Congenital Hemolytic and Dyserythropoietic Anemias

NCT07649213 | Recruiting

• 1 other identifier: Congenital Hem/2011-1510
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

The main reason for this research study is to further understand how some red blood cells are formed incorrectly or they have an abnormal metabolism in a way that they break easier in the circulation or during their passage through the spleen. Participants and/or family members diagnosed with non-immune hemolytic anemia due to a genetic disorder, such as, hemoglobin disorder, erythrocyte membrane skeleton disorders (e.g. spherocytosis, elliptocytosis, or stomatocytosis) or hydration defect (e.g. xerocytosis, overhydrocytosis) or red blood cell (RBC) enzyme disorders, or with a congenital dyserythropoietic anemia (CDA) will be asked to participate.

Conditions

Hemolytic Anemia

Outcome Measures

Primary Outcomes (1)

• Percentage of Participants with an Established Molecular Diagnosis of a Red Blood Cell Disorder

  The proportion of participants in whom a molecular diagnosis is established through genetic and laboratory evaluation, defined as identification of pathogenic or likely pathogenic variants associated with hereditary hemolytic anemia (including hemoglobin disorders, erythrocyte membrane disorders, and red blood cell enzymopathies) or dyserythropoietic anemia.

  From enrollment to completion of molecular and diagnostic evaluation (approximately 12-24 months)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

If medical history and review of the laboratory data obtained for clinical care, including CBC/reticulocyte count and review of the blood smear, indicates that the patient has a non-immune hemolytic anemia that may be due to a hemoglobinopathy, a red cell membrane skeleton or enzyme disorder, then the patients and their families will be asked for their participation in the study. The rare patients suspected to have congenital dyserythropoietic anemia will also be eligible for this study.

You may qualify if:

• Patients who have been diagnosed, by medical history and review of the laboratory data obtained for clinical care, including CBC/reticulocyte count and review of the blood smear, with a hereditary hemolytic anemia, where the genetic etiology is challenging to be identified.
• Parents and/or grandparents of children that have the above diagnosis. The parents and/or grandparents may or may not have non-immune hemolytic anemia (these will serve as positive or negative inherent controls)

You may not qualify if:

• \) Patients with anemias known to be acquired and not associated with a genetic etiology.

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

The mutations identified will be compared to the published sequence for every gene and compared to known mutations published to cause congenital hemolytic or dyserythropoietic anemias. If new mutations are identified, in silico prediction programs will be employed to identify if these mutations are potentially damaging. Parallel analysis of the transcriptome by RNA-seq of reticulocytes or EBV-immortalized lymphocytes generated from the patient's peripheral blood specimen may also be used if applicable to evaluate pathogenicity of candidate variants. Structure analysis of the mutated proteins will be performed based on what is known on their structure and domain interactions so far with adjacent proteins. Protein biochemistry (electrophoresis and western blotting) and flow cytometry will be used to investigate for altered protein quantity or quality (interaction with other proteins) that would verify pathogenicity of a newly identified mutation.

MeSH Terms

Conditions

Anemia, Hemolytic

Condition Hierarchy (Ancestors)

Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases

Central Study Contacts

Amy Shova

CONTACT

513-803-1917; amy.shova@cchmc.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 11, 2026
• First Posted: June 16, 2026
• Study Start: July 25, 2011
• Primary Completion (Estimated): July 1, 2050
• Study Completion (Estimated): July 1, 2052
• Last Updated: June 17, 2026

Record last verified: 2026-06

Locations

US (1)