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Congenital Dyserythropoietic Anemia (CDA)
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth
Prevalence
<1 / 1 000 000
331
US Estimated
514
Europe Estimated
Age of Onset
Infancy
ICD-10
D64.4
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
CDA is a group of rare inherited disorders characterized by ineffective erythropoiesis, distinct morphological abnormalities of erythroblasts, and varying degrees of anemia
FACT
Bone marrow examination reveals pathognomonic features such as binucleated erythroblasts, internuclear chromatin bridges, and other nuclear abnormalities, depending on the CDA subtype
FACT
CDA type II is the most common form, caused by mutations in the SEC23B gene and inherited in an autosomal recessive pattern; CDA I (often CDAN1) and CDA III are rarer
FACT
Complications include iron overload, gallstones, hepatosplenomegaly, and growth delays, even in non-transfusion-dependent patients, requiring lifelong surveillance and management
FACT
Management strategies include transfusion support, iron chelation, and in select cases, interferon-alpha or hematopoietic stem cell transplantation, especially in severe phenotypes
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Common signs & symptoms
Moderate to severe anemia
Ineffective erythropoiesis
Jaundice
Iron overload
even without transfusions
Skeletal deformities
in severe cases
Gallstones, fatigue, and growth delays
Current treatments
Regular monitoring
of hemoglobin and iron levels
Blood transfusions
for severe anemia
Iron chelation therapy
to manage iron overload
Splenectomy
in some cases
Hematopoietic stem cell transplant (HSCT)
considered in severe transfusion-dependent cases