DIAGNOSIS
Alpha thalassemia is usually detected before a child’s second birthday or through newborn screening, a blood test performed shortly after birth. A bloated abdomen, anemic symptoms, and failure to thrive are common in children with alpha thalassemia major.
If the doctor suspects alpha thalassemia, the following tests will be ordered:
- Complete blood count (CBC)
- Hemoglobin electrophoresis with A2 and F quantitation
- FEP (free-erythrocyte protoporphyrin) and ferritin
A single blood test can be used for all of these tests. Also, the infant is diagnosed in a pregnant woman via CVS (chorionic villus sampling) or amniocentesis. A DNA test is necessary to diagnose alpha thalassemia.
TREATMENT
Your healthcare professional will determine the optimal medication for you based on the following factors:
- How sick you are.
- Your opinion or preference.
- How long the condition is expected to last.
- Your age, overall health, and medical history.
- How well you can handle specific medicines, procedures, or therapies.
The following treatments may be used:
- Surgery to remove your spleen.
- Blood transfusions (as needed).
- Daily doses of folic acid.
- Avoidance of certain oxidant drugs in hemoglobin H disease.
- Medicines to reduce extra iron from your body (called iron chelation therapy).