What are the other Names for this Condition? (Also known as/Synonyms)

• CDA Type 1
• Type I CDA

What is Congenital Dyserythropoietic Anemia Type 1? (Definition/Background Information)

• Congenital Dyserythropoietic Anemia Type 1 is an inherited blood disorder characterized by moderate to severe anemia
• The disorder is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth
• Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) 
• Congenital Dyserythropoietic Anemia Type 1 also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis)
• Rarely, people with Congenital Dyserythropoietic Anemia Type 1 are born with skeletal abnormalities, most often involving the fingers and/or toes. 
• Congenital Dyserythropoietic Anemia Type 1 usually results from mutations in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases).  In about 9% of the cases, no cause can be identified. CDA Type 1 is inherited in an autosomal recessive pattern
• Treatment involves medication such as interferon, and sometimes bone marrow transplant

(Source: Congenital Dyserythropoietic Anemia Type 1; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Congenital Dyserythropoietic Anemia Type 1? (Age and Sex Distribution)

• Congenital Dyserythropoietic Anemia Type 1 is a rare congenital disorder. The presentation of symptoms most often begin in childhood or adolescence, although, in rare cases, symptoms may be apparent before birth or soon after birth

(Source: Congenital Dyserythropoietic Anemia Type 1; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Congenital Dyserythropoietic Anemia Type 1? (Predisposing Factors)

• A positive family history may be an important risk factor, since Congenital Dyserythropoietic Anemia Type 1 can be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Dyserythropoietic Anemia Type 1? (Etiology)

• Congenital Dyserythropoietic Anemia Type 1 is usually caused by mutations in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases)  
• In about 9% of the cases, no cause can be identified for the disorder
• CDA Type 1 is inherited in an autosomal recessive pattern

(Source: Congenital Dyserythropoietic Anemia Type 1; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected)

What are the Signs and Symptoms of Congenital Dyserythropoietic Anemia Type 1?

The signs and symptoms of Congenital Dyserythropoietic Anemia Type 1 vary, but may include:

• Anemia, which is moderate in most cases
• Jaundice  
• Iron overload (hemochromatosis) or increased iron absorption 
• 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

Occasionally present symptoms in 5-29% of the cases:

• Small nail
• Syndactyly

In addition to the above, the following signs and symptoms may also be present

• Hydrops fetalis (edema in the fetus)
• Anemia of inadequate production
• Anisocytosis
• Erythroid hyperplasia
• Macrocytic dyserythropoietic anemia
• Mild postnatal growth retardation
• Pallor
• Poikilocytosis
• Scoliosis
• Vertebral defects

(Source: Congenital Dyserythropoietic Anemia Type 1; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Congenital Dyserythropoietic Anemia Type 1 Diagnosed?

Congenital Dyserythropoietic Anemia Type 1 is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Prenatal tests to check for hydrops fetalis (edema in the fetus)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Dyserythropoietic Anemia Type 1?

The complications of Congenital Dyserythropoietic Anemia Type 1 may include:

• Severe fatigue
• Fainting episodes
• Risk of infections
• Liver disease (cirrhosis)
• Diabetes 
• Arrhythmia
• Congestive heart failure

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Congenital Dyserythropoietic Anemia Type 1 Treated?

The treatment for Congenital Dyserythropoietic Anemia Type 1 may involve 

• Use of a medication called interferon
• Bone marrow transplant

(Source: Congenital Dyserythropoietic Anemia Type 1; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Congenital Dyserythropoietic Anemia Type 1 be Prevented?

• Currently, Congenital Dyserythropoietic Anemia Type 1 may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Congenital Dyserythropoietic Anemia Type 1? (Outcomes/Resolutions)

• The prognosis for people with Congenital Dyserythropoietic Anemia Type 1 is usually good, even if life expectancy is slightly reduced in some cases
• Iron overload complications can be fatal if untreated. Yearly iron overload checkups are recommended 
• Free iron that precipitates in the body's organs can lead to congestive heart failure, arrhythmias, diabetes, and chronic liver disease (cirrhosis)

Additional and Relevant Useful Information for Congenital Dyserythropoietic Anemia Type 1:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/