There has been a dramatic change in sickle cell disease treatment outcomes in our lifetimes. In the early 1970s, being diagnosed with this genetic disorder was more like receiving a death sentence.
Children were not expected to live past the age of 16. Today, sickle cell patients can live well into their 40s. Despite these terrific advances in treatment, nearly 3,000 Alabamians still struggle to manage sickle cell disease today.
“Sickle cell disease is a very complex condition. Patients experience episodes of acute pain when sickle red cells block the flow of blood, cutting off the oxygen supply to tissues,” explained Ravi Bhatia, M.D., director of the UAB Division of Hematology and Oncology and deputy director of the UAB Comprehensive Cancer Center. “Over time, lack of oxygen delivery can cause damage to organs such as the spleen, brain, lungs, and kidneys. Patients are susceptible to infections, and often have severe anemia requiring blood transfusions.
“As we have found treatments to extend life expectancy, we now face the challenge of helping patients transition from pediatric to adult care,” he said.
Originally established in 1995, the Adult Sickle Cell Clinic at UAB has been working to make those important transitions in care possible. Recognizing their task would require a support network that extends far beyond the clinic walls, clinic leadership looked to the Sickle Cell Disease Association of America, North Central Alabama Chapter (known in the Birmingham region as the Sickle Cell Foundation) for partnership in this vital work.
Sharon Lewis, the foundation’s executive director, remembers attending a meeting where the prospect of raising $1 million for the clinic was discussed. Lewis recalls asking herself, “Oh, is that all?” With that ambitious goal in mind, she convinced the foundation’s board of directors to pledge $1 million to the clinic in December 2010.
Five short years later, after hosting many successful events and debuting a custom vehicle tag to raise awareness and funds, the foundation delivered the final installment on its million-dollar promise. Michael Bell, foundation board president, presented the check at a reception in the Wallace Tumor Institute lobby on Dec. 10, 2015.
“Sharon never asked permission to make this pledge. She, like Dorothy from the Wizard of Oz, led us down a yellow brick road,” Bell said. “Now, the UAB Sickle Cell Clinic is a beacon of hope to our community. There really is no place like home.”
Seth Landefeld, M.D., professor and the Spencer Chair in Medical Science Leadership in the UAB Department of Medicine, recognizes the impact of the foundation’s philanthropy on the clinic’s success.
“The department is fortunate to have the support of the foundation as we seek to address a disease that disproportionately affects African-Americans in our state. Because of the expert care provided by Clinic Director Rita Paschal, M.D., and her team, we are seeing a reduction in the number of emergency room visits and hospitalizations needed to treat the chronic symptoms of our patients,” Landefeld said.
In addition to providing world-class clinical care, one of the most important results of the foundation’s generosity is the addition of a full-time social worker to the clinic staff. According to Dr. Paschal, “The addition of psychosocial services enables us to reach the whole patient. It is a key to both longevity and a better quality of life for this vulnerable population.”
Sickle cell patient Jaquese Scott echoes the sentiment. “Dr. Paschal and the clinic have helped me so much. She sounded just like my mom when I came in to see her, scolding me for wearing clothes that weren’t warm enough to keep me healthy in the cold, and taking good care of me when I did ultimately come down with an infection.
“Now that my mom has passed, I am so grateful for my clinic family. I couldn’t do this without them.”
Winter months can pose a major health challenge for people with this inherited blood condition.
Many sickle cell disease (SCD) patients who have chronic pain present with multiple comorbidities atypical to traditional SCD diagnosis. These patients are older, use more opioids, and show signs of elevated tryptase levels, which could be an indicator of increased mast cell activation.
New Video Resource – STILL STANDING a story of courage, strength and faith
When Toyin Adesola was 6, a visit to the hospital confirmed that she was born with Sickle Cell Disorder. It was a discovery that would change her life forever.
