Book contents
- Frontmatter
- Contents
- List of Contributors
- Foreword, by H. Franklin Bunn
- Preface
- Introduction, by David J. Weatherall
- SECTION ONE THE MOLECULAR, CELLULAR, AND GENETIC BASIS OF HEMOGLOBIN DISORDERS
- SECTION TWO PATHOPHYSIOLOGY OF HEMOGLOBIN AND ITS DISORDERS
- SECTION THREE α THALASSEMIA
- SECTION FOUR THE β THALASSEMIAS
- SECTION FIVE SICKLE CELL DISEASE
- 19 Clinical and Pathophysiological Aspects of Sickle Cell Anemia
- 20 Sickle Cell Pain: Biology, Etiology, and Treatment
- 21 Hemoglobin SC Disease and Hemoglobin C Disorders
- 22 Sickle Cell Trait
- 23 Other Sickle Hemoglobinopathies
- SECTION SIX OTHER CLINICALLY IMPORTANT DISORDERS OF HEMOGLOBIN
- SECTION SEVEN SPECIAL TOPICS IN HEMOGLOBINOPATHIES
- SECTION EIGHT NEW APPROACHES TO THE TREATMENT OF HEMOGLOBINOPATHIES AND THALASSEMIA
- Index
- Plate section
- References
19 - Clinical and Pathophysiological Aspects of Sickle Cell Anemia
from SECTION FIVE - SICKLE CELL DISEASE
Published online by Cambridge University Press: 03 May 2010
- Frontmatter
- Contents
- List of Contributors
- Foreword, by H. Franklin Bunn
- Preface
- Introduction, by David J. Weatherall
- SECTION ONE THE MOLECULAR, CELLULAR, AND GENETIC BASIS OF HEMOGLOBIN DISORDERS
- SECTION TWO PATHOPHYSIOLOGY OF HEMOGLOBIN AND ITS DISORDERS
- SECTION THREE α THALASSEMIA
- SECTION FOUR THE β THALASSEMIAS
- SECTION FIVE SICKLE CELL DISEASE
- 19 Clinical and Pathophysiological Aspects of Sickle Cell Anemia
- 20 Sickle Cell Pain: Biology, Etiology, and Treatment
- 21 Hemoglobin SC Disease and Hemoglobin C Disorders
- 22 Sickle Cell Trait
- 23 Other Sickle Hemoglobinopathies
- SECTION SIX OTHER CLINICALLY IMPORTANT DISORDERS OF HEMOGLOBIN
- SECTION SEVEN SPECIAL TOPICS IN HEMOGLOBINOPATHIES
- SECTION EIGHT NEW APPROACHES TO THE TREATMENT OF HEMOGLOBINOPATHIES AND THALASSEMIA
- Index
- Plate section
- References
Summary
INTRODUCTION
Many authors have recounted the history of sickle cell disease in Africa and its first recognition in the United States Sickle-shaped red cells were first described in 1910 in the blood of a sick, anemic student from Grenada. Sickle hemoglobin (HbS) was identified in 1949 and the mechanism of inheritance of sickle cell anemia was established afterward. A single amino acid difference was found to distinguish the sickle β-globin chain from the normal one. The breadth of clinical and laboratory manifestations of sickle cell disease and its multitudinous complications still challenge the pediatrician, internist, general surgeon, obstetrician, orthopedist, ophthalmologist, psychiatrist, and subspecialists in each of these disciplines.
The features of sickle cell anemia change as life advances. Life's first decade, with declining fetal hemoglobin (HbF) levels, is typified by a risk of severe life-threatening infection, dactylitis, acute chest syndrome, splenic sequestration, and stroke; pain is often the torment of adolescence. If the worst of childhood and adolescent problems are survived or escaped, young adulthood can be a time of relative clinical quiescence, but sickle vasculopathy is likely to progress despite producing few symptoms. Chronic organ damage leading to pulmonary hypertension, deteriorating pulmonary function, renal failure, and late affects of previous cerebrovascular disease, including neurocognitive impairment, become paramount as years advance. Sickle cell anemia is noted for its clinical heterogeneity (Chapter 27). Any patient can have nearly all known disease complications; some have almost none, but die with a sudden acute problem.
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- Information
- Disorders of HemoglobinGenetics, Pathophysiology, and Clinical Management, pp. 437 - 496Publisher: Cambridge University PressPrint publication year: 2009
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