We understand how overwhelming a diagnosis of thalassemia major (the most severe form of transfusion-dependent thalassemia) can be, especially because most children are diagnosed as infants. Right now, you probably have a lot of questions. How dangerous is this condition? What is the very best treatment? What do we do next?
We’ve tried to provide some answers to those questions in the following pages, and our experts can explain your child’s condition fully when you meet with us.
What is thalassemia?
Thalassemia is an inherited blood disorder that causes the body to produce less hemoglobin, a protein in red blood cells that helps them carry oxygen from the lungs to all parts of the body. Hemoglobin molecules are made up of four parts: two alpha proteins and two beta proteins. Thalassemia affects one or more of these genes.
How serious is it?
Children with thalassemia major require ongoing treatment and blood transfusions throughout their lives. In addition, they need ongoing chelation therapy to remove excess iron in the blood that builds up from these transfusions. Milder forms of thalassemia, including thalassemia intermedia and thalassemia minor, require less aggressive treatment or no treatment at all.
Who’s at risk?
The defective genes that cause thalassemia are relatively common, especially in people of South Asian, African and Mediterranean descent. Those who have these defective genes but do not experience symptoms are called carriers (this condition is also called thalassemia minor or “Mediterranean anemia”). If both parents carry a thalassemia gene, their children are at a higher risk of having some form of thalassemia.
What are the different types of thalassemia?
Everyone has four alpha genes and two beta genes that control hemoglobin production. Alpha thalassemia occurs when one or more of these alpha genes is missing or damaged. Beta thalassemia occurs when one or both beta genes aren’t working properly.
There are three major types of thalassemia that are classified based on the severity of symptoms: minor, intermedia and major.
- Children with thalassemia minor or trait (and those that are “silent carriers”) do not experience symptoms or require treatment.
- Children with thalassemia intermedia need some follow-up care and may require blood transfusions under certain circumstances.
- Children with thalassemia major need ongoing medical care, including blood transfusions to alleviate severe anemia and chelation therapy to remove excess iron from the blood.
Thalassemia minor and carriers
- one alpha gene is missing or damaged
- no symptoms
- no treatment needed
Thalassemia minor (or thalassemia trait):
- two alpha genes or one beta gene missing or damaged
- no symptoms or mild anemia under some circumstances
- no treatment needed
Beta thalassemia intermedia:
- one or both beta genes are not working properly
- mild to severe anemia
- can be diagnosed early in childhood or later in life
- may need blood transfusions during pregnancy or when very sick
Alpha thalassemia major:
- four alpha genes are missing
- most serious and most rare form of thalassemia
- untreated, leads to miscarriage or death of the baby shortly after birth
- may be treated with blood transfusions in the womb if discovered early enough in pregnancy
- babies who survive require life-long blood transfusions or stem cell transplant and extensive medical care
Beta thalassemia major (also called Cooley’s anemia, after the discoverer):
- both beta genes are not working properly
- severe anemia
- monthly blood transfusions needed
- chelation therapy is also needed to remove excess iron that builds up in the body due to frequent blood transfusions
- symptoms begin during the first year of life
Other types of thalassemia
Hemoglobin E beta-thalassemia: This form of thalassemia is more common in children of South-East Asian descent. It results from two separate genetic defects:
- a defective type of hemoglobin known as hemoglobin E
- a defective gene that causes beta thalassemia
Hemoglobin H disease alpha-thalassemia: This form of thalassemia is most common in Southern China and South-East Asia. In Hemoglobin H disease:
- three alpha genes are missing
- moderate to severe anemia may occur
- frequent blood transfusions may be needed
- genetic counseling and screening may be needed in adulthood, as the risk of having children with alpha thalassemia major is increased
Is thalassemia common?
Thalassemia affects many people from Southeast Asia, Africa and around the Mediterranean Sea, although it occurs in many populations around the world.
Thalassemia genes are very common, and about 300 million people around the world have what’s called “thalassemia trait,” which puts them at risk of having children with some form of thalassemia. People with thalassemia trait do not experience any symptoms or require treatment.
More than 100,000 people have thalassemia major, and over 1 million people have thalassemia intermedia, a less severe form of the disease. Hemoglobin H disease and Hemoglobin E/beta thalassemia are extremely common in Southern China and South and Southeast Asia. In the United States, there are only about 1,000 people with thalassemia major.
Is thalassemia something you inherit?
Yes, thalassemia is an inherited blood disorder, passed from parents to their children through their genes. A child usually does not develop symptoms unless both parents carry a thalassemia gene.
What are the symptoms?
Symptoms of thalassemia depend on the number of genes affected and can range from no symptoms at all to severe anemia.
The primary symptoms of thalassemia are a result of anemia, a decreased number of healthy red blood cells. The following are the most common symptoms of anemia. However, each child may experience symptoms differently. The symptoms may include, but are not limited to, the following:
- pale skin, lips, hands or under the eyelids
- increased heart rate (tachycardia)
- breathlessness, or difficulty catching a breath (dyspnea)
- lack of energy, or tiring easily (fatigue)
- dizziness or vertigo, especially upon standing
- irregular menstruation cycles
- absent or delayed menstruation (amenorrhea)
- jaundice, or yellowing of skin, eyes, and mouth
- enlarged spleen or liver (splenomegaly, hepatomegaly)
- slow or delayed growth and development
Children who carry a single thalassemia gene are said to have “thalassemia trait.” These children are generally healthy and do not require any treatment.
Thalassemia intermedia causes less severe symptoms than thalassemia major. This can make it difficult to diagnose because it may resemble other forms of anemia.
Thalassemia major causes the most severe anemia and requires ongoing treatment and regular blood transfusions.
Q: Will my child be OK?
A: Your child’s long-term health will depend on the type of thalassemia he has. In the past, patients with thalassemia major had significantly diminished life expectancies. Today, however, thanks to blood transfusion therapy and effective iron chelators, the life expectancy for children with severe thalassemia is constantly improving. However, children with thalassemia major will require ongoing medical care, including blood transfusions.
In general, children with thalassemia intermedia experience less severe symptoms. If your child has thalassemia intermedia, he will need to receive regular medical follow-up but most likely will not require frequent blood transfusions.
Children with thalassemia minor (also called thalassemia trait) do not experience symptoms under normal circumstances.
Q: Where will my child be treated?
A: Children treated through our Thalassemia Program receive care in our hematology clinic. Those who require transfusions are seen in the Center for Ambulatory Treatment in Boston or Waltham. For many appointments and certain procedures, your child can also receive care at one of our satellite offices .
Q: What services are available to help my child and my family cope?
A: We offer a variety of support services to help your family deal with the long-term effects of thalassemia.
Questions to ask your doctor
After your child is diagnosed with thalassemia, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.
Lots of parents find it helpful to jot down questions as they arise—that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.
If your child is old enough, you may want to suggest that he write down what he wants to ask his health care provider, too.
Some of the questions you may want to ask include:
- What specific type of thalassemia does my child have?
- What symptoms might my child experience?
- How will my child’s symptoms be managed?
- Will my child need transfusions?
- Will my child need chelation therapy?
- What are the potential complications? How can I help my child avoid them and recognize them if they do occur?
- How often will my child need to come in for follow-up care?
- What is the long-term outlook for my child?
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