- 19. Genetic and Genomic Approaches to Clinical Medicine
- 20. Genetic and Genomic Taxonomy of Human Disease
- 21. Genomics of Complex Cardiovascular Disease
- 22. Genomics of Type 2 Diabetes Mellitus and Obesity
- 23. Genetics and Genomics of Osteoporosis and Related Disorders
- 24. Genetics and Genomics of Chronic Kidney Disease
- 25. Genetics and Genomics in Clinical Hematology, I: Hemostasis and Thrombosis
- 26. Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin
- 27. Genetic and Genomics in Clinical Hematology, III: Acute Leukemias
- 28. Genetics and Genomics of Chronic Inflammatory Disorders, I: Inflammatory Bowel Disease
- 29. Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies
- 30. Genetics and Genomics of Chronic Inflammatory Disorders, III: Bronchial Asthma
- 31. Genetics and Genomics of Neuro-Psychiatric Diseases, I: Seizure Disorders
- 32. Genetics and Genomics of Neuro-Psychiatric Diseases, II: Multiple Sclerosis
- 33. Genetics and Genomics of Neuro-Psychiatric Diseases, III: The Common Dementias
- 34. Genetics and Genomics of Neuro-Psychiatric Diseases, IV: Schizophrenia and Bipolar Disorder
- 35. Genetics and Genomics of Neuro-Psychiatric Diseases, V: Learning and Behavioral Disorders
- 36. Clinical Cancer Genomics
- 37. Genomics and Infectious Diseases: Susceptibility, Resistance, Response, and Antimicrobial Therapy
- 38. Genomic Perspectives of Clinical Immunology
- 39. Genomic Applications in Clinical Pediatrics
- 40. Genetics and Genomics in Clinical Ophthalmology, I: The Spectrum of Genetic Eye Disease
- 41. Genetics and Genomics in Clinical Ophthalmology, II: Glaucoma
- 42. Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration
- 43. Genomic Applications in Audiological Medicine
- 44. Genetics and Genomics of Skin Diseases I: Atopic Dermatitis and Other Skin Complex Diseases
- 45. Genetics and Genomics of Skin Diseases, II: Genomics of Pigmentation and Skin Cancer
- 46. The Genetic and Genomic Practice of Reproductive Medicine
- 47. Stem Cell Genomics: Developmental Competence
- 48. Genomic Applications in Critical Care Medicine
- 49. Molecularly Targeted Therapy for Mendelian Disorders
- 50. Glossary for Genetic and Genomic Medicine<sup>*</sup>
(p. 404) Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin
- Chapter:
- (p. 404) Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin
- Author(s):
Sir David J. Weatherall
- DOI:
- 10.1093/med/9780199896028.003.0026
The inherited disorders of haemoglobin are by far the commonest single gene disorders. It is currently estimated that between 300,000 and 400,000 babies are born each year with one of these disorders, the bulk of the births being in the low- or middle-income countries. Because the high frequency of these conditions reflects heterozygote resistance to malaria, a high frequency of consanguinity in many of the countries in which the disease is common, and the epidemiological transition whereby improved nutrition and public health facilities are allowing more affected babies to survive to come for diagnosis and treatment. It seems likely that the birth rate of these conditions will continue to expand for the foreseeable future. Here, I shall review briefly what is known about the molecular pathology, pathophysiology, clinical features and approaches to prevention and management of the inherited haemoglobin disorders and then define the questions that remain in this field and how they might be approached by more recent technology derived from genomics.
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- 19. Genetic and Genomic Approaches to Clinical Medicine
- 20. Genetic and Genomic Taxonomy of Human Disease
- 21. Genomics of Complex Cardiovascular Disease
- 22. Genomics of Type 2 Diabetes Mellitus and Obesity
- 23. Genetics and Genomics of Osteoporosis and Related Disorders
- 24. Genetics and Genomics of Chronic Kidney Disease
- 25. Genetics and Genomics in Clinical Hematology, I: Hemostasis and Thrombosis
- 26. Genetics and Genomics in Clinical Hematology, II: Inherited Disorders of Hemoglobin
- 27. Genetic and Genomics in Clinical Hematology, III: Acute Leukemias
- 28. Genetics and Genomics of Chronic Inflammatory Disorders, I: Inflammatory Bowel Disease
- 29. Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies
- 30. Genetics and Genomics of Chronic Inflammatory Disorders, III: Bronchial Asthma
- 31. Genetics and Genomics of Neuro-Psychiatric Diseases, I: Seizure Disorders
- 32. Genetics and Genomics of Neuro-Psychiatric Diseases, II: Multiple Sclerosis
- 33. Genetics and Genomics of Neuro-Psychiatric Diseases, III: The Common Dementias
- 34. Genetics and Genomics of Neuro-Psychiatric Diseases, IV: Schizophrenia and Bipolar Disorder
- 35. Genetics and Genomics of Neuro-Psychiatric Diseases, V: Learning and Behavioral Disorders
- 36. Clinical Cancer Genomics
- 37. Genomics and Infectious Diseases: Susceptibility, Resistance, Response, and Antimicrobial Therapy
- 38. Genomic Perspectives of Clinical Immunology
- 39. Genomic Applications in Clinical Pediatrics
- 40. Genetics and Genomics in Clinical Ophthalmology, I: The Spectrum of Genetic Eye Disease
- 41. Genetics and Genomics in Clinical Ophthalmology, II: Glaucoma
- 42. Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration
- 43. Genomic Applications in Audiological Medicine
- 44. Genetics and Genomics of Skin Diseases I: Atopic Dermatitis and Other Skin Complex Diseases
- 45. Genetics and Genomics of Skin Diseases, II: Genomics of Pigmentation and Skin Cancer
- 46. The Genetic and Genomic Practice of Reproductive Medicine
- 47. Stem Cell Genomics: Developmental Competence
- 48. Genomic Applications in Critical Care Medicine
- 49. Molecularly Targeted Therapy for Mendelian Disorders
- 50. Glossary for Genetic and Genomic Medicine<sup>*</sup>