Thalassemia

Overview

Hemoglobin is made of protein chains called alpha and beta globin. In thalassemia, genes for one of these chains are changed or missing, so the body makes fewer healthy red blood cells.

Severity depends on how many genes are affected. Carriers may have mild anemia that's often mistaken for low iron. Severe forms, like beta thalassemia major, are found in early childhood.

Symptoms

Trait often has no symptoms. More severe forms cause:

• Feeling tired and weak
• Pale skin

Less common

• Yellow skin or eyes
• Slow growth in children
• Swollen belly from a large spleen
• Bone changes in the face
• Dark urine

Look up a symptom: Pale skin

When to get medical care

Causes

It's inherited through genes from both parents.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history
• Mediterranean, Middle Eastern, South Asian, Southeast Asian, Chinese, or African ancestry

Possible complications

• Iron overload: Can harm the heart and liver
• Enlarged spleen

Diagnosis

Blood tests diagnose thalassemia.

Questions you may be asked

• Family history and ancestry
• Whether iron pills helped your anemia

The exam

They'll check for pale skin, yellow eyes, and a large spleen.

Tests

Tests:

• Complete blood count: Shows small, pale red blood cells.
• Hemoglobin tests and genetic tests: Show the type of thalassemia.

Treatment

Treatment depends on the type and how severe it is.

Self-care

• Don't take iron pills unless your doctor says you're low in iron
• Get all vaccines
• Eat a healthy diet and ask about folic acid

Medicines

Medicines for moderate to severe thalassemia:

OwieClear doesn't give doses: follow the label or your healthcare professional. Medicine names here are examples, not a full list.

Moderate or severe thalassemia is treated with blood transfusions, sometimes every 3 to 4 weeks. Medicines remove extra iron from transfusions. A stem cell transplant can cure it, and gene therapy is an option for some.

Prevention

Thalassemia can't be prevented, but families can plan:

• Carrier testing before or during pregnancy
• Genetic counseling

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a hematologist (blood doctor).

Children, pregnancy, and older adults

• Children: Severe forms show up in the first 2 years of life.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

People with trait live normal lives. With transfusions and iron removal, people with severe forms live much longer than in the past.

Getting ready for your visit

Bring past blood test results.

What to bring

• Blood counts
• Family history

Questions to ask

• Which type do I have?
• Do I need transfusions?
• Should my partner be tested?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Thalassemia