Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients With Sickle Cell Disease

About the study


Some people with the same disorder on a genetic level have more complications than others.
Researchers want to look for a link between the PKLR gene and sickle cell disease (SCD)
symptoms. The PKLR gene helps create a protein, called pyruvate kinase that is essential in
normal functioning of the red blood cell. Differences in the PKLR gene, called genetic
variants, may cause some changes in the pyruvate kinase protein and other proteins, that can
affect functioning of the red blood cell adding to the effect of SCD. Researchers can study
these differences by looking at DNA (the material that determines inherited characteristics).


To study how the PKLR gene affects sickle cell disease.


Adults ages 18-80 of African descent. They may have sickle cell disease or not. They must not
have had a transfusion recently or have a known deficiency of pyruvate kinase. They cannot be


Participants will be screened with questions.

Participants will have blood drawn by needle in an arm vein. The blood will be genetically
tested. Not much is known about how genes affect SCD, so the test results will not be shared
with participants or their doctors.

Study point of contact

Mai Hill
(301) 402-2105


1 United States site


18 to 80 Years

Study type






participation restrictions

– History of blood transfusion within the last 8 weeks

– Known to have pyruvate kinase deficiency and be on AG348

– All volunteers will undergo the consent process under this protocol to allow for
eligibility assessment. Once they have been consented to participate, they will
undergo procedures per Protocol.


  • Bethesda, Maryland, United States, National Institutes of Health Clinical Center, 20892 [Recruiting]
Last updated 2021-10-12