The Social Implications of Thalassaemia 1 Among Muslims Of
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I THE SOCIAL IMPLICATIONS OF THALASSAEMIA 1 AMONG MUSLIMS OF PAKISTANI ORIGIN I-N EN&LA-D-FAMILY EXPERIENCE AND SERVICE DELIVERY by Aamra Rashid Darr A thesis submitted for the degree of Doctor of Philosophy in the University of London. University faculty of Science Field of study: Genetics University College University of London. 2 ABSTRACT This thesis is about the experience of Muslim British Pakistani families coping with thalassaemia (a chronic, inherited blood disorder) and the implications for service delivery. Its central concern is to illustrate that simplistic and culturally-biased assumptions are an unsatisfactory base on which to devise health service delivery for minority populations, and that with careful study it is possible to deliver culturally sensitive and appropriate services. The thesis is written in four parts. The first part contains the research methods and the clinical aspects of thalassaemia. It also provides an introduction to the families in the study. The British Pakistani population is considered in the context of migration to Britain, which has created a plural society requiring adaptations to services to meet the diverse health needs of the different ethnic minorities. The second part deals with the socio-economic and cultural background of British Pakistanis in Pakistan: this crucial to an understanding of their present situation. Family dynamics, marriage patterns and decision-making processes are explored, as is the central role of religion and kinship networks in the lives of British Pakistanis. It also examines their settlement process and present living conditions and illustrates how the social structures prevalent in Pakistan 3 have been re-established in England, albeit in a modified form. The third part documents, using case studies, the experiences of British Pakistani families with thalassaemic children. These are analysed to highlight deficiencies in health service delivery and areas where cultural misconceptions exist. These areas require attention to provide an effective genetic counselling service for this population. The final part examines the social and clinical implications of consanguineous marriage. It gives the results of a study showing increased frequency of consanguineous marriage among British Pakistanis than among Pakistanis in Pakistan. It then illustrates how kinship networks within communities practising this marriage pattern provide an opportunity to offer a genetic counselling service in a unique way, by making positive use of the practice. This proposed approach applies not only to thalassaemia but also to other inherited diseases. 4 CONTENTS Abstract 2 List of contents 4 Index to figures 8 Index to tables 10 Index to maps 12 Acknowledgments 13 Preface 14 Confidentiality 15 Statements of health professionals about 16 British Pakistanis PART ONE: INTRODUCTION 17 Chapter 1. RESEARCH BACKGROUND AND METHODS 18 Origin of study 18 Research methods 23 Chapter 2. GENETIC COUNSELLING 42 Chapter 3. THE CLINICAL ASPECTS OF THALASSAEMIA 44 The thalassaemias 44 Thalassaemia intermedia and other forms 44 of thalassaemia Thalassaemia trait 46 Genetic inheritance 46 Autosomal recessive inheritance 49 Biochemical basis of thalassaemia 49 Carrier detection 52 The implications of having thalassaemia 52 trait Reproductive options for a couple 54 carrying thalassaemia trait Thalassaemia major without treatment 54 Treatment of thalassaemia 56 Bone marrow transplantation 59 Growth and puberty 61 Main causes of death 62 The future 63 Prevention of thalassaemia 64 Fetal blood sampling 64 Chorionic villus sampling 66 5 World distribution of thalassaemia 70 Explanation for prevalence of 70 thalassaemia trait Incidence of thalassaemia trait among 75 populations of diverse origins in Britain 81 Chapter 4. FAMILIES IN THE STUDY Introduction to eleven intensively 84 studied families 90 Chapter 5. MIGRATION TO BRITAIN Pakistani migration to Britain 94 PART TWO: SOCIAL BACKGROUND 103 105 Chapter 6. PAKISTAN Azadh Kashmir 108 110 Mirpur District The impact of remittances 114 Chapter 7. SOCIAL ORGANISATION 117 The household 117 120 The kinship system The influence of kinship 123 Chapter 8. SOCIAL INTERACTION 128 Chapter 9. MARRIAGE 133 Chapter 10. ISLAM 136 145 Mosques and imams of mosques Islam and termination of pregnancy 146 148 Chapter 11. THE BRITISH PAKISTANI POPULATION Population stucture 148 149 Geographical distribution British Pakistani neighbourhoods 150 Women' s employment 153 Men's employment 156 Housing 161 CONCLUSION 165 6 PART THREE: FAMILY EXPERIENCE OF THALASSAEMIA 168 Chapter 12. THE FAMILY STUDIES 169 Key to family trees 172 Intensively studied families 173 Partially studied families 230 Families with