What Is Beta-Thalassemia?

Beta thalassemia is a treatable blood disorder that’s inherited, or passed down through your genes.

With beta thalassemia, your body doesn’t make enough hemoglobin, which is an important protein used by red blood cells. If you don’t have enough hemoglobin, your red blood cells don’t work as well or last as long.

You need healthy red blood cells to carry oxygen to other cells. If your body doesn’t have enough healthy blood cells, you may develop anemia. You may feel tired, weak, and out of breath. Anemia raises your risk of organ damage and death.

There are three types of beta thalassemia:

• Beta thalassemia minor. This is a mild form of thalassemia. You may have no symptoms at all or you may have mild anemia. It’s also called beta thalassemia trait.
• Beta thalassemia intermedia. This is a moderate form of thalassemia. You may need treatment and blood transfusions, so your body has healthy hemoglobin and red blood cells.
• Beta thalassemia major. This is a more severe form of thalassemia that’s also called Cooley’s anemia. It may lead to life-threatening anemia. With beta thalassemia major, you may have more severe symptoms and need regular blood transfusions and care.

Beta thalassemia is treatable. You can manage it with blood transfusions, a treatment called iron chelation therapy, and by staying healthy.

Symptoms

Everyone’s experience with beta thalassemia is different. While some people don’t have symptoms, others do. It depends on the type of beta thalassemia you have and how severe it is.

With beta thalassemia minor, you may have no symptoms. You may develop mild anemia, or you may not. You may go your whole life without knowing you have the gene responsible for beta thalassemia.

With beta thalassemia intermedia, you may have symptoms related to moderate or severe anemia.

With beta thalassemia major, you may have more symptoms. They may be severe.

Signs and symptoms may include:

• Swelling in your belly
• Dark urine
• Delayed or slow growth
• Facial bone deformities
• Fatigue
• Pale skin
• Weakness
• Yellow skin

You may also have symptoms of anemia, which include:

• Dizziness
• Enlarged spleen
• Extreme fatigue
• Headache
• Leg cramps
• Pale skin
• Rapid heartbeat
• Shortness of breath
• Trouble concentrating
• Weak bones

Babies who are born with beta thalassemia major may have early symptoms like fussiness, infections, pale skin, and a poor appetite. Or they may have no signs or symptoms. This is more likely if they only have one hemoglobin gene affected by the disorder.

As children get older, they may develop symptoms like swelling in the belly, slowed growth, and yellow skin, which is also called jaundice.

If beta thalassemia isn’t treated, it may lead to more problems. A child may develop an enlarged heart, liver, or spleen. They may have thin, brittle, or deformed bones. They may need blood transfusions more often. Their life span may be shorter.

Diagnosis and Testing

Many people find out they have beta thalassemia between ages 6 and 12.

You may discover you have it because you have symptoms of anemia. Or your doctor may discover it during a routine blood test or another test.

It’s common to be misdiagnosed. If you have anemia, your doctor may think it’s from a lack of iron. They may give you an iron replacement, which can be harmful. It’s important to see a hematologist, who specializes in blood disorders.

Since beta thalassemia runs in families, you may have relatives who have it.

It’s more common in people from certain parts of the world, including:

• Africa
• Asia
• Greece
• Italy
• The Middle East
• Turkey

If you have family members with beta thalassemia or your family is from one of these areas, your doctor may run blood tests to see if you have it. Babies may have newborn screenings that look for beta thalassemia.

Your doctor may run tests like:

• Complete blood count (CBC). This is a test that checks your blood to see the amount, size, and maturity of certain blood cells.
• Hemoglobin electrophoresis with hemoglobin F and A2 quantitation. This is a lab test that breaks down the types of hemoglobin in your blood.
• Chorionic villus sampling (CVS) or amniocentesis. If you’re pregnant, your doctor may use these tests to see if your baby has beta thalassemia.

My Diagnosis Story

By Paul DiLorenzo

I was diagnosed with beta thalassemia major when I was 6 or 7 months old. When I was born, my parents were told I was a healthy baby. For the first few months, this appeared to be the case. But over time, my parents noticed me becoming pale and lethargic.

They took me to the doctor and found out that my hematocrit was low. Because we’re of Italian descent, the pediatrician had me tested for thalassemia, and I got the diagnosis of beta thalassemia major.

At the time, the prognosis was not promising. My parents were told I wouldn’t live past my teenage years. Fortunately, by the time I reached adolescence, there were many medical advancements, which dramatically changed the prognosis. My parents and I were told that with proper treatment and care, I could live a relatively normal life span. 

It’s worth noting that in 1979, when I was born, newborn genetic screening didn’t include thalassemia. But that has changed. 

