Congenital dyserythropoietic anemia

Other Names: 

CDA

Summary

Congenital dyserythropoietic anemia is a hereditary disease that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. The signs and symptoms may include fatigue, weakness, pale skin, yellowing of the skin and eyes (jaundice), larger-than-normal liver and spleen (hepatosplenomegaly), and problems of the heart. There are four major types of the condition. Each type has a different cause and the additional signs and symptoms mentioned below: Type 1: Characterized by moderate to severe anemia; jaundice; hepatosplenomegaly; and iron overload, which can lead to heart problems, liver disease (cirrhosis), and diabetes. Some people are born with skeletal defects of the fingers and/or toes. In some cases, the disease can be detected before birth as a hydrops fetalis. It is usually caused by changes in the CDAN1 and C15orf41(less frequently) genes. Type 2: Characterized by hepatosplenomegaly, gallbladder stones, and a milder form of anemia. It is caused by genetic changes in the SEC23B gene Type 3: The rarest form of the types. The liver is unaffected, but eye and blood problems (monoclonal gammopathy) are present. The exact cause of this type is currently unknown but it likely results from genetic changes in a gene located on the long arm of chromosome 15 at a position designated 15q22. Type 4: Characterized by very severe anemia. It is caused by genetic changes in the KLF1 gene. Types 1 and 2 are inherited in an autosomal recessive manner. Type 3 appears to be inherited in an autosomal dominant manner. Type 4 is inherited in an autosomal dominant manner.

About Congenital dyserythropoietic anemia

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:Fewer than 5,000 people in the U.S. have thisdisease.
• Symptoms:May start to appear as a Child.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:GARD is not currently aware of organizations specific to this disease.
• Categories:Genetic DiseasesBlood Diseases

Genetic Mutations

Congenital dyserythropoietic 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. Learn more about genetic diseases from the National Library of Medicine (NLM).

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. This tool from the Surgeon General can help you collect your family health history.

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.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Congenital dyserythropoietic anemia Begin?

Symptoms of this disease may start to appear as a Child.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.