Reproductive Behaviour of Couples at Risk for Sickle Cell Disease in Cuba: a Follow-Up Study

1997 ◽  
Vol 17 (8) ◽  
pp. 737-742 ◽  
Author(s):  
Aida Dorticós-Balea ◽  
Marcos Martin-Ruiz ◽  
Piedad Hechevarria-Fernández ◽  
Martha S. Robaina-Castellanos ◽  
Manuel Rodriguez-Blanco ◽  
...  
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Reproductive Behaviour ◽  
Cell Disease ◽  
Follow Up Study

scholarly journals Cumulative Incidences and Risk Factors for Intra and Extracranial Cerebral Arteriopathy in Sickle Cell Disease Children

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 56-57
Author(s):  
Francoise Bernaudin ◽  
Suzanne Verlhac ◽  
Cécile Arnaud ◽  
Annie Kamdem ◽  
Isabelle Hau ◽  
...  
Keyword(s):  
Risk Factors ◽  
At Risk ◽  
Risk Factor ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cumulative Incidence ◽  
Intracranial Stenosis ◽  
Cell Disease ◽  
Independent Risk Factors

In children with sickle cell disease (SCD), cerebral vasculopathy is responsible for overt strokes and silent cerebral infarcts (SCI). Transcranial Doppler (TCD) detects children at risk of strokes (intracranial time averaged mean of velocities (TAMV) ≥200cm/s). The extracranial portion of the internal carotid artery (eICA) can also be the site of stenosis or occlusion. eICA assessment requires cervical Doppler using a submandibular approach and cervical MRA (cMRA). We previously reported that eICA TAMV≥160cm/s are highly predictive of eICA stenosis and are a risk factor for SCI independently of acute and chronic anemia. However, the kinetics of eICA arteriopathy are unknown. The aim here was to evaluate and compare the cumulative incidence of intra/extracranial arteriopathy and associated risk factors in a longitudinal SCD cohort. Children born between 01/1988 and 01/ 2018, followed at our center at least until 06/2012 and up to 09/2019, annually assessed by TCD imaging and at least once by cervical Doppler were included, resulting in 493 SCD children (238F-255M) with 398 SCA (385SS,10Sb0,3SDPunjab), and 95 SC/Sb+ children (65SC,30Sb+). Alpha-genes, b-globin haplotypes, G6PD activity, CD36 expression were recorded. The average of baseline biologic parameters recorded between 1 and 3 years of age, a minimum of 3 months away from transfusion, 1 month from a painful episode, and before any intensive therapy was calculated. The median (range) follow-up of the overall cohort was 10.6 years (1.1-22.9), providing 5335 patient-years of follow-up. Six deaths occurred (5 SCA-children at 2, 4, 7, 19 & 20 years and 1 in SB+ patient at 13 years). Three SS patients had an ischemic stroke at 1.5, 3 and 4.3 years. Kaplan-Meier estimates of cumulative incidence (95%CI) are shown (Figure). In SCA-children, abnormal eICA TAMV and/or eICA stenosis were sometimes associated with abnormal intracranial TAMV and/or stenosis, but isolated eICA TAMV≥200cm/s or 160-199cm/s were observed in 19 (4.8%) and 28/398 (7.0%) patients, respectively, and isolated eICA stenoses in 33/294 (11.2%).Thus, risk factors were only analyzed in patients with isolated intra- or extracranial arteriopathy. COX regression analyses are shown (Table). For isolated intracranial TAMV≥200cm/s, multivariate analyses after introducing all significant genetic and biological risk factors retained the number of SEN b-haplotypes [HR=0.547 (95%CI:0.335-0.893); p=0.016], reticulocyte count>400x109/L [HR=1.961 (95%CI:1.119-3.436); p=0.019], and WBC count>20x109/L [HR=2.410 (95%CI:1.340-4.329); p=0.003] as independent risk factors. Isolated eICA TAMV≥160 cm/s were only strongly associated with the presence of tortuosities [HR=8.6 (95%CI :4.3-17.2); p<0.001]. eICA tortuosities were present in 94/284 (33.1%) SCA vs 5/43 (11.6%) SC/Sb+ children (p=0.004), most often seen at the first cMRA but secondarily in 16 patients. Multivariate COX analysis retained genotype [HR/SCA vs SC/Sb+ = 3.6 (95%CI:1.4-9.4); p=0.010], low hemoglobin [HR=1.25 (95%CI:1.04-1.50); p=0.020], and high LDH [HR=1.002 (95%CI:1.001-1.002); p=0.001], as independent risk factors for eICA tortuosities. As expected, the risk of intracranial stenosis was significantly associated with isolated intracranial TAMV≥200 cm/s [HR (95%CI)=4 .255 (2.146-8.475); p<0.001]. After adjustment with isolated intracranial TAMV≥200 cm/s, a-thalassemia, low hemoglobin, high WBC, MCV and LDH remained as significant, but not independent, risk factors for intracranial stenosis. The risk for eICA stenosis was only highly associated with the presence of tortuosities [HR=10.9 (95%CI:4.7-25.0); p<0.001], or a history of eICA≥160cm/s [HR=15.4 (95%CI :7.5-31.2); p<0.001]. This study reports eICA arteriopathy kinetics using a longitudinal cohort of SCD children systematically assessed by Doppler and cMRA. While we confirm that only SCA and not SC/Sb+ children are at risk of intra/extracranial arteriopathy, we show for the first time that extracranial arteriopathy progressively develops as early as 2 years old in SCA-children and reaches a plateau around 10 years of age, as for intracranial arteriopathy. Furthermore, eICA tortuosities, which are the risk factor for eICA arteriopathy, are themselves significantly and independently associated with the SCA genotype and the severity of hemolytic anemia. Figure Disclosures Bernaudin: BlueBirdBio: Consultancy; AddMedica: Honoraria, Other; GBT: Membership on an entity's Board of Directors or advisory committees. Verlhac:BlueBirdBio: Consultancy; AddMedica: Honoraria.

