chelation therapy.
Other treatments for thalassaemias have been developed or are being tested, but they’re used much less often.
A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person (a donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells.
A stem cell transplant is the only treatment that can cure thalassaemia. But only a small number of people who have severe thalassaemias are able to find a good donor match and have the risky procedure.
For more information, go to What is a Bone Marrow Stem Cell Transplant article.
Researchers are working to find new treatments for thalassaemias. For example, it might be possible someday to insert a normal haemoglobin gene into stem cells in bone marrow. This will allow people who have thalassaemias to make their own healthy red blood cells and haemoglobin.
Researchers also are studying ways to trigger a person’s ability to make foetal haemoglobin after birth. This type of haemoglobin is found in foetuses and newborns. After birth, the body switches to making adult haemoglobin. Making more foetal haemoglobin might make up for the lack of healthy adult haemoglobin.
Better treatments now allow people who have moderate and severe thalassaemias to live longer. As a result, these people must cope with complications that occur over time.
An important part of managing thalassaemias is treating complications. Treatment might be needed for heart or liver diseases, infections, osteoporosis, and other health problems.
This article was taken from the National, Heart, Lung and Blood Institute of America, and adapted and edited by TASCS Australia