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 In A 1st, Doctors In U.S. Use CRISPR Tool To Treat Patient With Sickle Cell Disease

or the first time, doctors in the U.S. have used the powerful gene-editing technique CRISPR to try to treat a patient with a genetic disorder.

“It is just amazing how far things have come,” says Victoria Gray, 34, of Forest, Miss. “It is wonderful,” she told NPR in an exclusive interview after undergoing the landmark treatment for sickle cell disease.

Gray is the first patient ever to be publicly identified as being involved in a study testing the use of CRISPR for a genetic disease.

“I always had hoped that something will come along,” she says from a hospital bed at the Sarah Cannon Research Institute in Nashville, Tenn., where she received an infusion of billions of genetically modified cells. “It’s a good time to get healed.”

“I always had hoped that something will come along,” she says from a hospital bed at the Sarah Cannon Research Institute in Nashville, Tenn., where she received an infusion of billions of genetically modified cells. “It’s a good time to get healed.”

Billy Garrett Jr., the only NBA player with sickle cell disease, is an inspiration

Garrett: ‘It’s like a double whammy. Making it to the league and doing it with the disease. I hope it’s an inspiration to a lot of the kids with sickle cell.’ About 100,000 Americans are affected by sickle cell disease, according to the Centers for Disease Control and Prevention.

Around 500 athletes play in the NBA each season.

As the only known person to have played in the NBA with sickle cell disease, DePaul/Morgan Park alum Billy Garrett Jr. knows what it’s like to have both worlds intertwined.

“[Playing in the NBA is] something I’ve wanted since I was younger and something I’ve constantly been told I can’t do because of the sickle cell,” Garrett said Saturday during the Sickle Cell Disease Association of Illinois’ 45th annual 8K Walk/Jog/Bike-A-Thon fundraiser. “It’s like a double whammy. Making it to the league and doing it with the disease. I hope it’s an inspiration to a lot of the kids with sickle cell.”

UK Guide to Sickle Cell Work and Employment for Employers and Employees

Just to let you know that following some final consultations at the Sickle Cell Society AGM this past week-end, the Guide to Sickle Cell Work and Employment for Employers and Employees has been uploaded to the project web-site It has been sent for printing and hard copies should be available in September.

Articles in the medical literature

1.Adv Emerg Nurs J. 2019 Jul/Sep;41(3):261-270. doi: 10.1097/TME.0000000000000256.Improving the Care of Individuals With Sickle Cell Disease in the Emergency Department Using a Quality Improvement Framework: The Emergency Department Sickle Cell Assessment of Needs and Strengths (ED-SCANS).Brennan-Cook J1Bonnabeau EHarris-Bloom HTanabe P.AbstractSickle cell disease (SCD) is a severe chronic disease that leads to premature mortality caused by serious complications of the disease such as acute chest syndrome, stroke, and sepsis. Patients presenting to the emergency department (ED) with pain due to vaso-occlusive crisis (VOC) are at a higher risk for complications, making it imperative that emergency nurses, nurse practitioners, and physicians are knowledgeable about SCD and understand the other associated complications besides VOC. Because of the complexity of disease and misperceptions about SCD among ED nurses, physicians, and nurse practitioners, a quality improvement (QI) framework for treatment of adults with SCD in EDs was developed. The Emergency Department Sickle Cell Assessment of Needs and Strengths (ED-SCANS) is a research-based QI framework consisting of 7 distinct algorithms that serve to guide all ED team members in assessment and management of the complexity of care that patients with SCD require.
