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Doctors at the University of Illinois Hospital have cured seven adult patients of sickle cell disease, an inherited blood disorder primarily affecting the black community, using stem cells from donors previously thought to be incompatible, thanks to a new transplant treatment protocol.
The doctors report on the new technique in the journal Biology of Blood and Marrow Transplantation. https://www.sciencedaily.com/releases/2018/04/180425093843.htm
With the new protocol, patients with aggressive sickle cell disease can receive stem cells from family members if only half of their human leukocyte antigen (HLA) markers match. Previously, donors had to be a family member with a full set of matching HLA markers, or a “fully-matched” donor.
HLA markers are proteins on the surface of cells that help to regulate the immune system. The human body uses these proteins to identify which cells belong in the body and which cells do not. Because HLA markers are inherited from parents, family members are the most likely to have matching proteins. In transplants, matching HLA markers between the patient and the donor help to limit the risk that the patient’s body will reject the donor cells.
While doctors always try to find a closely matched donor for patients who need a stem cell transplant, only 20 percent of sickle cell patients have a family member with a full set of matching HLA markers.
“We have made great strides curing adults with sickle cell disease with stem cell transplants, but the unfortunate truth is that the majority of these patients have, until now, been unable to benefit from this treatment because there are no fully-matched HLA-compatible donors available in their family,” said corresponding author Dr. Damiano Rondelli, the Michael Reese Professor of Hematology and director of the Blood and Marrow Transplant program at the University of Illinois at Chicago.
Rondelli and his team run the largest adult sickle cell program in the Chicago area and pioneered the use of chemotherapy-free fully-matched stem cell transplants for sickle cell patients nearly six years ago.
Now, by allowing for “half-matched” donors, the new treatment protocol, which uses only a small does chemotherapy, significantly increases the number of potential donors for each patient.
The doctors screened 50 adult sickle cell patients as candidates for a half-matched stem cell transplant between January 2014 and March 2017. Ten patients received a transplant. Following two unsuccessful transplants, the doctors adopted the new treatment protocol, which included modifications to a process first developed at Johns Hopkins University.
“We modified the transplant protocol by increasing the dose of radiation used before the transplant, and by infusing growth factor-mobilized peripheral blood stem cells instead of bone marrow cells,” Rondelli said. “These two modifications helped ensure the patient’s body could accept the healthy donor cells.”
Of the eight patients who underwent the revised transplant, one experienced chronic graft-versus-host disease following the transplant and died of unknown causes. The other seven patients are alive and maintain 95 percent or higher stable engraftment — acceptance of donor cells — with improved blood work at least 12 months following the transplant.
“These patients are cured of sickle cell disease,” Rondelli said.
“The takeaway message is twofold. First, this transplant protocol may cure many more adults patients with advanced sickle cell disease,” he said. “Second, despite the increasing safety of the transplant protocols and new compatibility of HLA half-matched donors, many sickle cell patients still face barriers to care — of the patients we screened, only 20 percent underwent a transplant.”
Rondelli says that medical insurance denial accounted for 20 percent of the lack of access to the transplant. Other factors included personal decisions and high rates of donor-specific antigens in patients who had received frequent blood transfusions.
Sickle Cell Trait May Not Contribute to Stroke Risk
Genetic variant not an independent predictor among African Americans
Sickle cell trait may not be an independent genetic risk factor for ischemic stroke among African Americans, a new meta-analysis suggests.
In a review of four studies with more than 19,000 African-American participants, Hyacinth I. Hyacinth, MD, PhD, MPH, of Emory University School of Medicine in Atlanta, and colleagues reported no association between heterozygosity for the sickle cell mutation or sickle cell trait and incidence of ischemic stroke in JAMA Neurology.
“Sickle cell trait was not associated with a higher risk of ischemic stroke among African Americans,” Hyacinth told MedPage Today. “This negative study and its findings are important as we attempt to develop more targeted approaches for stroke prevention.”
Qualifying for Social Security Disability with Sickle Cell Disease
By Eric Minghella
If you or your child has sickle cell anemia, you may be eligible for financial assistance. The Social Security Administration (SSA) offers aid to people and adults of all ages who are unable to work or participate in typical childhood activities. Sickle cell disease is listed as a qualifying condition, meaning you could be eligible for monthly payments for your medical bills, paid medication, childcare, rent, travel expenses, and any other daily living needs.
