X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

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X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis macrocytosis poikilocytosis elliptocytes and fragmented erythrocytes.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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X-linked dyserythropoietic anemia with abnormal platelets and neutropenia?

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Advocacy Organizations

National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

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Clinical Trials

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