The investigators have created and maintain a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry is to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and maintain 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.

We have established 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 is to maintain a database and bio-repository for patients with CDA and their families in order to systematically study this rare disease-group. Data regarding these subjects are collected confidentially at initial presentation or diagnosis and periodically thereafter over a long period of time (>15 years). In addition, blood, bone marrow (only if that procedure is clinically indicated based on the primary hematologist's decision) and/or DNA samples of enrolled subjects are stored for research studies with the aim to improve our understanding, diagnosis, and treatment of CDA.

The study continues recruiting.

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.

Congenital Dyserythropoietic Anemia (CDA)

Data regarding subjects that meet inclusion 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 diagnosis, treatment and care of CDA.

The samples and medical information (that is not associated with a patient's name) may be used by other researchers studying CDA, at Cincinnati Children's Hospital Medical Center or at other institutions. The researchers must get Institutional Review Board (a board that is in charge of regulating research done on people) approval prior to requesting data and/or samples from this repository if applicable. No identifying information (that associates the medical information with the subject or sample) will be available to them.