Medically Qualifying for Benefits
The SSA uses its own medical guide of qualifying criteria, known colloquially as the Blue Book, to evaluate disability applicants and award benefits to those who qualify. Sickle cell disease is listed under Section 7.05 of the Blue Book. Under this listing, there are four ways to qualify:
- You have documentation proving you have severe pain from sickle cell disease requiring narcotic medication at least six times within any year, with at least 30 days between crises.
- You have complications of hemolytic anemia requiring three hospitalizations within one year, each at least 30 days apart. A stay in the hospital must last at least 48 hours to count.
- Your hemoglobin measurements are 7.0 grams per deciliter or less. You’ll need three measurements within a yearlong period to qualify.
- You have beta thalassemia major, which requires lifelong RBC transfusions at least once every six weeks.
The Blue Book was written for medical professionals, and you may not immediately know if you qualify with sickle cell disease. Because the entire Blue Book is available online, you can review Section 7.05 with your hematologist to determine if you qualify for benefits.
Children and Disability Benefits
Qualifying criteria for children with sickle cell disease is less strict than for adults, but children on disability benefits will have strict income limitations. Anyone under age 18 is only eligible for Supplemental Security Income, or SSI benefits. These are only awarded to the most financially needy Americans. If you’re applying on behalf of a minor child with sickle cell disease, your child’s claim could be denied if your household income is too high. The larger your family, the higher your income limit will be.
For example, a single parent with one child could only earn $38,000 per year and still qualify. A two-parent family of five could earn more than $55,000 and still qualify for SSI benefits. Review the SSA’s online chart to determine how much income your family could earn while still qualifying.
Unfortunately, financial eligibility is the top reason why children are denied benefits with sickle cell disease. The good news is once your child turns 18, your income no longer counts towards her SSI limits, even if your child still lives at home.
Starting Your Application
The easiest way to apply for Social Security disability benefits is online from the comfort of your own home. If you’re applying on behalf of a child, or if you’d rather have assistance applying, you can do so in person at your local SSA office. Call the SSA toll free at 1-800-772-1213 to schedule an appointment to apply today.It usually takes three to five months to hear back from the SSA. Once approved, you can focus on what’s important: your health.
Resources Found Via:
The International Association of Sickle Cell Nurses and Professional Associates, Inc. (IASCNAPA) has established a college scholarship program to assist individuals living with Sickle Cell Disease who attend an institution of higher learning in the United States. Applicants for IASCNAPA’s $1,000 Scholarships must be enrolled in, or have been accepted by, a recognized and accredited post- secondary school, including college, university, trade school, or other institution of higher learning. Curriculum choice, age, gender, race, ethnic background, religion and political affiliation will not be used in evaluating applications. An active IASCNAPA member or a sickle cell disease medical provider must sponsor all applicants. Applications are accepted from March 1 through July 1 of each year. Awards will be given in August of each year. The number of scholarships awarded each year is dependent on available funds and the quality of applications.
IASCNAPA’s funded scholarship awards include:
The Steven Christy Scholarship Fund was established by his wife in memory of her husband, an individual who lived with sickle cell disease and valued education. He struggled to complete college, but persevered and graduated from Fitchburg State University. He spent his career helping others – first as a social worker at Favarh and then as a counselor and coordinator of newborn hemoglobinopathy screening programs at the combined UCONN/St. Francis sickle cell clinic.
The Christine A. Johnson Scholarship Fund was established by the friends of Dr. Christine A. Johnson in her honor. Dr. Christine A Johnson was a provider and advocate for people with sickle cell disease for most of her adult career. She was the founder and Director of the Pediatric Sickle Cell Program at Wake Forest Baptist Medical Center, and an advocate for sickle cell disease for 30 years.