PMID: 31356252
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2.J Pediatr (Rio J). 2019 Jul 24. pii: S0021-7557(19)30053-1. doi: 10.1016/j.jped.2019.05.004. [Epub ahead of print]Analgesic management of uncomplicated acute sickle-cell pain crisis in pediatrics: a systematic review and meta-analysis.Saramba MI1Shakya S1Zhao D2.AbstractOBJECTIVES:To capture evidence of the efficacy and safety of pharmacological analgesia for uncomplicated acute sickle-cell pain in pediatric patients compared to placebo.SOURCES OF DATA:Searches for key evidence were performed from March 1 to 31, 2018, for randomized controlled trials of pharmacological analgesia compared to placebo for uncomplicated acute sickle-cell pain in a pediatric sample. The authors searched ten scientific databases including, among others, PubMed, MEDLINE, Embase, and for this systematic review and meta-analysis.SUMMARY OF THE FINDINGS:Four trials (n = 227) were selected by the inclusion criteria (intranasal fentanyl, intravenous magnesium, arginine, and inhaled nitric oxide). The quality of evidence ranged from low to moderate for each outcome. Meta-analysis of changes in the ladder of pain score (p = 0.72), length-of-stay in hospital (p = 0.65), and amount of narcotics used during the study (p = 0.10) showed non-statistically significant differences and a lack of amelioration provided by pharmaceutical analgesics in treatment group. The adverse events reported that more participants in the intervention arm underwent pain, with statistically significant differences at the drug delivery site in studies using intranasal fentanyl and intravenous magnesium (p = 0.03).CONCLUSIONS:Pharmacological analgesia appears to be uncertain in improving the intensity and providing relief of acute pain crisis in pediatric patients with sickle-cell anemia. With respect to clinical advantage, no decisive deduction about the clinical efficacy may be made regarding these medications in acute sickle-cell pain management in the pediatric age group.Copyright © 2019. Published by Elsevier Editora Ltda.Free Article
PMID: 31351033
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3.Sci Rep. 2019 Jul 26;9(1):10896. doi: 10.1038/s41598-019-47313-2.Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence.Cruz PRS1Ananina G1Gil-da-Silva-Lopes VL2Simioni M2Menaa F1Bezerra MAC3Domingos IF3Araújo AS4Pellegrino R5Hakonarson H5Costa FF6de Melo MB7.AbstractGenetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. Here we propose to explore ancestry and population structure in a genome-wide study with particular emphasis on chromosome 11 in two SCA admixed cohorts obtained from urban populations of Brazil (Pernambuco and São Paulo) and the United States (Pennsylvania). Ancestry inference showed different proportions of European, African and American backgrounds in the composition of our samples. Brazilians were more admixed, had a lower African background (43% vs. 78% on the genomic level and 44% vs. 76% on chromosome 11) and presented a signature of positive selection and Iberian introgression in the HbS region, driving a high differentiation of this locus between the two cohorts. The genetic structures of the SCA cohorts from Brazil and US differ considerably on the genome-wide, chromosome 11 and HbS mutation locus levels.Free Article
PMID: 31350437
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4.Blood Adv. 2019 Aug 13;3(15):2244-2249. doi: 10.1182/bloodadvances.2019000381.Clinical meaning of PROMIS pain domains for children with sickle cell disease.Singh A1Panepinto JA1,2.AbstractThe Patient Reported Outcomes Measurement Information System (PROMIS) pain interference and pain behavior domains are valid and reliable for children with sickle cell disease (SCD). However, clinical interpretation of the scores is unknown. The objective of this study was to determine the clinical meaning of PROMIS pain scores for children with SCD. We used 2 approaches to determine clinical meaning: dichotomization of item responses and T-score ranges. T-score ranges determined thresholds for no/mild, moderate, and severe pain. We compared the proportion of patients who needed pain medications among pain severity groups using χ2/Fisher’s exact tests. The study included 117 children (mean age, 11.5 years [standard deviation, 2.9 years]). Using the dichotomization approach, 43 children had pain interference T-scores ≤48 reflecting minimal pain, and 30 children had T-scores >60 reflecting substantial pain. For pain behavior, 34 children had T-scores ≤41 reflecting minimal problems, and 23 patients had T-scores >57 reflecting substantial problems with pain. Using T-score ranges, clinical thresholds of no/mild and severe pain interference were determined as ≤48.3 and >63.6, respectively. The thresholds for no/mild and severe pain behavior were ≤41.3 and >57.3, respectively. Overall, the proportion of patients who took pain medications was significantly different among those with no/mild, moderate, and severe pain as identified by pain interference (P = .002) and pain behavior domains (P = .0113). We identified T-scores for PROMIS pain domains that facilitate clinical interpretation and provide necessary information for PROMIS users in a clinical setting.© 2019 by The American Society of Hematology.Free Article
