This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patients: Beta Thalassemia”. This article explains the different types of beta thalassemia (BT), this is: trait, intermedia, and major.

Symptoms of BT vary depending on which kind of gene change you have inherited. Because it’s complex and to make things simpler, doctors generally put people with BT into two groups, regardless of the gene changes they have – people who depend on regular blood transfusions and those who don’t. So, your BT may be described as transfusion dependent or non-transfusion dependent. People who need regular blood transfusions have more severe anemia (fewer healthy red blood cells).

You may also hear the terms beta thalassemia intermedia and beta thalassemia major.

  • BT intermedia describes less severe disease that does not need regular blood transfusions (although you may need more transfusions as you get older). It generally occurs when one or both gene changes are less severe.
  • BT major describes severe disease since early childhood requiring lifelong regular blood transfusions. It generally results from a combination of two severe gene changes.

Other Types of Inherited Blood Disorders

Sometimes people inherit a combination of a BT gene change and a change in a gene that causes another condition that affects Hb production. For example, some people have one BT gene change and the gene change that causes sickle cell disease: this combination causes a disease called sickle BT. Another condition is alpha gene triplication.

Beta Thalassemia Trait

If you have only one changed HBB gene, you are a healthy carrier of BT but do not have, and will never develop, the disease. This is called beta thalassemia trait or beta thalassemia minor.

Normally BT trait doesn’t cause symptoms so you may not know you have a BT gene change. A routine blood test may raise suspicions that you are a carrier but cannot prove this – you need to have specific DNA (genetic) tests carried out on a blood sample to find any thalassemia changes.

BT carriers are healthy people who don’t have thalassemia. You may have mild anemia, but this doesn’t generally need treatment. You may have a pale complexion.

Under a microscope, your red blood cells will look small (microcytosis). A doctor who doesn’t know your medical history may assume this is due to low iron, but it’s not and you don’t need iron supplements. In fact, you shouldn’t take iron supplements unless a specific blood test shows that you are definitely deficient.

What Is the Risk If I Have Children?

If you carry a mutated HBB gene you have a 1 in 2 risk (50%) of passing it on to a child for each pregnancy that you conceive.

If your partner also has BT trait, there is a 1 in 4 chance (25%) of a baby having BT and a 1 in 4 chance (25%) of them not inheriting the gene mutation at all.

Your doctor may suggest you have genetic counseling if you have BT trait.

What Can I Do to Help Myself?

You may feel tired if you have mild anemia, particularly if your body is under any extra strain, such as during pregnancy, or if you have an infection or have had surgery.

You can help yourself to stay healthy by

  • eating healthily
  • exercising regularly
  • not smoking or drinking too much alcohol.

Should I Tell Other People?

When and how should you tell people that you are a thalassemia carrier? The simple answer is: whenever you are ready. Mostly, you don’t have to tell people if you don’t want to. But you particularly need to be open with your partner if you are thinking of starting a family in the future. They will need to be tested too.

Talking about a genetic problem can be difficult. People sometimes feel it’s their fault. But you have no control over the genes you inherit. You can use this booklet to help others understand more about BT.

Beta Thalassemia Intermedia

Symptoms of BT intermedia can appear at any point. You may not need transfusions as it depends on the severity of your anemia and whether you need to prevent or control long-term complications. Your doctor will advise you about this.

Signs and Symptoms

You may:

  • look pale
  • lack energy when active or exercising
  • not grow as much as expected
  • not gain as much weight as expected
  • have abdominal swelling, caused by the spleen getting bigger.

These may be the only symptoms if the condition is diagnosed early.

The spleen enlarges because one of its functions is to recycle and remove old and faulty red blood cells.

Symptoms can get worse when the body is under stress, because the need for oxygen is higher. Stress includes having an infection, recovering from surgery and during pregnancy.

Beta Thalassemia Major

BT major is a lifelong condition, with symptoms usually appearing during the first 2 years of life.

Signs and Symptoms

BT major causes severe signs and symptoms because the body is not able to make normal Hb. It is a transfusion-dependent condition.

Babies with BT major become thin and pale during their first year because of severe anemia. They also show early signs of bone changes.

Why Is Treatment Important?

It’s important for all children and adults with BT major to have treatment to control the disease and try to prevent complications as far as possible. If you don’t, you are more likely to develop further problems as your body tries to cope with the faulty red blood cells.

 

Information based on Fast Facts for Patients: Beta Thalassemia (Karger, 2023).

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