THE CLINICAL IMPLICATIONS OF HEMOGLOBIN STRUCTURE

I FEEL DEEPLY HONORED to be named as one of the recipients of the 1962 Mead Johnson Awards for research in pediatrics. I am grateful for this opportunity to express my indebtedness and gratitude to the many who have aided me, and especially to my sponsor, Dr. Louis K. Diamond. His unwavering confidence and unselfish support were major contributing factors toward the successful completion of these research efforts. Lack of time prevents me from giving an adequate list of those other teachers and associates who contributed significantly toward my research efforts and training, but time can never be so short as to prevent me from mentioning my stimulating and energetic co-worker, Dr. Mary Efron. I have saved to the last, mention of my wife, as she has so often cheerfully been the vital silent partner of experiments that seemed always to last "just a little longer" than I expected. In order to make this a coherent presentation, I am going to dwell solely upon the "Hb M diseases." This group of hemoglobinopathies is characterized by the presence of cyanosis in several generations of a given family, being transmitted as if determined by the presence of a single abnormal gene (i.e., "dominant" inheritance). In the first family of this disorder that came to our attention, the cyanosis was an incidental finding in a child whose chief complaint was an obscure peripheral neuritis. There seemed to be little relation between the peripheral neuritis and the cyanosis, since the child's brother, father, paternal aunt and other relatives also were cyanotic (Fig. 1), although lacking any neuritis.