Distribution of Hemoglobinopathy Disorders in Saudi Arabia Based on Data from the Premarital Screening and Genetic Counseling Program, 2011-2015 Open Access

Alsaeed, Eman Saud (2016)

Permanent URL: https://etd.library.emory.edu/concern/etds/b8515n990?locale=en
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Abstract

Distribution of Hemoglobinopathy Disorders in Saudi Arabia Based on Data from the Premarital Screening and Genetic Counseling Program, 2011-2015

By Eman Saud Alsaeed

PURPOSE: The prevalence rates of ß-thalassemia (β-thal) and Sickle Cell Disease (SCD) in Saudi Arabia are considered one of the highest compared to surrounding countries in the Middle East (0.05% and 4.50% respectively). In 2004, Saudi Arabia introduced a mandatory premarital screening and genetic counseling program (PMSGC) as a preventive program for these genetic diseases. We analyzed data provided by this program from 2011-2015 to assess recent trends in β-thal and SCD and their geographic distribution in Saudi Arabia.

METHODS: Our secondary data analysis included 1,230,582 individuals. The de-identified database was obtained from the Department of Genetics of the Saudi Ministry of Health (MoH) which houses the ongoing premarital test program, and included all couples attending the program from February 2011 to December 2015. The status of β-thal and SCD was categorized as positive, negative, and trait forms.

RESULTS: During the 5-year study period, the overall prevalence rate per 1000 population for β-thal was 13.6 (12.9 for the trait and 0.7 for the disease). The prevalence rate for SCD was 49.6 (45.8 for the trait and 3.8 for the disease). Rates for β-thal were found to decrease from 24.2 in 2011, to 12 in 2015. However, SCD rates remained rather constant and ranged from 42.3 in 2011 to 49.8 in 2015. The highest rate for both β-thal and SCD was observed in the Eastern region and Jazan with different variation between disease and carrier statuses.

CONCLUSION: The overall rate for β-thal and SCD has shown a decreasing trend over the 5-year study period. This reflects major accomplishment of the premarital screening and genetic counseling program. We recommend further improvement in the preventive measures in the high-risk regions, and enhanced community awareness to provide the highest rate reduction for these disorders.

Keywords: Hemoglobinopathy, thalassemia, sickle cell disease

Table of Contents

Table of Contents

Chapter 1. Introduction.............................................................................................................. 1

Overview on Hemoglobinopathy Disorders............................................................................. 1

Status of Hemoglobinopathy Disorders in Saudi Arabia......................................................... 2

Study Significance...................................................................................................................... 3

Research Questions.................................................................................................................... 4

Chapter 2. Literature Review.................................................................................................... 5

Hemoglobinopathy Disorders................................................................................................... 5

Thalassemia............................................................................................................................................................................................. 5

Sickle Cell Diseases.............................................................................................................................................................................. 7

Global burden of hemoglobinopathy disorders....................................................................... 8

Factors influencing the increased frequency of hemoglobinopathy disorders..................... 9

Hemoglobinopathy disorders in Saudi Arabia....................................................................... 11

Prevention programs for hemoglobinopathy disorders....................................................... 13

Chapter 3. Manuscript.............................................................................................................. 17

Introduction............................................................................................................................. 18

Methods.................................................................................................................................... 19

Population.............................................................................................................................................................................................. 19

Premarital screening and genetic counseling program............................................................................................ 19

Data Source............................................................................................................................................................................................ 20

Ethical Considerations................................................................................................................................................................... 21

Study Variables................................................................................................................................................................................... 21

Data Management.............................................................................................................................................................................. 22

Statistical Analysis........................................................................................................................................................................... 24

Results...................................................................................................................................... 24

Population characteristics.......................................................................................................................................................... 24

Prevalence rate, time trends and distribution of β-thal........................................................................................... 25

Prevalence, time trends and distribution of SCD.......................................................................................................... 25

Discussion................................................................................................................................. 26

Chapter 4. Conclusion and Recommendations................................................................... 29

Reference.................................................................................................................................... 31

Figures and Tables................................................................................................................... 34

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