How is alpha thalassemia diagnosed?
The frequency of carriers for alpha thalassemia is about one in 30 in persons who are southeastern Asian or Chinese. The frequency in other populations has not been specifically studied, but is estimated at one in 300. Carrier status can be determined by the following: complete blood count (CBC) – a measurement of size, number, and maturity of different blood cells in a specific volume of blood. hemoglobin electrophoresis with A2 and F quantitation – a lab procedure that differentiates the types of hemoglobin present. FEP (free-erythrocyte protoporphyrin) and ferritin – to exclude iron-deficiency anemia. All of these studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.