PMID: 31345791
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5.Pharmacoepidemiol Drug Saf. 2019 Jul 22. doi: 10.1002/pds.4860. [Epub ahead of print]National trends in hydroxyurea and opioid prescribing for sickle cell disease by office-based physicians in the United States, 1997-2017.Su ZT1Segal JB1,2Lanzkron S3Ogunsile FJ3.AbstractPURPOSE:To identify trends in physician drug prescribing practices for sickle cell disease (SCD).METHODS:We used data from the National Disease and Therapeutic Index to evaluate medications prescribed to children (definition: aged 19 years or younger) and adults (20 years or older) with SCD by office-based physicians in the United States during 1997 to 2017. Prescriptions were evaluated in 3-year intervals.RESULTS:The proportion of SCD visits that included new/continued hydroxyurea prescriptions increased from less than or equal to 8% before 2009 to 33% in 2015 to 2017. The increase was significant in visits by children (2.5% in 1997-1999 to 47% in 2015-2017; P = .003 by Spearman’s rank-order correlation) but not in adults (6.9% to 11%; P = .12). Opioids, started/continued in 13% (lowest 3-year average) to 35% (highest) of visits by children and 55% to 81% of visits by adults, remained the most frequently prescribed medications for SCD overall. There were no significant changes over time in opioid prescribing for adults (P = .64) or children (P = .38). Hematologists/oncologists accounted for a higher proportion of visits by children (67.2% over 1997-2017) than adults (25.2%), while emergency medicine visits were higher in adults (14.0%) than children (2.6%).CONCLUSIONS:This study suggests a robust increase in hydroxyurea prescribing for children with SCD. The BABY HUG trial, which demonstrated safety and efficacy of starting hydroxyurea in infancy and informed current SCD guidelines recommending broader use in children, may have contributed to this increase. However, hydroxyurea prescribing for adults remains infrequent and considerably lower than opioids. Barriers in access to specialist care persist for adults with SCD.© 2019 John Wiley & Sons, Ltd.
PMID: 31328369
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6.Transfus Apher Sci. 2019 Jul 9. pii: S1473-0502(19)30135-1. doi: 10.1016/j.transci.2019.04.029. [Epub ahead of print]Chronic pain persists in adults with sickle cell disease despite regular red cell transfusions.Karafin MS1Mullins DE2Johnson ST3Nischik D4Feng M5Simpson P5Field JJ6.AbstractBACKGROUND:Pain affects over 50% of adults with sickle cell disease (SCD), and this pain is largely managed outside of the hospital. While chronic transfusion therapy is used to decrease the rate of acute pain events in patients with SCD, less is known about its impact on the day-to-day experience of pain. To address this knowledge gap, we provided pain diaries to patients with SCD receiving chronic transfusion.PATIENTS AND METHODS:A convenience sample of chronically-transfused adults with SCD successfully completed a diary over the course of at least 2 transfusion events. Patients receiving simple transfusions and red cell exchanges were included. Pain was rated on a scale of 0 to 10 each day, and patient laboratory values, co-morbidities, and hospital utilization were also obtained using the electronic medical record. The mean pain scores pre- and post-transfusion were evaluated using both a random effects-expectation maximization regression tree analysis and a generalized linear mixed regression model.RESULTS:Ten subjects (63%) in this cohort were defined as having chronic pain, while the remaining four (27%) subjects had episodic pain. Despite chronic transfusion and a suppressed HbS% (22.5% (16.5-25.9)), 10 patients (63%) continued to report nearly daily pain, and on almost 70% of diary days, the pain was significant (≥5/10). When the relationship between HbS% and reported pain intensity was examined, no association was found.DISCUSSION:These results suggest that, even with regular transfusions and a low HbS%, daily pain persists in many adults with SCD.Copyright © 2019 Elsevier Ltd. All rights reserved.
PMID: 31326289
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7.Hum Mol Genet. 2019 Jul 19. pii: ddz172. doi: 10.1093/hmg/ddz172. [Epub ahead of print]Gene therapy of hemoglobinopathies: progress and future challenges.Ikawa Y1Miccio A2,3Magrin E4,5Kwiatkowski JL1,6Rivella S1,6,7,8Cavazzana M3,4,5,9.AbstractRecently, gene therapy clinical trials have been successfully applied to hemoglobinopathies, such as sickle cell disease (SCD) and β-thalassemia. Among the great discoveries that led to the design of genetic approaches to cure these disorders is the discovery of the β-globin locus control region (LCR) and several associated transcription factors, which determine hemoglobin switching as well as high-level, erythroid-specific expression of genes at the ß-globin locus. Moreover, increasing evidence shows that lentiviral vectors (LVs) are efficient tools to insert large DNA elements into nondividing hematopoietic stem cells, showing reassuring safe integration profiles. Alternatively, genome editing could restore expression of fetal hemoglobin or target specific mutations to restore expression of the wild-type β-globin gene. The most recent clinical trials for β-thalassemia and SCD are showing promising outcomes: patients were able to discontinue transfusions or had reduced transfusion requirements. However, toxic myeloablation and the high cost of current ex vivo HSC gene therapy platforms represent a barrier to a widespread application of these approaches. In this review, we summarize these gene therapy strategies and ongoing clinical trials. Finally, we discuss possible strategies to improve outcomes, reduce myeloablative regimens and future challenges to reduce the cost of gene therapy platform.© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email:
PMID: 31322165
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8.Trials. 2019 Jul 18;20(1):442. doi: 10.1186/s13063-019-3461-x.Prevention of Morbidity in Sickle Cell Disease (POMS2a)-overnight auto-adjusting continuous positive airway pressure compared with nocturnal oxygen therapy: a randomised crossover pilot study examining patient preference and safety in adults and children.Howard J1Lee SA2Inusa B3Cheng MYE4Bavenjit C5Reading IC4Wakeford SA6Gavlak JC6,7Murphy PB8,9Hart N8,9Gupta A8Sahota S7Jacob E10Chorozoglou M11Ossai C12Gwam M12Kirkham FJ13,14,15Wade AM3Liossi C11,16,17.AbstractDESIGN:This randomised crossover trial compared nocturnal auto-adjusting continuous positive airway pressure (APAP) and nocturnal oxygen therapy (NOT) in adults and children with sickle cell anaemia, with patient acceptability as the primary outcome. Secondary outcomes included pulmonary physiology (adults), safety, and daily pain during interventions and washout documented using tablet technology.METHODS:Inclusion criteria were age > 8 years and the ability to use an iPad to collect daily pain data. Trial participation was 4 weeks; week 1 involved baseline data collection and week 3 was a washout between interventions, which were administered for 7 days each during weeks 2 and 4 in a randomised order. Qualitative interviews were transcribed verbatim and analysed for content using a funnelling technique, starting generally and then gaining more detailed information on the experience of both interventions. Safety data included routine haematology and median pain days between each period. Missing pain day values were replaced using multiple imputation.RESULTS:Ten adults (three female, median age 30.2 years, range 18-51.5 years) and eleven children (five female, median age 12 years, range 8.7-16.9 years) enrolled. Nine adults and seven children completed interviews. Qualitative data revealed that the APAP machine was smaller, easier to handle, and less noisy. Of 16 participants, 10 preferred APAP (62.5%, 95% confidence interval (CI) 38.6-81.5%). Haemoglobin decreased from baseline on APAP and NOT (mean difference -3.2 g/L (95% CI -6.0 to -0.2 g/L) and -2.5 g/L (95% CI -4.6 to 0.3 g/L), respectively), but there was no significant difference between interventions (NOT versus APAP, 1.1 (-1.2 to 3.6)). Pulmonary function changed little. Compared with baseline, there were significant decreases in the median number of pain days (1.58 for APAP and 1.71 for NOT) but no significant difference comparing washout with baseline. After adjustment for carry-over and period effects, there was a non-significant median difference of 0.143 (95% CI -0.116 to 0.401) days additional pain with APAP compared with NOT.CONCLUSION:In view of the point estimate of patient preference for APAP, and no difference in haematology or pulmonary function or evidence that pain was worse during or in washout after APAP, it was decided to proceed with a Phase II trial of 6 months APAP versus standard care with further safety monitoring for bone marrow suppression and pain.TRIAL REGISTRATION:ISRCTN46078697 . Registered on 18 July 2014.PMCID: PMC6637584 Free PMC Article
PMID: 31319882
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9.Pediatr Blood Cancer. 2019 Jul 18:e27921. doi: 10.1002/pbc.27921. [Epub ahead of print]Characterizing complication risk from multisite, intermittent transfusions for the treatment of sickle cell disease.Tang A1,2Branscomb J3Zhou M3Snyder A3Eckman J4.AbstractBlood transfusions are indicated for some acute complications of sickle cell disease (SCD). To characterize the SCD population at increased risk of transfusion-associated complications, Georgia hospital discharge data were used to estimate the frequency of intermittent transfusions and the proportion of patients receiving them at multiple institutions. Ten years of data (2007-2016) showed almost 19% of patients with SCD (1585/8529) received transfusions at more than one hospital. The likelihood of multisite transfusions increased from ages 18 through 40 and with the number of transfusions received. The results support the need to track and share transfusion histories in order to reduce complication risks.© 2019 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.