scholarly journals Efficacy of autologous stem cell-based therapy for osteonecrosis of the femoral head in sickle cell disease: a five-year follow-up study

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Gildasio Cerqueira Daltro ◽  
Vitor Fortuna ◽  
Eliane Silva de Souza ◽  
Marcela Miranda Salles ◽  
Ana Claudia Carreira ◽  
...  
Keyword(s):  
Stem Cell ◽  
Femoral Head ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Follow Up Study ◽  
Cell Based Therapy

Survival of Children with Sickle Cell Disease: An Update from the Dallas Newborn Cohort.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3812-3812
Author(s):  
Charles T. Quinn ◽  
Nancy J. Lee ◽  
Zora R. Rogers ◽  
George R. Buchanan
Keyword(s):  
At Risk ◽  
Overall Survival ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Standard Error ◽  
Additional Patient ◽  
Acute Chest Syndrome ◽  
Cell Disease

Abstract The Dallas Newborn Cohort is the largest newborn inception cohort of individuals who have sickle cell disease (SCD), and it has provided modern pediatric SCD survival data (Blood2004;103:4023–7). The Cohort includes subjects who were diagnosed at birth by universal newborn screening and followed at our center up to 18 years of age. All subjects with sickle cell anemia (SS) or sickle-β° thalassemia (Sβ°) were prescribed prophylactic penicillin until 5 years of age. The first report from the Cohort showed an overall survival of 85.6% at 18 years for individuals with SS or Sβ°. The standard error of this estimate was high because only 8 individuals remained at risk at 18 years of age at the time of the analysis, which included follow-up until July 2002. Accrual and follow-up of cohort members has continued. We therefore sought to update the survival estimates through age 18 by including three further years of follow-up. By definition the Dallas Newborn Cohort includes all individuals with SS, Sβ°, sickle-hemoglobin C disease (SC), or sickle-β+-thalassemia (Sβ+) who were born in Texas after November 1, 1983, diagnosed by the newborn screening program of Texas, and seen at least once in our center. New members of the Cohort who came to our center between July 2002 and July 2005 were identified. Follow-up of existing members was updated. All deaths and their causes were determined. Subjects were analyzed in two separate groups because of known clinical similarities: SS/Sβ° and SC/Sβ+. Overall survival was analyzed by the Kaplan-Meier method. Subjects were censored at the time of their last clinical encounter. We identified 115 new subjects, and included 1627 additional patient-years of follow-up. The cohort now includes 826 subjects (SS 503, Sβ° 18, SC 247, Sβ+ 58; male:female 427:399) and it provides 7275 patient-years of follow-up. Mean follow-up was 8.9 years (range 0.9–19.5 years). 62 patients (7.5%) were lost to follow-up. There were 25 deaths in the cohort; none was new and all were previously reported. Of the deaths, 15 were likely related to SCD (5 sepsis, 3 acute chest syndrome, 2 multi-organ failure syndrome, 5 other) and 10 were apparently unrelated to SCD (4 trauma or accidental death, 6 other diseases). There were 22 and 3 deaths in the SS/Sβ° and SC/Sβ+ groups, respectively. All the SC/Sβ+ deaths were apparently unrelated to SCD. Overall survival at 18 years for SS/Sβ° and SC/Sβ+ subjects was 92.4% (standard error [SE] 1.9; 52 at risk) and 98.1% (SE 1.3; 12 at risk), respectively. The overall incidence of death through 18 years of age was 0.46 and 0.12 per 100 patient-years, respectively. In conclusion, this updated survival analysis of the Dallas Newborn Cohort now shows that over 90% of children with SS/Sβ° survive childhood, and nearly 100% of children with SC/Sβ+ become adults.

