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How is thalassemia diagnosed?

Thalassemia is diagnosed by blood tests. A full blood examination can be performed to check the levels of different components of blood. Hemoglobin electrophoresis is a test that measures the amounts of different forms of hemoglobin in blood. DNA analysis can be used to identify which gene mutations or deletions you have.

FAQ Frequently asked questions

What is thalassemia?

Thalassemia is the name given to a group of hereditary red blood cell disorders that involve hemoglobin production. People with thalassemia have red blood cells that are poorly formed with a shortened life span. This requires people with the condition to have regular …

What are the symptoms of thalassemia?

Signs and symptoms of thalassemia can include weakness, fatigue, jaundice (yellow coloring of skin), enlargement of organs, slow growth, failure to thrive, dark urine, abdominal swelling, and deformities of facial bones.

What causes thalassemia?

Thalassemia is a hereditary condition caused by gene mutations passed on from one or both of your parents.

Who gets thalassemia?

Thalassemia can affect both men and women. It is a hereditary condition that is passed down from one or both of your parents. Ethnicity can also be a risk factor: Alpha thalassemia is more common among people of Asian descent, while beta thalassemia is more common …

Are there different types of thalassemia?

Depending on the number and type of mutated genes or deleted genes, varying types of thalassemia are caused. Either alpha globin or beta globin - the components required to make hemoglobin - can be affected. There are multiple forms of each …

How is thalassemia treated?

The treatment of thalassemia depends on the type and severity of the condition. No treatment is required for carriers of alpha thalassemia or beta thalassemia minor. Hemoglobin H disease and beta thalassemia major are treated with regular blood transfusions. …

Can thalassemia be cured?

Dealing with thalassemia can often be difficult. If you are a carrier, no treatment is required, but there is a risk of having a child with thalassemia if your partner is also a carrier. If you have a more severe form of thalassemia, regular blood transfusions …

Is thalassemia contagious?

Thalassemia is not a contagious condition.

Can thalassemia be prevented?

Thalassemia is a condition that people are born with. If you are planning on having a baby, screening is possible to identify if you or your partner are carriers of thalassemia. This is particularly important if there is a family history of the condition. This …

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About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 18 Sep 2014
Last reviewed: 19 May 2018
Rating: 4.2 out of 5
Votes: 210 (Click smiley face below to rate)
Category: Cystic fibrosis

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