alpha thalassemia genotyping

Indications: - alpha thalassemia Clinical significance: - diagnosis of alpha thalassemia trait requires quantitative PCR to detect reduced number of alpha globin genes Specimen: 1) whole blood (ACD or EDTA) 2) amniocytes 3) chorionic villi 4) store whole blood at 4 degrees C 5) store at -20 degrees C or below if nucleic acids cannot be extracted immediately

Specific

HBA1 gene mutation; hemoglobin alpha-1 gene mutation HBA2 CS gene HBA2 gene amplification; hemoglobin alpha-2 gene amplification; HBA2 gene triplication HBA2 gene deletion; hemoglobin alpha-2 gene deletion HBA2 gene mutation; hemoglobin alpha-2 gene mutation

References

Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995