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

• whole blood (ACD or EDTA)
• amniocytes
• chorionic villi
• store whole blood at 4 degrees C
• store at -20 degrees C or below if nucleic acids cannot be extracted immediately

More general terms

• hemoglobin genotyping

More specific terms

• 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

Additional terms

• alpha thalassemia