Beta Thalassemia

What is a Beta Thalassemia?

Beta thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin and is inherited. Beta thalassemia is also known as erythroblastic anemia and Mediterranean anemia.

Beta thalassemia occurs most often among people from the Middle East, Asia, Africa, and Mediterranean countries like Turkey and Greece.  Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to the cells throughout the body.  The condition leads to a lack of oxygen in many parts of the body and is classified into two types: thalassemia major and thalassemia intermedia.

Individuals with the condition are at greater risk for developing blood clots.  The excessive destruction of red blood cells leads to anemia.  A correct diagnosis of the condition is made by taking a blood sample and having it tested for anemia and abnormal hemoglobin.

A lab technician will also examine the blood sample under a microscope to see if the blood cells have an odd shape.  Red blood cells that are oddly shaped are a sign of Beta thalassemia.  Frequent blood transfusions needed to treat the condition can lead to an iron buildup within the body that can lead to liver, heart, and hormone problems.

What are the Symptoms of Beta Thalassemia?

Individuals who are affected by Beta Thalassemia present common symptoms that include paleness, failure to thrive, severe anemia, frequent infections, a poor appetite, jaundice, enlarged organs, delayed puberty in adolescents, and misshapen bones.

Beta Thalassemia Causes

Beta thalassemia is a condition caused when the genes that produce hemoglobin protein chains are altered or missing; it is an actual mutation of the hemoglobin beta chains. This is a disorder that is inherited and is caused by genetic factors; any parent with one faulty gene and one normal gene is recognized as a carrier. Mild anemia is often the only symptom for carriers, but the gene can still be passed to their children.

Beta thalassemia, which is moderate to severe thalassemia, occurs when genes are inherited from both parents. Beta thalassemia can cause the human body to fall short in making a sufficient amount of beta globin protein. Having a single altered gene causes beta thalassemia minor, and it means the individual is a carrier and will likely pass it on without extensive genetic counseling.

How is Beta Thalassemia Treated?

There usually is no need for specific treatment In the case of thalassemia minor unless it leads to severe iron deficiency and anemia.

Patients with thakassemia major may require blood transfusions, surgical removal of the spleen or gallbladder, a bone marrow transplant, and medications and supplements.

Individuals may also be given chelation therapy to remove excess iron from the body and Allogeneic hematopoietic transplantation may be curative in some patients with Beta thalassemia.

Beta Thalassemia Prevention

In severe cases, blood transfusions can prevent blockages from causing complications, including death. There are many ways to prevent the disease from being passed on to children. If one parent has normal genes, the disease can be prevented; otherwise, there is not much that can be done.

Prevention is difficult because it is a hereditary disorder that is correlated to morbidity and a reduced life expectancy. Every woman has a chance of being a carrier, depending on ethnic background and family history.

While beta thalassemia cannot often be prevented, passing on the disease genetically can be. Women need to be screened during pregnancy for hemoglobin analysis and blood count and should undergo genetic counseling and prenatal diagnosis.

Some prenatal tests are able to reveal blood disorders prior to birth. Genetic studies could be of considerable aid in determining if hemoglobin genes have been altered or missing. If thalassemia runs in the family and an individual still wants to have kids, a genetic counselor should be consulted. An experienced doctor can conclude the risk level of passing on the disorder genetically.

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Last Reviewed:
October 09, 2016
Last Updated:
November 15, 2017
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