I received my first blood transfusion when I was 18 months old. I now receive 2 to 3 units of blood every 2 weeks. While these blood transfusions give me life, the breakdown of the blood also causes issues, like excess iron in my system. To mitigate this, I started chelation when I was 3 years old.

The only chelator at that time was a drug called deferoxamine (Desferal) that had to be given through a needle in my stomach. That needle was connected to a pump that slowly infused it overnight. It wasn’t an easy process, especially for someone so young. I was on it for over 25 years.

As I got older, it became easier with better pumps and a portacath, a device placed under the skin that gives IV fluids. Fortunately, chelation therapy has changed dramatically with medical advancements. I now take oral chelators, in the form of pills.

Because thalassemia is so rare, there were many times I felt alone. Even though I had a lot of support from my family, it could still be very isolating not knowing anyone else with thalassemia.

That changed when I was 16 years old and met another thalassemia patient for the first time. It was an amazing experience to talk to someone who truly knew what I was going through. Since then, I got to know more thalassemia patients and became involved with various thalassemia organizations. 

As I got older, I realized how vital it was to have the support of a community. This isn’t only the case for patients, but also for their parents and family members who go through their own struggles with having a child with a chronic genetic condition. For this reason, in 2006, I co-founded the Thalassemia Support Foundation (TSF) alongside my wife, parents, and two other sets of parents who have children with thalassemia. 

In my lifetime, I’ve gone through many difficult and trying times. Through it all, I was fortunate to have the support of three very important people.

My parents have been my biggest advocates from the time I was diagnosed. They made sure that I got the care I needed while also working hard to provide me with as much of a normal childhood as possible. My wife, who I married when I was 23, has become my rock. She has supported me through the tough times with love, empathy, and compassion. I could not have asked for a more special person to have by my side.

Questions for Your Doctor

Bring a list of questions to your doctor’s appointment.

They may include:

• Do I carry the genes for beta thalassemia?
• How do I know if I’ll pass it to my children?
• What type of beta thalassemia do I have?
• How can I manage it?
• What type of treatment do I need?
• Will I need iron chelation therapy to remove extra iron from my body?
• Will I need blood transfusions? And if so, how often?
• What lifestyle choices can I make to stay healthy and manage beta thalassemia better?
• What can I do to avoid infections?
• How often will I have blood tests and physical exams?
• What can I do about anemia?
• What are possible complications?
• Where can I find emotional support?

Treatment

Your treatment will depend on how mild or severe your beta thalassemia is.

• If you have mild beta thalassemia, you may not need any treatment at all.
• If you have thalassemia intermedia, you may need blood transfusions occasionally, like when you get sick or have an infection.
• If you have severe beta thalassemia, you may have severe anemia, which means you may need regular blood transfusions and iron chelation therapy.

Beta thalassemia treatments include:

• Blood transfusions, which are a safe and common procedure where your doctor inserts a small plastic tube into a blood vessel to deliver blood
• Iron chelation therapy, which is a medication that removes extra iron from your body
• Erythroid maturation agents (such as luspatercept), which are medications that increase hemoglobin levels and treat anemia, reducing the number of transfusions needed
• Surgery to take out your spleen
• Surgery to take out your gallbladder
• Transplant of bone marrow

You may have regular heart and liver function checks and genetic tests to monitor how you’re doing.

Your doctor may also prescribe folic acid to treat your anemia. Folic acid is a vitamin B supplement that helps develop red blood cells. You may take it every day, along with other treatments.

If your treatments don’t work, your doctor may recommend an investigational therapy, like hematopoietic stem cell transplantation. This may cure beta thalassemia, but it may have serious complications.

To choose the best treatment for you, your doctor will look at:

• How old you are
• Your overall health
• Your medical history
• How sick you are
• How you handle certain medications, procedures, and treatments
• How long you may have it
• Your preferences

Taking Care of Yourself

There’s a lot you can do to take care of yourself. With the right lifestyle choices and therapies, you can manage beta thalassemia and anemia symptoms like fatigue.

Try these tips:

• Eat a healthy, nutritious diet. Eat more fruits and vegetables and fewer fats. You may need to limit foods that are high in iron, like meat, fish, certain vegetables, and products with added iron, like cereal and orange juice.
• Exercise regularly. Try moderate activities like walking, biking, or running. If you need low-impact exercise for your joints, try swimming, water aerobics, or yoga.
• Get regular medical care. See a thalassemia specialist or hematologist, which is a doctor who treats blood disorders and diseases.
• Stick with your treatments. They may include blood transfusions and chelation therapy.
• Get all recommended vaccinations. This includes a flu vaccine. Stay up to date with your vaccinations.
• Practice good dental hygiene. Get regular checkups and cleanings. Ask your doctor if you should take antibiotics before you visit your dentist. This is called prophylaxis, and it may ward off infections.
• Avoid infections. Take extra care around germs. Practice good hygiene. Wash your hands often, and stay away from other people who may be sick.