In Nigeria, 150,000 babies are born every year with Sickle Cell Anaemia. Nigeria has the highest number of Sickle Cell cases in the world, and quite a number of these SCD patients die before reaching their reproductive age.
Those who survive face stigma, rejection from society and even parents, and some, due to SCD related complications, end up with permanent disabilities that prevent them from getting gainful employment and living a full life.
Life for Toyin became an unending cycle of hospital visits, surgeries and blood transfusions. One of those visits would end in a near-death experience that left a permanent disability on young Toyin.
“My greatest fear was that I would just die…without achieving anything…”
Toyin’s decision to confront her deepest fear is at the heart of this story. From fighting to go back to school, to finding God, and turning her crutch into a support system for other people living with SCD, this is the story of courage, faith, and the dogged determination of one woman to live a full life, and “die empty”.
JB Multimedia Studios presents
A Free Spirit Film Directed by Joel ‘Kachi Benson
For further information and to find out how you can view a full version of the film please contact: Iyamide Thomas at Email: [log in to unmask]
Sickle cell in the Medical Literature
1. BMJ Clin Evid. 2016 Jan 22;2016. pii: 2402. Sickle cell disease.
Meremikwu MM1, Okomo U.
Sickle cell disease causes chronic haemolytic anaemia, dactylitis, and painful acute crises. It also increases the risk of stroke, organ damage, bacterial infections, and complications of blood transfusion. In sub-Saharan Africa, up to one third of adults are carriers of the defective sickle cell gene, and 1% to 2% of babies are born with the disease.
METHODS AND OUTCOMES:
We conducted a systematic overview, aiming to answer the following clinical question: What are the effects of pharmaceutical interventions to prevent sickle cell crisis and other acute complications in people with sickle cell disease? We searched: Medline, Embase, The Cochrane Library, and other important databases up to January 2015 (Clinical Evidence overviews are updated periodically; please check our website for the most up-to-date version of this overview).
At this update, searching of electronic databases retrieved 369 studies. After deduplication and removal of conference abstracts, 136 records were screened for inclusion in the overview. Appraisal of titles and abstracts led to the exclusion of 99 studies and the further review of 37 full publications. Of the 37 full articles evaluated, three already included systematic reviews were updated, two systematic reviews, two RCTs, and one subsequent RCT were added at this update. We performed a GRADE evaluation for 12 PICO combinations.
In this systematic overview, we categorised the efficacy for five interventions based on information about the effectiveness and safety of antibiotic prophylaxis in children aged under 5 years, antibiotic prophylaxis in children aged 5 years or older, hydroxyurea, malaria chemoprophylaxis, and pneumococcal vaccines.
PMID: 26808098 [PubMed – in process]
3. Am J Hematol. 2016 Jan 22. doi: 10.1002/ajh.24307. [Epub ahead of print] Maternal opioid dose is associated with neonatal abstinence syndrome in children born to women with sickle cell disease.
Shirel T1, Hubler CP2, Shah R1, Rankin AB1, Koch KL1, Sheth D2, Uhing MR3, Jones CW4, Field JJ1,2.
The objective of this study was to test the hypothesis that higher daily opioid dose is associated with the presence and severity of neonatal abstinence syndrome (NAS) in pregnant women with sickle cell disease (SCD). This was a retrospective study of pregnant women with SCD who required opioids. NAS was evaluated using the Finnegan scoring system and classified as none, mild and severe. Severe NAS was defined as a Finnegan score ≥ 8 on 3 consecutive tests. Thirty-four pregnancies were examined in 30 women with SCD. Higher daily morphine dose was associated with a higher percentage of days in the hospital during pregnancy (P<0.001). Hospital days contributed disproportionately to daily morphine dose as larger amounts of opioids were administered in the hospital compared to home (P=0.002). Median maternal oral morphine dose was 416 mg for infants with severe NAS compared to 139 mg for those with mild NAS (P=0.04). For infants with no NAS, median maternal morphine was 4 mg, significantly less than those with mild NAS (P<0.001). Infants born to women who used on average more than 200 mg/day of oral morphine equivalent in the last month of pregnancy had a 13-fold increased risk of severe NAS compared to those who used less than 200 mg/day. These data demonstrate that higher median daily opioid dose is associated with progressively more severe NAS in pregnant women with SCD. Strategies to decrease pain and avoid hospitalizations are needed to reduce opioid use and NAS. This article is protected by copyright. All rights reserved.