For more information, to donate to the scholarship fund, or to apply for the scholarship, go to www.Iascnapa.org
New Paperback and ebook of the memoir, Menace in My blood – my affliction with sickle cell anaemia The author is Ayoola Olajide, editior, African Sickle Cell News and World Report is https://www.amazon.com/dp/1980236690
Articles in the Medical Literature
Pediatr Blood Cancer. 2018 Apr 25:e27081. doi: 10.1002/pbc.27081. [Epub ahead of print]
Adherence to illness self-management among youth with sickle cell disease (SCD) positively impacts health outcomes and decreases overall healthcare costs. Despite this, children with SCD face several barriers to adherence, with adherence rates that remain moderate to low. The current feasibility study examined the Intensive Training Program (ITP), a mobile health (mHealth) intervention for youth with SCD designed to promote disease knowledge, adherence, and patient-provider communication.
Youth with SCD prescribed hydroxyurea between ages 7-18 completed baseline disease knowledge and psychosocial assessments and then were provided with the ITP app. Youth participated in the 90-day ITP, during which they completed three education modules, tracked adherence through daily self-recorded videos on the app, and received video messages from providers. Participants completed poststudy knowledge, psychosocial, and feasibility questionnaires. Medication possession ratio (MPR) was obtained via pharmacy-refill rates.
Thirty-two youths (mean age = 13.0 years) participated, with an average adherence tracking rate of 0.6 (standard deviation = 0.34). All participants demonstrated increased MPR (0.57-0.74, P < 0.001, d = 0.75) and disease knowledge (59.6-88.6%, P < 0.001). There was variable engagement in the ITP; completers demonstrated significantly better SCD-related functioning (P < 0.05), higher parent-reported treatment functioning (P < 0.05), and lower pain impact than noncompleters of the ITP (P < 0.05).
Results support the ITP can feasibly be implemented to promote adherence among youth with SCD. All participants demonstrated increased adherence and disease knowledge. However, there was variable engagement and only intervention completers showed improvements in psychosocial outcomes. Further research is needed to evaluate long-term outcomes and ways to promote engagement in mHealth interventions among the youth.
© 2018 Wiley Periodicals, Inc.
Pediatr Blood Cancer. 2018 Apr 25:e27105. doi: 10.1002/pbc.27105. [Epub ahead of print]
Hematopoietic stem cell transplantation (HSCT) is a curative therapy for patients with phenotypically severe sickle cell anemia, and survival rates following matched-sibling HSCT are very high. However, despite cure rates much higher than HSCT for malignant diseases, the field has been slow to adopt this treatment modality for sickle cell anemia. This article explores some of the social forces that may contribute to this dichotomy.
J Pediatr Hematol Oncol. 2018 Apr 20. doi: 10.1097/MPH.0000000000001177. [Epub ahead of print]
Hydroxyurea (HU) has proven hematologic and clinical benefits, especially when escalated to the maximum tolerated dose (MTD). We reviewed clinical data from patients with sickle cell disease (January 2011 to 2016) to determine baseline sociodemographic and laboratory parameters associated with reaching HU MTD without significant delays. In total, 210 patients (mean HU start age, 6.6 y) were included. Initial Kaplan-Meier event analysis showed 1 year to be an inflection point for reaching MTD. In total, 116 patients (55%) reached MTD in <1 year, with 56 (27%) taking >1 year to reach MTD and 38 (18%) patients not successfully reaching MTD during follow-up. In both crude and adjusted analyses, age at HU start was found to be significantly and inversely associated with reaching MTD within 1 year. The data presented, specifically the inflection point of reaching MTD at 1 year and the association of young HU start age with reaching MTD within a year, suggest that successful achievement of MTD may be facilitated by starting patients on HU at a young age and that older patients should receive additional intervention to attain MTD within 1 year. Patients who do not achieve MTD within a year may need the most extensive intervention.
