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Structural hemoglobinopathies: Analysis of 128 cases and their relevance in the diabetic control

Fernando Marques-Garcia1

  • 1Clinical Biochemistry Department, Clinical University Hospital of Salamanca, Salamanca, Spain.

Medicina Clinica
|January 31, 2021
PubMed

Insights

Structural hemoglobinopathies, genetic blood disorders, are increasingly detected during HbA1c testing in Europe. This study found a low incidence of these variants, highlighting the need for alternative monitoring methods for diabetic patients.

Area of Science:

  • Clinical Chemistry
  • Hematology
  • Genetics

Background:

  • Hemoglobinopathies are autosomal recessive monogenic disorders.
  • Increased migration in Europe leads to higher prevalence in non-endemic regions.
  • HbA1c testing for diabetes mellitus can incidentally detect hemoglobin variants.

Observation:

  • HPLC equipment was used to evaluate 65,000 patients for glycaemic monitoring.
  • 128 variants were identified, with an incidence of 0.19% in the study population.
  • Heterozygous S hemoglobinopathy was the most frequent variant, particularly in the foreign population.

Findings:

  • The study identified a lower incidence of structural hemoglobinopathies than estimated for Spain.
  • Primary Health Centers identified a significant portion of these variants (82).
  • Three patients with HbS/HbS (sickle cell anemia) were detected.

Implications:

  • Structural hemoglobinopathies can interfere with accurate HbA1c testing.
  • Alternative methods like glycated protein studies are recommended for monitoring diabetic therapy in affected individuals.
  • Early identification and management strategies are crucial, especially in diverse populations.
Abstract

Keywords:
ChromatographyCromatografíaEstructuralHbA(1c)HemoglobinopathiesHemoglobinopatíasIncidenceIncidenciaInterferenceInterferenciaStructural

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