Genetic Blood Disorders Survey in the Sultanate of Oman
Table of contents 1. Declaration 2. Introduction 3. Aims and Objectives 4. Literature review 5. Methodology 6. Results 7. Discussion 8. Conclusion 9. Acknowledgements 10. References
Declaration
I, Sumaiah Farook (OMCF-06-100) do hereby state that the research project entitled “Consanguinity and G6PD deficiency in Omani children: a community-based cross-sectional study.”, is entirely my own work and/or specifically acknowledged wherever adapted from other sources. The research was carried out under the supervision and guidance of Dr. Nasser Al-Nazwani.
Sumaiah Farook
Date :
Introduction
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection. It is an X-linked recessive hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH), a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism. G6PD deficiency is the most common human enzyme defect. Individuals with the disease may exhibit nonimmune hemolytic anemia in response to a number of causes, most commonly infection or exposure to certain medications or chemicals. G6PD deficiency is closely linked to favism, a disorder characterized by a hemolytic reaction to consumption of broad beans, with a name derived from the Italian name of the broad bean (fava). The name favism is sometimes used to refer to the enzyme deficiency as a whole, although this is misleading as not all people with G6PD deficiency will manifest a physically observable reaction to consumption of broad beans.
Causes of G6PD Deficiency
G6PD deficiency occurs when a person is missing or doesn 't have enough of an enzyme called glucose-6-phosphate dehydrogenase, which helps red blood cells work properly.
Too little G6PD leads to the destruction of
Declaration
I, Sumaiah Farook (OMCF-06-100) do hereby state that the research project entitled “Consanguinity and G6PD deficiency in Omani children: a community-based cross-sectional study.”, is entirely my own work and/or specifically acknowledged wherever adapted from other sources. The research was carried out under the supervision and guidance of Dr. Nasser Al-Nazwani.
Sumaiah Farook
Date :
Introduction
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection. It is an X-linked recessive hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH), a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism. G6PD deficiency is the most common human enzyme defect. Individuals with the disease may exhibit nonimmune hemolytic anemia in response to a number of causes, most commonly infection or exposure to certain medications or chemicals. G6PD deficiency is closely linked to favism, a disorder characterized by a hemolytic reaction to consumption of broad beans, with a name derived from the Italian name of the broad bean (fava). The name favism is sometimes used to refer to the enzyme deficiency as a whole, although this is misleading as not all people with G6PD deficiency will manifest a physically observable reaction to consumption of broad beans.
Causes of G6PD Deficiency
G6PD deficiency occurs when a person is missing or doesn 't have enough of an enzyme called glucose-6-phosphate dehydrogenase, which helps red blood cells work properly.
Too little G6PD leads to the destruction of
References: 1. Al-Lawati JA, Mabry R, Mohammed AJ. Addressing the threat of chronic diseases in Oman. Prev Chronic Dis 2008; 5(3). Available at http://www.cdc.gov/pcd/issues/2008/jul/07_0086.htm. Accessed July 3, 2010 2