Alpha Thalassemia StripAssay (α-Globin)
The Viennalab Alpha Thalassemia StripAssay identifies 21 alpha-globin defects in the HBA1 and HBA2 genes by PCR followed by reverse hybridisation on a test strip. The panel covers the deletions, point mutations and the gene triplication that occur in Mediterranean, Middle Eastern and Southeast Asian populations. Alpha thalassemia is caused by reduced or absent production of alpha-globin chains. Because the phenotype depends on how many of the four alpha-globin genes are affected, and because deletions rather than point mutations are the usual cause, an assay for this condition has to cover both.
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This kit in detail
- 21 alpha-globin defects in HBA1 and HBA2
- Seven deletions, including the 3.7 and 4.2 single gene deletions and MED-I, SEA, THAI and FIL
- The anti-3.7 gene triplication and 13 point mutations
- Covers Mediterranean, Middle Eastern and Southeast Asian populations
- HS-Taq DNA Polymerase supplied (125 U); DNA extraction reagents are not
- 10 tests per kit, REF 4-160
The Viennalab Alpha Thalassemia StripAssay identifies alpha-globin gene defects, for the diagnosis of alpha thalassemia and for carrier and family testing. The intended use in the IFU is the identification of alpha-globin gene mutations based on PCR and reverse hybridisation.
Clinical background
Haemoglobin consists of alpha-globin and beta-globin chains. Every person carries four alpha-globin genes, two HBA1 and two HBA2. Alpha thalassemia results from reduced or absent alpha-globin production, and the severity follows the number of genes affected: carriers of a single defect are usually silent, two defects give alpha thalassemia trait with microcytosis, three give HbH disease, and the loss of all four causes hydrops fetalis. That gene-dose relationship is why the exact genotype, and not only the presence of a defect, determines counselling.
Defects covered
Seven deletions: the 3.7 and 4.2 single gene deletions and the MED-I, SEA, THAI, FIL and 20.5 kb double gene deletions. One triplication: anti-3.7. And 13 point mutations: α1 codon 14 [G to A], α1 codon 59 [G to A] (Hb Adana), α2 initiation codon [T to C], α2 codon 19 [-G], α2 IVS1 -5nt, α2 codon 59 [G to A], α2 codon 125 [T to C] (Hb Quong Sze), the four codon 142 variants Hb Constant Spring, Hb Icaria, Hb Pakse and Hb Koya Dora, and the polyadenylation variants poly A-1 and poly A-2.
Method and sample
The assay amplifies with biotinylated primers and hybridises the products to allele-specific probes immobilised as parallel lines on a test strip. Bound product is detected with streptavidin-alkaline phosphatase and a colour substrate, and the pattern is read by eye against the supplied Collector sheet. The kit uses three amplification mixes, A1, A2 and B, because detecting the deletions requires a different amplification strategy from the point mutations. HS-Taq DNA Polymerase is supplied (125 U). DNA extraction reagents are not supplied; for DNA prepared elsewhere a concentration of 2 to 10 ng/µl is specified, which is 10 to 50 ng per reaction.
Related assays
For beta-globin defects the Beta Thalassemia StripAssay is available in three region-specific versions, and the Beta Thalassemia Modifier StripAssay determines the polymorphisms that influence the severity of beta thalassemia.
- Amplification Mix A1 (250 µl)
- Amplification Mix A2 (250 µl)
- Amplification Mix B (250 µl)
- Taq Dilution Buffer (500 µl)
- HS-Taq DNA Polymerase (5 U/µl, 125 U)
- DNAT (1.5 ml)
- Hybridization Buffer (25 ml)
- Wash Solution A (80 ml)
- Conjugate Solution (25 ml)
- Wash Solution B (80 ml)
- Color Developer (25 ml)
10 tests per kit, REF 4-160. HS-Taq DNA Polymerase is supplied. DNA extraction reagents are not supplied; for DNA prepared with another method a concentration of 2 to 10 ng/µl is specified, which is 10 to 50 ng per reaction.
Datasheets and regulatory documentation
Everything your quality team needs for evaluation and procurement.
Instructions for Use
Frequently paired with this kit
Other assays and instruments lab teams add alongside the Alpha Thalassemia StripAssay (α-Globin).
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