The Congenital Dyserythropoietic Anemia Registry (CDAR)
The Congenital Dyserythropoietic Anemia Registry (CDAR)
The investigators propose the creation and maintenance of a comprehensive registry for
 patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America.
 The goal of this registry will be to collect long-term confidential data on patients with CDA
 in the US, Canada, and Mexico and create a bio-repository of de-identified patient blood and
 bone marrow specimens as a tool for the investigation of epidemiology, natural history,
 biology, and molecular pathogenetic mechanisms of CDA.
To establish and maintain a CDA registry (CDAR): a comprehensive registry of subjects with
 the diagnosis of any type of congenital dyserythropoietic anemia in North America. Subjects
 and their physicians have expressed interest in participating in a national/international
 registry that could promote research and further understanding of this rare disease-group.

 CDAs consist a heterogeneous group of rare genetic disorders causing ineffective
 erythropoiesis with the characteristic finding of multinuclear erythroid precursors in the
 bone marrow. The other hematopoietic lineages seem unaffected. The diagnosis of CDA is
 clinically challenging and is based on identifying the characteristic morphology of
 erythroblasts in the bone marrow of subjects presenting with chronic anemia, frequently with
 evidence of hemolysis but suboptimal reticulocytosis, and iron overload. Three types are
 well-defined by marrow morphology, although a recent classification recognizes seven
 different genetic types. Since certain gene defects were identified in the different types of
 CDAs, our understanding of the biology and pathogenesis of these diseases has been improving.
 However, many gaps still exist in our understanding of the related molecular mechanisms
 primarily due to the rarity of the disease and the lack of systematic approach to study these
 subjects. In addition, the heterogeneity observed among subjects and the clinical overlap
 with other hematologic disorders, namely hemolytic anemias with brisk erythropoietic response
 that may be associated with erythroid dysplasia, and with ineffective erythropoiesis, further
 complicates the diagnosis and often delays appropriate diagnosis and therapy.

 The purpose of CDAR will be to establish a database and bio-repository for CDA subjects and
 their families in order to systematically study this rare disease-group. Data regarding these
 subjects will be collected confidentially at initial presentation or diagnosis and
 periodically thereafter over a long period of time (>15 years). In addition, blood, bone
 marrow and/or DNA samples of enrolled subjects will be stored for research studies with the
 aim to improve our understanding, diagnosis, and treatment of CDA.
Inclusion Criteria:

 -  Diagnosis of Congenital Dyserythropoietic Anemia (CDA), whether a genetic mutation is
 identified or not

 -  Evidence of congenital anemia/jaundice or a positive family history

 -  Evidence of ineffective erythropoiesis

 -  Typical morphological appearance of bone marrow erythroblasts

 -  All ages (ages 0-99)

 Exclusion Criteria:

 -  Diagnosis of cancer

 -  Myelodysplasia

 -  Secondary dyserythropoiesis: e.g.; vitamin B12 deficiency or drug-related.

 Note1: Patients with rare band 3 (SLC4A1) mutations recently described to be associated
 with dyserythropoiesis will be eligible since the mechanisms appear to involve direct
 participation of band 3 in the erythroblast mitosis and cytokinesis.

 Note2: Siblings, parents, and family members of patients with confirmed CDA diagnosis are
 encouraged to participate in the study.