© 2016 Wiley Periodicals, Inc.
PMID: 26799428 [PubMed – as supplied by publisher]
4. Pediatr Blood Cancer. 2016 Jan 21. doi: 10.1002/pbc.25894. [Epub ahead of print] Hydroxyurea use in Children with Sickle Cell Disease: Do Severely Affected Patients Use It and Does It Impact Hospitalization Outcomes?
Creary SE1, Chisolm DJ1, Koch TL1, Zigmont VA2, Lu B3, O’Brien SH1.
Expert guidelines recommend that hydroxyurea (HU) be offered to all children with hemoglobin SS and Sβ0 sickle cell disease (SCD) and be considered for children with clinically severe hemoglobin SC or Sβ+ . This study aims to determine the rate of HU use in hospitalized children, if HU is differentially used in children with clinically severe SCD, and if HU users have shorter length of stay (LOS), fewer intensive care unit (ICU) admissions, and fewer inpatient transfusions compared to nonusers.
Using the Pediatric Health Information System, we performed a retrospective analysis of children ages 2-18 years with SCD discharged between January 1, 2011 and September 30, 2014. We defined patients as having clinically severe SCD if they had a recent ICU admission or ≥3 admissions in the preceding year.
Of the 2,665 unique children identified, approximately 80% had an inpatient code indicating HU use. Significantly more (p < 0.001) nonusers (30.1%) had a recent ICU admission compared to HU users (18.7%). More nonusers (33.9%) had a history of ≥3 admissions compared to HU users (21.5%) (p < 0.001). After applying propensity score weighting, the groups did not differ in their LOS, prevalence of ICU admissions, or prevalence of transfusions.
HU use is high among hospitalized children with SCD. However, HU is not utilized by many children with clinically severe SCD. These results support that HU be considered in children with SCD to prevent hospitalization rather than as a treatment to improve hospitalization outcomes.
© 2016 Wiley Periodicals, Inc.
PMID: 26797936 [PubMed – as supplied by publisher]
5. West J Nurs Res. 2016 Jan 19. pii: 0193945915625065. [Epub ahead of print] Spirituality and Religiosity in Adolescents Living With Sickle Cell Disease.
Clayton-Jones D1, Haglund K2, Belknap RA2, Schaefer J2, Thompson AA3.
This study purports to address paucity in the literature regarding how adolescents with sickle cell disease (SCD) describe and experience spirituality and religiosity (S/R). This was a qualitative descriptive study. Two semi-structured interviews were conducted with nine adolescents (Mage = 16.2 years). Data were analyzed using a template analysis style and a concurrent analysis process of data reduction. Three major themes encompassed the participants’ descriptions of the relationships between S/R, health and illness in their lives including S/R as sources for coping, influence of S/R beliefs on health and illness, and sharing S/R with Health Care Providers (HCPs). S/R as coping mechanisms included six threads: interconnecting with God, interconnecting with others, interconnecting with creative arts, scriptural metanarratives, transcendent experiences, and acceptance and finding meaning. Expectations of health providers included two threads: Religiosity is private/personal and sharing spiritual and religious beliefs is risky. S/R are particularly salient for adolescents with SCD.
© The Author(s) 2016.
PMID: 26792855 [PubMed – as supplied by publisher]
6. PLoS One. 2016 Jan 19;11(1):e0147081. doi: 10.1371/journal.pone.0147081. eCollection 2016. Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
Upadhye DS1, Jain DL2, Trivedi YL2, Nadkarni AH1, Ghosh K1, Colah RB1.
