Sometimes there are changes in the DNA (deoxyribonucleic acid) that makes up our genes. These changes, or mutations, can affect a person’s health.
The human body is made up of trillions of cells. At the center of each cell is the nucleus, which houses the chromosomes. Each chromosome contains several genes that are used as the body’s instruction manual to build specific proteins, such as factor VIII or factor IX.
Protein molecules help build, regulate, and maintain all functions in the body. In hemophilia, the genes (or instructions) to build clotting-factor proteins are either missing or not working.
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The library (nucleus) contains a bunch of “how-to” encyclopedias (chromosomes) that are written in their own special language (DNA). The encyclopedias are organized into specific chapters (genes), and each chapter provides instructions on how to build a specific protein.
About cells:
About DNA and genes:
Genetic diseases are caused by a change, or mutation, in genes, so proteins are not made correctly. Mutated genes can cause a genetic disease if they:
To function properly, the body needs the right proteins to do the right job at the right time.
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