Summary
This short review describes the outline of the recently constructed atomic model of hemoglobin molecule and of the genetic variations expressed in the structural alteration of human hemoglobin variants.
The detailed comparisons of the relationship between high dimensional model and elucidated alterations of the primary structure have made it possible to relate the position of the individual amino acid substitutions to the function and stability of hemoglobin molecule, and further to the expression of unusual clinical syndroms: hemolytic anemia, cyanosis, erythrocytosis and so on.
The author also discussed the important problems in special reference to pleiotropic phenomenon in sickle cell hemoglobinopathy, variabilities of clinical manifestations in unstable hemoglobinopathies and compensating mechanism in erythrocytosis producing hemoglobinopathies.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Hayashi, A. Structural alterations, functional modifications and clinical manifestations of hemoglobin variants. Jap J Human Genet 22, 102–112 (1977). https://doi.org/10.1007/BF01874277
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01874277