What blood tests indicate thalassemia?

Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests.

• A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.
• Hemoglobin tests measure the types of hemoglobin in a blood sample.

What is beta minus thalassemia?

Beta-0 thalassemia refers to the absence of production of beta globin. When patients are homozygous for a beta0 thalassemia gene, they cannot make any normal beta chains (hemoglobin A). Beta + thalassemia indicates a mutation that presents decreased but not absent production of beta globin.

How is beta thalassemia minor treated?

People with thalassemia minor or trait usually do not need blood transfusions because they either do not have anemia or have only a mild anemia. Many times people with thalassemia are prescribed a supplemental B vitamin, known as folic acid, to help treat anemia. Folic acid can help red blood cells develop.

How common is beta thalassemia?

Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.

How do you rule out thalassemia?

If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

Is beta thalassemia serious?

Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

How rare is beta thalassemia major?

Beta thalassemia is relatively rare in the United States, but is one of the most common autosomal recessive disorders in the world. The incidence of symptomatic cases is estimated to be approximately 1 in 100,000 individuals in the general population.

Is beta thalassemia life threatening?

Beta thalassemia major (also called Cooley’s anemia). People with beta thalassemia major have life-threatening anemia. They need regular blood transfusions and other medical care.

Is beta thalassemia minor curable?

“Hematopoietic” stem cells are young cells in your bone marrow — the spongy center of your bones — that grow into new blood cells. During a stem cell transplant, you get healthy blood-forming cells from a donor to replace your own damaged cells. A stem cell transplant can cure beta thalassemia.