Sickle cell disease (SCD) is a major health burden in India. The objective of the study was to establish a neonatal screening program and to understand the clinical course of children with SCD in central India.
METHODS AND FINDINGS:
Pregnant mothers were screened for sickle hemoglobin using the solubility test. Babies were screened by high performance liquid chromatography if the mother was positive for sickle hemoglobin. The diagnosis was confirmed by molecular analysis. They received early prophylactic treatment and vaccination. Of 2134 newborns screened, 104 were sickle homozygous (SS), seven had sickle β-thalassemia (S-β thal) and 978 were sickle heterozygous (AS). The other hemoglobin abnormalities detected included HbS -δβ thalassemia-1, HbSD disease-2, HbE traits-5, β-thalassemia traits-4, alpha chain variants-3 and HbH disease-1.These babies were followed up regularly for hematological and clinical evaluation. Pain, severe anemia requiring blood transfusions and acute febrile illness were the major complications with 59.7, 45.1 and 42.6 cases per 100 person years. Fetal hemoglobin (HbF) levels were inversely associated with vaso-oclussive crisis (VOC) and severe anemia while presence of alpha thalassemia increased the rate of painful events and sepsis. Six early deaths occurred among the SS babies.
A systematic follow up of this first newborn SCD cohort in central India showed that 47% of babies presented within 1 year of age. In spite of the presence of the Arab-Indian haplotype many babies had severe manifestations.
PMID: 26785407 [PubMed – in process]
7. Blood Rev. 2015 Dec 24. pii: S0268-960X(15)00096-X. doi: 10.1016/j.blre.2015.12.003. [Epub ahead of print] Coagulation abnormalities of sickle cell disease: Relationship with clinical outcomes and the effect of disease modifying therapies.
Noubouossie D1, Key NS1, Ataga KI2.
Sickle cell disease (SCD) is a hypercoagulable state. Patients exhibit increased platelet activation, high plasma levels of markers of thrombin generation, depletion of natural anticoagulant proteins, abnormal activation of the fibrinolytic system, and increased tissue factor expression, even in the non-crisis “steady state.” Furthermore, SCD is characterized by an increased risk of thrombotic complications. The pathogenesis of coagulation activation in SCD appears to be multi-factorial, with contributions from ischemia-reperfusion injury and inflammation, hemolysis and nitric oxide deficiency, and increased sickle RBC phosphatidylserine expression. Recent studies in animal models suggest that activation of coagulation may contribute to the pathogenesis of SCD, but the data on the contribution of coagulation and platelet activation to SCD-related complications in humans are limited. Clinical trials of new generations of anticoagulants and antiplatelet agents, using a variety of clinical endpoints are warranted.
Copyright © 2015 Elsevier Ltd. All rights reserved.
PMID: 26776344 [PubMed – as supplied by publisher]
8. J Adv Nurs. 2016 Jan 15. doi: 10.1111/jan.12895. [Epub ahead of print] A randomized controlled pilot study feasibility of a tablet-based guided audio-visual relaxation intervention for reducing stress and pain in adults with sickle cell disease.
Ezenwa MO1,2, Yao Y1, Engeland CG3, Molokie RE4,5, Wang ZJ6, Suarez ML1,Wilkie DJ7,8.
To test feasibility of a guided audio-visual relaxation intervention protocol for reducing stress and pain in adults with sickle cell disease.
Sickle cell pain is inadequately controlled using opioids, necessitating further intervention such as guided relaxation to reduce stress and pain.
Attention-control, randomized clinical feasibility pilot study with repeated measures.
