Introduction: Evidence indicates an increase in the prevalence of enuresis in individuals with sickle cell disease. The present study aims to evaluate the prevalence and impact of enuresis on quality of life in individuals with sickle cell disease. Materials and Methods: This cross-sectional study evaluated individuals with sickle cell disease followed at a reference clinic, using a questionnaire designed to evaluate the age of complete toilet training, the presence of enuresis and lower urinary tract, and the impact on quality of life of these individuals. Results: Fifty children presenting SCD (52% females, mean age ten years) were included in the study. Of those, 34% (17/50) presented as HbSC, 56% with HbSS (28/50), 2% Sα-thalassemia (1/5) and 8% the type of SCD was not determined. The prevalence of enuresis was 42% (21/50), affecting 75% of subjects at five years and about 15% of adolescents at 15 years of age. Enuresis was classified as monosymptomatic in 33.3% (7/21) and nonmonosymptomatic in 66.6% (14/21) of the cases, being primary in all subjects. Nocturia was identified in 24% (12/50), urgency in 20% (10/50) and daytime incontinence 10% (5/50) of the individuals. Enuresis had a significant impact on the quality of life of 67% of the individuals. Conclusion: Enuresis was highly prevalent among children with SCD, and continues to be prevalent throughout early adulthood, being more common in males. Primary nonmonosymptomatic enuresis was the most common type, and 2/3 of the study population had a low quality of life. Abstract source

Introduction: Priapism is the persistent and painful erection of the penis and is a common sickle cell disease (SCD) complication. Aim: The goal of this study was to characterize clinical and genetic factors associated with priapism within a large multi-center SCD cohort in Brazil. Methods: Cases with priapism were compared to SCD type-matched controls within defined age strata to identify clinical outcomes associated with priapism. Whole blood single nucleotide polymorphism genotyping was performed using a customized array, and a genome-wide association study (GWAS) was conducted to identify single nucleotide polymorphisms associated with priapism. Main Outcome Measure: Of the 1,314 male patients in the cohort, 188 experienced priapism (14.3%). Results: Priapism was more common among older patients (P = .006) and more severe SCD genotypes such as homozygous SS (P < .0001). In the genotype- and age-matched analyses, associations with priapism were found for pulmonary hypertension (P = .05) and avascular necrosis (P = .01). The GWAS suggested replication of a previously reported candidate gene association of priapism for the gene transforming growth factor beta receptor 3 (TGFBR3) (P = 2 × 10-4). Clinical Implications: Older patients with more severe genotypes are at higher risk of priapism, and there is a lack of consensus on standard treatment strategies for priapism in SCD. Strengths & limitations: This study characterizes SCD patients with any history of priapism from a large multi-center cohort. Replication of the GWAS in an independent cohort is required to validate the results. Conclusion: These findings extend the understanding of risk factors associated with priapism in SCD and identify genetic markers to be investigated in future studies to further elucidate priapism pathophysiology. Abstract source

https://www.youtube.com/watch?v=F4raFO0e_DU

https://www.youtube.com/watch?v=63pgiclvChc

https://www.youtube.com/watch?v=tSEEZj9omJE

https://www.youtube.com/watch?v=BSTUaeFzpJI

https://www.youtube.com/watch?v=fLh6qDYu37w

Agnes Nsofwa is the Founder and Executive Director of Australian Sickle Cell Advocacy Inc. (ASCA). She is a registered nurse/data analyst by profession, working in the aged care industry. In 2012, Agnes changed careers from Business to nursing so that she could understand SCD and what their child was going through. Agnes also has a bachelor’s degree in business and a diploma in accounting with experiences in the taxation and banking industries. Her passion to advocate for Sickle Cell Disease (SCD) was as a result of having their youngest child being diagnosed with Sickle Cell Anaemia in 2009. In 2014, Agnes and her husband started the SCD awareness Facebook page to support other people affected by this disease. Agnes’ passion is to support programs and initiatives that enhance the lives of people from disadvantaged backgrounds. She also volunteers her time to different projects which raise funds to support scientific research. Online profile

Australian Sickle Cell Advocacy (ASCA) Inc. is an independent not for profit organization dedicated to supporting and representing those affected by Sickle Cell Disease (SCD) in Australia.  ASCA is an organization that provides support to families and individuals of African and other culturally diverse backgrounds that are affected by sickle cell disease (SCD) in Australia.  We are an umbrella organization with chapters and representatives in all States and Territories in Australia. According to the experts, we have about 1000 people affected by SCD. Our vision is to reduce the impact of SCD on all  Australians.  We provide a range of highly valued support services including comprehensive patient information as well as emotional and practical support. We facilitate vital peer to peer connections, co-ordinate a range of support groups nationally and advocate for those affected by SCD on issues such as access to treatments and improved patient services.  Official website

Background: Suboptimal growth and certain metabolic disorders are commonly presented by children with Sickle Cell Disease (SCD). SCD is an autosomal recessive genetic condition common in regions with intense malaria prevalence. The cycles of de-oxygenation and oxygenation of red blood cells producing repeated sickling and unsickling, leading to red cell damage is a concern. There was need to establish the cause of common triggers for Vaso-Occlusive crises which include dehydration, infections, extreme temperature and emotional stress. Recurrent painful episodes, several physical and biochemical disorders including suboptimal growth, low immunity, anemia and a variety of serious organ system complications that cause life-long disabilities and/or early death in HbSS patients was a challenge. The highest frequencies (3 to 4% of populations) of Homozygous Sickle Cell disease occur in Sub-Saharan Africa. Results: The weight, height and BMI decreased significantly (p<0.05) in HbSS children compared with the controls. Plasma levels of GH, cortisol, TT3 and TT4 increased significantly (p<0.05) in HbSS-children compared with controls. Plasma levels of prolactin, TSH and insulin did not show significant (p>0.05) changes in the HbSS children compared with the controls. There was a significant (r=0.46, p=0.04) positive correlation between cortisol and GH in the children with HbSS. A negative correlation (r=-0.45, p=0.045) existed between TT4 and weight of HbSSchildren. Abstract source