What to Expect

If you have beta thalassemia intermediate or beta thalassemia major, you may have to juggle medical care visits. You may have blood transfusions, iron chelation therapy, regular blood tests, and routine physical exams.

Sometimes blood transfusions can lead to complications.

If you have a lot of blood transfusions, they may lead to iron overload. This is when the iron in your red blood cells builds up and collects in places like your brain, heart, or liver. This can be risky because it makes it hard for your organs to work well.

Your doctor may recommend iron chelation therapy to prevent this. This therapy is delivered as a medication, either a pill or a shot.

Another complication from blood transfusions is called alloimmunization. It’s when your immune system mistakenly thinks the new blood is harmful, so it tries to destroy it. If this happens, your doctor will check and compare the new blood to make sure your immune system won’t fight it off. That can add time and complications to your transfusions.

Getting Support

Life with beta thalassemia may have challenges. A strong support system can help. Talk to your doctor about resources that may help you manage.

Try a national support group like the Thalassemia Support Foundation or Cooley’s Anemia Foundation (CAF). These organizations offer things like:

• On-staff social workers
• Online support groups and communities
• Patient-family conferences
• Suggestions and solutions for problems related to beta thalassemia
• Up-to-date information

You can also get support at your transfusion center. You may find:

• Doctors and nurses who can answer your specific questions
• Education and support
• Other patients and families you can meet

You may find support online, through support groups, blogs, and chat rooms. You may meet other patients and families who understand what you’re going through. You may talk about issues related to beta thalassemia and share tips and medical information.

Caring for Your Emotional and Mental Health

The people in your life can be an important source of emotional support.

Reach out to trusted friends and family. They may be a good shoulder to lean on, help you deal with daily stress, and help make life with beta thalassemia easier. For example, co-workers or classmates may offer a ride to your medical appointment or a gentle reminder about your treatment schedule.

A professional therapist, social worker, or family counselor may help you manage life better.

Your hospital or treatment center may have a social worker on staff. A social worker may help you and your family manage the impact of beta thalassemia. They can help with things like:

• Balancing life demands
• Bills and finances
• Insurance
• School performance
• Social interactions
• Work issues

You may also get help from a psychologist, who has a PhD in counseling or psychotherapy, or a psychiatrist, who is a medical doctor who can also prescribe medication to help.

Tips for Living With It

There are many things you can do to manage your health and life with beta thalassemia.

Try these tips for living with beta thalassemia:

• Create good, open relationships with your health care team.
• Be friendly, patient, and open with your hematologist, nurse, and social workers.
• Speak up for yourself to get the care you need.
• Sharpen your communication skills so you can clearly and effectively share details about your medical history and needs with others.
• Stick with your treatments, and stay on track with your appointments.
• Talk to your employer if you need time off to go to a transfusion center. Ask if you can switch to evenings or weekends if you work during the week and that’s the only time you can go.
• Stay on track with your financial and insurance responsibilities by keeping good records.
• Get financial help to pay for important medication by calling the Cooley’s Anemia Foundation at 212-279-8090.
• Stay up to date on thalassemia information. Read up on new advances. Subscribe to the CAF newsletter for the latest news.
• Educate yourself about the standards of care for beta thalassemia. Talk to your doctor if they don’t follow the guidelines.

Meet the Care Team

You may have many health care providers on your team. They may work together to give you good overall care.

Your beta thalassemia team may include:

• Hematologists (doctors who specialize in blood disorders)
• Nurses
• Endocrinologists (doctors who specialize in organs that make hormones)
• Cardiologists (heart doctors)
• Gastroenterologists (doctors who specialize in your digestive tract)
• Infectious disease specialists (professionals who treat infections)
• Primary care doctors (your regular doctors, who do routine care)
• Social workers
• Psychologists
• Psychiatrists
• Nutritionists or dietitians

You’re an important part of the team. So is your family. It’s important to be open and talk to your providers about your beliefs, goals, needs, and preferences.

Information for Caregivers

If you have a child or family member with beta thalassemia, you may make important decisions that affect their life and well-being. You may coordinate their care, make sure they stick with their treatment, and create a supportive environment.

Try to set the right tone for your family member or loved one, especially if they’re a child. They’ll pick up on your cues, and others will follow your lead.

Try these tips:

• Be a positive role model by having a good attitude.
• Remember that there are new advances in treatment, which means people with beta thalassemia may live a long, productive life.
• Tell your child how proud you are that they’re managing this disorder.
• Be a good example for how to respond to challenges. Be optimistic and resilient. It’s OK to feel worried, but try to model a positive approach.
• Stay educated by reading up on beta thalassemia. Look to experts for input.
• Get support to help you manage life as a caregiver. Ask for help from health care professionals and other people in your life.