Sickle Cell Disease (SCD) is a painful, lifelong hemoglobinopathy inherited as a missense point mutation in the hemoglobin (Hb) beta-globin gene. This disease has significant impact on quality of life and mortality, thus a substantial medical need exists to reduce the vaso-occlusive crises which underlie the pathophysiology of the disease. The concept that a gaseous molecule may exert biological function has been well known for over one hundred years. Carbon monoxide (CO), although studied in SCD for over 50 years, has recently emerged as a powerful cytoprotective biological response modifier capable of regulating a host of physiologic and therapeutic processes that, at low concentrations, exerts key physiological functions in various models of tissue inflammation and injury. CO is physiologically generated by the metabolism of heme by the heme oxygenase enzymes and is measurable in blood. A substantial amount of preclinical and clinical data with CO have been generated, which provide compelling support for CO as a potential therapeutic in a number of pathological conditions. Data underlying the therapeutic mechanisms of CO, including in SCD, have been generated by a plethora of in vitro and preclinical studies including multiple SCD mouse models. These data show CO to have key signaling impacts on a host of metallo-enzymes as well as key modulating genes that in sum, result in significant anti-inflammatory, anti-oxidant and anti-apoptotic effects as well as vasodilation and anti-adhesion of cells to the endothelium resulting in preservation of vascular flow. CO may also have a role as an anti-polymerization HbS agent. In addition, considerable scientific data in the non-SCD literature provide evidence for a beneficial impact of CO on cerebrovascular complications, suggesting that in SCD, CO could potentially limit these highly problematic neurologic outcomes. Research is needed and hopefully forthcoming, to carefully elucidate the safety and benefits of this potential therapy across the age spectrum of patients impacted by the host of pathophysiological complications of this devastating disease. Abstract source Full text

Studies performed in the last decades have highlighted the need to better understand the contribution of the endothelium, vascular function, oxidative stress, inflammation, coagulation, hemolysis and vascular adhesion mechanisms to the pathophysiology of acute vaso-occlusive like events and chronic organ damages in sickle cell disease (SCD). Although SCD is a hemorheological disease, a few works focused on the contribution of blood viscosity, plasma viscosity, red blood cell deformability and aggregation in the pathophysiology of SCD. After a brief description of basic hemorheology, the present review focuses on the role of the hemorheological abnormalities in the causation of several SCD complications, mainly in sickle cell anemia and hemoglobin (Hb) SC disease. Several genetic and cellular modulators of blood rheology in SCD are discussed, as well as unresolved questions and perspectives. Abstract source Full text

Patients with sickle cell disease (SCD) show a high prevalence of red blood cell (RBC) alloimmunization, but few studies have focused on children. We aimed to study the prevalence and risk factors of RBC alloimmunization in SCD children. We retrospectively analysed the medical and transfusion files for 245 SCD children hospitalized in our centre in 2014 and included 175 patients who had received at least one RBC unit in their lifetime. The main clinical and immuno-haematological characteristics of alloimmunized and non-alloimmunized patients were compared. The prevalence of alloimmunization was 13·7% [95% confidence interval (CI) (8·6-18·6)], and 7·4% [95% CI (3·5-11·3)] after excluding the probable irregular natural antibodies (anti-M, anti-Lea , anti-Leb , anti-Lex ). Main risk factors for alloimmunization were increased number of RBC units received (median of 65 vs. 10 units per patient; P = 0·01) and the presence of one or more red cell autoantibodies (46·2% vs. 4·7%; P < 0·0001). The alloimmunization rate was higher for episodically transfused than chronically transfused patients (1·43 vs. 0·24/100 units received; P < 0·001). The presence of red cell autoantibodies appears to be a major risk factor for alloimmunization in SCD children and could justify specific transfusion guidelines. Abstract source Full text

Sickle cell disease (SCD) is associated with pulmonary hypertension (PH) which results in high morbidity and mortality. There are well-established therapies for pulmonary arterial hypertension (PAH), but few reports about their use in SCDPH.2 We report the clinical course of 11 SCDPH patients on maximal supportive therapy including other pulmonary vasodilators, who received compassionate therapy with prostacyclin-analogs at four PH treatment centers. Inclusion criteria for this retrospective study included PH diagnosis by standard right heart catheterization (RHC), and prostacyclin-analog therapy via any route of delivery for at least four weeks. Data were collected subject to availability in the medical record, including type of prostacyclin-analog therapy, maximal dose and duration, and follow-up data at least 100 days after initiating therapy. Statistical analyses were performed using GraphPad Prism version 5.0 (La Jolla, CA, USA), using paired t-test and Pearson product-moment correlation. P<0.05 was considered significant. Abstract source Full text Full text (PMC)

Patients and families affected by various medical conditions report experiencing health-related stigma, which contributes to detrimental physical, psychological, and social outcomes. Sickle cell disease (SCD) is a genetic disorder that affects 89,000 individuals in the United States and is often associated with negative stereotypes and incorrect assumptions. The present study explored the perception of stigma as reported by caregivers of adolescents with SCD. DESIGN AND METHODS: Focus groups were conducted with 20 caregivers of patients with SCD. Focus groups were audio recorded and transcribed. The data were coded independently by two authors, and then reviewed conjointly until consensus was reached. RESULTS: Caregivers reported the perception of stigma in academic, medical, community, and family settings. They also reported internalized stigma including negative feelings toward having a child with SCD, feeling upset with others, and seeing negative emotions in their child due to SCD. Caregivers reported a general lack of knowledge about SCD across settings. CONCLUSION: These results demonstrated that stigma may affect individuals with SCD across multiple settings. These results also highlighted areas for intervention, with a focus on increasing communication and education toward medical providers, schools, and communities. PRACTICAL IMPLICATIONS: Interventions can utilize technology, social media, and advertisement campaigns. Additionally, support groups for patients with SCD may help decrease stigma and validate patients' experiences. Abstract source Full text

What should someone with sickle cell trait or sickle cell disease do if he or she is planning to have a baby? • A woman and her partner should get tested for SCT if they are planning to have a baby. • Testing is available at most hospitals or medical centers, from SCD community-based organizations, or at local health departments. • If a woman or her partner has SCT, a genetic counselor can provide additional information and further discuss the risks to their children. Will someone with sickle cell trait or sickle cell disease have a baby with sickle cell disease or sickle cell trait? • During pregnancy, prenatal testing can be done to find out if a baby will have SCD, SCT, or neither one. • The prenatal tests chorionic villus sampling (CVS) and amniocentesis often are used to find out if the baby will have the disease or carry the trait. These tests usually are conducted after the second month of pregnancy. Abstract source

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Wanda Borders is a licensed Social Worker who has spent the last 23 years working with individuals and families affected by Sickle Cell Disease. She has worked with SCDAA Birmingham, Alabama community-based program as the Social Services Director, Education Outreach Coordinator and Assistant Director. Wanda has helped the Central Alabama program accomplish many milestones such as raising one million dollars to fund an Adult Comprehensive SC Clinic that is currently fully staffed; also advocating and getting a specialty Sickle Cell Awareness license plate in Alabama in 2015. She was awarded the Cecil L. Parker Distinguished Lectureship Award for her Keynote Address given during the University South Alabama annual Sickle Cell conference organized by Dr. Johnson Haynes. She continues to advocate on a local and national basis for those directly impacted. She is currently teaching 11th grade Social Studies and actively consults with Social Service organizations and the National Sickle Cell Association. She is married with two young adult sons in college. Her dog named Bentley is her barking baby boy. Online profile

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