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Related Experiment Videos

Normal individuals with high Hb A2 levels

D Gasperini1, A Cao, L Paderi

  • 1Clinica e Biologia Età Evolutiva, Università di Cagliari, Ospedale Regionale Microcitemie, USL21, Italy.

British Journal of Haematology
|May 1, 1993
PubMed
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Researchers identified a novel genetic trait causing elevated Hemoglobin A2 (HbA2) levels without affecting red blood cell indices. This dominant trait, observed in Sardinian families, is not linked to beta or delta globin gene defects, suggesting a new genetic cause for increased HbA2.

Area of Science:

  • Hematology
  • Medical Genetics
  • Molecular Biology

Background:

  • Typical heterozygous beta thalassaemia presents with increased Hemoglobin A2 (HbA2), reduced Mean Corpuscular Volume (MCV), and Mean Corpuscular Hemoglobin (MCH).
  • Alpha and beta thalassaemia double heterozygotes may exhibit normal MCV and MCH, but consistently show HbA2 within the carrier range.

Purpose of the Study:

  • To investigate the genetic basis of isolated increased HbA2 levels in two Sardinian families with normal red blood cell indices.
  • To identify novel genetic factors contributing to elevated HbA2 independent of known beta thalassaemia mutations.

Main Methods:

  • Phenotypic analysis including red blood cell indices (MCV, MCH) and HbA2 quantification.
  • Globin chain synthesis studies to assess protein production.

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  • DNA sequence analysis of beta and delta globin genes.

    • Main Results:

    • Two Sardinian families presented with elevated HbA2 levels and normal MCV and MCH.
    • Globin chain synthesis was normal in affected individuals.
    • DNA sequencing revealed no abnormalities in the beta and delta globin genes.

    Conclusions:

    • A novel genetic trait causing an isolated increase in HbA2 levels exists.
    • This trait is inherited in a dominant manner and is not caused by mutations within the beta globin gene cluster.
    • The findings suggest a genetic defect outside the beta globin gene cluster is responsible for this specific hematological presentation.