Observational Study to Determine Red Blood Cell Alloimmunization Risk Etiology in Patients With Sickle Cell Disease
National Human Genome Research Institute (NHGRI)
Summary
The purpose of this research study is to look at genes and determine how they interact with each other to find changes that could explain why some people's immune systems may respond to blood transfusions. This response is called an alloimmune response. We strongly believe that when someone has an alloimmune response, it is caused by changes in their genes. We plan to compare changes in the genes of individuals that develop red blood cell alloimmunization after blood transfusions with those that do not develop alloimmunization. This may help us to create more targeted therapeutic interventions, which may improve the health of alloimmune responders.
Description
Study Description: This study seeks to fine-map risk variants associated with increased susceptibility to developing red blood cell alloantibodies in patients with sickle cell disease (SCD), with the goal of characterizing the molecular basis of the alloimmunization response. This will allow for improved clinical management for individuals susceptible to alloimmunization responses. Objectives: Primary Objective: Elucidate the role of previously identified risk loci in the development of alloantibodies among individuals with SCD. Secondary Objective: Validate and characterize additional,…
Eligibility
- Age range
- 2–99 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA To be eligible to participate in this study, an individual must meet all of the following criteria: 1\. Individual (\> 2 years of age) with confirmed SCD diagnosis who meets at least one of the following conditions: 1. History of greater than ten administered transfusions or 20 transfusion units (where known) 2. History of one or more antibody screens 3. Known candidate variant genotype EXCLUSION CRITERIA An individual who meets any the following criteria will be excluded from participation in this study: 1. Impaired decision-making capability, with or without a lega…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland