Incidence of hemoglobinopathies and thalassemias in Northern Alberta. Establishment of reference intervals for HbF and HbA2.

Authors:
Dr. Karina Rodriguez-Capote, MD, PhD
Dr. Karina Rodriguez-Capote, MD, PhD
University of British Columbia
Clinical Associate Professor
Biomarkers in neurology, immunology and oncology.
New Westminster, BC | Canada

Clin Biochem 2015 Jul 11;48(10-11):698-702. Epub 2015 Apr 11.

DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada; Dept. Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.

Objectives: The aims of this study were to identify the incidence of hemoglobinopathies and thalassemias in Northern Alberta and calculate the reference intervals (RI) for hemoglobin (Hb) HbF and HbA2.

Methods: A retrospective ad-hoc analysis of the structural Hb variants and thalassemias identified on patients who had a hemoglobinopathy/thalassemia investigation performed between February 1 to December 31, 2013. Results were extracted from the Laboratory Information System. Statistical analysis was performed using MedCalc® version 11.4.2.0 for Windows software.

Results: 6616 hemoglobinopathy/thalassemia investigations and HbS screens were physician requested and 602 Hb variants were fortuitously found during HbA1c analysis. 3438 were interpreted as "normal" and 532 were classified as iron deficient. 3306 individuals, with age ranging from 3 to 92 years were included in the RI calculation. HbA2 RI was 2.3% to 3.4% and HbF 0.0% to 1.8%. 524 and 423 α and β thalassemia traits respectively were identified. Additionally ten δβ thalassemia traits and twelve cases of HbH disease were identified. Regarding hemoglobinopathies, 7% were classified as α-chain variants and 93% as β-chain variants with HbS (46%), HbE (16%), HbD Punjab (8%) and HbC (7%) traits being the most prevalent. We also documented 20 homozygous hemoglobinopathies and 36 compound/double heterozygous hemoglobinopathies.

Conclusion: A wide diversity of hemoglobinopathies is found in the Northern Alberta population, 80% of the hemoglobinopathies were found as a reflex to HbA1c testing. Reference intervals for HbF and HbA2 were established.

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http://dx.doi.org/10.1016/j.clinbiochem.2015.04.001DOI Listing
July 2015
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