Chapter IX 



Correlations between Genetics and 

 Chemistry of Human Hemoglobins 



CORRADO BAGLIONI^ 



Department of Biology, 

 Massachusetts Institute of Technology, 

 Cambridge, Massachusetts 



I. Introduction 405 



II. Tlie Separation of Human Hemoglobins by Chromatography and 



Electrophoresis 406 



III. Normal Hemoglobins 409 



A. Hb-A 409 



B. Hb-F 415 



C. Hb-A, 418 



D. Considerations on the Amino Acid Sequence of the Human 



Hemoglobin Chains 419 



E. Hb-Aa 420 



F. Embryonic Hemoglobin 421 



IV. Abnormal Hemoglobins 421 



A. Hb-A Variants— Chemical Studies 423 



B. Formal Genetics of the Hb-A Variants 436 



C. Genetic and Biochemical Relationships 438 



D. Dissociation and Recombination of Hemoglobin 440 



E. Hb-F Variants 442 



F. Hb-A, Variants 444 



G. The Problem of Thalassemia 449 



H. Abnormal Hemoglobins from Altered Aggregation of 



Peptide Chains 453 



Y. The Control of the Synthesis of Hemoglobin 456 



A. The Control of the Rate of Synthesis of the Peptide Chains . 456 



B. The Control of the Synthesis of Fetal and Adult Hemoglobin . . 459 



C. Hereditary Persistence of Hb-F 462 



D. Models of Red Cell Differentiation and Synthesis of Hb-F ... 466 



Acknowledgments 469 



References 469 



I. Introduction 



Substantial advances in our knowledge of the genetics and chemistiy 

 of the human hemoglobins have been made recently and the attention 



^Present address: International Laboratory for Genetics and Biophysics, Naples, 

 Italy. 



405 



