Sickle cell anemia a molecular disease.

@article{Pauling1949SickleCA,
  title={Sickle cell anemia a molecular disease.},
  author={Linus Carl Pauling and Harvey A. Itano},
  journal={Science},
  year={1949},
  volume={110 2865},
  pages={
          543-8
        }
}
The erythrocytes of certain individuals possess the capacity to undergo reversible changes in shape in response to changes in the partial pressure of oxygen. When the oxygen pressure is lowered, these cells change their forms from the normal biconcave disk to crescent, holly wreath, and other forms. This process is known as sickling. About 8 percent of American Negroes possess this characteristic; usually they exhibit no pathological consequences ascribable to it. These people are said to have… 
Treatment of sickle cell anemia with cobalt chloride.
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The patients being presented in this report were well enough to be inducted into the army and there are definite variations in the severity of the anemia produced.
THE STATE OF HEMOGLOBIN IN SICK.LED ERYTHROCYTES
  • Biology, Medicine
  • 2003
Sickle cell anemia has been termed a "molecular disease" because of the demonstration that it is due to a genetically determined abnormality of hemoglobin, consisting of a single amino acid
Ocular manifestations of sickle-cell disease.
TLDR
The tendency for red blood cells to assume a sickled shape under conditions of low oxygenation has been demonstrated predominantly in the Negro race, and familial electrophoretic studies and genetic investigations established the hereditary basis for the sickling phenomenon.
Data pertaining to the population dynamics of sickle cell disease.
  • J. Neel
  • Medicine
    American journal of human genetics
  • 1953
UNDER CONDITIONS of low oxygen tension, the erythrocytes of certain Negroes assume bizarre shapes, the so-called sickling phenomenon. The great majority of individuals whose erythrocytes can be
Inborn Errors of Metabolism
TLDR
This paper presents the first demonstration of a genetically controlled abnormal protein in the phenotype of sickle cell anemia, responsible for the complex symptomatology of Sickle Cell Anemia.
Overview of Sickle Cell Anemia Pathophysiology
TLDR
The prime approach to treatment would be to effectively increase the level of the antisickling fetal hemoglobin in most sickle erythrocytes thereby thwarting all downstream effects of this primary pathophysiologic event.
THE PHYSICAL STATE OF HEMOGLOBIN IN SICKLE-CELL ANEMIA ERYTHROCYTES IN VIVO
TLDR
Observations reported here lead to these conclusions: explanations of the sickling process derived from in vitro experimentation may with validity be applied to sickling in vivo and the term "sickled" must be used with caution: a sickle-shaped membrane does not necessarily endose Hb S in filamentous form.
Studies in sickle-cell anemia. VIII. Further observations on the clinical manifestations of sickle-cell anemia in children.
TLDR
The red blood cells in both sickle-cell anemia and the sickling trait contain an abnormal hemoglobin ("S" hemoglobin) and are capable of distorting their shape when exposed to reduced oxygen tension.
A new hemoglobin variant with sickling properties.
TLDR
Sickle-cell anemia became the first example of a molecular disease in which the product of gene mutation was characterized, and a single amino acid substitution, valine for glutamic acid, in each identical half hemoglobin molecule containing approximately 300 amino acids was shown.
Hemolysis in sickle cell disease.
TLDR
Data obtained by means of endogenous production of carbon monoxide have shown that the mean rate of heme catabolism is approximately six times normal but varies from 3 to 14 times normal in individual patients, document the consistent presence of a severe hemolytic process in sickle cell anemia.
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TLDR
The ability of the red cells to sickle was observed to have a genetic basis not long after sickle cell anemia, and this hypothesis has a counterpart in the relationship which has been demonstrated to exist between thalassemia major and minor.
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Some twenty-five years ago, discussion about red cell structure was confined to enquiries as to the chemical composition of the cell, as to whether i t has or has not a surface membrane, whether its
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The isoelectric points of pig, cow, horse, and rabbit antibodies have been determined and prolonged immunization is accompanied by the formation of another antibody component of lower mobility in horse sera.
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An electrophoresis apparatus with several improved features is described. Principal developments are the use of mirrors in the optical system, kinematic mechanical design, and a current regulating
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