[Application of mPCR and MLPA in diagnostics of alpha-thalassaemia]

Przegl Lek. 2010;67(7):460-4.
[Article in Polish]

Abstract

The thalassamias are inherited disorders resulting from unbalanced synthesis of normal polypeptide chains of haemoglobins: of alpha chains in alpha-thalassemia and of beta chains in beta-thalassemia. In Poland, in contrast to beta-thalassaemia, there is no routine diagnostic approach to alpha-thalassaemia. In the present study, for detection of alpha-thalassemia we employed Multiplex-PCR (mPCR) and Multiplex Ligation-dependent Probe Amplification (MPLA). 48 patients with microcytosis and normal or decreased level of haemoglobin HbA2 were examined. In 10 patients three different kinds of deletion mutations in alpha-globin genes were detected: homozygotes and heterozygotes of -alpha(3.7) mutation (-alpha(3.7/-alpha(3.7) and -alpha(3.7)alpha alpha respectively), heterozygotes of Asian mutations (--SEA/alpha alpha), and a heterozygote of Mediterranean mutation (--MED alpha alpha). Our results demonstrate the usefulness of the combined methods of mPCR and MLPA in the diagnostics of alpha-thalassaemia.

Publication types

  • English Abstract

MeSH terms

  • Biomarkers / metabolism
  • Female
  • Hemoglobin A2 / metabolism*
  • Humans
  • Male
  • Nucleic Acid Amplification Techniques / methods*
  • Polymerase Chain Reaction / methods*
  • Sequence Deletion*
  • alpha-Globins / genetics*
  • alpha-Thalassemia / blood*
  • alpha-Thalassemia / diagnosis*

Substances

  • Biomarkers
  • alpha-Globins
  • Hemoglobin A2