- 1 On being a patient
- 2 Modern medicine: foundations, achievements, and limitations
- 3 Global patterns of disease and medical practice
- 4 Cell biology
- 5 Immunological mechanisms
- 6 Principles of clinical oncology
- 7 Infection
- 8 Sexually transmitted diseases and sexual health
- 9 Chemical and physical injuries and environmental factors and disease
- 10 Clinical pharmacology
- 11 Nutrition
- 12 Metabolic disorders
- 13 Endocrine disorders
- 14 Medical disorders in pregnancy
- 15 Gastroenterological disorders
- 16 Cardiovascular disorders
- 17 Critical care medicine
- 18 Respiratory disorders
- 19 Rheumatological disorders
- 20 Disorders of the skeleton
- 21 Disorders of the kidney and urinary tract
- 22 Disorders of the blood
- 22.1 Introduction
- 22.2 Haemopoietic stem cells
- 22.3 The leukaemias and other bone marrow disorders
- 22.4 The white cells and lymphoproliferative disorders
- 22.5 The red cell
- 22.6 Haemostasis and thrombosis
- 22.6.1 The biology of haemostasis and thrombosis
- 22.6.2 Evaluation of the patient with a bleeding tendency
- 22.6.3 Disorders of platelet number and function
- 22.6.4 Genetic disorders of coagulation
- 22.6.5 Acquired coagulation disorders
- 22.7 The blood in systemic disease
- 22.8 Blood replacement
- 23 Disorders of the skin
- 24 Neurological disorders
- 25 The eye
- 26 Psychiatry and drug related problems
- 27 Forensic medicine
- 28 Sports medicine
- 29 Geratology
- 30 Pain
- 31 Palliative medicine
- 32 Biochemistry in medicine
- 33 Acute medicine
Genetic disorders of coagulation
- Chapter:
- Genetic disorders of coagulation
- Author(s):
Eleanor S. Pollak
and Katherine A. High
- DOI:
- 10.1093/med/9780199204854.003.220604_update_001
Update:
Updated information on gene transfer as a method of treating haemophilia.
Much of what is understood about specific coagulation proteins has emerged from the careful study of hereditary disorders of blood coagulation.
Haemophilia is a familial X-linked disorder due to deficiency of either factor VIII (haemophilia A) or factor IX (haemophilia B), components of the intrinsic enzymatic complex that activates factor X. The severity of the disease correlates with predicted concentrations of activated factor protein, and those with activity levels below 1% are defined as having severe disease....
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- 1 On being a patient
- 2 Modern medicine: foundations, achievements, and limitations
- 3 Global patterns of disease and medical practice
- 4 Cell biology
- 5 Immunological mechanisms
- 6 Principles of clinical oncology
- 7 Infection
- 8 Sexually transmitted diseases and sexual health
- 9 Chemical and physical injuries and environmental factors and disease
- 10 Clinical pharmacology
- 11 Nutrition
- 12 Metabolic disorders
- 13 Endocrine disorders
- 14 Medical disorders in pregnancy
- 15 Gastroenterological disorders
- 16 Cardiovascular disorders
- 17 Critical care medicine
- 18 Respiratory disorders
- 19 Rheumatological disorders
- 20 Disorders of the skeleton
- 21 Disorders of the kidney and urinary tract
- 22 Disorders of the blood
- 22.1 Introduction
- 22.2 Haemopoietic stem cells
- 22.3 The leukaemias and other bone marrow disorders
- 22.4 The white cells and lymphoproliferative disorders
- 22.5 The red cell
- 22.6 Haemostasis and thrombosis
- 22.6.1 The biology of haemostasis and thrombosis
- 22.6.2 Evaluation of the patient with a bleeding tendency
- 22.6.3 Disorders of platelet number and function
- 22.6.4 Genetic disorders of coagulation
- 22.6.5 Acquired coagulation disorders
- 22.7 The blood in systemic disease
- 22.8 Blood replacement
- 23 Disorders of the skin
- 24 Neurological disorders
- 25 The eye
- 26 Psychiatry and drug related problems
- 27 Forensic medicine
- 28 Sports medicine
- 29 Geratology
- 30 Pain
- 31 Palliative medicine
- 32 Biochemistry in medicine
- 33 Acute medicine