HBA1 and HBA2 gene deletion in Amniotic fluid or Chorionic villus sample by Molecular genetics method

HBA1 + HBA2 Del Amn/CVS

Definition

Alpha-globin is an essential component of the hemoglobin tetramer, starting from the early stages of embryonic development. Deletion mutations involving one or both of the two alpha-globin genes (alpha1 and alpha2, located on chromosome 16p13) lead to reduced production of alpha-globin chains, and are the major cause of alpha-thalassemia. Severity of the disease is dependent on the total copy number of functional alpha-globin genes remaining. This assay detects the seven most common deletions (-alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, -FIL, and --THAI) found in patients with alpha-thalassemia. This assay is performed by allele-specific PCR amplification of deletion mutation fragments, followed by agarose gel electrophoresis of the amplification products.

AF; alpha-2 globin; Amn; Amn fl; Amn/CVS; Amnio; Amniotic flu; Amniotic fluid; Chorionic villi; Chorionic villus sample; Del; Deletions; Document; Finding; Findings; HBA1 + HBA2; HBA-T2; HBH; Hemoglobin, alpha 2; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.DELDUP; PCR; Point in time; Random