Thalassemia is an inherited disease that affects the blood. The genetic features are present from birth. Children with severe thalassemia will require regular blood transfusions.
Thalassemia causes the body to produce atypical hemoglobin and low amounts of hemoglobin in the blood. This can lead to anemia, with symptoms such as fatigue and shortness of breath. In severe cases, it can be life threatening, though transfusions and other treatments can help manage it.
In this article, we examine pediatric thalassemia, how it affects children, the treatment, and the outlook.
Thalassemia occurs when a person’s body does not produce hemoglobin correctly due to inherited genetic factors.
Pediatric thalassemia is when a person who is under 18 years old experiences symptoms and needs treatment.
Thalassemia can range in severity from mild to severe. If a child receives a diagnosis before the age of
Children with severe thalassemia will need regular blood transfusions.
Thalassemia is an inherited condition.
If a person inherits the gene characterizing the condition from one biological parent, they will most likely be a carrier but will not have thalassemia.
If both parents have this gene, there is a 1 in 4 risk that their child will have thalassemia.
For this reason, doctors advise premarital or preconception genetic testing in people with a high risk of carrying the gene.
There are various types of thalassemia, depending on the genetic features present. Alpha and beta tend to be more common, but there are others.
Alpha-globin and beta-globin protein chains make up hemoglobin. Changes in the alpha- or beta-globin genes that provide instructions for these proteins can lead to thalassemia.
Four genes comprise the alpha-globin chain, while two genes make up the beta-globin chain.
Here is a summary of some names and
| Type | Genetic features | Symptoms |
| alpha thalassemia | missing or alterations in one or more alpha-globin genes | – 1 missing gene: mild symptoms – 4 missing genes: a child will likely be born with hydrops fetalis, which refers to severe swelling, and may not live long after birth |
| beta-plus thalassemia | underproduction of the beta-globin gene | mild, usually without symptoms |
| beta-thalassemia intermediate | alterations on the beta-globin genes | mild to moderate symptoms |
| beta-thalassemia major | total absence of the beta-globin gene | jaundice, slow growth, and other severe symptoms that can affect the child’s whole body |
| thalassemia minor | one altered beta-globin gene | mild to moderate symptoms |
| thalassemia major or Cooley anemia | changes on two beta-globin genes | sickle trait and changes in the beta-globin gene |
| coinheritance | changes in alpha-globin and beta-globin genes | mild symptoms as the changes balance out to some extent |
| with sickle trait | sickle trait and changes in the beta-globin gene | appears as sickle cell anemia |
Doctors may also refer to types as transfusion-requiring and nontransfusion-requiring thalassemias. All basic classifications fall into these two types depending on whether someone requires frequent blood transfusions.
The symptoms of thalassemia are due to anemia. Mild thalassemia may not produce symptoms, but severe thalassemia can affect a child’s development and daily life. It can affect the whole body.
Mild to moderate symptoms include:
- fatigue
- weakness
- shortness of breath
- pallor
- dizziness
- lightheadedness
- headaches
A child with severe thalassemia may show signs of:
- dark urine
- jaundice, which can present as a yellowing of the eyes or skin
- an enlarged liver or spleen, which can appear as abdominal swelling
- an atypical facial bone structure
- delays in physical or intellectual development
Doctors may diagnose pediatric thalassemia by:
- examining individual and family medical history
- considering any symptoms
- testing blood for a complete blood count and types of hemoglobin
- using genetic testing
People with mild thalassemia may not need treatment, but those with more serious symptoms will need ongoing medical support.
This
- blood transfusions
- iron chelation therapy
- other medications, such as luspatercept (Reblozyl)
- removal of the spleen, which can improve symptoms but increases the risk of infections
- a blood and bone marrow transplant
Some may need a blood transfusion every
Regular transfusions can cause too much iron to build up in the body. If this happens, medications known as iron chelation therapy can remove the excess iron.
The only cure for thalassemia is a blood and bone marrow transplant.
Thalassemia is a lifelong condition. In some cases, it can lead to severe health problems, whether from the disease itself or the effects of treatment.
However, the outlook varies widely, depending on the severity, type, and other factors.
For people with severe types of thalassemia, medical advances since the
As recently as 2009, an article noted that children with beta-thalassemia major had an average life expectancy of only 17 years, while most did not survive beyond the age of 30.
Now, doctors expect many people with thalassemia to live into their 50s, 60s, or longer.
An effective treatment plan can ensure a child stays in good health and has the best possible quality of life. Their family and healthcare team can adapt the plan as the child grows.
Mental health and social challenges
Caregivers can work with teachers and other adults to increase awareness of thalassemia and maximize the child’s participation at school and with friends. Mental health support and counseling can benefit both the individual and their family.
Here are some questions people often ask about pediatric thalassemia.
What happens if a child has thalassemia?
This will depend on the type and severity of thalassemia. Some children experience no symptoms, while others need lifelong treatment.
At what age do doctors diagnose thalassemia?
Depending on the type, symptoms can appear at birth, after 6 months, or possibly never if a person has a mild form of the condition with no symptoms.
In some cases, it may show up by chance in a routine blood test.
What is the life expectancy of a child with thalassemia?
A child born with severe alpha thalassemia may not survive long after birth. However, many children with thalassemia can have a life expectancy similar to other people, either because thalassemia is mild or due to effective treatment.
Does thalassemia minor need treatment?
Many people with thalassemia minor do not experience symptoms, so they may never need treatment.
Pediatric thalassemia is a type of anemia. It affects children who inherit a specific gene relating to the condition from both parents. The body needs this gene to produce hemoglobin correctly.
There are different types, ranging from mild to severe. Some people may never notice symptoms, while others need regular blood transfusions.
The only cure for thalassemia is a blood and bone marrow transplant, but it can be difficult to find a donor. For many people, following a regular treatment plan will help maximize their quality of life and life expectancy.