Explorations in regime change: b-Thalassaemia in addition to the interplay



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Explorations in regime change: b-Thalassaemia in addition to the interplay

College for Creative Studies, US has reference to this Academic Journal, Explorations in regime change: b-Thalassaemia in addition to the interplay of technological change & social norms. Zosia Bornik & Hadi Dowlatabadi University of British Columbia alongside thanks to: Sue Cox, Peter Danielson, Ed Levy in addition to Bernadette Modell Overview Objective of this research Definitional issues. Domain information. Findings. Conclusions/more Objective At UBC: Study democratic issues related so that applied genomics. At CMU: To explore features of regime change. Synthesis: What might drive shifts in social norms?

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Social Norms As a noun: It describes how a peer group shares specific values in addition to hence chooses among a set of options. As a verb: It is used as an approach so that risk communication in addition to intervention. It has been successfully employed so that address excessive drinking among college students? Recent History: Based on research by Alan Berkowitz in addition to H. Wesley Perkins working at Hobart in addition to William Smith Colleges. A two-level model of behaviour Norm based heuristics: ?There are the values we hold? Deliberated decision: ?I know what is valued in addition to estimate the benefits of this so that outweigh its costs ?? The question: What makes the higher level of decision-making be revised? Changing circumstance: Social Economic Technologic ?

An example: Thalassaemia Thalassaemia, is an inherited condition where the genes controlling haemoglobin production are affected. Each hemoglobin molecule contains four subunit proteins (2xa in addition to 2xb). Hemoglobin properly binds in addition to releases oxygen only when two alpha subunits are connected so that two beta subunits. A pair of genes located on chromosome #16 controls the production of the alpha subunits of hemoglobin. A single gene located on chromosome #11 controls the production of the hemoglobin beta subunit. Its in the genes b-globin genes a-globin genes Chromosome 11 Chromosome 16 Hemoglobin Protein b1 b2 a1 a3 a2 a4 b-Thalassaemia When the b-globulin genes (or their neighbours) are defective or absent, the patient suffers from b-Thalassaemia of different severities. Minor: where haemoglobin production is slightly affected Intermedia: ? Major: where both genes are affected leading so that severe anaemia. Patients alongside b-Thalassaemia major need: chronic blood transfusions AND Chelation therapy (to address iron over-load)

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Clinical intervention Diagnose anaemia Test in consideration of b-trait using haemoglobin electrophoresis Blood transfusions Iron-Chelation therapy ?2 units of blood/mo. Liver, heart & other medical problems ?15 days/mo. of Chelation therapy Life expectancy: ~ 60yrs Cost: CDN$1-2 M Source: Zeuner et al, 1999 Social intervention Identify potential carriers Give them genetic counselling Bring pressure so that avoid pregnancy Revised norms on procreation Cost: CDN$ 6-100/cap Source: Zeuner et al, 1999 Genomic interventions Test the genes: Pre-natal Give genetic counselling Offer termination of pregnancy Revised norms on abortion Cost: CDN$ 150-1000/test Test the genes: Pre-implantation Give genetic counselling Try in-vitro fertilization again Revised norms on eugenics Cost: CDN$ 4000-5000/test Sources: Verma 2003, Karczeksi 2003

The Thalassaemia Belt 2-18% of the population consists of carriers (WHO, 1994) includes Mediterranean Region, Middle East, Indian Subcontinent, in addition to Far East Population movements have led so that dissemination of the gene? á-Thal now widespread in Europe, Americas in addition to Australia. In 2002: ~ 240 million healthy carriers worldwide. ~ 200,000 á-Thal major births per year (Cao et al, 2002). Fall in Thalassaemia Major alongside screening Source: Modell The choices made in Cyprus 4% chose a different marriage partner. 20% chose a smaller final family size. 76% had selective abortion. Source: Modell

Fall in Thalassaemia Major Births Source: Modell Uptake of pre-natal diagnosis by ethnic group (UK) Source: Modell High infant mortality Diagnosis Transfusion services Technological Change Desferri- oxamine Genetic screening Improve infants survival Improve child survival Some get blood transfusions Control health spending Some get Iron Chelation therapy Revise social norms Most are not born Social Change Typically 150/1000 IM drops so that ~ 40/1000 of which 17% are á-Thal major! IM drops by another ~7/1000

Why was Cyprus so successful? Cyprus: Genetically homogeneous population 2-3 mutations. High prevalence rate 14% carrier rate. Broad public engagement through church, schools in addition to community. Elsewhere: Genetically heterogeneous (e.g., >23 mutations in Iran). Lower prevalence rate (and priority). Dominated by other concerns/norms. Conclusions When pressure is sufficiently high norms can shift (i.e., Cyprus, Italy, Iran). Perhaps such shifts are more readily accepted because they also address other objectives. Pressure so that ?preserve norms? (itself a norm at a higher level) trumps where population is heterogeneous(i.e., UK). Clinical Intervention costs from Zeuner et al, 1999 Average life expectancy = 63 years Total lifetime treatment costs in consideration of B-thal major = 490,000 British pounds = 123,000 at a 6% discount rate (includes diagnosis, blood transfusion, outpatient visits, costs assoc w/ complications) For costs incurred over different life stages, see Table 33, p.68 Social Intervention costs from Zeuner et al, 1999 Total antenatal screening programme costs per 10,000 population group = 33,869 ? 800,060 British pounds (see CB analysis in addition to Table 55, p. 90) (includes carrier screening, counseling, pre-natal Diagnosis, in addition to abortion) Genomic Intervention costs Cost in consideration of Pre-natal Diagnosis depends on country India = 150$ Canadian per case (Verma, 2003) USA = 1000$ Canadian per case (Karczeksi, 2003) Predicted costs in consideration of Pre-implantation Genetic Diagnosis USA = at least 4000-5000$ Canadian per case (Karczeksi, 2003)

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