Treatment of Haemoglobinopathies and Allied Disorders
İÇİNDEKİLERCONTENTS 1. Introduction.......................... 1.1 The haemoglobin molecule................. 1.2 The G6PD molecule.................... 1.3 Geographical distribution of the common haemoglobinopathies and G6PD deficiency...................... 2. Common haemoglobinopathies................. 2.1 Abnormal haemoglobins.................. 2.2 The thalassaemias..................... 3. The common types of G6PD deficiency.............. 3.1 a-type of G6PD deficiency................. 3.2 Mediterranean type of G6PD deficiency............ 3.3 Other common types of severe G6PD deficiency........ 3.4 Haemolytic episodes.................... 4. Laboratory diagnosis of haemoglobinopathies and G6PD deficiency 4.1 Haemoglobinopathies.................... 4.2 G6PD deficiency...................... 4.3 Family studies....................... 4.4 Special situations ..................... 5. Management......................... 5.1 Haemoglobinopathies.................... 5.2 Thalassaemia ...................... 5.3 G6PD deficiency...................... 6. Environmental factors in prognosis................ 6.1 Geographical....................... 6.2 Medical.......................... 6.3 Socio-economic...................... 6.4 Nutritional........................ 6.5 Educational........................ 7. Public health services...................... 7.1 Screening of populations.................. 7.2 The haemoglobinopathy clinic............... . 7.3 Management of blood transfusion units in areas where haemoglobinopathies and/or G6PD deficiency are common...... 8. Genetic counselling....................... 8.1 Retrospective genetic counselling............... 8.2 Population (prospective) counselling............. 8.3 Intra-uterine diagnosis................... 9. Recommendations....................... 9.1 Public health aspects.................... 9.2 Investigative aspects.................... Annex 1. Haemoglobin variants.................. Annex 2. G6PD variants...................... Annex 3. Clinical features of common haemoglobinopathies...... Annex 4. Laboratory tests useful in diagnosis and differential diagnosis of common haemoglobinopathies .............. Annex 5. Clinical trials in sickle-cell disease............. Annex 6. Organization of clinics and recording of clinical data.....  |
