Inherited Blood Clotting Disorders
İÇİNDEKİLERCONTENTS 1. Introduction 2. General considerations on blood clotting disorders............ 2.1 Physiology and biochemistry of blood coagulation.......... 2.2 Blood coagulation factors..................... 2.3 Genetic basis of inherited disorders of clotting............ 2.4 Population genetics of haemophilia A and haemophilia B....... 2.4.1 Frequency at birth, and prevalence............. 2.4.2 Mutation rates...................... 2.4.3 Sporadic cases...................... 2.4.4 Relaxation of selection for haemophilia A.......... 3. Clinical aspects of blood clotting disorders and their diagnosis....... 3.1 Clinical expression........................ 3.2 Clinical expression in relation to the plasma concentration of clotting factors............................. 3.3 Laboratory diagnosis....................... 3.3.1 Laboratory procedures in the diagnosis of clotting disorders . . 3.3.2 Laboratory tests in the diagnosis of clotting disorders..... 3.3.3 Test systems using added thromboplastic substances...... 3.3.4 Test systems that do not use added thromboplastic substances . 3.3.5 The specific diagnosis of single-factor deficiencies....... 3.3.6 The procedure for diagnosis in the laboratory......... 4. Treatment and management of patients................. 4.1 Preparation of materials for treating patients with coagulation defects 4.2 Specific concentrates of coagulation factors............. 4.3 Processing of the components of blood............... 4.3.1 Techniques of preparation................. 4.3.2 Preservation of blood products............... 4.3.3 Organization of production of clotting-factor preparations . . . 4.4 Treatment of patients with coagulation defects............ 4.5 The preparation of patients for surgery............... 4.6 Dental surgery.......................... 4.7 Haemarthroses and other crippling lesions.............. 4.8 Prophylaxis and home treatment of haemophilia A and haemophilia B . 4.9 Complications of specific therapy in haemophilia A and haemophilia B . 4.10 Treatment of patients with coagulation disorders, using methods other than specific factor therapy.................... 5. The patient in the family and in society................. 5.1 Infancy and childhood...................... 5.2 Adolescence........................... 5.3 Adulthood........................... 5.4 Special schools..........................6. The carrier state and its detection 6.1 Biological basis of carrier detection 6.2 Present state of carrier detection 6.2.1 X-linked conditions 6.2.2 Autosomal recessive conditions 6.2.3 Immunological methods of carrier detection 7. Genetic counselling and preventive measures 7.1 Family history 7.2 Autosomal inheritance 7.3 X-linked recessive inheritance 7.4 Intrauterine diagnosis 8. Voluntary organizations for the control of haemophilia 9. Recommendations Annex. Use of Bayes' theorem to calculate the probability of heterozygosity for haemophilia ...........................  |
