congenital dyserythropoietic anemia type 3

Congenital dyserythropoietic anemia type 3 (CDA III) is a rare blood disorder that affects red blood cell development, resulting in mild to moderate anemia. Abnormalities in the bone marrow, including the presence of unusually large, multinucleated erythroblasts, are a hallmark of the condition. The disorder is associated with pathogenic variants in the KIF23 gene and is inherited in an autosomal dominant pattern, and it is extremely rare, affecting fewer than 1 in 1,000,000 people.

Individuals with CDA III typically display laboratory findings such as reduced haptoglobin levels and increased circulating lactate dehydrogenase, reflecting the abnormal production and turnover of red blood cells. These findings often accompany clinical symptoms related to anemia, including fatigue and pallor. Not all individuals experience every feature, and the severity of symptoms can vary considerably.

CDA III is caused by pathogenic variants in the KIF23 gene, which plays an essential role in cell division and proper erythropoiesis. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene is sufficient to cause the disorder. This also means that each child of an affected individual has a chance of inheriting the variant, and families may benefit from genetic counseling to discuss these implications.

Currently, management of CDA III focuses on supportive care and symptom management, as there are no FDA-approved treatments specifically linked to the condition. Treatment is tailored to the individual and often involves a multidisciplinary team to monitor health and address symptoms effectively. Patients are encouraged to discuss treatment options with their healthcare team, and genetic counseling can provide additional guidance regarding inheritance and family planning.

With supportive management, many individuals with CDA III maintain a stable condition, although outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. Outcomes described in medical literature continue to evolve as standards of care improve, and not all individuals experience all features. Families often find it helpful to connect with specialists and genetic counselors to better understand the potential course of the condition and plan for long-term management.