About Genetic Conditions | Genetics of Hemophilia

About Genetic Conditions

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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Another way to think about this is like a reference library.

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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.

Frequently asked questions

About cells:

  • Our bodies are made up of many types of cells, such as muscle and nerve cells.
  • As we grow, cells divide to make more cells to help take care of everything in our growing/changing body, from fixing a skinned elbow to replacing old or damaged cells.
  • Cells shape the body, which is why we are composed of trillions of them. From converting food into energy to carrying out specific functions in the body, cells help to keep everything running properly.
  • Cells contain genetic information, or DNA.

About DNA and genes:

  • Inside almost every cell, you will find DNA (also known as deoxyribonucleic acid).
  • Genes are made up of DNA.
  • DNA in the genes contains instructions for the body to make proteins needed for a person to grow, develop, and survive.

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:

  • Make a protein that doesn’t work correctly.
  • Make more of the protein than is needed.
  • Do not make enough or any of the needed protein.

To function properly, the body needs the right proteins to do the right job at the right time.

In hemophilia, there is a mutation in the gene that contains the instructions for creating one of several important blood-clotting proteins.

Learn more about the role genes play in hemophilia.

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