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Updated: May 14, 2026

09:43
Measurement of Heme Synthesis Levels in Mammalian Cells
Published on: July 9, 2015
Hemoglobin variants: biochemical properties and clinical correlates
Christopher S Thom1, Claire F Dickson, David A Gell
1Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Cold Spring Harbor Perspectives in Medicine
|February 8, 2013
Summary
Human hemoglobin variants, common worldwide, alter protein structure and function, impacting health. Research on these genetic mutations provides key insights into hemoglobin biology and hematology.
Area of Science:
- Biochemistry
- Genetics
- Hematology
- Structural Biology
- Medicine
Background:
- Hemoglobinopathies, diseases of hemoglobin synthesis and function, are globally prevalent.
- Over 1000 human hemoglobin variants, primarily single amino acid substitutions, have been identified.
- These variants affect hemoglobin structure and biochemical properties, leading to a spectrum of physiological effects.
Purpose of the Study:
- To review major classes of human hemoglobin variants.
- To emphasize general concepts and provide illustrative examples of hemoglobin variants.
- To highlight the significance of hemoglobin variant studies in advancing scientific understanding.
Main Methods:
- Review of existing literature on human hemoglobin variants.
- Analysis of clinical and laboratory manifestations of hemoglobin variants.
- Synthesis of information on hemoglobin biochemistry, biology, and genetics.
Main Results:
- Hemoglobin variants significantly impact human health, ranging from minor to severe physiological effects.
- Studies of these variants have yielded substantial knowledge in hemoglobin biochemistry and biology.
- Landmark hemoglobin research has established paradigms in structural biology, genetics, biochemistry, and medicine.
Conclusions:
- Understanding hemoglobin variants is crucial for hematology practice.
- The study of hemoglobin variants has broad implications across multiple scientific disciplines.
- Continued investigation into hemoglobin variants promises further advancements in medicine and biology.
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