Congenital dyserythropoietic anaemia
Última actualización 4 de marzo de 2025
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Congenital dyserythropoietic anaemia (CDA) is a rare group of inherited blood disorders that affects the development of red blood cells. In people with CDA, immature red blood cells do not develop into normal, mature cells. As a result, affected individuals have a significant reduction in the number of functional red blood cells (anaemia). The term "dyserythropoietic" refers to the abnormal red blood cell shape that occurs in people with this condition. People with CDA typically have mild to moderate anaemia. In some cases, affected individuals have severe anaemia that may require frequent blood transfusions to replenish the supply of red blood cells.
Descripción
Congenital dyserythropoietic anaemia (CDA) is a rare group of inherited blood disorders that affects the development of red blood cells. In people with CDA, immature red blood cells do not develop into normal, mature cells. As a result, affected individuals have a significant reduction in the number of functional red blood cells (anaemia). The term "dyserythropoietic" refers to the abnormal red blood cell shape that occurs in people with this condition. People with CDA typically have mild to moderate anaemia. In some cases, affected individuals have severe anaemia that may require frequent blood transfusions to replenish the supply of red blood cells.
The signs and symptoms of CDA can include tiredness (fatigue), weakness, yellowing of the skin and eyes (jaundice), and an enlarged liver and spleen (hepatosplenomegaly). CDA also causes the body to absorb too much iron (iron overload), which can damage tissues and organs.
There are multiple types of CDA. Each type has a different genetic cause and distinct but overlapping patterns of signs and symptoms.
CDA type I is characterised by moderate to severe anaemia that typically begins in childhood or adolescence, although the condition can be detected before birth in some cases. In addition to the signs and symptoms common to all types of CDA, individuals with CDA type I can have skeletal issues, including short stature or abnormalities of the fingers or toes.
The anaemia associated with CDA type II can range from mild to severe, and it usually develops in adolescence or early adulthood. Individuals with CDA type II may develop hard deposits in the gallbladder called gallstones in addition to the usual signs and symptoms of CDA.
CDA type III can result in anaemia that ranges from mild to severe, depending on the genetic cause, and typically begins in infancy or childhood. Some people with CDA type III do not receive a diagnosis until later in life because they have very mild symptoms. In some cases, individuals with CDA type III develop a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). Some people with CDA type III have eye abnormalities that can cause vision impairment.
CDA type IV is characterised by moderate to severe anaemia that typically develops early in life, although the condition can be detected before birth in some cases. Affected individuals can have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). In addition to the signs and symptoms that are common to all types of CDA, individuals with CDA type IV often have short stature.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant+1 affected parent. More than one pattern can apply in different cases.
Related genes
Otros nombres
Anaemia, dyserythropoietic, congenital
CDA
congenital dyserythropoietic anaemia
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Lecturas adicionales y referencias
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