Systemic Conditions & Therapies

Genetic disorders

Genetic disorders are conditions brought on by variations from the norm in the genetic material contained inside our cells.

There are different genetic disorders that can affect the blood and bone marrow. People inherit genetic disorders or diseases through their genes. They may be diagnosed when a baby is born or the disorder can develop later in life. They include mucopolysaccharide and related diseases (MPS), Wiskott - Aldrich syndrome (this is what Anthony Nolan had), severe combined Immunodeficiency and chronic granulomatous disease. Sometimes people with these conditions will need a stem cell transplant. The charities Genetic Disorders UK have information about these conditions and also offer support to patients and their families.

There are three types of genetic disorders:

Single-gene disorders,where a mutation influences one gene. Sickle cell anemia is an illustration.

Chromosomal disorders, where chromosomes or parts are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.

Complex disorders, where there are mutations in two or more genes. Often your way of life  and environment additionally assume a part. Colon tumor is a case.