2011 Group Project 1

Note - This page is an undergraduate science embryology student group project 2011. 2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

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Introduction

- a syndrome derived from the thalassa (sea) and haima (blood)

- a group of hereditary blood disorders

- reduced or absent beta globin chain synthesis caused by mutations, resulting in reduced Hb in red blood cells (RBC), decreased RBC production and anemia.

- Most thalassemias are inherited as recessive traits.

Epidemiology

- Prevalent in Mediterranean countries, the Middle East, Central Asia, India, Southern China, and the Far East as well as countries along the north coast of Africa and in South America.

- Reason for high prevalence across the globe is due to migration and intermarriage between different ethnic groups.

- Approximately 80 to 90 million people are carriers of beta-thalassemia and most are from developed nations, with about 60,000 symptomatic individuals born annually.

- The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world.

- Research shows that about 200,000 patients with thalassemia major have successful outcome in treatment.

References

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2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip