Approximately 70,000 to 100,000 Americans have sickle cell disease, the most common form of an inherited blood disorder that causes the production of abnormal hemoglobin, a protein that attaches to oxygen in the lungs and carries it to all parts of the body. Healthy red blood cells are flexible so that they can move through the smallest blood vessels. In sickle cell disease, the hemoglobin is abnormal, causing the red blood cells to be rigid and shaped like a "C" or sickle, the shape from which the disease takes its name. Sickle cells can get stuck and block blood flow, causing pain and infections. Complications of sickle cell disease are a result of sickle cells blocking blood flow to specific organs, and include stroke, acute chest syndrome (a condition that lowers the level of oxygen in the blood), organ damage, other disabilities, and in some cases premature death. In order for you or your child to inherit sickle cell disease, both parents must have either sickle cell disease (two sickle cell genes) or sickle cell trait (one sickle cell gene). There are variations of sickle cell disease called sickle C or sickle thalassemia, which are serious conditions but are sometimes less severe. If you have sickle cell disease, you will pass one sickle cell gene to your children. Abstract source

What is sickle cell disease? Sickle cell disease is an inherited blood disorder characterized by defective hemoglobin (a protein in red blood cells that carries oxygen to the tissues of the body). Sickle cell disease involves the red blood cells, or hemoglobin, and their ability to carry oxygen. Normal hemoglobin cells are smooth, round, and flexible, like the letter "O," so they can move through the vessels in our bodies easily. Sickle cell hemoglobin cells are stiff and sticky, and form into the shape of a sickle, or the letter "C," when they lose their oxygen. These sickle cells tend to cluster together, and cannot easily move through the blood vessels. The cluster causes a blockage in small arteries or capillaries and stops the movement of healthy, normal oxygen-carrying blood. This blockage is what causes the painful and damaging complications of sickle cell disease.   Abstract source

While all states require newborn screening for every infant, the number of conditions on state screening panels vary. Each state public health department decides which conditions are coded on its panel. They also develop and manage each state's newborn screening program, which is designed to ensure that babies with out-of-range screening results are notified and receive diagnostic testing and follow-up care. RUSP conditions by state: Newborn screening is an evolving public health system that varies throughout the country. Focusing on conditions on the Recommended Uniform Screening Panel (RUSP) list, we're working with states to keep you up-to-date on what is screened where. We've put together an interactive map that shows a high-level view of which states support screening for the various RUSP conditions. View the interactive map here. Abstract source

The Sickle Cell Transition E-Learning Program (STEP) consists of videos designed as educational modules with interactive pre and post quizzes. The series is designed to help teens with sickle cell disease successfully transition to adult medical care. The video above (Module 1) is an example of the educational modules. Each module discusses different topics. The videos are not intended to take the place of the care and attention of your personal doctor. Our aim is to promote active participation in your care and treatment by providing information and education. Questions about individual health concerns or specific treatment options should be discussed with your doctor. The program was funded by St. Jude Children’s Research Hospital, ALSAC and a grant from the Verizon Foundation. Abstract source

Millions of people find themselves in a hospital emergency room each year. You never know when it will happen to you. Whether you dial 9-1-1 and ride by ambulance, or if a friend or loved one rushes you there, a trip to the emergency room is a frightening proposition. Spend some time reading these tips for safe and effective care in the ER. They may give you enough confidence to reduce the amount of wear and tear on your nerves. They may even shorten your stay, or help you get better care than you might receive otherwise. In the Ambulance: In a life-or-death emergency, you'll want to be taken to the nearest hospital that treats whatever problem you seem to be having. For example, if you are in a bad car accident, you'll want to be taken to a trauma center. If you think you're having a stroke, you'll want to find the nearest facility that knows how to care for stroke patients. Most ambulance services are staffed by EMTs (Emergency Medical Technicians) who are trained to know enough about whatever medical problem causes the emergency that they know where to take you. Let them make the decision as to where you'll get the best care. Abstract source

Patients with sickle cell disease (SCD) manage most pain symptoms or events at home without seeking medical help (Smith et al, 2008). Thus, to have the largest impact on patients’ functioning and quality of life, we should focus more on assessment and treatment of daily pain rather than episodic acute pain that requires emergent care (Amr et al, 2011). We need innovative approaches to better understand daily pain patterns and factors associated with changes in pain intensity and frequency. In the current study, we use a mobile e-diary app to describe day-to-day patterns in SCD-related pain symptoms and identify the clinical and demographic factors associated with differences in daily pain level among adult patients with SCD. Three sickle cell centres, located in large urban medical centres, used the sickle cell Mobile Application to Record symptoms via Technology (SMART) for ongoing studies. This study combines data from two independent clinical trials with similar daily pain tracking protocols (NCT01833702, NCT02384590). The trial conducted at University of Pittsburgh (Pitt) and Vanderbilt University (Vanderbilt) asked participants to use SMART for at least 6 months, while the clinical study at Duke University (Duke) asked participants to use the app for at least 1 month. Eligible participants were all aged >=18 years with a confirmed diagnosis of SCD. Abstract source Full text

