Patients with sickle cell disease (SCD) experience high rates of chronic pain, and have a high burden of mental health comorbidities shown to negatively influence health. There is limited research on substance use among individuals with SCD. Objective: The aim of this study is to measure the prevalence of substance use in patients with SCD and determine whether psychosocial or clinical risk factors are associated with substance use. Methods: This study was conducted as part of an observational study of patients with SCD at two academic medical centers. We asked participants (ages 15 and older) about the lifetime use of heroin, cocaine, amphetamines, and marijuana/cannabis. We measured stigma, depression, urban life stress, pain catastrophizing, and asked about a brief pain inventory. Results: Of 258 participants, 24.9% (n = 71) reported substance use. Marijuana was the most common substance used (22.5%; n = 65). The mean depressive score met criteria for positive screen amongst individuals who reported a history of substance use (mean 10.7(5.76)). Adjusting for age, sex, yearly family income, and education level, odds of substance use increased with higher levels of internalized stigma (aOR: 1.38; 95% CI: 1.07, 1.77; p = 0.012); higher urban life stress scores (aOR 1.06; 95% CI: 1.01, 1.12; p = 0.017) and higher pain catastrophizing scores (aOR: 1.03; 95% CI: 1.01, 1.06; p = 0.008). Conclusions: Among individuals with SCD who endorse substance use, there was markedly more stress and distress with higher rates of depression and poorer quality of life. Interventions focusing on improving distress tolerance and coping to not only pain, but also social stressors, might reduce substance use. Abstract source

This paper aims to analyze the published scientific production about the participation of the sickle cell disease (SCD) subjects and their relatives, and the autonomy and social aspects of these individuals. A qualitative bibliographic search with the Portuguese-equivalent keywords “sickle cell disease” and “participation” was used. As a result, the following themes appeared: Experience of illness, highlighting coexistence and ethnic-racial issues; Participation in research and the perspective of health professionals on SCD; and Autonomy of cohabitants and decision-making. We can conclude that the promotion of the participation of these patients in the studies, either instrumentally, or to contextualize the results better, or – still – to enrich the authors’ conclusions, can intentionally or unintentionally contribute to the greater visibility of the problem that involves being a SCD cohabitant for the subjects and their relatives. The duty to analyze intersectionally the entire context of the patient and his family context is also highlighted. Abstract source

When he was only seven, and on holiday at the Kenyan coast with his family, young Etemesi Ochola felt an unfamiliar pain in his right hand. He couldn’t move it. His worried parents would then rush him to hospital when he couldn’t even bend the limb. “Several tests were performed on me and the results showed that I had sickle cell anaemia,” Ochola, now 35, explains. “On coming back to Nairobi from holiday, the pain worsened. It was too much I had to be admitted at the hospital for them to manage it,” he recalls. His uncle also had the condition, and it was his counsel the family would count on a lot to understand what was happening. In most cases, many, about 50 to 80 per cent of those diagnosed with the disease, die before reaching adulthood. A study by WHO indicates that sickle cell anaemia is associated with a very high rate of deaths among children in Africa.   Abstract source

Proliferative sickle cell retinopathy (PSR) is a vision-threaten-ing complication of sickle cell disease (SCD). Ischemic events in the retina stimulate angiogenesis, resulting in retinal neovascularization. SCD is caused by a mutation in the HBB gene, which encodes hemoglobin beta. PSR affects up to 40% of hetero¬zygous (HbSC) patients and 20% of homozygous (HbSS) patients. Although most patients remain visually asymptomatic, the incidence of visual loss among patients with HbSS and HbSC affected by PSR has been reported as 31 per 1,000 eyes compared with 1.4 per 1,000 in eyes with nonproliferative disease.   Abstract source

The completion of the Human Genome Project and the use of CRISPR/Cas9 for gene editing have begun to transform the diagnosis and management of the disease. Sickle cell disease has been considered a perfect model for genomic research because it is a monogenic disease that is common and causes substantial morbidity and mortality but has no cure. The recent use of gene editing to modify disease severity and a case report of a patient with sickle cell disease who received successful treatment with gene therapy highlights the potential for translating genome-based knowledge into health benefits. But will these advances benefit patients in Africa where the burden is high? Sub-Saharan Africa has an estimated 64% of the 300 000 people born annually with sickle cell disease in the world, mortality is high, and few effective interventions have been introduced. World Sickle Cell Day on June 19, 2017, provides an opportunity to examine progress and persistent challenges in Africa. Abstract source

Sickle cell disease is caused by a small or point mutation in the hemoglobin molecule that is found in red blood cells (RBCs). Hemoglobin and the RBCs are important for carrying oxygen throughout the body in blood vessels. Because of the mutation, the hemoglobin makes polymers in the RBCs, which causes them to become rigid and abnormally shaped. Often RBCs appear sickle-shaped, giving the disease its name. These sickle RBCs (sRBCs) get stuck in blood vessels in retina and in many other organ systems, causing the tissue to become ischemic. Dr. Lutty's lab has developed a rat animal model for the occlusions caused by sRBCs in which human donor's sRBCs are labeled with a fluorescent dye and injected into the blood of a rat. The number of cells that get stuck in retina can be counted at the end of the experiment, allowing therapies to prevent them from getting stuck to be evaluated. Abstract source

Sickle cell disease (SCD) patients display skeletal muscle hypotrophy, altered oxidative capacity, exercise intolerance and poor quality of life. We previously demonstrated that moderate‐intensity endurance training is beneficial for improving muscle function and quality of life of patients. The present study evaluated the effects of this moderate‐intensity endurance training program on skeletal muscle structural and metabolic properties. Of the 40 randomized SCD patients, complete data sets were obtained from 33. The training group (n = 15) followed a personalized moderate‐intensity endurance training program, while the non‐training (n = 18) group maintained a normal lifestyle. Biopsies of the vastus lateralis muscle and submaximal incremental cycling tests were performed before and after the training program. Endurance training increased type I muscle fiber surface area (P = .038), oxidative enzyme activity [citrate synthase, P  < .001; β‐hydroxyacyl‐CoA dehydrogenase, P = .009; type‐I fiber cytochrome c oxidase, P = .042; respiratory chain complex IV, P = .017] and contents of respiratory chain complexes I (P = .049), III (P = .005), IV (P = .003) and V (P = .002). Respiratory frequency, respiratory exchange ratio, blood lactate concentration and rating of perceived exertion were all lower at a given submaximal power output after training vs non‐training group (all P  < .05). The muscle content of proteins involved in glucose transport and pH regulation were unchanged in the training group relative to the non‐training group. The moderate‐intensity endurance exercise program improved exercise capacity and muscle structural and oxidative properties. Abstract source

“You don’t look sick.” That’s something I hear all the time. It's hard to get people to understand that I don’t look like what I’m going through. I have sickle cell disease, a complex genetic blood disorder that affects the shape of red blood cells. People with sickle cell disease inherit an abnormal hemoglobin gene that prevents the proper delivery of oxygen to the body’s organs, which is why the form of the disease I have is also referred to as sickle cell anemia. The disease is characterized by unpredictable, severe, and painful events known as “sickle-cell pain crises.” Related story

Whenever I shared other people’s distinctive journeys with sickle cell, I am astonished at how our stories are so different. I mean in terms of complications. One thing I have noticed with most people who suffer from one disease or another, in the African continent, is that faith plays a major role in their ability to make sense of their sickness. Faith becomes an anchor when one has asked all manner of inexhaustible questions about why one has such a disease. However, issues about pain, management and looking after oneself are the same for anyone living with sickle cell. Related story

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