Randomized to guided relaxation or control groups, all patients recruited between 2013-2014 during clinical visits, completed stress and pain measures via a Galaxy Internet-enabled Android tablet at the Baseline visit (pre/post intervention), 2-week posttest visit and also daily at home between the two visits. Experimental group patients were asked to use a guided relaxation intervention at the Baseline visit and at least once daily for 2 weeks. Control group patients engaged in a recorded sickle cell discussion at the Baseline visit. Data were analysed using linear regression with bootstrapping.
At baseline, 27/28 of consented patients completed the study protocol. Group comparison showed that guided relaxation significantly reduced current stress and pain. At the 2-week posttest, 24/27 of patients completed the study, all of whom reported liking the study. Patients completed tablet-based measures on 71% of study days (69% in control group, 72% in experiment group). At the 2-week posttest, the experimental group had significantly lower composite pain index scores, but the two groups did not differ significantly on stress intensity.
This study protocol appears feasible. The tablet-based guided relaxation intervention shows promise for reducing sickle cell pain and warrants a larger efficacy trial.
The ClinicalTrials.gov Identifier is: NCT02501447.
© 2016 John Wiley & Sons Ltd.
PMID: 26768753 [PubMed – as supplied by publisher]
9. Cytokine. 2016 Mar;79:52-8. doi: 10.1016/j.cyto.2015.12.022. Epub 2016 Jan 5. Soluble Fas/FasL ratio as a marker of vasculopathy in children and adolescents with sickle cell disease.
Adly AA1, Ismail EA2, Andrawes NG1, Mahmoud MM1, Eladawy R1.
Sickle cell disease (SCD) is characterized by chronic inflammation due to ischemic tissue damage, accentuated during acute complications. Fas and its ligand (FasL) are members of tumor necrosis factor receptor superfamily and a major pathway for induction of apoptosis. Fas/FasL interactions may be related to augmentation of inflammatory response. We assessed the levels of sFas and sFasL in 35 children and adolescents with SCD compared with 35 healthy controls in relation to hemolysis, iron overload, sickle vasculopathy including kidney disease.
SCD patients, in steady state and asymptomatic for pulmonary hypertension, were studied stressing on hydroxyurea therapy, serum ferritin, urinary albumin creatinine ratio (UACR), high-sensitivity C-reactive protein (hs-CRP) and sFas/sFasL levels.
sFas/sFasL ratio was significantly higher in patients compared with controls. sFas/sFasL ratio was elevated in patients with pulmonary hypertension, nephropathy and those who had history of frequent sickling crisis or serum ferritin ⩾2500. SCD patients treated with hydroxyurea had lower sFas/sFasL ratio than untreated patients. sFas/sFasL ratio was positively correlated to transfusion index, white blood cells, hs-CRP, serum ferritin and UACR. The cutoff value of sFas/sFasL at 8.75pg/mL could differentiate SCD patients with and without nephropathy while the cutoff value at 22pg/mL could differentiate SCD patients with and without pulmonary hypertension risk with high sensitivity and specificity.
sFas/sFasL ratio may be considered as a marker for vascular dysfunction in SCD patients and is related to inflammation, iron overload and albuminuria level. Thus, it may be a reliable method to assess renal impairment in SCD.
Copyright © 2015 Elsevier Ltd. All rights reserved.
PMID: 26765484 [PubMed – in process]
10. Am Fam Physician. 2015 Dec 15;92(12):1069-76. Management of Sickle Cell Disease: Recommendations from the 2014 Expert Panel Report.
Yawn BP1, John-Sowah J2.
Family physicians are the primary and sometimes only health care resource for families affected by sickle cell disease. Recently published guidelines provide important recommendations for health maintenance, acute care, and monitoring of disease-modifying therapy in persons with this condition. This overview highlights some of the most important clinical activities that can and should be carried out in the community care setting. Children with sickle cell anemia should receive prophylactic penicillin from birth through at least five years of age, and all persons with sickle cell disease require vaccination to prevent invasive pneumococcal disease. Annual screening with transcranial Doppler ultrasonography is recommended for all children with sickle cell disease beginning at two years of age and continuing through adolescence to evaluate the risk of stroke and to initiate transfusion therapy in those at high risk. Vasoocclusive crises require immediate and adequate analgesia appropriate to the level of patient-reported pain. Antibiotics, hospitalization, and incentive spirometry are indicated for those with acute chest syndrome. There is strong evidence to support the promotion and use of hydroxyurea therapy in patients nine months and older who have sickle cell anemia because its use can decrease the frequency of vasoocclusive crises and acute chest syndrome with limited adverse effects.
PMID: 26760593 [PubMed – in process]
11. Blood. 2016 Jan 12. pii: blood-2015-09-618553. [Epub ahead of print] Beyond hydroxyurea: new and old drugs in the pipeline for sickle cell disease.
Despite FDA approval of hydroxyurea to reduce the frequency of vaso-occlusive episodes, sickle cell disease has continued to be treated primarily with analgesics for pain relief. However, elucidation of the multiple pathophysiologic mechanisms leading to vaso-occlusion and tissue injury in sickle cell disease has now resulted in a burgeoning effort to identify new treatment modalities to prevent or ameliorate the consequences of the disease. Development of new drugs as well as investigation of drugs previously used in other settings have targeted cell adhesion, inflammatory pathways, upregulation of hemoglobin F, hemoglobin polymerization and sickling, coagulation and platelet activation. While these efforts have not yet yielded drugs ready for FDA approval, several early studies have been extremely encouraging. Moreover, the marked increase in clinical pharmaceutical research addressing sickle cell disease and the new and old drugs in the pipeline make it reasonable to expect that we will soon have new treatments for sickle cell disease.
Copyright © 2016 American Society of Hematology.
PMID: 26758919 [PubMed – as supplied by publisher]
12. Blood. 2016 Jan 12. pii: blood-2015-08-618561. [Epub ahead of print] Pathophysiology and treatment of pulmonary hypertension in sickle cell disease.
Gordeuk VR1, Castro OL2, Machado R3.
Pulmonary hypertension (PH) affects approximately 10% of adult patients with sickle cell disease (SCD), particularly those with the homozygous genotype. An increase in pulmonary artery systolic pressure, estimated noninvasively by echocardiography, helps identify SCD patients at risk for PH but definitive diagnosis requires right heart catheterization. About half of SCD-related PH patients have pre-capillary PH with potential etiologies of 1) an NO deficiency state and vasculopathy consequent to intravascular hemolysis, 2) chronic pulmonary thromboembolism, or 3) upregulated hypoxic responses secondary to anemia, low O2 saturation and microvascular obstruction. The remainder have post-capillary PH secondary to left ventricular dysfunction. Though the pulmonary artery pressure in SCD patients with PH is only moderately elevated, they have a markedly higher risk of death than patients without PH. Guidelines for diagnosis and management of SCD-related PH were published recently by the American Thoracic Society. Management of adults with sickle-related PH is based on anti-coagulation for those with thromboembolism, oxygen therapy for those with low oxygen saturation, treatment of left ventricular failure in those with post-capillary PH, and hydroxyurea or transfusions to raise the hemoglobin concentration, reduce hemolysis, and prevent vaso-occlusive events that cause additional increases in pulmonary pressure. Randomized trials have not identified drugs to lower pulmonary pressure in SCD patients with pre-capillary PH. Patients with hemodynamics of pulmonary arterial hypertension should be referred to specialized centers and considered for treatments known to be effective in other forms of pulmonary arterial hypertension. There have been reports that some of these treatments improve SCD-related PH.
Copyright © 2016 American Society of Hematology.
PMID: 26758918 [PubMed – as supplied by publisher]
13. Blood. 2016 Jan 12. pii: blood-2015-09-618579. [Epub ahead of print] Central nervous system complications and management in sickle cell disease: a review.
DeBaun MR1, Kirkham FJ2.
