44. Analysis of Hemoglobinopathies, Hemoglobin Variants and Thalassemias

  1. Kandice Kottke-Marchant MD, PhD3,4,5 and
  2. Bruce H. Davis MD6
  1. Monica V. E. Gallivan MD1 and
  2. Piero C. Giordano PhD2

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch44

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Gallivan, M. V. E. and Giordano, P. C. (2012) Analysis of Hemoglobinopathies, Hemoglobin Variants and Thalassemias, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch44

Editor Information

  1. 3

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 4

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 5

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 6

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Hematology, Quest Diagnostics Nichols Institute, Chantilly, VA, USA

  2. 2

    Clinical biochemical molecular geneticist, Center for Human and Clinical Genetics, Leiden Academic Hospital (LUMC), Leiden, The Netherlands

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595

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Keywords:

  • α-thalassemia;
  • β-thalassemia;
  • hemoglobinopathy;
  • sickle cell disease;
  • solubility test;
  • alkaline electrophoresis;
  • acid electrophoresis;
  • isoelectric focusing;
  • high-performance liquid chromatography;
  • capillary zone electrophoresis;
  • diagnostics;
  • newborn screening

Summary

Hematology laboratories play a major role in the diagnosis of hemoglobinopathies. These disorders encompassing both abnormal hemoglobins and thalassemias are unique among recessive genetic diseases, in that the majority of healthy carriers can be identified, and their genotype predicted, by simple hematologic and biochemical tests. These tests include a CBC, and a screening method to identify and measure normal and abnormal hemoglobin fractions.

While the most commonly used screening methods are electrophoretic, many laboratories are converting to high-performance liquid chromatography (HPLC) or capillary electrophoresis, which combine screening with accurate quantitation of the hemoglobin fractions. Molecular testing is also routinely available. These new technologies increase the complexity of interpretation, as many variants that are silent by routine electrophoresis are identified. In addition genetic test results require correlation with the hematologic and biochemical findings. Consequently, genetic counselors, general practitioners, pediatricians, obstetricians, and hematologists are increasingly turning to laboratorians engaged in the diagnosis of hemoglobinopathies for guidance in test ordering and interpretation.