Preferred Label : HBA1 & HBA2 gene deletion:Find:Pt:Amnio fld/CVS:Doc:Molgen;
LOINC status : ACTIVE;
LOINC display name : HBA1 and HBA2 gene del Molgen Doc (Amnio fld/CVS);
LOINC long common name : HBA1 and HBA2 gene deletion in Amniotic fluid or Chorionic villus sample by Molecular
genetics method;
LOINC short name : HBA1 HBA2 Del Amn/CVS;
LOINC description : 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.;
Origin ID : 103844-7;
UMLS CUI : C5885494;
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