Pediatric Clinician's Approach to Benefits and Limitations of Exercise in Children with Sickle Cell Disease and Sickle Cell Trait.

COVID-19 Outcomes in Individuals with Sickle Cell Disease and Sickle Cell Trait Compared to Blacks without Sickle Cell Disease or Trait

Renal Functional Decline in Sickle Cell Disease and Trait.

To describe the family-related characteristics of young adults with sickle-cell disease or sickle-cell trait prior to taking part in a randomised controlled trial on sickle-cell reproductive health education. There is a critical need for educational programmes that target the reproductive needs of young adults with sickle-cell disease or trait. However, little is known about the family-related characteristics (i.e., demographic attributes and reproductive health behaviours) in which these young adults live. A descriptive cross-sectional analysis. At study enrolment, 234 young adults (mean age=25·9years, 65% female) completed the SCKnowIQ questionnaire. Descriptive statistics depict the demographic attributes and reproductive health behaviours of young adults with sickle-cell disease (n=138) or trait (n=96). For group comparisons, independent t tests or Fisher's tests were used, as appropriate. Young adults with sickle-cell trait had significantly higher education, income and health insurance than those with sickle-cell disease. Both groups believed that sickle-cell disease was a severe condition. A majority of young adults with sickle-cell disease (65%) had no children compared to 42% of those with sickle-cell trait. Most young adults (85% sickle-cell disease, 82% sickle-cell trait) were not planning a pregnancy in the next six months, and many used condoms, withdrawal or oral contraceptives. Socioeconomic disparities exist between young adults with sickle-cell disease and sickle-cell trait. Future research that advances education about how and when to communicate appropriate genetic risk information to partners and children especially for young adults with sickle-cell trait would be beneficial. Awareness of the similarities and differences in the family-related characteristics among young adults with sickle-cell disease or trait can allow for more tailored reproductive education.

COVID-19 outcomes in patients with sickle cell disease and sickle cell trait compared with individuals without sickle cell disease or trait: a systematic review and meta-analysis

Is integrating sickle cell disease and HIV screening logical?

The emerging understanding of sickle cell disease.

Sickle Cell Disorders and Severe COVID-19 Outcomes: A Cohort Study

Children with sickle cell anemia and sickle cell trait are at an increased risk of invasive pneumococcal disease compared to children with normal hemoglobin. We assessed and compared pneumococcal vaccination status among these three groups. Children with sickle cell anemia and sickle cell trait were identified using Michigan newborn screening records (1997-2014); each child was matched to four children with normal hemoglobin based on age, Medicaid enrollment (at least 1 year from 2012-2014), race, and census tract. Vaccination records were obtained from the state's immunization system. Pneumococcal vaccine coverage (PCV7 or PCV13 depending on date of administration) was assessed at milestone ages of 3, 5, 7, and 16 months. The proportion of children with vaccine coverage at each milestone was calculated overall and compared among children with sickle cell anemia, sickle cell trait, and normal hemoglobin using chi-square tests. The study population consisted of 355 children with sickle cell anemia, 17,319 with sickle cell trait, and 70,757 with normal hemoglobin. The proportion of children with age-appropriate pneumococcal vaccination coverage was low at each milestone and generally decreased over time. Children with sickle cell anemia were more likely to be covered compared to children with sickle cell trait or normal hemoglobin. Despite higher pneumococcal vaccination coverage among children with sickle cell anemia, opportunities for improvement exist among all children. Targeted interventions will benefit from mechanisms to identify children with increased risks such as sickle cell anemia or trait to improve pneumococcal vaccination coverage among these groups.

Increased Volume and Distinct Pattern of Silent Cerebral Infarcts in Healthy, Young Adults with Sickle Cell Trait

To evaluate feasibility of systematic neonatal screening for sickle cell disease in Chhattisgarh. A pilot study was done from February 2008 through January 2009 in Department of Pediatrics & Neonatology, Pt. J.N.M. Medical College & Dr.B.R.A.M. Hospital, Raipur (Chhattisgarh) on a total of 1,158 neonates. Blood samples from the neonates were taken after 48 h of birth on filter paper for detection of sickle cell anemia using Biorad hemoglobin variant Neonatal sickle cell short programme by high performance liquid chromatography (HPLC). On follow up, cases were analyzed by HPLC using Beta thalassemia short program to rule out false negative case and other hemoglobin variants. Of the 1,158 neonates screened, 628 were boys (54.2%) and 530 were girls (45.8%). Sickle cell disease was found in 3 cases (0.2%) (95%C.I 0.12-0.28), sickle cell trait was found in 68 cases (5.8%) (95%C.I 4.5-7.5). After 6-9 mo of age three cases of sickle cell diseases were reinvestigated, out of which one case turned out to be double heterozygous for sickle cell and beta thalassemia trait. Fourteen preterm neonates reported as normal in initial screening were called for follow up after 6 mo of age, 10 infants reported in OPD and 4 lost in follow up. These 10 infants were reinvestigated; 2 had sickle cell disease, 1 had sickle cell trait and 7 infants were normal. Sixty eight cases of sickle cell trait found with initial screening were also called for follow up after 6 mo of age; 61 cases reported in OPD between 6 mo to 1 y of age and 7 cases lost in follow up. Sixty one infants were reinvestigated; 60 had sickle cell trait and 1 had sickle cell disease which was reported earlier as Sickle cell trait (FAS). Thus on total follow up of cases, there were 5(0.4%) sickle cell disease, 61(5.26%) sickle cell trait, 1(0.08%) double heterozygous for sickle cell and beta thalassemia trait which needs mutation studies for thalassemia characterization (s/β(0) or s/β(+)). Early detection of sickle cell disease (SS) done by neonatal screening will help in early prevention and management of complications in postnatal period.

