How is minor thalassemia detected?
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 thalassemia minor go undetected?
Many individuals with beta thalassemia minor go through life never knowing they carry an altered gene for the disorder. A beta thalassemia major diagnosis is usually made during the first two years of life and individuals require regular blood transfusions and lifelong medical care to survive.
At what age thalassemia is detected?
Most children with moderate to severe thalassemia receive a diagnosis by the time they are 2 years old. People with no symptoms may not realize they are carriers until they have a child with thalassemia. Blood tests can detect if a person is a carrier of thalassemia or has the condition.
How is alpha thalassemia minor diagnosed?
Molecular genetic testing can confirm a diagnosis of alpha thalassemia. Molecular genetic testing can detect mutations in the HBA1 and HBA2 genes known to cause the disorder, but is available only as a diagnostic service through specialized laboratories.
What tests confirm thalassemia?
Various blood tests are used to diagnose thalassemias:
- A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells.
- A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow is not producing an adequate number of red blood cells.
What is minor thalassemia?
Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment.
Does thalassemia minor affect periods?
Puberty may be delayed or progress abnormally in teenagers with thalassemia, due to iron build up impairing the function of the pituitary gland. This may lead to complications such as: Absence of menstruation, known as amenorrhea.
Can two thalassemia minor get married?
If both partners in a marriage are Thalassaemia Minor, there is a 25% chance in every pregnancy that their child will be a Thalassaemia Major. If both partners are Thalassaemia Minor and desire a child, a Pre Natal Test very early in the pregnancy will determine if the foetus is affected or not.
Does thalassemia show on CBC?
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.
Is thalassemia minor normal?
What is beta thalassemia minor?
(Definition/Background Information) Beta Thalassemia Minor (or Thalassemia Minor), a rare genetic blood disorder, is a defect in the synthesis of beta chains of hemoglobin (a protein that carries oxygen to the tissues). Unlike Thalassemia Major, Thalassemia Minor has only one defective beta globin gene
What are the chances of thalassemia major?
Since there is a defect in only one gene of beta globin chain, the normal hemoglobin A production is only minimally reduced. If both parents of a child are carriers of Thalassemia Minor, then there is a 25% chance that the child develops Thalassemia Major.
Can thalassemia be passed on to children?
If both parents of a child are carriers of Thalassemia Minor, then there is a 25% chance that the child develops Thalassemia Major. If only any one parent is affected by Thalassemia Minor, then the disorder will be passed on to the child.
What causes thalassemia in humans?
Basics About Thalassemia. Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells.