Congenital Dyserythropoietic Anemia

Congenital Dyserythropoietic Anemia

Congenital dyserythropoietic anemia (CDA) is a group of rare, inherited blood disorders. People with CDA do not produce red blood cells normally. This typically results in anemia (low red blood cell count) and too much iron in the body. Over time, CDA can cause organ damage.

Congenital dyserythropoietic anemias can be diagnosed at any age. Symptoms vary depending on what type of CDA a person has. CDA is so rare that some doctors who specialize in blood disorders can go years without diagnosing a patient with this condition.

The name congenital dyserythropoietic anemia comes from:

  • Congenital, meaning present from birth (although CDA can be diagnosed much later)
  • Dyserythropoietic, referring to the defective development of red blood cells, also called erythrocytes
  • Anemia, a condition in which a person lacks enough healthy red blood cells to carry enough oxygen to the body's tissues

Congenital Dyserythropoietic Anemia Causes

CDA is an inherited disorder caused by defects in a person’s genetic code. Scientists have discovered six genes that are related to CDA, but believe there are many others.

Congenital Dyserythropoietic Anemia Types

Researchers have identified five major types of CDA (CDA 1-5), but up to half of all cases cannot be classified. CDA 2 is the most common type; CDA 3 and 5 are the least common.

Congenital Dyserythropoietic Anemia Signs and Symptoms

Most, but not all, signs and symptoms of congenital dyserythropoietic anemia are due to chronic anemia.

They can include:

  • Fatigue and lack of energy
  • Jaundice (a high level of a pigment called bilirubin in the blood)
  • Pale skin
  • Enlarged spleen
  • Gallstones
  • Small stature
  • Abnormalities of the skeleton. In people with CDA 1, this can include unusually small fingers and toes, or fingers and toes that are fused together.

Some people don’t show signs or symptoms of CDA and are diagnosed during a routine physical or through tests done for other conditions.

The signs and symptoms of congenital dyserythropoietic anemia mimic those of other blood disorders, which can make it hard to diagnose. It isn’t unusual for patients with congenital dyserythropoietic anemia to have another condition, such as hemolytic anemia, and a genetic evaluation gives them an accurate diagnosis.

Congenital Dyserythropoietic Anemia Diagnosis

Doctors rely on lab tests, imaging and genetic tests to CDA.

These tests can include:

  • Blood tests
  • Bone marrow analysis
  • Tests to understand the cause of jaundice and evaluate the production of red blood cells
  • Lab tests and imaging to measure iron levels
  • Molecular/gene testing

Cincinnati Children’s is one of only a few medical centers that offers a genetic panel for congenital dyserythropoietic anemia. The panel identifies mutations in the six known genes associated with CDAs and two more genes associated with related syndromes. Pediatric and adult patients can request congenital dyserythropoietic anemia genetic testing at Cincinnati Children’s.

Congenital Dyserythropoietic Anemia Treatment Options

Treatment for CDA focuses on managing symptoms through blood transfusions and medications. Some people may need to have their spleen and/or gallbladder removed. When symptoms are severe, a stem cell transplant may be necessary. Stem cell transplant is currently the only cure for congenital dyserythropoietic anemia.

Congenital Dyserythropoietic Anemia Research

Research to better understand congenital dyserythropoietic anemia and develop treatment options is limited. Doctors and scientists at Cincinnati Children’s are working to change that. In 2016, they created a CDA registry, the first of its kind in North America. The registry creates a database and biorepository (tissue bank) for congenital dyserythropoietic anemia patients. The registry will help scientists study this rare disease group. The ultimate goal is to find more effective treatment strategies.

What Is the Long-Term Outlook for Children with Congenital Dyserythropoietic Anemia?

CDA can lead to problems with the liver, heart and endocrine (hormone) system. People with congenital dyserythropoietic anemia need to have long-term follow-up to treat problems related to their condition.

Last Updated 10/2020

Reviewed By Theodosia A. Kalfa, MD, PhD