Br J Haematol. 2018 Apr 20. doi: 10.1111/bjh.15238. [Epub ahead of print]
Cardiac involvement is well characterized in sickle cell anaemia (SCA) but cardiac features associated with Haemoglobin SC (HbSC) disease are mostly unknown. We compared 60 patients with HbSC disease (median age 31 years, 25 men) to 60 SCA patients and 60 controls matched for age and gender. Left ventricular ejection fraction (LVEF), left ventricle (LV) mass index (LVMi), cardiac index and peak tricuspid regurgitation velocity (TRV) were measured using echocardiography. LV filling pressures were assessed using the ratio of early diastolic transmitral velocity to tissue velocity (E/e’ ratio). The LVMi was higher in both genotypes compared to controls. However, whereas LV hypertrophy was observed only in 3(5%) HbSC patients, this condition was diagnosed in 27(45%) SCA patients (P < 0·0001). While cardiac index and TRV were similar in HbSC compared to controls, SCA patients exhibited elevated cardiac output and TRV. LVEF was similar in the 3 groups. However, both genotypes had a higher E/e’ ratio compared to controls. Cardiac involvement in SCA was related to anaemia and haemolysis, while LV diastolic dysfunction and TRV in HbSC disease patients were related to arterial hypertension and overweight comorbidities. In summary, cardiac involvement and its determinants are different in HbSC disease and SCA. Patient’s genotype should be considered with regard to the echocardiographic indications and findings.
J Pediatr Oncol Nurs. 2018 Apr 1:1043454218767875. doi: 10.1177/1043454218767875. [Epub ahead of print]
The purpose of this article is to discuss the use of the Newest Vital Sign (NVS) health literacy instrument in adolescents with sickle cell disease. The NVS evaluates both literacy and numeracy (the ability to understand and work with numbers) as well as the ability to locate and apply information. It is important to validate the NVS for use in adolescents, as the only currently validated instrument, the Rapid Estimate of Adolescent Literacy in Medicine-Teen (REALM-Teen), does not measure numeracy or the ability to locate or apply information. This cross-sectional, descriptive, exploratory correlational study included appraisal of data from completion of the REALM-Teen and NVS instruments by a convenience sample of 75 adolescents with sickle cell disease. The mean age of this study sample was 14.7 years ( SD = 2.2). The mean grade level of participants was 8.7 ( SD = 2.2). Internal consistency for the NVS in this population was acceptable (α = .63). Criterion validity was based on correlations between raw scores on the NVS and raw scores on the REALM-Teen. There was a significant moderate, positive correlation between NVS and REALM-Teen scores ( r = .38, p < .01), demonstrating good criterion validity. Preliminary evidence for reliability and validity of the NVS in this population was established.
J Black Psychol. 2017 Oct;43(7):659-668. doi: 10.1177/0095798417696785. Epub 2017 Mar 1.
Sickle cell disease (SCD) is a genetic blood disorder that predominantly affects people of African descent. However, there is limited information on how social and cultural contexts affect SCD-related health care use. We explored whether communalism moderated the relation between racial centrality and emergency department use for SCD pain in a sample of 62 adults who were seen at a comprehensive clinic. Bivariate analyses showed a significant correlation between racial centrality and emergency department use (r = -.30, p = .02). Pain-adjusted regression analyses indicated a moderating effect of communalism (b = .77, p < .01) such that an inverse association between racial centrality and emergency department use was observed only at mean and low levels of communalism. Additional studies are needed to replicate these findings with larger samples. There is also a need for further studies that elucidate the role of culturally centered coping strategies on health care use in this patient group.
PMCID: PMC5894890 Free PMC Article
Conflict of interest statement
Declaration of Conflicting Interests The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Biol Blood Marrow Transplant. 2018 Apr 12. pii: S1083-8791(18)30185-X. doi: 10.1016/j.bbmt.2018.03.031. [Epub ahead of print]
We report on the screening and development of haploidentical hematopoietic stem cell transplantation (HSCT) for adult patients with clinically aggressive sickle cell disease (SCD) at our institution. Of 50 adult SCD patients referred for HSCT between 1/2014-3/2017, 20% were denied by insurance. Of 41 patients initially screened, 10% lacked an available haploidentical donor, 29% had elevated donor specific antibodies (DSA) and 34% declined to proceed to HSCT. All 10 patients who were transplanted received peripheral blood stem cells (PBSC). The initial two were conditioned with alemtuzumab/total body irradiation (TBI) 3Gy followed by post-transplant cyclophosphamide and failed to engraft. The next 8 patients received the regimen developed at Johns Hopkins University (Bolaños-Meade J, Blood 2012) with TBI 3Gy. G-CSF was administered from day+12 in those with HbS <30%. All 8 patients engrafted with a median time to neutrophil >0.5 x109/L of 22 days (range, 18-23 days). One patient subsequently lost the graft and 7 (87.5%) maintained >95% donor cell chimerism at 1-year post-HSCT. Two patients developed acute GVHD ≥grade 2. One had chronic GVHD and died >1 year after HSCT of unknown causes. With a median follow up of 16 months (range, 11-29 months), 7 patients (87.5%) are alive. Our findings suggest that limited insurance coverage, high rate of DSA and patient declining HSCT, may limit the availability of haploidentical HSCT in adult SCD patients. The modified Hopkins regimen used here demonstrates high engraftment and low morbidity rates and should be tested in larger, multicenter prospective clinical trials.