PMID: 31318157
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10.JMIR Res Protoc. 2019 Jul 17;8(7):e13211. doi: 10.2196/13211.The Role of Cognitive Behavioral Therapy in Opioid Use Reduction in Pediatric Sickle Cell Disease: Protocol for a Systematic Review.Anderson AT1,2Tran N3,4Smith K1,2Kelley-Quon LI3,4,5.Author information: 
1. Division of General Pediatrics, Children’s Hospital Los Angeles, Los Angeles, CA, United States.
2. Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, CA, United States.
3. Department of Surgery, Children’s Hospital Los Angeles, Los Angeles, CA, United States.
4. Department of Surgery, University of Southern California Keck School of Medicine, Los Angeles, CA, United States.
5. Department of Preventive Medicine, University of Southern California Keck School of Medicine, Los Angeles, CA, United States.AbstractBACKGROUND:Sickle cell disease (SCD) is a genetic disorder of red blood cells that results in acute and chronic health problems, including painful syndromes. Opioid analgesia is the mainstay of moderate to severe pain management in SCD, although adjunctive psychosocial approaches such as cognitive behavioral therapy (CBT) are increasingly incorporated. CBT has been used in populations of various ages to address a wide range of issues, such as mood disorders and chronic pain. It is unclear if effective CBT reduces the use of opioids to manage pain in pediatric SCD.OBJECTIVE:The aim of this study is to evaluate the association between CBT and decreased opioid use in children with SCD.METHODS:In this systematic review protocol, we describe our approach to applying predetermined eligibility criteria to searches of PubMed (including Medline), Embase, Cochrane, Web of Science, and PsycINFO databases, as well as Google Scholar and grey literature. In particular, we will use keywords to search for English-language studies of individuals with SCD aged 21 years old and younger published before November 2018. Keywords will allow us to assess for the primary outcome-total use of opioid medications-and the secondary outcomes-pain intensity and emotional functioning-during pain management using a combined opioid and CBT approach, opioids alone, or CBT alone. The review team will use standardized abstraction forms to review articles at the title, abstract, and full-text levels. Finally, reviewers will assess the risk for bias, quality of evidence, and adequacy of data for quantitative versus qualitative synthesis. If meta-analysis is deemed inappropriate, a narrative review will be conducted.RESULTS:We will report a summary of findings across studies that meet eligibility criteria to compare the extent to which adjunctive CBT is associated with decreased opioid use among children with SCD.CONCLUSIONS:This systematic review will present the current state of the evidence on CBT and opioid use in pediatric SCD, which may inform clinical practice and health policy to support optimized pain management.INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID):PRR1-10.2196/13211.©Ashaunta T Anderson, Nhu Tran, Kathryn Smith, Lorraine I Kelley-Quon. Originally published in JMIR Research Protocols (, 17.07.2019.Free Article
PMID: 31317868
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11.Pilot Feasibility Stud. 2019 Jul 4;5:85. doi: 10.1186/s40814-019-0471-0. eCollection 2019.A pilot test of the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) and the Jenerette Self-Care Assessment (J-SAT) Tools in adults with sickle cell disease.Bulgin D1Douglas C1Tanabe P1.bstractBackground:The purpose of this study was to pilot test two sickle cell-specific instruments, the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) and Jenerette Self-Care Assessment Tool (J-SAT), to determine recruitment rate, percent completion of the instrument battery, and patient perceptions of health-related quality of life outcomes and self-care activities in a convenience sample of adults with sickle cell disease (SCD).Methods:A cross-sectional pilot study was conducted. Participants were recruited from a sickle cell clinic and conference on SCD. Subjects completed self-administered assessments including demographic and clinical characteristics, ASCQ-Me, and the J-SAT.Results:Twenty of 22 participants completed the instruments (2 refusals) and most instruments had 100% completion rates. Participants reported average to healthier status on ASCQ-Me measures than a normative referent population of 556 individuals with SCD. Participants also reported high disease severity and high J-SAT scores (mean = 30.2), indicating frequent participation in self-care activities.Conclusions:There was good participation, low refusal rates, and subjects completed the instruments and items without difficulty. Based on this work, a multi-method, multi-site study in Jamaica and the USA will be conducted to understand the relationships between health-related quality of life, stigma, and self-management in adults with SCD.PMCID: PMC6610829 Free PMC Article
PMID: 31312513
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12.Mediterr J Hematol Infect Dis. 2019 Jul 1;11(1):e2019042. doi: 10.4084/MJHID.2019.042. eCollection 2019.Sickle Cell Disease and Infections in High- and Low-Income Countries.Cannas G1Merazga S1Virot E1.Author information: 
