Dyserythropoietic anemia, congenital type 2

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Congenital Dyserythropoietic Anemia Type 2
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Anemia, jaundice, splenomegaly
Complications N/A
Onset Birth or early childhood
Duration Lifelong
Types N/A
Causes Genetic mutation in the SEC23B gene
Risks N/A
Diagnosis Blood tests, bone marrow biopsy, genetic testing
Differential diagnosis N/A
Prevention N/A
Treatment Blood transfusions, iron chelation, splenectomy
Medication N/A
Prognosis Variable
Frequency N/A
Deaths N/A


Congenital Dyserythropoietic Anemia Type 2 (CDA II) is a rare genetic disorder characterized by ineffective erythropoiesis, leading to anemia and other related symptoms. It is one of the three main types of congenital dyserythropoietic anemias, which are disorders affecting red blood cell production.

Pathophysiology[edit | edit source]

CDA II is caused by mutations in the SEC23B gene, which plays a crucial role in the transport of proteins from the endoplasmic reticulum to the Golgi apparatus. The mutation leads to abnormal development of erythroblasts, resulting in ineffective erythropoiesis and the production of abnormal red blood cells. These cells often have a double membrane and show signs of dyserythropoiesis, such as binucleation and karyorrhexis.

Clinical Presentation[edit | edit source]

Patients with CDA II typically present with symptoms of anemia, including fatigue, pallor, and jaundice. Splenomegaly is common due to the increased destruction of abnormal red blood cells. Some patients may also develop gallstones due to chronic hemolysis.

Diagnosis[edit | edit source]

Diagnosis of CDA II involves a combination of clinical evaluation, blood tests, and bone marrow biopsy. Blood tests typically show anemia with increased indirect bilirubin and low haptoglobin levels. Bone marrow examination reveals binucleated erythroblasts and other signs of dyserythropoiesis. Genetic testing can confirm the diagnosis by identifying mutations in the SEC23B gene.

Treatment[edit | edit source]

Management of CDA II focuses on alleviating symptoms and preventing complications. Regular blood transfusions may be necessary to manage severe anemia. Iron chelation therapy is often required to prevent iron overload due to repeated transfusions. In some cases, splenectomy may be performed to reduce hemolysis and improve anemia.

Prognosis[edit | edit source]

The prognosis for individuals with CDA II varies. Some patients may have mild symptoms and lead relatively normal lives, while others may experience severe anemia and complications. Lifelong monitoring and management are typically required.

Also see[edit | edit source]

Template:Congenital Dyserythropoietic Anemias

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Contributors: Prab R. Tumpati, MD