Alpha Thalassemia

Alpha thalassemia: Alpha thalassemia is caused by deletions involving the alpha globin gene cluster. Point mutations also contribute to causality but are rare. The molecular defects such as two gene or three gene deletions are characterized by gene dosage followed by GAP PCR or fragment analysis (gene dosage/MLPA) and the point mutations by Sanger DNA sequencing. 

Alpha Thalassemia
Figure 1: Algorithm for the detection of alpha thalassaemia variants

 

References: 

  1. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF. Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood. 1993 Jan 1;81(1):239-42.
  2. Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity, Clin Genet.2008 Apr;73(4):331-7.
  3. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of beta-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol. 1991 Jun;78(2):242–7.
  4. Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood. 2001 Jul 1;98(1):250-1.

 

Note : The above methodology describes the approach to diagnosis followed in CMC, Vellore. This is not a recommendation or guidelines, participants are free to choose their own methodology(ies).

Participation Fee : 2000 INR

Participation Fee - As package

If you choose to participate in assessments by choosing them as a package, here is the pricing. You can choose any ONE package and can choose any other assessment individually that does not include in your chosen package.

Package 1

7,000 INR Per EQAS

  • Haemophilia A
  • Haemophilia B
  • Beta Thalassemia
  • Alpha Thalassemia
  • Thrombophilia

Package 2

5,500 INR Per EQAS

  • JAK2 V617F
  • NPM1/FLT3 ANALYSIS
  • RT PCR BCR-ABL1/PML-RARA

Package 3

9,000 INR Per EQAS

  • Haemophilia A
  • Haemophilia B
  • Beta Thalassemia
  • Alpha Thalassemia
  • Thrombophilia
  • JAK2 V617F
  • NPM1/FLT3 ANALYSIS
  • RT PCR BCR-ABL1/PML-RARA

Package 4

12,500 INR Per EQAS

  • All the assessments
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