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Prevalence of the Beta-S Gene and Sickle Cell Disease in India

Arjunan, Aishwarya (2013) Prevalence of the Beta-S Gene and Sickle Cell Disease in India. Master's Thesis, University of Pittsburgh.

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    Abstract

    Introduction: Sickle Cell Disease (SCD), an inherited disorder of the red blood cells, is a major public health problem. India, with a population of 1.2 billion individuals, is estimated to be home to over 50% of the world’s patients with SCD. While SCD is common among all ethnic groups in India, high prevalence has been reported in three socio-economically disadvantaged ethnic categories: the Scheduled Castes (SC), the Scheduled Tribes (ST), and Other Backward Class (OBC) groups. Both the prevalence of the βs gene and the clinical phenotype of SCD have not been well described in these three population groups. Objective: Our objective was two-fold: to determine the prevalence of the βs gene and to describe the clinical phenotype of SCD in the district of Nagpur, Maharashtra located in Central India. Method: To determine the prevalence of the βs gene, community screening of target populations was conducted over an eight-year time span. To determine the clinical phenotype of SCD, a cohort of 726 patients was followed over a four and half year time period during which all clinical events presented to the hospital were recorded. Results Population Screening: Community wide screening of 35,636 individuals identified 5,437 individuals with sickle cell trait and 1,010 with SCD. The trait prevalence was 13%, 12%, and 3.4% for the SC, ST, and OBC groups respectively. Clinical Phenotype: A total of 726 patients were followed in the comprehensive clinic over a four and a half year time period. Painful crisis and fever were the most common initial presentations and the leading causes of hospitalizations. These rates were also higher when compared to the published data from the Cooperative Study of Sickle Cell Disease. Implications for Public Health: The population screening program uncovered previously undiagnosed cases, and provided detailed information for population based disease counseling, prevention programs and comprehensive care programs. Additionally, we present evidence suggesting that SCD may not have milder manifestations in India and underscore the need for detailed studies of phenotype that can form the basis of public health interventions and mechanistic studies of genetic modifiers of clinical phenotype.


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    Item Type: University of Pittsburgh ETD
    ETD Committee:
    ETD Committee TypeCommittee MemberEmailORCID
    Committee ChairKrishnamurti, Lakshmanankrishnamurtil@upmc.edu
    Committee MemberGettig, Elizabethbgettig@pitt.edu
    Committee MemberTerry, Marthamaterry@pitt.edu
    Title: Prevalence of the Beta-S Gene and Sickle Cell Disease in India
    Status: Published
    Abstract: Introduction: Sickle Cell Disease (SCD), an inherited disorder of the red blood cells, is a major public health problem. India, with a population of 1.2 billion individuals, is estimated to be home to over 50% of the world’s patients with SCD. While SCD is common among all ethnic groups in India, high prevalence has been reported in three socio-economically disadvantaged ethnic categories: the Scheduled Castes (SC), the Scheduled Tribes (ST), and Other Backward Class (OBC) groups. Both the prevalence of the βs gene and the clinical phenotype of SCD have not been well described in these three population groups. Objective: Our objective was two-fold: to determine the prevalence of the βs gene and to describe the clinical phenotype of SCD in the district of Nagpur, Maharashtra located in Central India. Method: To determine the prevalence of the βs gene, community screening of target populations was conducted over an eight-year time span. To determine the clinical phenotype of SCD, a cohort of 726 patients was followed over a four and half year time period during which all clinical events presented to the hospital were recorded. Results Population Screening: Community wide screening of 35,636 individuals identified 5,437 individuals with sickle cell trait and 1,010 with SCD. The trait prevalence was 13%, 12%, and 3.4% for the SC, ST, and OBC groups respectively. Clinical Phenotype: A total of 726 patients were followed in the comprehensive clinic over a four and a half year time period. Painful crisis and fever were the most common initial presentations and the leading causes of hospitalizations. These rates were also higher when compared to the published data from the Cooperative Study of Sickle Cell Disease. Implications for Public Health: The population screening program uncovered previously undiagnosed cases, and provided detailed information for population based disease counseling, prevention programs and comprehensive care programs. Additionally, we present evidence suggesting that SCD may not have milder manifestations in India and underscore the need for detailed studies of phenotype that can form the basis of public health interventions and mechanistic studies of genetic modifiers of clinical phenotype.
    Date: 27 June 2013
    Date Type: Publication
    Defense Date: 19 February 2013
    Approval Date: 27 June 2013
    Submission Date: 11 April 2013
    Release Date: 27 June 2013
    Access Restriction: No restriction; The work is available for access worldwide immediately.
    Patent pending: No
    Number of Pages: 52
    Institution: University of Pittsburgh
    Thesis Type: Master's Thesis
    Refereed: Yes
    Degree: MS - Master of Science
    Uncontrolled Keywords: Sickle Cell Disease, Clinical Phenotype, Beta-S Gene
    Schools and Programs: Graduate School of Public Health > Human Genetics
    Date Deposited: 27 Jun 2013 14:34
    Last Modified: 28 Jun 2013 01:15

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