thalassaemic children in 240 another county in England Conclusion: Family stiidies 241 Chapter 13. THEMES AND DISCUSSION ARISING FROM THE 242 FAMILY STUDIES Community knowledge of thalassaemia 242 Understanding of thalassaemia 242 Isolation of families 242 The lack of stigma 244 Fatalism 245 Religious beliefs and their application 247 Misinformation 247 Delay in diagnosis 250 The role of the G.P. 251 Contraception 252 Prenatal diagnosis 254 CONCLUSION 261 PART FOUR: CONSANGUINITY-SOCIAL AND HEALTH IMPLICATIONS 264 Chapter 14. CONSANGUINEOUS MARRIAGE AMONG BRITISH 265 PAKISTANIS Consanguineous marriage 265 Patterns of consanguineous relationships 266 Prevalence of consanguineous marriage 266 The frequency of consanguineous marriage 270 among British Pakistanis Conclusions of consanguinity study 276 7 Chapter 15. THE SOCIAL IMPLICATIONS OF CONSANGUINEOUS 278 MARRIAGE AMONG BRITISH PAKISTANIS Popular preconceptions of British 282 Pakistani Muslims in British society Discussion 283 Attitudes towards consanguineous 284 marriage Adaptation of marriage patterns 288 Chapter 16. THE CLINICAL IMPLICATIONS OF 290 CONSANGUINEOUS MARRIAGE Impact of consanguinity on the incidence 291 of commmon recessive disorders Impact of consanguinity on rare 292 recessive disorders The differing patterns of manifestation 295 of inherited diseases CONCLUSION 297 A possible approach to genetic counselling among the British Pakistani population FINAL CONCLUSION 302 REFERENCES 306 APPENDIX 1. 311 The distribution of British Pakistanis in Britain 8 INDEX TO FIGURES Fig. 1.1 Human chromosomes 47 Fig. 1.2 Autosomal recessive inheritance of 49 thalassaemia Fig. 1.3 Normal a. and 3 chain synthesis 51 Fig. 1.4 a and J chain synthesis in thalassaemia major 51 trait Fig. 1.5 a and 13 chain synthesis in thalassaemia 51 major Fig. 1.6 Risks of passing on thalassaemia trait when one 53 partner has normal blood and the other has thalassaemia trait Fig. 1.7 Risks connected to a pregnancy when both 53 partners have thalassaemia trait Fig. 1.8 Portable syringe driver 57 Fig. 1.9 Survival in thalassaemia in relation to 58 treatment Fig. 1.10 18 week fetus and membranes showing fetal 65 blood sampling Fig. 1.11 Transcervical chorionoc villus sampling 68 Fig. 1.12 Transabdominal chorionoc villus sampling 69 Fig. 1.13 Families in the study 83 Fig. 2.1 Types of household 117 Fig. 2.2 Joint households in Brii.tain 119 Fig. 2.3 Social networks 124 Fig. 2.4 Age distribution of British Pakistanis 149 Fig. 2.5 The typical daily routine of a night shift 159 worker Fig. 3.1 Distances travelled by families to attend 243 thalassaemia support group meetings in city Z 9 Fig. 4.1 A close consanguineous marriage 265 Fig. 4.2 A distant consanguineous marriage 265 Fig. 4.3 Examples of consanguineous relationships 267 Fig. 4.4 Family tree of patriachs, Abraham, Isaac 269 and Jacob Fig. 4.5 Family tree of a British Pakistani family 271 transmitting both thalassaemia and cystic fibrosis Fig. 4.6 Age distribution of 100 British Pakistani 272 women interviewed in the postnatal wards Fig. 4.7 Intermarriage among three families 285 Fig. 4.8 Intermarriage in one family 285 Fig. 4.9 Relationship between heterozygote prevalence 292 and homozygote birth Fig. 4.10 The manifestation of a recessively inherited 295 in a population not practising first cousin marriage Fig. 4.11 The manifestation of a recessively inherited 295 disorder in a population practising first cousin marriage Fig. 4.12 Model showing possible networks of information 298 and support formed through genetic counselling and support groups Fig. 4.13 Proposed organisation of a community genetics 305 service 10 INDEX TO TABLES Table 1.1 Cause of death from thalassaemia in Britain 62 Table 1.2 Global numbers of carriers of major 72 haemoglobinopathies Table 1.3 Global annual births of infants with major 73 haemoglobinopathies Table 1.4 Approximate incidence of haemoglobiopathies in 78 Britain by ethnic origin Table 1.5 Thalassaemia major births in Britain from 1945 79 to 1979 Table 1.6 Net immigration from India, Pakistan and West 92 Indies between 1955 and 1968 Table 1.7 Main reasons for coming to Britain of 103 97 British Pakistani men Table 1.8 Pakistani sex ratio between 1961 and 1971 99 Table 2.1 Persons resident in private households with 148 the head of household born in Pakistan Table 2.2 Economic activity of women by ethnic origin 154 Table 2.3 Socio-economic distribution of economically 154 active British Pakistani males and females Table 2.4 Economic activity of all women in the labour 155 market by age and ethnic group Table 2.5 Job levels of men: all employees by ethnic 157 origin Table 2.6 Dwelling type by ethnic origin 162 Table 2.7 Amenities by ethnic origin 163 Table 3.1 Estimates of acceptability of prenatal 170 diagnosis to counselled couples of different ethnic origins