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Related Experiment Videos

The structure and function of normal and abnormal haemoglobins

T H Huisman1

  • 1Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

Bailliere'S Clinical Haematology
|March 1, 1993
PubMed
Summary

This review covers normal human haemoglobins across development and highlights factors influencing fetal haemoglobin (Hb F) levels in adults. Understanding Hb variants and advanced detection methods is crucial for managing hemoglobinopathies like sickle cell anemia.

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Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Human haemoglobins vary significantly from embryonic to adult stages.
  • Fetal haemoglobin (Hb F) levels in adults are important for managing certain hemoglobinopathies.
  • Over 600 haemoglobin variants have been identified, many resulting from single-point mutations.

Purpose of the Study:

  • To review general aspects of normal human haemoglobins.
  • To emphasize factors affecting fetal haemoglobin levels in adults.
  • To discuss the detection and characterization of haemoglobin variants.

Main Methods:

  • Review of published literature on haemoglobin variants.
  • Isoelectrofocusing and micro chromatographic procedures for Hb detection.

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  • DNA analysis including amplification, oligonucleotide probes, and sequencing for variant characterization.

    • Main Results:

    • Over 600 haemoglobin variants identified, with approximately 200 having clinical significance.
    • Advanced molecular techniques have improved the detection and characterization of Hb variants.
    • Understanding Hb F regulation offers therapeutic potential for hemoglobinopathies.

    Conclusions:

    • Continued discovery of Hb variants underscores the complexity of globin gene mutations.
    • Modern molecular diagnostic tools are essential for accurate haemoglobin variant identification.
    • Targeting Hb F levels presents a promising strategy for treating sickle cell anaemia and beta-thalassaemia.