With advances in brain imaging and completion of randomized clinical trials (RCTs) for primary and secondary stroke prevention, the natural history of central nervous system (CNS) complications in sickle cell disease (SCD) is evolving. In order of current prevalence the primary CNS complications include silent cerebral infarcts (39% by 18 years), headache (both acute and chronic: 36% in children with sickle cell anemia (SCA), ischemic stroke (as low as 1% in children with SCA with effective screening and prophylaxis, but ~11% in children with SCA without screening) and hemorrhagic stroke in children and adults with SCA, 3% and 10%, respectively. In high income countries RCTs (STOP, STOP II) have demonstrated that regular blood transfusion therapy (typically monthly) achieves primary stroke prevention in children with SCA and high transcranial Doppler (TCD) velocities; after at least a year, hydroxycarbamide may be substituted (TWiTCH). Also in high income countries, RCTs have demonstrated that regular blood transfusion is the optimal current therapy for secondary prevention of infarcts for children with SCA and strokes (SWiTCH), or silent cerebral infarcts (SIT). For adults with SCD, CNS complications continue to be a major cause of morbidity and mortality, with no evidence-based strategy for prevention.
Copyright © 2016 American Society of Hematology.
PMID: 26758917 [PubMed – as supplied by publisher]
14. Blood. 2016 Jan 12. pii: blood-2015-09-618587. [Epub ahead of print] Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease.
Hoban MD1, Orkin SH2, Bauer DE1.
Effective medical management for sickle cell disease (SCD) remains elusive. As a prevalent and severe monogenic disorder, SCD has been long considered a logical candidate for gene therapy. Significant progress has been made in moving toward this goal. These efforts have provided substantial insight into the natural regulation of the globin genes and illuminated challenges for genetic manipulation of the hematopoietic system. The initial γ-retroviral vectors, next-generation lentiviral vectors, and novel genome engineering and gene regulation approaches each share the goal of preventing erythrocyte sickling. After years of preclinical studies, several clinical trials for SCD gene therapies are now open. This review focuses on progress made toward achieving gene therapy, the current state of the field, consideration of factors that may determine clinical success, and prospects for future development.
Copyright © 2016 American Society of Hematology.
PMID: 26758916 [PubMed – as supplied by publisher]
15. Blood. 2016 Jan 12. pii: blood-2015-09-618538. [Epub ahead of print] Neutrophils, platelets, and inflammatory pathways, at the nexus of sickle cell disease pathophysiology.
Zhang D1, Xu C2, Manwani D3, Frenette PS4.
Sickle cell disease (SCD) is a severe genetic blood disorder characterized by hemolytic anemia, episodic vaso-occlusion and progressive organ damage. Current management of the disease remains symptomatic or preventative. Specific treatment targeting major complications such as vaso-occlusion is still lacking. Recent studies have identified various cellular and molecular factors that contribute to the pathophysiology of SCD. Here we review the role of these elements and discuss the opportunities for therapeutic intervention.
Copyright © 2016 American Society of Hematology.
PMID: 26758915 [PubMed – as supplied by publisher]
16. J Blood Med. 2015 Dec 15;6:285-90. doi: 10.2147/JBM.S97405. eCollection 2015. Hydroxyurea decreases hospitalizations in pediatric patients with Hb SC and Hb SB+ thalassemia.
Lebensburger JD1, Patel RJ1, Palabindela P1, Bemrich-Stolz CJ1, Howard TH1,Hilliard LM1.
Patients with hemoglobin SC (Hb SC) and hemoglobin SB+ (Hb SB+) thalassemia suffer from frequent hospitalizations yet strong evidence of a clinical benefit of hydroxyurea (HU) in this population is lacking. Patients with recurrent hospitalizations for pain crisis are offered HU at our institution based on small cohort data and anecdotal benefit. This study identifies outcomes from a large cohort of patients with Hb SC and SB+ thalassemia who were treated with HU for 2 years.
