HDL<sub>3</sub> deficiency in SCD plasma was found to relate to a slower ApoA-I exchange rate, which suggests an impaired ABCA1-mediated cholesterol efflux in SCD.
Surprisingly, our review identified only a limited number of studies that addressed the genetic/genomic basis of variable responses to pain (e.g., variants in OPRM1, HMOX-1, GCH1, VEGFA COMT genes), and pharmacogenomics of antalgics and opioids (e.g., variants in OPRM1, STAT6, ABCB1, and COMT genes) in SCD.
This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ.
Seventy-one percent of non-sickle cell treatment centres (SCTCs) and 20% of non-thalassemia treatment centres follow NHLBI and TIF recommendations to perform a red blood cell phenotype beyond ABO/Rh(D) and provide Rh and Kell prophylactically matched units for SCD and thalassemia patients, respectively.
The panel recommends that ABO D CcEe K-matched RBCs are selected for individuals with SCD and β-thalassemia, even in the absence of alloantibodies, to reduce the risk of alloimmunization.
We selected DNA samples from 144 SCD patients with multiple (receiving > 5 units) transfusions previously phenotyped for ABO, Rh(D, C, c, E, e), K1, Fy(a) and Jk(a).
To assess the effectiveness of any intervention in preventing or reducing kidney complications or chronic kidney disease in people with SCD (including red blood cell transfusions, hydroxyurea and angiotensin-converting enzyme inhibitor (ACEI)), either alone or in combination with each other.
This study was conducted to assess the markers of oxidative stress, myeloperoxidase (MPO), acetylcholinesterase (AChE) and xanthine oxidase (XO) activities as well as the levels of nucleotide metabolites in sickle cell anemia (SCA) patients.
Tartrate-Resistant Acid Phosphatase 5b in Young Patients With Sickle Cell Disease and Trait Siblings: Relation to Vasculopathy and Bone Mineral Density.
Here we demonstrate that increased adenosine is a novel causative factor contributing to penile fibrosis in two independent animal models of priapism, adenosine deaminase (ADA)-deficient mice and SCD transgenic mice.
Polymorphisms in the genes encoding ADCY9 and β2-AR are associated with response to β2-agonist drugs in patients with asthma, malaria and with sickle cell disease.
These studies validate the clinical usefulness of genomic signatures as potential biomarkers and highlight ADORA2B and GALNT13 as potential candidate genes in SCD-associated elevated TRV.
RHD variation in this SCD cohort differs from that reported for African Americans, with increased prevalence of RHD*DAR and underrepresentation of the DAU cluster.
These findings suggest that SCD patients who are candidates for chronic transfusion may benefit from genotyping for DIIIa and DAR to prevent alloimmunization.
Polymorphisms in the genes encoding ADCY9 and β2-AR are associated with response to β2-agonist drugs in patients with asthma, malaria and with sickle cell disease.
We investigated the potential association between angiotensinogenM235T gene polymorphism and susceptibility to cerebrovascular and cardiopulmonary complications in adolescents with SCD.