Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia

Sleep disordered breathing does not predict acute severe pain episodes in children with sickle cell anemia

“…Despite having results contrary to our hypothesis, we believe our results are credible for the following reasons: 1) consistency of our findings with the two other prospective cohort studies demonstrating that mean daytime SpO2 was not associated with increased incidence rates of pain 4,6 ; 2) the incidence rates of acute pain episodes requiring hospitalization of 0.80 events per patient year (including patients receiving disease modifying therapy, N= 204) was similar to two large cohorts of children with SCA, the SIT Trial (n=934) and the Cooperative Study of Sickle Cell Disease (n=349), 0.61 and 0.58 per patient year, respectively 15 ; 3) rigorously obtained PSG evaluations with central adjudication in 140 children followed for 5 years coupled with the prevalence of sleep disordered breathing in this cohort being similar to the range of sleep characteristics in African-American children without SCA. 16…”

Children with HbSβ0 thalassemia have higher hemoglobin levels and lower incidence rate of acute chest syndrome compared to children with HbSS

“…Our study did not include children with previous history of overt strokes and known history of abnormal TCD velocities. However, the incidence rates of pain (0.58 and 0.61 events per year, SIT and CSSCD, respectively) and ACS (0.13 and 0.18 events per year, SIT and CSSCD, respectively), as well as laboratory values of children enrolled in the SIT trial (n = 934), have been shown to be clinically similar to those of individuals in the CSSCD (n = 349) . Based on similar clinical and laboratory features between the SIT cohort and an unselected cohort in the CSSCD, we believe that our results are generalizable to the population of children with HbSβ 0 thalassemia and HbSS.…”

Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon

“…The possible poor definition of VOC is also tempered by its strong association with the use of health services, which was more objectively assessed; validating, to some extent, the use of such cost‐effective patient reported outcomes for genetic association study. A recent genome‐wide association study, which included only VOC episodes requiring hospitalisation, found that KIAA1109 ‐rs3115229 approached genome‐wide significance in a locus associated with auto‐inflammatory disorders (Chaturvedi et al , ). Therefore, the present study represents an important step forward in understanding clinical and genetic predictors of VOC in sub‐Saharan Africa and globally.…”