1. Hospices Civils de Lyon, Hôpital Edouard Herriot, Médecine Interne, Centre de Référence Constitutif: Syndromes Drépanocytaires Majeurs, Thalassémies at Autres Pathologies Rares du Globule Rouge et de l’Erythropoïèse; Lyon, France.AbstractInfections, especially pneumococcal septicemia, meningitis, and Salmonella osteomyelitis, are a major cause of morbidity and mortality in patients with sickle cell disease (SCD). SCD increased susceptibility to infection, while infection leads to SCD-specific pathophysiological changes. The risk of infectious complications is highest in children with a palpable spleen before six months of age. Functional splenectomy, the results of repeated splenic infarctions, appears to be a severe host-defense defect. Infection is the leading cause of death, particularly in less developed countries. Defective host-defense mechanisms enhance the risk of pneumococcal complications. Susceptibility to Salmonella infections can be explained at least in part by a similar mechanism. In high-income countries, the efficacy of the pneumococcal vaccine has been demonstrated in this disease. A decreased in infection incidence has been noted in SCD patients treated prophylactically with daily oral penicillin. Studies in low-income countries suggest the involvement of a different spectrum of etiological agents.PMCID: PMC6613623 Free PMC Article
PMID: 31308918
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13.Mediterr J Hematol Infect Dis. 2019 Jul 1;11(1):e2019040. doi: 10.4084/MJHID.2019.040. eCollection 2019.Sickle Cell Disease and Pregnancy.Jain D1Atmapoojya P2Colah R3Lodha P4.Author information: 
1. Professor and Head, Dept. of Pediatrics, Government Medical College & Hospital, Nagpur.
2. Senior Resident, Dept. of Pediatrics, Government Medical College & Hospital, Nagpur.
3. Former Scientist G & Director In-Charge, National Institute of Immunohaematology, Mumbai.
4. Consultant, Fetal Medicine and Fetal Therapy, Ruby Hall Clinic & Director, Kangaroo Cradle; The Fetal Care Clinic, Pune.AbstractSickle cell disease (SCD) is the most common inherited hemoglobinopathy and is associated with increased risk of complications and early mortality. Nowadays, with improved health care facilities, antibiotic prophylaxis, vaccination, and availability of drugs like hydroxyurea, the life expectancy of SCD patients has improved. More women are reaching reproductive age group and are expressing their desire to reproduce. Though SCD adversely affects pregnancy, leading to increased incidence of maternal and perinatal complications like pre-eclampsia, preterm labor, IUGR, abortions etc., adequate care throughout pregnancy ensures a better outcome. Also, recent advancements in the fields of prenatal diagnosis and preimplantation genetic diagnosis, help couples suffering from SCD to have a healthy baby. This paper focuses on the effects of SCD on pregnancy outcomes and effective management of complications during pregnancy, also comparing maternal and perinatal outcomes in studies conducted in different countries. The second part of the paper summarizes pregnancy management in SCD for better maternal and fetal outcomes.PMCID: PMC6613624 Free PMC Article
PMID: 31308916
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14.Acta Haematol. 2019 Jul 15:1-13. doi: 10.1159/000500258. [Epub ahead of print]Pediatric to Adult Transition in Sickle Cell Disease: Survey Results from Young Adult Patients.Travis K1Wood A1Yeh P1Allahabadi S1Chien LC1Curtis S1Hammond A1Kohn J1Ogugbuaja C1Rees M1Shumway J1Sheehan V2.AbstractBACKGROUND/AIMS:We surveyed sickle cell disease (SCD) patients who transitioned from pediatric care at Texas Children’s Hematology Center (TCHC) to adult care to determine the characteristics of patients with an adult SCD provider, continuation rates of pre-transition therapies, and patient perceptions of the transition process.METHODS:A cross-sectional study was conducted by telephone survey of 44 young adults with SCD, aged 19-29 years, who transitioned from TCHC to adult care within the last 15 years.RESULTS:Findings of the 23-item questionnaire revealed that transitioned patients with current adult providers (68.2%) were more likely to have seen a provider within 6 months of transition (p = 0.023) and to have been on hydroxyurea and/or monthly blood transfusions pre-transition (p = 0.021) than transitioned patients without a provider; 83% of patients on pre-transition hydroxyurea reported continuing hydroxyurea after transition. Transition challenges included inadequate preparation, difficulty finding knowledgeable adult providers, and lack of healthcare insurance/coverage.CONCLUSION:Transition to adult providers is predicted by establishing care with an adult SCD provider within 6 months of transition and being on pre-transition disease-modifying therapy. Transition may be improved if pediatric hematology centers assist and verify adult provider contact within 6 months of transition and engage patients of all disease severity during transition.© 2019 S. Karger AG, Basel.
