The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies

J Clin Pathol. 2009 Jan;62(1):13-7. doi: 10.1136/jcp.2008.056945.

Abstract

The increase in haemoglobin (Hb)A(2) level is the most significant parameter in the identification of beta thalassaemia carriers. However, in some cases the level of HbA(2) is not typically elevated and some difficulties may arise in making the diagnosis. For these reasons the quantification of HbA(2) has to be performed with great accuracy and the results must be interpreted together with other haematological and biochemical evidence. The present document includes comments on the need for accuracy and standardisation, and on the interpretation of the HbA(2) value, reviewing the most crucial aspects related to this test. A practical flow-chart is presented to summarise the significance of HbA(2) estimation in different thalassaemia syndromes and related haemoglobinopathies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Algorithms
  • Blood Specimen Collection / methods
  • Genetic Carrier Screening / methods
  • Hemoglobin A2 / analysis*
  • Hemoglobinopathies / diagnosis
  • Humans
  • Infant
  • Infant, Newborn
  • Thalassemia / blood
  • Thalassemia / diagnosis*

Substances

  • Hemoglobin A2