Blackfan-Diamond Anemia

Blackfan-Diamond anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. In some cases there is also short stature. Blackfan-Diamond anemia is caused by genetic changes in several genes, some of which have been identified and some of which have not. Identified genes include but are not limited to: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS7, RPS17, RPS24, RPS26 and GATA1 genes. Patients with genetic changes in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. Patients with genetic changes in the RPL11 gene have thumb anomalies more frequently than people with the other types. Genetic changes in the GATA1 gene are associated with severe anemia. Most cases are isolated, but about 45% of people with Blackfan-Diamond anemia inherit this condition from a parent. Inheritance is typically autosomal dominant, but can rarely be X-linked. The severity of the disease is very varied.

Genetic Mutations: Blackfan-Diamond anemia is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.

Known Genetic Mutations: Blackfan-Diamond anemia is caused by genetic mutations in the following known gene(s):

RPL26, RPS15A, GATA1, RPS7, RPS17, RPS26, RPL18, CECR1, RPS19, RPL35, RPL35A, RPL15, RPS20, RPS28, RPS24, RPL11, RPS10, TSR2, RPL5, RPS29

Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease, or can provide other useful information to your health care team.

Disruption in Metabolism: Blackfan-Diamond anemia is caused by a disruption in a person’s metabolism. Metabolism is the series of chemical reactions in our body that turns the food we eat into energy and removes toxins. Hormones and specific proteins, called enzymes, help make the right chemical reactions happen in the right order. However, genetic changes can prevent hormones or enzymes from working properly, which can lead to a disruption in metabolism such as energy not being created for the body or toxins not being removed from the body.

Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team.

There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD’s current data, this disease can be inherited in the following pattern(s):

Autosomal Dominant: Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.