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Genetics Resources Frequencies of Hemoglobin Variants

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Image: “Frequencies of Hemoglobin Variants” text book by Frank Livingstone
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Author:                                             Level:

Frank B Livingstone                                      Undergraduate or postgraduate healthcare and medicine.

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Frank B Livingstone (1985) Frequencies of Hemoglobin Variants: Thalassemia, The Glucose-6-Phosphate Dehydrogenase Deficiency, G6PD Variants, and Ovalocytosis in Human Populations (New York: Oxford University Press). ISBN: 0-19-503634-4.

In this work, the anthropologist Frank B Livingstone demonstrated that there are clines (gradients) of gene frequencies between populations measured at different territorial points at particular moments in time (Livingstone, 1985). For a sociologist, the importance of Livingstone’s work is that in compiling such a global compendium, Livingstone retains the awareness that there is no primordial correspondence between genes in bodies and attachment to a particular territory (see Carter and Dyson, 2011). This is because Livingstone’s classic work (Livingstone, 1958a&b) outlines how sickle cell gene frequencies in populations changed as a result of social practices (slash-and-burn clearances of forested areas; the spread of yam cultivation; the denser concentration of human populations; the compacting of soil through agriculture: all leading to the creation of an ecological niche favouring reproduction of the malaria-carrying mosquitoes).

For the public health specialist, Livingstone’s work illustrates the importance of micro-mapping in public health surveillance because gene frequencies can vary quite substantially across relatively short geographical distances. This is important information for a nation-state, or for a particular administrative region within a nation-state, that needs to be convinced, in health economics terms, that provision of screening and treatment services for sickle cell and thalassaemia should be funded by government. Since sickle cell disease and beta-thalassaemia major are genetic conditions it is often assumed, wrongly, that they cannot therefore be public health issues (but see Atrash and Parker, 2010; Ebrahim et al, 2010). To sample a few thousand people, say for sickle cell trait in a sub-Saharan African country, and to extrapolate carrier rates for a whole country would be inappropriate. Livingstone’s work ascribes carrier prevalence to particular populations, at particular moments, in particular places, sampled in particular ways. As such Livingstone’s work reminds us of the ongoing need to improve the quality of epidemiological data we have on the haemoglobinopathies  in order for countries currently less well resourced to plan the response of their health systems to sickle cell disease and to the thalassaemias.

References

Atrash H, Parker CS. (2010) The public health response to blood disorders,  American Journal of Preventive Medicine 38(4S):S451-S455.

Carter, R and Dyson, SM (2011) Territory, ancestry and descent: the politics of sickle cell disease,  Sociology 45(6):963-976.

Ebrahim SH, Khoja, TAM, Elachola, H, Atrash, HK, Memish, Z, Johnson, A. (2010) Children who come and go: The state of sickle cell disease in resource-poor countries, American Journal of Preventive Medicine 38:(4S) S568-S570.

Livingstone, FB (1958a) Anthropological implications of sickle cell gene distribution in West Africa, American Anthropologist 60 (3): 533-562.

Livingstone, FB (1958b) The distribution of the sickle cell gene in Liberia, American Journal of Human Genetics 10 (1): 33-41.

Simon Dyson, February 2012 United Kingdom

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Sickle Cell and Thalassaemia Teaching Resources

Clearly knowledge of the genetics of sickle cell is a vital part of the curriculum and teaching resources available for health professionals in universities. But how can a social scientific approach to sickle cell be of use in the education of health professionals within academia? One example is through my work on the relationship between ethnicity and antenatal screening for sickle cell. At De Montfort University, the work on Ethnicity and Screening for Sickle Cell and Thalassaemia (Dyson, 2005) informs the midwifery curriculum. Sociological research on the complexities of the relationship between (1)socially constructed legal-bureaucratic Census categories on ethnic origin and (2) actual genomic variation in carrying genes encoding sickle cell and thalassaemia (Dyson, 2005; Dyson et al, 2006; Dyson et al, 2007a&b; Dyson, 2007) has helped prepare midwifery students for their role in operating an ethnic/ family origins questionnaire to pregnant mothers as a first screening question that helps target those women to whom a laboratory screen for sickle cell is then offered.

Teaching Resources

Ethnicity and Screening for Sickle Cell and Thalassaemia USA LINK

 

This sociological approach to sickle cell is also used in education on the multi-disciplinary degree in Health Studies. The fact that sickle cell illustrates the myth of distinct biological ‘races’ helps students to meet the module learning outcome “To define and critically analyse concepts of ‘race’, racism and ethnicity and their relationship to health”. The fact that it is nonetheless statistically associated (though to a declining extent) with socially defined black and minority ethnic groups in the UK aids students in meeting the learning outcome “To demonstrate an in-depth understanding of the ethnic patterning of health and illness and the impact of ethnicity on the delivery of health care”. The manner in which the research evaluates contested screening policies of universal screening versus selective screening based on targeting screening at particular ethnic groups helps students to achieve a third module learning outcome, namely  “To critically appraise current policy initiatives in the area of ethnicity and health”.
This in turn contributes to the programme learning outcomes for Health Studies, especially those concerned with “examining themes and dilemmas in contemporary British health and health care”; “drawing upon a range of theoretical and conceptual resources to evaluate both academic analysis of health, illness and health care and practical interventions in health policy and health care” and “applying theory to practical aspects of health care provision and organisation”.  This subject matter is forming the basis of teaching resources that we are making available through the SCOOTER project.

References

Dyson, SM (2005) Ethnicity and Screening for Sickle Cell/Thalassaemia Oxford: Elsevier Churchill Livingstone

Dyson, SM; Culley, LA; Gill, C; Hubbard, S; Kennefick, A; Morris, P; Rees, D; Sutton, F; Squire, P (2006) Ethnicity Questions and Antenatal Screening for Sickle Cell/Thalassaemia [EQUANS] in England: A randomized controlled trial of two questionnaires. Ethnicity and Health 11 (2): 169-189.

Dyson, SM; Chambers, K; Gawler, S; Hubbard, S; Jivanji, V; Sutton, F; and Squire, P (2007a) Lessons for Intermediate and Low Prevalence Areas in England from the Ethnicity Questions and Antenatal Screening for Sickle Cell/Thalassaemia [EQUANS] Study. Diversity in Health and Social Care 4 (2): 123-35. [ISSN 1743-1913]

Dyson, SM; Cochran, F; Culley, LA; Dyson, SE, Kennefick, A; Kirkham, M; Morris, P; Sutton, F; and Squire, P (2007b) Observation and Interview Findings from the Ethnicity Questions and Antenatal Screening for Sickle Cell/Thalassaemia [EQUANS] Study. Critical Public Health 17 (1): 31-43.

Dyson, SM (2007) Genetic traits as pollution: ‘White English’ carriers of sickle cell or thalassaemia. In Kirkham, M (Eds) Exploring the Dirty Side of Women’s Health London: Routledge, 270-283.

Article teaching resources by Professor Simon Dyson

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