Clinical Disorders of Hemoglobin Structure and Synthesis, by Thomas F. Necheles, M.D., Ph.D., Donald M. Allen, M.D., and Harvey E. Finkel, M.D., F.A.C.P., with a foreword by Sydney S. Gellis, M.D. New York: Appleton-Century-Crofts, Education Division, Meredith Corporation (440 Park Avenue South, New York, New York 10016), 1969, 220 pp., $10.00

PEDIATRICS ◽  
1970 ◽  
Vol 45 (5) ◽  
pp. 898-898
Author(s):  
Howard A. Pearson
Keyword(s):  
New York ◽  
Sickle Cell ◽  
Normal Structure ◽  
Clinical Aspects ◽  
Hemoglobin Synthesis ◽  
Park Avenue ◽  
Clinical Disorders ◽  
Abnormal Hemoglobin ◽  
Biochemical Genetic ◽  
Book Covers

During recent years a number of monographs have been published. describing the biochemical, genetic, and clinical aspects of normal and abnormal hemoglobin synthesis. Although this book covers the same ground, its tone and emphasis reflect the authors' clinical base. It is primarily directed to clinicians, and so it is particularly readable and useful. After a brief survey of normal structure and synthesis, the authors concentrate on clinical and genetic aspects of abnormal hemoglobin syndromes. Most attention is devoted to sickle cell and Cooley's anemias.

scholarly journals Metabolism of Heterogenic Hemoglobins

Blood ◽  
1963 ◽  
Vol 22 (3) ◽  
pp. 334-341 ◽  
Author(s):  
RICHARD D. LEVERE ◽  
HERBERT C. LICHTMAN ◽  
Joan Levine
Keyword(s):  
Pulmonary Tuberculosis ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Hemoglobin S ◽  
Active Pulmonary Tuberculosis ◽  
Hemoglobin A ◽  
Abnormal Hemoglobin

Abstract The relative rates of incorporation of Fe59 into heterogenic hemoglobins was studied in four patients with sickle cell trait. Three of the patients were free of superimposed disease, while one had active pulmonary tuberculosis. In all subjects there was a significantly greater incorporation of radioiron, per milligram of hemoglobin, into hemoglobin S than into hemoglobin A. The data indicate that in sickle cell trait the rates of synthesis of the heterogenic hemoglobins are not proportional to their circulating concentrations. Two interpretations appear possible. Since the size of the intra-marrow pool of hemoglobin S was not known, it is possible that there exists a smaller preformed pool of the abnormal hemoglobin, with the isotope making its appearance first in hemoglobin S. However, it is also possible that hemoglobin S is synthesized at a rate which is greater than that reflected by its circulating concentration. This implies that the relative concentrations of hemoglobin S and hemoglobin A vary from erythrocyte to erythrocyte, and that those cells with the greatest proportion of hemoglobin S are selectively destroyed.

THE CRITICALLY ILL CHILD: SICKLE CELL DISEASE CRISES AND THEIR MANAGEMENT

PEDIATRICS ◽  
1971 ◽  
Vol 48 (4) ◽  
pp. 629-635
Author(s):  
Howard A. Pearson ◽  
Louis K. Diamond
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Mutant Gene ◽  
Point Of View ◽  
Clinical Aspects ◽  
Cell Disease ◽  
Form And Function ◽  
Heterozygous Form ◽  
The Many ◽  
And Function

This brief review, being limited in scope to the recognition and management of the life-threatening and painful crises in infants and children with sickle-cell disease, has not even touched on the intriguing mystery of the molecular basis for the sickling phenomenon–how one amino-acid substitution (gene controlled) in the beta chain sequence of 146 amino acids can cause such serious disruption in form and function; or how this mutation occurred in the first place and why it has persisted in contrast to the rapid disappearance of many other deleterious mutants. Nor has there been even mention of the many milder symptoms, signs, and complications due to the presence of Hb. S., either in the homozygous (disease-producing) state or heterozygous form when found in combination with other hereditary hemoglobin defects. The accumulated knowledge about this mutant gene, its biochemical effects, and geographic distribution is enormous. From a fundamental scientific standpoint, sickle cell disease is one of the best understood of human afflictions. However, from a practical point of view treatment of the patient himself is often only symptomatic and palliative. Nevertheless, prompt and effective therapy of the myriad manifestations of sickle cell disease can effectively reduce morbidity and mortality. The pediatrician who cares for black children in his practice should be familiar with the cardinal diagnostic and clinical aspects of sickle cell disease and its crises.

HEMOGLOBIN C. REPORT OF THE HOMOZYGOUS CONDITION AND OF COMBINATIONS WITH NORMAL AND SICKLE CELL HEMOGLOBIN

PEDIATRICS ◽  
1955 ◽  
Vol 15 (2) ◽  
pp. 185-190
Author(s):  
James L. Morgan ◽  
Richard M. Bowles ◽  
Jerome S. Harris
Keyword(s):  
Sickle Cell ◽  
Clinical Picture ◽  
Definitive Diagnosis ◽  
Homozygous Condition ◽  
Hemoglobin C ◽  
Abnormal Hemoglobin

Two families showing abnormal hemoglobin types are described. One case represents the fifth reported instance homozygous C disease. The clinical picture is discussed, and the importance of electrophoresis in making a definitive diagnosis is stressed.

scholarly journals Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Donovan Calder ◽  
Maryse Etienne-Julan ◽  
Marc Romana ◽  
Naomi Watkins ◽  
Jennifer M. Knight-Madden
Keyword(s):  
New York ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Laboratory Diagnosis ◽  
Compound Heterozygote ◽  
Cell Disease ◽  
Hemoglobin S

A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not previously known to cause retinopathy and surprisingly was observed in a non-Asian individual. The ophthalmological findings, the laboratory diagnosis, and possible pathophysiology of this disorder are discussed. Persons diagnosed with sickle cell trait who present with symptoms of sickle cell disease may benefit from specific screening for this variant.

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