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Thalassemia
Mediterranean anemia; Cooley anemia; Beta thalassemia; Alpha thalassemia
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Causes
Hemoglobin is made of 2 proteins:
- Alpha globin
- Beta globin
Thalassemia occurs when there is a defect in a gene that helps control production of 1 of these proteins.
There are 2 main types of thalassemia:
- Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
- Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following 2 forms:
- Thalassemia major
- Thalassemia minor
You must inherit the gene defect from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the faulty gene from only 1 parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.
Beta thalassemia major is also called Cooley anemia.
Risk factors for thalassemia include:
- Asian, Chinese, Mediterranean, or African American ethnicity
- Family history of the disorder
Symptoms
The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life.
Anemia
Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...
Other symptoms can include:
- Bone deformities in the face
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Fatigue
Fatigue
Fatigue is a feeling of weariness, tiredness, or lack of energy.
Read Article Now Book Mark Article - Growth failure
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Shortness of breath
Shortness of breath
Breathing difficulty may involve:Difficult breathingUncomfortable breathingFeeling like you are not getting enough air
ImageRead Article Now Book Mark Article - Yellow skin (jaundice)
People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.
Exams and Tests
Your health care provider will do a physical exam to look for an enlarged spleen.
A blood sample will be sent to a laboratory to be tested.
- Red blood cells will appear small and abnormally shaped when looked at under a microscope.
-
A
complete blood count (CBC)
reveals anemia.
Complete blood count (CBC)
A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...
ImageRead Article Now Book Mark Article - A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
- A test called mutational analysis can help detect alpha thalassemia.
Treatment
Treatment for thalassemia major often involves regular blood transfusions and folate supplements.
If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.
People who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body.
A bone marrow transplant may help treat the disease in some people, especially children.
Outlook (Prognosis)
Severe thalassemia can cause early death (between ages 20 and 30) due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia often do not shorten lifespan.
You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children.
Possible Complications
Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.
Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.
When to Contact a Medical Professional
Call your provider if:
- You or your child has symptoms of thalassemia.
- You are being treated for the disorder and new symptoms develop.
References
Cappellini MD. The thalassemias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 162.
DeBaun MR, Frei-Jones MJ, Vichinsky EP. Hemoglobinopatiies. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 462.
Giardina PJ, Rivella S. Thalassemia syndromes. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice . 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 38.
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Thalassemia major - illustration
Thalassemia major is an inherited form of hemolytic anemia, characterized by red blood cell (hemoglobin) production abnormalities. This is the most severe form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life. If left untreated, death usually results within a few years. Note the small, pale (hypochromic), abnormally-shaped red blood cells associated with thalassemia major. The darker cells likely represent normal RBCs from a blood transfusion.
Thalassemia major
illustration
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Thalassemia minor - illustration
Thalassemia minor is an inherited form of hemolytic anemia that is less severe than thalassemia major. This blood smear from an individual with thalassemia shows small (microcytic), pale (hypochromic), variously-shaped (poikilocytosis) red blood cells. These small red blood cells (RBCs) are able to carry less oxygen than normal RBCs.
Thalassemia minor
illustration
-
Thalassemia major - illustration
Thalassemia major is an inherited form of hemolytic anemia, characterized by red blood cell (hemoglobin) production abnormalities. This is the most severe form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life. If left untreated, death usually results within a few years. Note the small, pale (hypochromic), abnormally-shaped red blood cells associated with thalassemia major. The darker cells likely represent normal RBCs from a blood transfusion.
Thalassemia major
illustration
-
Thalassemia minor - illustration
Thalassemia minor is an inherited form of hemolytic anemia that is less severe than thalassemia major. This blood smear from an individual with thalassemia shows small (microcytic), pale (hypochromic), variously-shaped (poikilocytosis) red blood cells. These small red blood cells (RBCs) are able to carry less oxygen than normal RBCs.
Thalassemia minor
illustration
Review Date: 2/12/2016
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
