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Genetics of Thalassemia

Genetics of Thalassemia
▶ Genetics 101
▶ Inheritance
▶ Genetic Counseling
▶ Thalassemia Trait
   --fact sheet PDF
▶ Genetic Testing
   --Testing for Trait
▶ Hemoglobin E Trait
▶ Prevalence & Demographics

Genetics 101

genetic inheritance Having a basic understanding of genetics is invaluable in trying to understand the complexities of thalassemia and its inheritance. Genetics is the study of genes, which are most simply explained as biological instructions. Thousands of genes are passed onto each of us from our mother through the egg and our father through the sperm. These genes instruct our bodies to grow and develop, determining everything from our sex to the color of our eyes and the shapes of our noses.

A complete copy of all the genetic material necessary to create a human being is contained in most all of our body's cells. This genetic material is packaged onto structures called chromosomes. A complete "genetic blueprint" consists of 23 pairs of chromosomes (46 total). Chromosomes are themselves made up of a chemical strand called DNA. Along each DNA strand there are many genes. Each gene is an instruction for making a particular protein. Proteins are responsible for carrying out all the tasks needed to create and maintain a living person.

In thalassemia, a change occurs in the genes that tell the body how to make the globin protein, which makes up part of hemoglobin, the oxygen-carrying component inside our red blood cells. This genetic change leads to decreased or absent production of this very important protein.


Northern California Comprehensive Thalassemia Center
747 52nd Street, Oakland CA 94609   •   Phone: (510) 428-3651   •   Fax: (510) 450-5647
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