PMID: 31307033
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15.J Adv Nurs. 2019 Jul 9. doi: 10.1111/jan.14152. [Epub ahead of print]The experience of adults with sickle cell disease and their HLA-matched adult sibling donors after allogeneic hematopoietic stem cell transplantation.Gallo AM1Patil CL1Knafl KA2Angst DA3Rondelli D4Saraf SL5.AbstractAIM:To provide a rich description and in-depth understanding of the recipient-donor allogeneic hematopoietic stem cell transplantation experience.BACKGROUND:A stem cell transplant has a high likelihood of improving symptoms of sickle cell disease in adults. While studies have reported the transplant experiences of recipients and donors with hematological malignancies, no published reports have examined the experience of both adult recipients with sickle cell disease and their donors.DESIGN:Exploratory qualitative descriptive analysis.METHODS:We conducted individual interviews with 13 recipients and donors (8 males, 5 females) representing five recipient-donor dyads and one recipient-donor triad from one Midwest transplant center between August 2017 – February 2018. Interviews were digitally audio-recorded, transcribed verbatim and analyzed using conventional content analysis.FINDINGS:Five themes were identified: the downward spiral and a second chance; getting the monster off my back; difficult and manageable; it was worth it; and relating to the healthcare team.CONCLUSIONS:The results provide a description and insights into the complex nature of the stem cell transplant experience in sickle cell disease from the perspectives of both recipients and donors.IMPACT:Health provider awareness of recipient-donor experiences can contribute to family-centered care that supports the health and quality of life for both recipients and donors. This understanding promotes high quality clinical care and improved communications by taking into account the knowledge, values and informed preferences of recipients and donors and contributes to improved decision-making and clinical care. Future research can assess family experiences that support informed choice for potential transplant candidates. This article is protected by copyright. All rights reserved.This article is protected by copyright. All rights reserved.
PMID: 31287187
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16.Cochrane Database Syst Rev. 2019 Jul 5;7:CD012943. doi: 10.1002/14651858.CD012943.pub2. [Epub ahead of print]Interventions for treating neuropathic pain in people with sickle cell disease.Asnani MR1Francis DKBrandow AMHammond Gabbadon CEAli A..AbstractBACKGROUND:Pain is the hallmark of sickle cell disease (SCD) and it can be severe, frequent and unpredictable. Although nociceptive pain is more common, at times, people with SCD may have neuropathic pain. The latter can occur due to peripheral or central nerve injury. This review is focused on identifying treatment of only painful sensory neuropathy in people with SCD.OBJECTIVES:To determine the effectiveness and safety of any pharmacological or non-pharmacological therapies for treating neuropathic pain in people with SCD.SEARCH METHODS:We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group’s Haemoglobinopathies Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched trial registries, the reference lists of relevant articles and reviews and contacted experts in the field.Date of last search: 31 January 2019.SELECTION CRITERIA:Randomised controlled trials (RCTs) (parallel or cross-over in design), quasi-RCTs of pharmacological or non-pharmacological therapies for treating neuropathic pain in people with SCD compared to placebo or another intervention in any category (i.e. pharmacological or non-pharmacological).DATA COLLECTION AND ANALYSIS:Two review authors independently assessed all trials identified by the searches and extracted relevant data. Two authors independently assessed the risk of bias in the selected trials using the Cochrane risk of bias tool. Two review authors independently rated the quality of the evidence for each outcome using the GRADE guidelines.MAIN RESULTS:One RCT of 22 participants with SCD, conducted in the USA was included in this review. Participants were randomly assigned to either pregabalin (n = 11) or placebo (n = 11). Oral pregabalin was administered at an initial dose of 75 mg twice daily. The drug was titrated at increments of 75 mg to a maximum of 600 mg daily or decreased by 75 mg per day if necessary, based on clinical presentation and pain level. Neuropathic pain was assessed using self-reports on the Leeds Assessment of Neuropathic Symptoms and Signs (S-LANNS) scale and the Neuropathic Pain Symptom Inventory (NPSI), where higher scores were indicative of more pain. Outcomes included self-reported pain, quality of life and withdrawal due to adverse effects measured at baseline and monthly for three months post-intervention. The overall risk of bias was low with a high risk of bias due to attrition.In relation to this reviews primary outcomes, for self-reported neuropathic pain relief, given the paucity of data, we are very uncertain whether there is a difference between the pregabalin and placebo groups at the end of three months as measured by the S-LANSS scale, mean difference (MD) -2.00 (95% confidence interval (CI) -9.18 to 5.18), or the NPSI scale, MD -11.10 (95% CI -33.97 to 11.77) (very low-quality evidence). There was no report of ‘Patient Global Impression of Change’ in the included trial.Although the mean quality of life scores (Short Form-36) at three months showed small increases in seven of the eight domains post-intervention in the pregabalin group as compared to the placebo group, this was very low-quality evidence and we are very uncertain whether pregabalin increases quality of life. Neither of our pre-defined outcomes of ‘time to improvement of symptoms’ or ‘changes in sleep quality’, were measured in the included trial.While treatment-related adverse effects appeared higher in pregabalin group than the placebo group at three months, this was very low-quality evidence and we are very uncertain whether there is a difference, RR 1.33 (95% CI 0.39 to 4.62) (very low-quality evidence). There was one withdrawal for adverse effects in the pregabalin group while three people withdrew or dropped out from the placebo group due to adverse effects and complications and hospitalisation related to SCD.AUTHORS’ CONCLUSIONS:The included trial provided very low-quality evidence. Self-reported pain relief was greater in the pregabalin group compared to the placebo control group but only using the S-LANSS scale and we are very unsure whether there is a difference. While the pregabalin group tended to have improved quality of life over the duration of the trial, this was very low-quality evidence and we are uncertain whether there is a difference. Adverse effects and withdrawals were similar across the treatment and placebo control group in trial. There are both insufficient trials addressing this review question and insufficient outcomes addressed in the single included RCT. Therefore, there is still a significant gap in evidence on interventions for neuropathic pain in people with SCD.PMCID: PMC6609827 [Available on 2020-07-05]
PMID: 31273755
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17.Ochsner J. 2019 Summer;19(2):131-137. doi: 10.31486/toj.18.0044.Curative Therapies for Sickle Cell Disease.Khemani K1,2Katoch D1,2Krishnamurti L1,2.AbstractBackground: Sickle cell disease (SCD) is an inherited hemoglobinopathy associated with severe morbidity, impaired quality of life, and premature mortality. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment available for patients with SCD and has a >90% event-free survival when a matched related donor is used. However, availability of human leukocyte antigen (HLA)-identical sibling donors for the SCD population is limited. The use of HLA-matched unrelated donors or related haploidentical donors has the potential to expand the donor pool. Methods: We reviewed the current literature on the indications for SCD transplantation, donor options, and the emerging use of gene therapy as a treatment option. Google Scholar and PubMed were searched using the terms SCD, bone marrow transplantation, donor sources, gene therapy, HSCT, and HLA matching. Additional articles were identified from the bibliographies of retrieved articles. All articles were reviewed for pertinent information related to SCD and transplantation. Results: HSCT has the potential to establish donor-derived normal erythropoiesis with stable long-term engraftment, amelioration of symptoms, and stabilization of organ damage. The majority of HSCT has been performed in children from HLA-identical sibling donors and has resulted in excellent rates of survival. The use of alternate donors such as HLA-matched unrelated donors and haploidentical donors has the potential to expand the applicability of HSCT for SCD. Early results in gene therapy for SCD are encouraging. Conclusion: Evaluation of the long-term benefits of curative therapies for SCD requires comparative clinical trials and studies of late effects.PMCID: PMC6584191 Free PMC Article
PMID: 31258425
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