How do you diagnose thalassemia trait?
How do you diagnose thalassemia trait?
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.
Can CBC detect thalassemia trait?
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.
What does thalassemia look like on a CBC?
A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemias have fewer healthy red blood cells and less hemoglobin than normal; those with alpha or beta thalassemia trait may have smaller-than-normal red blood cells.
Can thalassemia trait have normal hemoglobin?
All red blood cells contain hemoglobin, which carries oxygen from the lungs to all parts of the body. People with beta thalassemia do not make enough hemoglobin. People with beta thalassemia trait have both normal hemoglobin A and the abnormal beta thalassemia (β) hemoglobin in their red blood cells.
How common is thalassemia trait?
In fact, only 1.7% of the global population has signs as a result of the gene mutations, which is known as a thalassemia trait. However, particular ethnic groups are more likely to be affected, with between 5% and 30% of these populations experiencing symptoms of thalassemia.
What is thalassemia profile test?
Thalassemia Profile is done to check if you are having thalassemia or not. In addition, couples who are getting married should undergo this test, to make sure that both are not thalassemia minors, as they then may give birth to a thalassemia major child (25% probability).
What should I do if I have thalassemia trait?
Treatment may include:
- Regular blood transfusions.
- Medicines to reduce extra iron from your body (called iron chelation therapy)
- Surgery to remove the spleen, if needed.
- Daily folic acid.
- Surgery to remove the gallbladder.
- Regular checks of heart and liver function.
- Genetic tests.
- Bone marrow transplant.
What causes thalassemia trait?
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
Is thalassemia trait the same as thalassemia minor?
People who have thalassemia trait (also called thalassemia minor) carry the genetic trait for thalassemia but do not usually experience any health problems except perhaps a mild anemia. A person may have either alpha thalassemia trait or beta thalassemia trait, depending upon which form of beta protein is lacking.
How do I know if I have thalassemia carrier?
You can find out if you’re a carrier of thalassaemia by having a simple blood test. The NHS Sickle Cell and Thalassaemia Screening Programme also has detailed leaflets about being a beta thalassaemia carrier or a delta beta thalassaemia carrier.
What is beta thalassaemia trait?
• Beta Thalassaemia Trait. A person with this condition has one normal gene and one with a mutation. They will usually experience no health problems other than microcytosis (small red blood cells) and a possible mild anaemia that will not respond to iron supplements. This gene mutation can be passed on to an individual’s children.
How is alpha thalassaemia trait diagnosed?
Diagnosis of alpha thalassaemia trait is usually by exclusion of other causes of microcytic anaemia. Confirmatory testing by DNA analysis is available but is not routinely done. • Haemoglobin H Disease (3 affected genes).
What are the signs and symptoms of thalassaemia?
A low MCH or MCV is often the first indication of thalassaemia. If the MCH or MCV is low and iron-deficiency has been ruled out, the person may be a thalassaemia trait carrier.
What are the effects of thalassemia on HBA levels?
This leads to a reduction in HbA, the relative increase in the amount of minor haemoglobins HbA2 and HbF, and perhaps detection of unusual haemoglobin types. The thalassaemias are usually classified by the type of globin chain whose synthesis is reduced.