Congenital dyserythropoietic anemia is an inherited condition presented with a low quantity of red blood cells and is one of the several types of anemia. This shortage of healthy red blood cells can affect several parts of the body when oxygen supply is disturbed. The symptoms associated with congenital dyserythropoietic anemia include fatigue, pale skin and other associated complications. Congenital dyserythropoietic anemia is divided into three types differentiated by the genetic cause and symptoms presented. This consists of type 1, type 2 and type 3.
Type 1
This type of congenital dyserythropoietic anemia usually affects the children and adolescence, although it can be detected before the birth. This severe type can cause symptoms such as jaundice, enlarged spleen and liver. The type 1 develops when the body absorbs an excess amount of iron that can affect several organs in the body and can be the cause of cirrhosis, congestive heart condition and diabetes. This is inherited in an autosomal recessive pattern where both the copies of the gene in each cell have a mutation. The genetic mutation in the CDAN1 is responsible for the cause of type 1 congenital dyserythropoietic anemia. However, cases have been presented when this gene is not identified to be the cause and can be the result of a mutation in one other gene.
Type 2
Congenital dyserythropoietic anemia type 2 can range from a mild to a severe condition that causes jaundice and gallstones. Type 2 usually occurs in adolescent and adults. The excess accumulation of iron in the body can affect various organs of the body and may include heart conditions, diabetes and chronic liver problems. This is also inherited in an autosomal recessive pattern meaning both the copies of the gene in the cell, one from each parent, is defective. The type 2 is caused by the mutation in the gene SEC23B which affects the transportation of certain proteins within the cells.
Type 3
Congenital dyserythropoietic anemia type 3 is usually a milder condition and the iron content does not accumulate in the organs characteristic of the other types. The individuals affected with this condition exhibit vision impairment and blood disorder known as monoclonal gammopathy. The type 3 is inherited in an autosomal dominant pattern where one copy of the defective gene can develop this disorder. The genetic mutation of type 3 congenital dyserythropoietic anemia has not been identified.
Diagnosis
The diagnosis of congenital dyserythropoietic anemia can be detected in the blood tests, bone marrow examination, measuring the iron content and serum bilirubin test which identifies the cause of jaundice. The genetic testing can confirm the diagnosis with the identification of genetic mutation responsible for each type of congenital dyserythropoietic anemia.
Treatment
The only form of treatment for congenital dyserythropoietic anemia includes the stem cell transplant depending on the severity of the condition. The other treatment is usually based on the symptoms associated and may require blood transfusions, medications to treat the problems associated with iron content in the body, a surgical procedure to remove the spleen and gallbladder if necessary.
References
http://www.danafarberbostonchildrens.org/congenital_dyserythropoietic_anemia_overview.aspx
https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia#inheritance
