About Genetic Conditions | Genetics of Hemophilia

Genetics and Hemophilia

to understand the science behind gene therapy, we first need to understand the role genes play in the body.

Discover the Role Genes Play in Hemophilia

Learn more about mutation in the F8 or F9 gene in hemophilia.

“To understand the science behind gene therapy research, you have to start by understanding the role of genes.”

“To understand the science behind gene therapy research, we first need to understand the roles of genes. Genes are inside all of the trillions of cells that make up the human body. Think of genes as instruction manuals that tell the body how to make proteins, such as blood clotting factors.

Sometimes there are changes in genes that affect a person’s health. These are called mutations. In hemophilia, when the F8 or F9 gene has a mutation, it makes limited, dysfunctional, or no FVIII or FIX clotting protein. This results in delayed or deficient clot formation and the potential for increased bleeding.

Now that you understand the basic genetics behind hemophilia, you might wonder if there is a way to address hemophilia at its source—the gene. In fact, investigational gene therapy, an approach that aims to do just that, is being researched in hemophilia right now.

Explore the science of gene therapy research at HemophiliaForward.com.”

“Para entender la ciencia de la investigación sobre terapia génica, hay que saber las funciones de los genes.”

“Para entender la ciencia de la investigación sobre terapia génica, hay que saber las funciones de los genes. Los genes están dentro de los billones de células que forman el cuerpo humano. Los genes son como un manual que instruye al cuerpo cómo fabricar proteínas, como los factores de coagulación.

A veces, hay cambios en los genes afectan la salud de una persona. Estos se denominan mutaciones. En la hemofilia, cuando el gen F8 o F9 tiene una mutación, produce una proteína de coagulación de factor VIII o IX limitada, disfuncional o nula. Esto causa la formación tardía o deficiente de coágulos y el potencial de mayor sangrado.

Ahora que entiende la genética básica de la hemofilia, puede que se pregunte si hay una forma de abordar la hemofilia desde su origen, el gen. De hecho, la terapia génica investigativa, un enfoque que pretende hacer eso, se está investigando ahora en la hemofilia.

Explore la ciencia de la investigación sobre terapia génica en HemophiliaForward.com.”

About genetic conditions

Genes are the body’s instruction manual. The human body is made up of trillions of cells. At the center of each cell is the nucleus, which contains all of the instructions the body needs to function.

Learn more about chromosomes and clotting factors and how they relate to hemophilia.

What role do genes play in hemophilia?

Hemophilia is most often inherited, meaning it’s passed down through a mutation in the parents’ genes.

Learn more about types, severity, and symptoms of hemophilia.

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