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

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.

• Authors: Anna Splitt, Urszula Mokras, Jerzy Windyga, Jerzy Kościelak
• Journal: Przeglad lekarski (Przegl Lek) Vol. 67 Issue 7 Pg. 460-4 ( 2010) ISSN: 0033-2240 [Print] Poland
• Vernacular Title: Zastosowanie metod mPCR i MLPA w diagnostyce talasemii alpha.
• PMID: 21387755 (Publication Type: English Abstract, Journal Article)

Chemical References

• Biomarkers
• alpha-Globins
• Hemoglobin A2

Topics

• 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, diagnosis)