Issues Ment Health Nurs. 2018 Apr 13:1-11. doi: 10.1080/01612840.2018.1443530. [Epub ahead of print]
The aim of this systematic review was to synthesize the literature regarding health-related stigma in adolescents and adults living with sickle cell disease (SCD). Four domains were identified from 27 studies: 1) social consequences of stigma, 2) the effect of stigma on psychological well-being, 3) the effect of stigma on physiological well-being, and 4) the impact of stigma on patient-provider relationships and care-seeking behaviors. Current literature revealed that SCD stigma has detrimental consequences. Methodological issues as well as research and practice implications were identified. Future research should further examine the impact of health-related stigma on self-management of SCD.
Am J Hematol. 2018 Apr 10. doi: 10.1002/ajh.25103. [Epub ahead of print]
Red blood cell transfusions have become standard of care for the prevention of life-threatening anemia in patients with β-thalassemia and sickle cell disease. However, frequent transfusions can lead to accumulation of iron that can result in liver cirrhosis, diabetes mellitus, arthritis, arrhythmias, cardiomyopathy, heart failure, and hypogonadotrophic hypogonadism. Iron chelation therapy has been shown to reduce serum ferritin levels and liver iron content, but limitations of trial design have prevented any demonstration of improved survival. The objective of this systematic review was to investigate the impact of iron chelation therapy on overall and event-free survival in patients with β-thalassemia and sickle cell disease. Eighteen articles discussing survival in β-thalassemia and 3 in sickle cell disease were identified. Overall iron chelation therapy resulted in better overall survival, especially if it is instituted early and compliance is maintained. Comparative studies did not show any significant differences between available iron chelation agents, although there is evidence that deferiprone is better tolerated than deferoxamine and that compliance is more readily maintained with the newer oral drugs, deferiprone and deferasirox. Iron chelation therapy, particularly the second-generation oral agents, appears to be associated with improved overall and event-free survival in transfusion-dependent patients with β-thalassemia and patients with sickle cell disease. This article is protected by copyright. All rights reserved.
West J Nurs Res. 2018 Apr 1:193945918768277. doi: 10.1177/0193945918768277. [Epub ahead of print]
Allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-matched sibling donor offers a unique therapy to reverse SCD. This mixed-methods study explores recipients’ perception of HSCT success, personal life goals, and associated health-related quality of life (HRQOL) more than 1 year after HSCT. Recipients completed the Short Form-36, version 1 (SF-36v1) HRQOL survey followed by a 60- to 90-min face-to-face or telephone audio-recorded interview. Eleven of 15 eligible recipients participated in the study. Although the eight HRQOL subscale scores varied, the three recipients with a successful HSCT and the highest scores were pursuing their personal life goals. The four with avascular necrosis (AVN) had lower scores related to AVN limitations, yet they were pursuing their personal goals. The two reporting a failed HSCT had reverted back to having SCD, and their subscale scores were among the lowest. Our results show that HSCT success, ability to pursue goals, and HRQOL align in predictable ways.
Clin Hemorheol Microcirc. 2018;68(2-3):301-318. doi: 10.3233/CH-189013.
Chronic activation of coagulation is one of the features of sickle cell disease (SCD). Increased tissue factor expression, phosphatidylserine exposure, thrombin generation and fibrinolysis, as well as decreased levels of natural anticoagulants have been reported in SCD patients and in the mouse models of SCD. Consistent with this, patients with SCD are prone to develop thrombotic complications. In addition, the altered morphology of sickle red blood cells (RBC) may also alter the properties and dynamics of clot formation in SCD patients. Clinical data and results from animal models have revealed complex interactions between coagulation, chronic hemolysis, and inflammation suggesting that activation of coagulation may contribute to the pathophysiology of SCD.