MATERIALS AND METHODS:
A retrospective review was conducted of 32 patients with Hb SC and SB+ thalassemia who were treated with HU. We reviewed the number, and reasons for hospitalization in the 2 years prior to, and 2 years post-HU treatment as well as laboratory changes from baseline, over 1 year.
Patients with Hb SC and SB+ thalassemia started on HU for frequent pain, had a significant reduction in hospitalizations over 2 years as compared to the 2 years prior to HU initiation (mean total hospitalizations/year: pre-HU: 1.6 vs post-HU 0.4 hospitalizations, P<0.001; mean pain hospitalizations/year: pre-HU 1.5 vs post-HU 0.3 hospitalizations, P<0.001). Patients demonstrated hematologic changes including an increase in percent fetal hemoglobin (%HbF) pre-post HU (4.5% to 7.7%, P=0.002), mean corpuscular volume (74 to 86 fL, P<0,0001), and decrease in absolute neutrophil count (5.0 to 3.2×10(9)/L, P=0.007). Patients with higher doses of HU demonstrated the greatest reduction in hospitalizations but this was unrelated to absolute neutrophil count.
This cohort of patients with Hb SC and SB+ thalassemia provides additional support for using HU in patients with recurrent hospitalizations for pain. A large randomized multicenter trial of HU to reduce pain admissions should be conducted to confirm these data and provide much needed evidence based recommendations for this population.
PMCID: PMC4687721 Free PMC Article
PMID: 26719735 [PubMed]
17. J Pediatr Psychol. 2015 Dec 30. pii: jsv120. [Epub ahead of print] Applicability of the SMART Model of Transition Readiness for Sickle-Cell Disease.
Mulchan SS1, Valenzuela JM2, Crosby LE3, Diaz Pow Sang C4.
This study aimed to examine the applicability of the Social-ecological Model of Adolescent and Young Adult Readiness to Transition (SMART) model for adolescents and young adults (AYA) with sickle-cell disease (SCD). METHODS: 14 AYA with SCD (14-24 years old) and 10 clinical experts (6-20 years of experience) completed semi-structured interviews. AYA completed brief questionnaires. Interviews were coded for themes, which were reviewed to determine their fit within the SMART model. RESULTS: Overall, most themes were consistent with the model (e.g., sociodemographics/culture, neurocognition/IQ, etc.). Factors related to race/culture, pain management, health-care navigation skills, societal stigma, and lack of awareness about SCD were salient for AYA with SCD. CONCLUSIONS: Findings suggest the SMART model may be appropriate in SCD with the consideration of disease-related stigma. This study is a step toward developing a disease-specific model of transition readiness for SCD. Future directions include the development of a measure of transition readiness for this population.
© The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: [log in to unmask]
PMID: 26717957 [PubMed – as supplied by publisher]
Sickle Cell Conferences and Events
Hemoglobinopathy Counselor Training Course will be held on April 7-8, 2016. The two-day course, presented by the Cincinnati Comprehensive Sickle Cell Center, will be held at Cincinnati Children’s Hospital Medical Center. The course registration fee is $150. The deadline to register is March 24, 2016 and registration is limited. For more information, including a course brochure, please email: [log in to unmask] Registration is also available online at www.regonline.com/2016scdcounselorcourse
Event: Sickle Cell in Focus (SCiF) 2016, National Institutes of Health, Bethesda, Maryland, USA
Date: Thursday 2nd – Friday 3rd June 2016
Venue: Natcher Conference Centre, National Institutes of Health, Bethesda, MD 20894 USA
The 10th Sickle Cell in Focus conference returns to the USA in June 2016. Sickle Cell in Focus is an internationally renowned educational update for sickle cell disease. It attracts a wide audience of clinicians, academics and other healthcare professionals involved in the disease from around the world.
To book: Free registration will be opening soon. Contact details: @STSTNetwork / www.ststn.co.uk