Classification of the disorders of hemoglobin
Over the years, study of the disorders of hemoglobin has served as a paradigm for gaining insights into the cellular and molecular biology, as well as the pathophysiology, of inherited genetic disorders. To date, more than 1000 disorders of hemoglobin synthesis and/or structure have been identified...
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| Veröffentlicht in: | Cold Spring Harbor perspectives in medicine 2013-02, Vol.3 (2), p.a011684-a011684 |
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| container_title | Cold Spring Harbor perspectives in medicine |
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| creator | Forget, Bernard G Bunn, H Franklin |
| description | Over the years, study of the disorders of hemoglobin has served as a paradigm for gaining insights into the cellular and molecular biology, as well as the pathophysiology, of inherited genetic disorders. To date, more than 1000 disorders of hemoglobin synthesis and/or structure have been identified and characterized. Study of these disorders has established the principle of how a mutant genotype can alter the function of the encoded protein, which in turn can lead to a distinct clinical phenotype. Genotype/phenotype correlations have provided important understanding of pathophysiological mechanisms of disease. Before presenting a brief overview of these disorders, we provide a summary of the structure and function of hemoglobin, along with the mechanism of assembly of its subunits, as background for the rationale and basis of the different categories of disorders in the classification. |
| doi_str_mv | 10.1101/cshperspect.a011684 |
| format | Article |
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| ispartof | Cold Spring Harbor perspectives in medicine, 2013-02, Vol.3 (2), p.a011684-a011684 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Anemia, Sickle Cell - classification Anemia, Sickle Cell - genetics Globins - metabolism Hemoglobinopathies - classification Hemoglobinopathies - genetics Hemoglobins - chemistry Hemoglobins - physiology Hemoglobins, Abnormal - genetics Humans Intellectual Disability - genetics Mutation Myelodysplastic Syndromes - genetics Oxygen - metabolism Phenotype Protein Biosynthesis Thalassemia - classification Thalassemia - genetics |
| title | Classification of the disorders of hemoglobin |
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