Retrospective Cohort Study of Sickle Cell Disease and Large Vessel Retinal Vascular Occlusion Risk in a National United States Database

Case presentation An 82-year-old white woman was admitted for an elective right total knee replacement. She was a Jehovah's Witness with sickle cell trait. Her preoperative haemoglobin (Hb) was 10.4 g/dl and electrophoresis revealed sickle Hb (HbS) of 35%. She also had borderline low ferritin levels and was on parenteral iron therapy. She also had hypertension, hypertension-induced renal dysfunction and chronic pulmonary disease. She refused any form of blood transfusion, including re-infusion of shed blood. After discussion with surgical team it was decided to use tourniquet intraoperatively. Prior to induction 125 μg of fentanyl was given to obtund the hypertensive response to intubation. Rapid sequence induction of anaesthesia was conducted with propofol and suxamethonium as patient was obese and had a history of gastroesophageal reflux disease. The airway was secured uneventfully. Anaesthesia was maintained with air, oxygen and sevoflurane. Her end tidal was maintained between 3.9 and 4.2 kPa. Femoral and obturator nerve blocks were performed (with 30 and 5 ml of 0.25% bupivacaine, respectively) using a nerve stimulator. Forty milligrams of atracurium was then given. She had a 300-mmHg tourniquet pressure for nearly 90 min. Her blood pressure was elevated during surgery requiring intravenous labetalol. Postoperatively she did not manifest any painful crisis and her Hb was 8.4 g/dl. She was discharged after 8 days in hospital. Discussion Sickle cell disease is a common blood disorder that has affected millions worldwide. It is caused by inappropriate substitution of valine for glutamine at the sixth position of the β-globin chain. This altered Hb has a low affinity for oxygen and polymerizes to form insoluble crystals which disrupts the structure of the erythrocytes. In the homozygous state (sickle cell anaemia, HbSS) both genes are abnormal whereas in the heterozygous state (sickle cell trait, HbAS) only one chromosome carries the gene.1 Whereas sickle cell disease is associated with significant morbidity in terms of growth and development, renal disease, cerebral infarcts, splenic infarcts and haemolytic anaemia, sickle cell trait is usually asymptomatic and affected individuals have normal life expectancy. When deoxygenated Hb (HbSS) polymerizes, it damages the red cell membrane. Although this is reversible, with repeated sickling this could lead to irreversible damage to red cell membrane. Anaesthetic techniques for patients with sickle cell disease and trait have tended to focus mainly on preventing sickling by avoiding hypoxaemia, acidosis and maintaining body temperature and intravascular volume. The use of tourniquets in sickle cell disease and trait remains controversial, as they cause hypoxaemia, hypercapnoea and lactic acidosis in the isolated limb.2 Therefore, some authorities regard both conditions as definite contraindications for tourniquet application,3 although there are case reports revealing its successful use in patients with sickle cell disease4 and a study carried out revealing no increased evidence of complications when torniquets applied in patients with sickle cell trait.5 There is a case report that has suggested the initiation of sickle cell crisis in patients with sickle cell trait after application of tourniquets,6 and as such their use should be balanced against the risks in sickle cell trait.7 Haematologists regard sickle cell trait as a benign disease with low morbidity. The incidence of sickle cell trait in African–Americans is one in 12. The occurrence under anaesthesia of cerebral thrombosis, and other mishaps including sudden death in these individuals may suggest cause-and-effect but in reality there is no proven association.8 Therefore, from the haematological viewpoint the use of tourniquets in limb surgery is regarded as safe. In our case we believe that nonapplication of tourniquet in her case could be fatal not only because of her refusal of transfusion but also because of increased bleeding risk secondary to hypertension. Furthermore as she was a carrier her risk of going into a crisis was very low. Conclusion Providing anaesthesia to sickle cell disease/trait was considered a challenge and there was currently no consensus in anaesthetics over the use of tourniquets. We believe that although the situation is less clear in sickle cell disease, sickle cell trait should not be considered a contraindication to tourniquet application.

Sickle cell trait and sickle cell disease are thought to be independent risk factors for CKD, but the trajectory and predictors of kidney function decline in patients with these phenotypes are not well understood. Our multicenter, observational study used registry data (collected January 2005 through June 2018) and included adult black patients with sickle cell trait or disease (exposures) or normal hemoglobin phenotype (reference) status (ascertained by electrophoresis) and at least 1 year of follow-up and three eGFR values. We used linear mixed models to evaluate the difference in the mean change in eGFR per year. We identified 1251 patients with sickle cell trait, 230 with sickle cell disease, and 8729 reference patients, with a median follow-up of 8 years. After adjustment, eGFR declined significantly faster in patients with sickle cell trait or sickle cell disease compared with reference patients; it also declined significantly faster in patients with sickle cell disease than in patients with sickle cell trait. Male sex, diabetes mellitus, and baseline eGFR ≥90 ml/min per 1.73 m2 were associated with faster eGFR decline for both phenotypes. In sickle cell trait, low hemoglobin S and elevated hemoglobin A were associated with faster eGFR decline, but elevated hemoglobins F and A2 were renoprotective. Sickle cell trait and disease are associated with faster eGFR decline in black patients, with faster decline in sickle cell disease. Low hemoglobin S was associated with faster eGFR decline in sickle cell trait but may be confounded by concurrent hemoglobinopathies. Prospective and mechanistic studies are needed to develop best practices to attenuate eGFR decline in such patients.

Clinical outcomes of COVID-19 in patients with sickle cell disease and sickle cell trait: A critical appraisal of the literature

Sickle Cell Trait or Sickle Cell Disease Associated with Increased Diabetic Retinopathy Risk.