Background: A treatment algorithm for sickle cell disease (scd) pain in adults presenting to a single emergency department (ed) was developed prioritizing initiation of patient controlled analgesia (pca) for patients awaiting hospitalization. Objectives: Evaluate the proportion of ed visits in which pca was started in the ed. Methods: A two-year retrospective chart review of consecutive scd pain ed visits was undertaken. Data abstracted included pca initiation, low versus high utilizer status, pain scores, bolus opioid number, treatment times, and length of hospitalization. Results: 258 visits resulted in hospitalization. Pca was initiated in 230 (89%) visits of which 157 (68%) were initiated in the ed. Time to pca initiation was longer when pca was begun after hospitalization versus in the ed (8.6 versus 4.5 hours, p < 0.001). Ed pca initiation was associated with fewer opioid boluses following decision to admit and less time without analgesic treatment (all p < 0.05). Mean pain intensity (mpi) reduction did not differ between groups. Among visits where pca was begun in the ed, low utilizers demonstrated greater mpi reduction than high utilizers (2.8 versus 2.0, p = 0.04). Conclusions: Ed pca initiation for scd-related pain is possible and associated with more timely analgesic delivery. Abstract source Full text Full text (PMC)

Sickle cell disease (SCD)-patients experience recurrent vaso-occlusive episodes (VOE), which are associated with severe pain. While opioids are the mainstay of analgesic therapy, in some SCD patients, increasing opioid use is associated with continued and increasing pain. Recently, dexmedetomidine, a specific α2-adrenoreceptor agonist with sedative and analgesic properties, has been used clinically and shown to reduce opioid requirement and to facilitate opioid withdrawal. We report three patients admitted for severe pain associated with VOEs, who after failing to respond to high-dose opioid and sub-anesthetic dosing of ketamine, were treated with dexmedetomidine. For comparison, we reviewed four additional SCD patients who were admitted for VOEs and treated with opioids and sub-anesthetic doses of ketamine at the same time but had not received dexmedetomidine. In the patients receiving dexmedetomidine, the reasons to initiate infusions included ineffective pain management and the clinical concern for opioid-induced hyperalgesia. Dexmedetomidine infusions doses ranged from 0.2-1μg/kg/h and lasted three to six days. All three patients received transdermal clonidine post-infusion. Dexmedetomidine was associated with marked reduction in daily morphine equivalent intake and decreases in Visual Analog Scale (VAS, 1-10) scores. In the patients receiving dexmedetomidine, the pre-infusion range of morphine equivalent was 2mg-5.75mg/k/d and post infusion ranged from 0-0.87mg/k/d. The VAS ranges pre-infusion were 8-10 and post-infusion 2-6. No adverse effects were identified related to dexmedetomidine including hemodynamic changes requiring vasoactive or anticholinergic agents. We acknowledge the limitations in this report and recognize that in the absence of a control arm and from very few patients we are unable to draw conclusions about safety and efficacy of dexmedetomidine in SCD pain. Thus, given the anecdotal reports of the use of dexmedetomidine in SCD patients with VOEs, including those reported here, dexmedetomidine should be further investigated in SCD patients. Abstract source

The CYP2C8 and CYP2C9 variant alleles play a significant role in NSAIDs analgesic effect and toxicity. NSAIDs are used to treat vasoocclusive pain at the prodromal stage in sickle cell disease (SCD) patients. We describe CYP2C8 and CYP2C9 genotypes and phenotypes and frequency of emergency department (ED) visits in an African American SCD patient cohort. DNA from 165 unrelated SCD patients (82 males/83 females, aged from 16 to 61 years) was genotyped for seven CYP2C8 (*1, *2, *3, *4, *5, *7 & *8) alleles and 15 CYP2C9 alleles (*1, *2,*3, *4, *5, *6, *8, *9, *10, *11, *12, *13, *15, *25 & *27) using the iPLEX® ADME PGx multiplexed panel. CYP2C8 *1(0.806),*2(0.164),*3(0.018), and *4 (0.012) alleles were identified. Genotype frequencies were distributed as homozygous wild-type (66.7%), heterozygous (27.8%), and homozygous variant/compound heterozygous (5.4%) respectively. CYP2C9 *1(0.824), *2 (0.027), *3 (0.012), *5 (0.009), *6 (0.009), *8 (0.042), *9 (0.061), and *11(0.015) were observed with extensive (68.5%), intermediate (18.1%) and poor predicted metabolizers (0.6%) respectively. Ten of twelve of the combined alleles of the CYP2C8 and CYP2C9 enzymes identified in our cohort contribute to deficient metabolic genotypes. Fifty-two subjects had at least one variant CYP2C9 allele associated with either the intermediate metabolizer, poor, or indeterminate phenotype. Fifty-five subjects had at least one CYP2C8 variant allele that contributes to impaired metabolic genotypes. Unlike the CYP2C9 (p= 0.0515), the distribution of CYP2C8 phenotypes was not significantly different in high and low ED users (p= 0.1668); but some CYP2C8 and CYP2C9 allelic combinations observed in 15.2% (25) of the cohort are associated with higher risks for analgesic failure or exacerbation of SCD related morbidity. Data on the association of NSAIDs treatment with analgesic failure are limited for SCD patients. CYP2C8 and CYP2C9 preemptive genotyping may facilitate early prediction of efficacy of NSAID treatment outcomes. Abstract source

Tamara Nicole New, MD works as Assistant Professor in the Pediatrics Department of Emory University School of Medicine. She completed her medical education from Mount Sinai School of Medicine, residency from Robert Wood Johnson University Hospital, and fellowship from New York Presbyterian Hospital, Columbia. Tamara Nicole has authored/co-authored at least 2 publications and 8 journal articles.   Primary Affiliation Center:

• Aflac Cancer and Blood Disorders Center (Aflac) →

  Other Affiliate Centers:

• Center for Clinical and Translational Research (CCTR) →
• Clinical Outcomes Research & Public Health (CORPH) →

  Areas of Interest: - Sickle cell anemia - Benign hematology - Pulmonary hypertension and other pulmonary complications in sickle cell anemia - Multi-specialty team approach to pain Online profile