Congenital dyserythropoietic anemia

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 (mutations) in the CDAN1 and C15orf41 (less frequently) genes.
• Type 2 : Characterized by hepatosplenomegaly, gallbladder stones, and a milder form of anemia. After 20 years of age, some affected people develop iron overload. It is caused by mutations 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 mutations 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 mutations 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. Treatment may involve the use of a medication called interferon, and a bone marrow transplant.