Ad
related to: do you need a fragility test for thalassemia diseaseLearn more about alpha thalassemia and beta thalassemia. See the latest guidelines. Take a closer look to see what thalassemia is hiding. Check out our resources.
- About Thalassemia
Find more information on
thalassemia & how to manage.
- Managing Thalassemia
There's hope for managing the
symptoms & complications.
- Healthcare Professionals
Please visit this website if
you are a healthcare professional.
- Sign Up
Take a step forward. Sign up
for thalassemia updates.
- About Thalassemia
Search results
Nov 17, 2021 · For moderate to severe thalassemia, treatments might include: Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs. Chelation therapy.
Mar 31, 2024 · An osmotic fragility test is a blood test which works to see if red blood cells have a tendency to break apart easily. Two conditions that can cause this to happen are called thalassemia and ...
Mild thalassemia usually doesn't cause any symptoms. Moderate or severe disease may cause symptoms of anemia. For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes. Children with severe thalassemia may grow slowly (failure ...
Apr 5, 2024 · Thalassemias involving delta, gamma, epsilon, and zeta chains are rare and are usually not associated with significant disease outside of the neonatal period. The pathogenesis and treatment of thalassemia, including the role of hematopoietic stem cell transplantation, monitoring of iron stores, and iron chelation, are discussed in detail separately.
- Overview
- Symptoms and Causes
- Diagnosis and Tests
- Management and Treatment
- Prevention
- Outlook / Prognosis
- Living With
Thalassemia is an inherited blood disorder that affects your body’s ability to produce hemoglobin and healthy red blood cells. Types include alpha and beta thalassemia. Thalassemia may cause you to experience anemia-like symptoms that range from mild to severe. Treatment can consist of blood transfusions and iron chelation therapy.
Contents
Arrow Down
OverviewSymptoms and CausesDiagnosis and TestsManagement and TreatmentPreventionOutlook / PrognosisLiving With
Contents
Arrow Down
What causes thalassemia?
Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain — both alpha and beta — contains genetic information, or genes, passed down from your parents. Think of these genes as the “code” or programming that controls each chain and (as a result) your hemoglobin. If any of these genes are defective or missing, you’ll have thalassemia. Alpha globin protein chains consist of four genes, two from each parent. Beta globin protein chains consist of two genes, one from each parent. The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is.
What are the types of thalassemia?
Thalassemia is classified as trait, minor, intermedia and major to describe how severe the condition is. These labels represent a range where having a thalassemia trait means that you may experience mild anemia symptoms or no symptoms at all. You may not need treatment. Thalassemia major is the most serious form and usually requires regular treatment. There are two types of thalassemia — alpha thalassemia and beta thalassemia — named after defects in these chains.
What are the symptoms of thalassemia?
Your experience will depend on the type of thalassemia you have and how severe it is.
How is thalassemia diagnosed?
Moderate and severe thalassemia are often diagnosed in childhood because symptoms usually appear within the first two years of your child’s life. Your healthcare provider may order various blood tests to diagnose thalassemia: A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemia have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells. A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells. Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalassemia. Hemoglobin electrophoresis is used to diagnose beta thalassemia. Genetic testing is used to diagnose alpha thalassemia.
How is thalassemia treated?
Standard treatments for thalassemia major are blood transfusions and iron chelation. A blood transfusion involves receiving injections of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin. You’ll receive transfusions every four months with moderate or severe thalassemia, and with beta thalassemia major, every two to four weeks. Occasional transfusions may be needed (for instance, during times of infection) for hemoglobin H disease or beta thalassemia intermedia. Iron chelation involves the removal of excess iron from your body. A danger with blood transfusions is that they can cause iron overload. Too much iron may damage organs. If you receive frequent transfusions, you’ll receive iron chelation therapy (which you can take as a pill). Folic acid supplements can help your body make healthy blood cells. Bone marrow and stem cell transplant from a compatible related donor is the only treatment to cure thalassemia. Compatibility means the donor has the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person receiving the transplant. Your healthcare provider will inject bone marrow stem cells from your donor into your bloodstream during the procedure. The transplanted cells will start to make new, healthy blood cells within one month. Luspatercept is an injection that’s given every three weeks and can help your body make more red blood cells. It’s approved in the U.S. for the treatment of transfusion-dependent beta thalassemia.
What are the complications of thalassemia?
Your body may get too much iron (iron overload), either from frequent blood transfusions or the disease itself. Too much iron can cause damage to your heart, liver, and endocrine system. Your endocrine system includes glands that produce hormones that regulate processes throughout your body. You may get frequent severe infections, especially if you receive a lot of blood transfusions. The infections may be carried in the blood you receive during a transfusion. Healthcare providers carefully screen donor blood during transfusions to prevent this from happening. Care at Cleveland Clinic Benign Hematology Disorders Treatment Find a Doctor and Specialists Make an Appointment
Can thalassemia be prevented?
You can’t prevent thalassemia, but genetic testing can reveal whether you or your partner carry the gene. Knowing this information can help you plan your pregnancy if you plan to conceive. Speak to a genetic counselor for guidance on family planning if you suspect you or your partner may carry gene mutations for thalassemia.
Can thalassemia be cured?
A bone marrow transplant from a compatible sibling offers the best chance at a cure for thalassemia. Unfortunately, most people with thalassemia lack a suitable sibling donor. Also, a bone marrow transplant is a high-risk procedure that may result in severe complications, including death. Meet with a thalassemia specialist to determine whether you’re a candidate for a transplant. Choosing a high-volume hospital that regularly handles bone marrow transplants improves your chance of a cure while reducing your risk of complications.
What is the life expectancy of someone with thalassemia?
You should expect a normal life expectancy if you have mild thalassemia. Even if your condition is moderate or severe, you have a good chance of long-term survival if you follow your treatment program (transfusions and iron chelation therapy). Heart disease from iron overload is the leading cause of death in people with thalassemia, so keeping up with your iron chelation therapy is extremely important.
What kind of ongoing care will I need?
You’ll need frequent complete blood counts and blood iron tests. Your healthcare provider may recommend yearly heart function and liver function tests. They may also recommend tests for viral infection (as having thalassemia increases your risk of certain serious infections). You also will need a yearly test for iron overload in your liver. A note from Cleveland Clinic Thalassemia is a treatable condition. Your symptoms, the types of treatments you’ll need and how often you’ll need them depend on how mild or severe your thalassemia is. Ask your healthcare provider how your condition will determine your need for ongoing care. If you’re planning to become pregnant and suspect you or your partner may carry genes for thalassemia, seek testing and advice from a genetic counselor. Medically Reviewed Last reviewed by a Cleveland Clinic medical professional on 06/03/2022. Learn more about our editorial process.
Nov 14, 2019 · Symptoms of thalassemia. The symptoms of thalassemia can vary. Some of the most common ones include: bone deformities, especially in the face. dark urine. delayed growth and development. excessive ...
People also ask
Can a blood test detect thalassemia?
When is a thalassemia test done?
Who should I see if I have thalassemia?
Can mutation analysis confirm thalassemia diagnosis?
How are Thalassemia and hemoglobinopathies diagnosed?
At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non–transfusion-dependent thalassemia. This classification is based on the clinical severity of patients determining whether they do require regular blood transfusions to survive (transfusion-dependent thalassemia) or not (non–transfusion-dependent thalassemia). In addition to the previous ...
Ad
related to: do you need a fragility test for thalassemia diseaseLearn more about alpha thalassemia and beta thalassemia. See the latest guidelines. Take a closer look to see what thalassemia is hiding. Check out our resources.