Clin Hemorheol Microcirc. 2018;68(2-3):263-299. doi: 10.3233/CH-189012.
The primary β-globin gene mutation that causes sickle cell disease (SCD) has significant pathophysiological consequences that result in hemolytic events and the induction of the inflammatory processes that ultimately lead to vaso-occlusion. In addition to their role in the initiation of the acute painful vaso-occlusive episodes that are characteristic of SCD, inflammatory processes are also key components of many of the complications of the disease including autosplenectomy, acute chest syndrome, pulmonary hypertension, leg ulcers, nephropathy and stroke. We, herein, discuss the events that trigger inflammation in the disease, as well as the mechanisms, inflammatory molecules and cells that propagate these inflammatory processes. Given the central role that inflammation plays in SCD pathophysiology, many of the therapeutic approaches currently under pre-clinical and clinical development for the treatment of SCD endeavor to counter aspects or specific molecules of these inflammatory processes and it is possible that, in the future, we will see anti-inflammatory drugs being used either together with, or in place of, hydroxyurea in those SCD patients for whom hematopoietic stem cell transplants and evolving gene therapies are not a viable option.
Clin Hemorheol Microcirc. 2018;68(2-3):251-262. doi: 10.3233/CH-189011.
Sickle cell disease (SCD) is a genetic disorder of hemoglobin producing hemoglobin-S (HbS) and resulting in recurrent severe episodes of pain, organ damage and premature death due to vaso- occlusion. Deoxy HbS polymerizes, causing red cells to become rigid and lodge in the microvasculature if they do not escape into larger vessels before this transformation occurs. The mechanism that triggers this transition from steady state to vaso-occlusive crisis (VOC) is not known. Patients state that cold, emotional stress, and pain itself can trigger these events. In spite of the connection between these symptoms and the autonomic nervous system (ANS), and the fact that the ANS regulates regional microvascular blood flow, the role of the ANS in sickle pathophysiology has not been significantly investigated. We will briefly review the mechanism of SCD vaso-occlusion, the dysautonomia associated with SCD and sickle trait, and the role that the ANS may play in the genesis of sickle vaso-occlusive crisis.
Sickle Cell Conferences and Events
Sickle Cell Disease Association of America, Inc. (SCDAA) seeks to highlight the work of Researchers, Community-based Member Organizations, Physicians, Nurses, Social Workers and others working on behalf of people with sickle cell disease and their families. Individuals or organizations interested in presenting reports on work completed or in progress should submit an abstract using the link below. All approved abstracts will be published in the final program to be distributed to registered conference attendees. During peer-review, abstracts judged to be the best in their categories will be selected as national finalists.
Abstract Categories Include:
- Community Based Research
- Clinical Research
- Public Health, Policy, and Psychosocial Research
- Basic Science and Translational Research
*To be eligible, abstracts must meet guidelines and be submitted by June 15, 2018 (there will be no deadline extensions). Abstracts will be reviewed and ranked by the national abstract review committee. Abstract finalists will be judged during oral presentation at convention and the “Best Abstract” in each category will be announced at the conclusion of the 46th Annual National SCDAA Convention.
Special awards for the best student and trainee abstracts will also be given.
*Upon submission you will also be prompted to submit a Disclosure form. Please visit our website for more information about our convention and the abstract submission process at https://www.sicklecelldisease.org/2017/03/07/46th-annual-national-convention/
12TH ANNUAL SICKLE CELL DISEASE RESEARCH AND EDUCATIONAL SYMPOSIUM!
June 15 -17
WASHINGTON MARRIOTT WARDMAN PARK
2660 WOODLEY ROAD NW WASHINGTON, DC 20008
The 4th Annual Sickle Cell Disease Symposium for Carolinas Healthcare System
Atrium Health will be held on Saturday, October 27, 2018 at the Speedway Club in Charlotte, NC. The theme this year is: “4th Annual SCD Symposium: Racing to Improve the Access to Care & Outcomes for SCD.”