In thalassemia, red blood cells don’t function as well or last as long as they should.
This shortage of healthy red blood cells means some cells in the body can’t get enough oxygen.
People with thalassemia may develop mild to severeanemia.
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Anemia is when you don’t have enough healthy red blood cells.
Mild anemia can cause symptoms such as fatigue and shortness of breath but doesn’t always require treatment.
Severe anemia can lead to serious organ damage.
Treatment may include regular blood transfusions.
This article explains thalassemia, including the types, causes, symptoms, diagnosis, treatment, and outlook.
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What Does Thalassemia Do to a Person?
Thalassemia is a serious disease that can have a huge impact on your life.
Even if you have a mild case, you’ll always want to monitor the condition.
It can be managed, and many people with thalassemia live long, healthy lives.
More severe cases require lifelong treatment and can lead to serious complications.
In most cases, this occurs in a person withmyelodysplastic syndrome.
Thalassemia Causes and Risk Factors
Thalassemia happens when you inherit certaingene mutationsor gene deletions.
They have a 50% chance of being a trait carrier.
The cancerous cells have undergone non-inherited genetic changes that result in thalassemia.
Thalassemia Symptoms
Symptoms vary according to bang out and severity.
In mild cases, symptoms may not be apparent until later in childhood or adulthood.
Diagnostic testing may include:
Newborn screening testscheck for many blood abnormalities, including beta-thalassemia.
If you’re a carrier, you don’t need treatment.
People with alpha- or beta-thalassemia traits have mild to no symptoms and may not need treatment.
Blood transfusionsare the main treatment for moderate to severe thalassemia.
How often you need a transfusion depends on the severity of the disease and your desired hemoglobin levels.
A transfusion every three to four weeks may be necessary for people with beta-thalassemia major.
Blood transfusions can leave your blood with too much iron.Iron chelation therapyhelps remove the excess to avoid complications.
The recipient’s bone marrow is treated to eliminate their stem cells.
The donor cells are infused into the recipient.
They migrate to the bone marrow and establish new production of healthy blood cells.
This can lead tocomplicationssuch as:
Other potential complications include:
Can You Prevent Thalassemia?
In cases of inherited thalassemia, there’s really no way to prevent it.
But you might consider testing for thalassemia if a family member has it.
Thalassemia Outlook and Life Expectancy
Thalassemia can often be managed.
People with mild thalassemia generally have a normal life expectancy.
Life expectancy for severe types has improved a lot over the past half century.
This may be due, in part, to early detection, transfusions, and chelation therapy.
Heart disease is the most common cause of death associated with thalassemia.
Also, consider meeting with a genetic counselor if you have a family history of the disease.
Summary
Thalassemia is a blood disorder in which your body doesn’t make enough healthy hemoglobin.
That leads to a shortage of healthy red blood cells, known as anemia.
Symptoms can range from mild to life-threatening.
Many people with mild thalassemia live a normal, healthy life span.
Treatment for more serious cases usually involves periodic blood transfusions and iron chelation therapy.
Thalassemia is an inherited condition, so there’s no way to prevent it.
Symptoms usually appear early in childhood.
Early treatment is crucial, so see a healthcare provider if your child has symptoms.
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