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.
History of greater than ten administered transfusions or 20 transfusion units (where known)
History of one or more antibody screens
Known candidate variant genotype
Impaired decision-making capability, with or without a legally authorized representative
History of transplant (e.g., organ, bone marrow, stem cell)
Taking immunosuppressive medications at time of enrollment
Confirmed pregnancy
Individuals with sickle cell disease who may or may not have had a history of alloimmune response to blood transfusions. The study population will include children ages 2-17 years old and adults. The study population will not include pregnant women, people taking immunosuppressive medications, or people with a history of transplant (e.g., bone marrow or stem cell transplant).
Case-control
Retrospective
Not listed
Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression.
Analyze samples from study participants to determine whether they have the loci we previously identified.
No additional candidate loci from concurrent discovery studies to evaluate.
When we can no longer identify new potentially causal loci, the study endpoint will be achieved.
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