Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.

Contents

• DEDICATED TO PROFESSOR RENZO GALANELLO
• AUTHORS & EDITORS
• CONTRIBUTORS
• PREFACE
• FOREWORD
• THE PUBLISHERS-THALASSAEMIA INTERNATIONAL FEDERATION (TIF)
• 1. WHY PREVENTION
  Michael Angastiniotis.
  • 1.1. THE THALASSAEMIA SYNDROMES
  • 1.2. THE SICKLE CELL SYNDROMES
  • 1.3. THE POSSIBILITY OF PREVENTION IN HAEMOGLOBIN DISORDERS
  • 1.4. THE ELEMENTS OF A PREVENTION POLICY
  • REFERENCES
• 2. EPIDEMIOLOGY OF HAEMOGLOBINOPATHIES
  Michael Angastiniotis.
  • 2.1. EPIDEMIOLOGY AND SERVICE DEVELOPMENT
  • 2.2. EPIDEMIOLOGICAL INFORMATION: METHODOLOGY
  • 2.3. CALCULATING THE EXPECTED NUMBER OF HOMOZYGOTE BIRTHS
  • 2.4. THE REQUIREMENTS FOR HEALTH PLANNING – THE SERVICE INDICATORS
  • 2.5. NEONATAL SCREENING
  • 2.6. CHANGING EPIDEMIOLOGY - THE EFFECT OF MIGRATIONS
  • 2.7. OUTCOME STUDIES
  • 2.8. THE CURRENT SITUATION
  • REFERENCES
• 3. HEALTH EDUCATION
  Androulla Eleftheriou.
• 4. SCREENING AND DIAGNOSIS FOR HAEMOGLOBIN DISORDERS
  Renzo Galanello.
  • 4.1. SCREENING STRATEGIES
  • 4.2. WHEN TO SCREEN
  • 4.3. CHARACTERISTICS OF THE β AND δβ-THALASSAEMIAS
  • 4.4. CHARACTERISTICS OF α-THALASSAEMIAS
  • 4.5. HbS SYNDROMES
  • 4.6. HbE SYNDROMES
  • 4.7. GENERAL APPROACH FOR CARRIER IDENTIFICATION
  • 4.8. PROBLEMS IN SCREENING FOR THE HAEMOGLOBINOPATHIES
  • REFERENCES
• 5. GENETIC COUNSELLING
  Mary Petrou.
  • 5.1. COMPLEXITIES IN GENETIC COUNSELLING
  • 5.2. ETHICS AND RELIGION IN GENETIC COUNSELLING
  • 5.3. OPTIONS AVAILABLE TO PEOPLE WITH A GENETIC REPRODUCTIVE RISK
  • 5.4. PREMARITAL SCREENING
  • 5.5. PRENATAL DIAGNOSIS
  • 5.6. CONSANGUINEOUS MARRIAGE
  • 5.7. GENERAL POINTS AND CONCLUSIONS
  • REFERENCES
• 6. FOETAL SAMPLING FOR THE PRENATAL MANAGEMENT OF HAEMOGLOBINOPATHIES
  Mary Petrou and Eric Jauniaux.
  • 6.1. CHORIONIC VILLUS SAMPLING (CVS)
  • 6.2. AMNIOTIC FLUID SAMPLING
  • 6.3. FOETAL BLOOD SAMPLING (FBS)
  • 6.4. TECHNICAL CONSIDERATIONS
  • REFERENCES
• 7. CONVENTIONAL PRENATAL DIAGNOSIS
  John Old.
  • 7.1. WHICH MOLECULAR DIAGNOSTIC TECHNIQUES ARE BEST FOR PRENATAL DIAGNOSIS?
  • 7.2. HAEMOGLOBIN DISORDERS REquIRING PRENATAL DIAGNOSIS
  • 7.3. GENOTYPE-PHENOTYPE PREDICTIONS
  • 7.4. SOURCES OF DNA
  • 7.5. DISEASE-SPECIFIC STRATEGIES
  • 7.6. GUIDELINES FOR BEST PRACTICE
  • REFERENCES
• 8. NEW DEVELOPMENTS IN PRENATAL DIAGNOSIS
  Joanne Traeger-Synodinos.
  • 8.1. PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
  • 8.2. PGD – EXAMPLES FROM THE HAEMOGLOBINOPATHIES
  • 8.2. NON-INVASIVE PRENATAL DIAGNOSIS (NIPD)
  • 8.4. NIPD – EXAMPLES FROM THE HAEMOGLOBINOPATHIES
  • 8.5. FUTURE DEVELOPMENTS IN PGD AND NIPD
  • REFERENCES:
• 9. SURVEILLANCE
  Mary Petrou and Bernadette Modell.
  • 9.1. SOME DEFINITIONS
  • 9.2. SURVEILLANCE OF SCREENING FOR HAEMOGLOBIN DISORDERS - BASIC PRINCIPLES
  • 9.3. A REGISTER OF PRENATAL DIAGNOSES
  • 9.4. A PATIENT REGISTER
  • 9.5. A COMBINED “DIAGNOSIS” REGISTER
  • 9.6. EXAMPLES OF THE USE OF REGISTERS FOR NATIONAL SURVEILLANCE
  • 9.7. THE USE OF REGISTERS FOR NATIONAL AUDIT
  • 9.8. THE NEED FOR EARLY RISK DETECTION AND EARLY PRENATAL DIAGNOSIS
  • REFERENCES
• 10. NEWBORN SCREENING FOR HAEMOGLOBINOPATHIES
  Piero Giordano.
  • 10.1. INTRODUCTION
  • 10.2. THE HB FRACTIONS AS A BASIS FOR NEWBORN SCREENING
  • 10.3. THE TECHNOLOGIES FOR NEWBORN SCREENING
  • 10.4. IDENTIFICATION OF THE MAJOR HB FRACTIONS ON HPLC & CE
  • 10.5. INTERPRETATION OF THE RESULTS
  • 10.6. THE STEPS FOLLOWING PUTATIVE IDENTIFICATION ON NEWBORN SCREENING
  • 10.7. DETECTING AND REPORTING CARRIERS FOUND DURING NEWBORN SCREENING
  • 10.8. WHAT CAN GO WRONG WITH NEWBORN SCREENING?
  • 10.9. CONCLUSIONS
  • REFERENCES
• ANNEXES
  • 1. GLOBAL EPIDEMIOLOGY TABLES
  • 2. BETA THALASSAEMIA MUTATION DATA TABLES
  • 3. BETA THALASSAEMIA MUTATIONS: FREQUENCY AND DISTRIBUTION TABLE
  • 4. ALPHA THALASSAEMIA MUTATION DATA TABLES
  • 5. ALPHA THALASSAEMIA MUTATIONS: FREQUENCY AND DISTRIBUTION TABLES
  • 6. DELTA THALASSAEMIA MUTATION TABLE
  • 7. DELTA BETA THALASSAEMIA AND HPFH MUTATION DATA TABLE
  • 8. NON-DELETIONAL HPFH MUTATION DATA TABLE
• REFERENCES