National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital dyserythropoietic anemia type 1

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What are the long term effects of this disease? How does iron overload affect the pancreas and liver?

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What are the signs and symptoms of congenital dyserythropoietic anemia type 1?

Signs and symptoms of congenital dyserythropoietic anemia type 1 (CDA1) commonly become apparent in the newborn period. Symptoms may include:[1] 
  • Anemia: Which is moderate in most cases
  • Jaundice  
  • Iron overload (hemochromatosis): Increased iron absorption may result in heart problems such as congestive heart failure and altered heart rhythm (arrhythmia), as well as liver disease (cirrhosis) and diabetes.
  • Splenomegaly and/or hepatomegaly: May be absent in infants or young children, but develop later with age.
  • Gallstones: May be present in some affected people.
  • Skeletal findings: Specifically in the fingers and toes. 
  • Eye problems resulting in poor vision
Some cases begin in childhood or adulthood, and rarely, in the fetal period, where it presents as hydrops fetalis. Other signs and symptoms that have been reported in people with CDA1 include scoliosis and vertebral defects.[1]
Last updated: 2/20/2017

What is the long-term outlook for people with congenital dyserythropoietic anemia type 1?

The long-term outlook (prognosis) for people with congenital dyserythropoietic anemia type 1 (CDA1) is usually good, even if life expectancy is slightly reduced in some cases. Iron overload complications can be fatal if untreated.[2] Yearly iron overload check ups are recommended. Free iron that precipitates in the body's organs can lead to congestive heart failure, arrhythmias, diabetes, and chronic liver disease (cirrhosis).[1][3]
Last updated: 2/20/2017

How might iron overload affect the pancreas and liver?

Iron overload (hemochromatosis) can affect many parts of the body, including the pancreas and liver. Buildup of iron in the pancreas can interfere with insulin production and cause diabetes mellitus.  Buildup of iron in the liver can lead to liver disease including hepatomegaly; cirrhosis (scarring of the liver and poor liver function); and/or liver failure.[4]
Last updated: 8/27/2014

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  1. Tamary H & Dgany O. Congenital Dyserythropoietic Anemia Type I. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK5313/.
  2. Congenital Dyserythropoietic Anemia Type I. Orphanet. September, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98869.
  3. Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia.
  4. What Is Hemochromatosis?. National Heart, Lung, and Blood Institute. February 1, 2011; http://www.nhlbi.nih.gov/health/health-topics/topics/hemo/. Accessed 8/27/2014.