Outpatient Follow-up and Rehospitalization for Sickle Cell Disease in Wisconsin Medicaid.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 2489-2489
Author(s):  
Jack M Leschke ◽  
Julie A. Panepinto ◽  
Raymond G Hoffmann ◽  
Ke Yan ◽  
David Brousseau
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Disease Severity ◽  
Sickle Cell ◽  
Outpatient Visit ◽  
Index Hospitalization ◽  
Cell Disease ◽  
Outpatient Visits ◽  
Sickle Cell Crisis

Abstract Abstract 2489 Poster Board II-466 Elevated hospitalization rates for patients with sickle cell disease are largely a result of frequent vaso-occlusive crises. Recent hospital utilization concerns have placed increasing emphasis on rehospitalization as a cost saving and quality of care measure. For sickle cell disease, 30 day rehospitalization has become a benchmark for care quality. Previous reports have shown 30 day rehospitalization rates as high as 30-47% and propose outpatient follow-up as a preventive measure. However, these studies have been limited to single centers and have focused only on specific age groups. Our study sought to examine the efficacy of outpatient follow-up on 30 day rehospitalization prevention across all ages in a statewide Medicaid program. We hypothesized that a post-discharge outpatient visit is associated with lower rehospitalization rates for patients with sickle cell disease. The study is a retrospective cohort using Wisconsin Medicaid claims data for hospitalized children and adults with sickle cell disease from January 1, 2003 to December 31, 2007. Patients at risk for rehospitalization were identified using sickle cell disease-related ICD-9 diagnosis codes (28241, 28242, 28260-28269) at inpatient discharge. The first hospitalization with a sickle cell diagnosis for each individual was extracted and then only those hospitalizations with a diagnosis of sickle cell crisis (28242, 28262, 28264, 28269) were included. Each patient participated in the study only once. The main outcome measure was a rehospitalization within 30 days of discharge from the previous hospitalization. Individuals were considered to have had an outpatient follow-up visit based on a claim for an outpatient visit within 30 days of discharge or prior to a rehospitalization if the rehospitalization occurred in fewer than 30 days. Outpatient visits that occurred on the same day as the rehospitalization were not included. Outpatient visits were calculated as rates to avoid the bias of those not being rehospitalized having more time for an outpatient visit. Multiple logistic regression was performed to evaluate the association between having an outpatient visit, disease severity, and asthma on the outcome of rehospitalization. Severe cases were defined as individuals with 3 or more hospitalizations within 1 year beginning 2 months after the index hospitalization. Patients were excluded from our study if the index hospitalization resulted in death, as they were not at risk for rehospitalization. Four hundred and eight patients with a hospitalization for sickle cell crisis were included in the analysis. Of these 408 patients, 70 (17%) were rehospitalized within 30 days following discharge from the index hospitalization. Of the 70 re-hospitalized patients, 35 (50%) were re-hospitalized within 11 days, and 54 (77%) were rehospitalized within 22 days from discharge. Multiple regression revealed that severe disease was associated with rehospitalization (4.693, 95% CI (2.674, 8.236)), but neither the outpatient visit rate (OR 0.970, 95% CI (0.367, 2.560)) nor a diagnosis of asthma (OR 0.862, 95% CI (0.467, 1.592)) were associated with rehospitalization. Of note, when the unadjusted analysis using the simple existence of an outpatient visit prior to rehospitalization was used, outpatient visits did show an association with decreased rehospitalizations; however this association was no longer significant when adjusted for the increased time for an outpatient visit in those not rehospitalized within 30 days. Contrary to our hypothesis, outpatient follow-up was not associated with fewer rehospitalizations in our study, when the outpatient follow-up rate was used to correct for the increased time for outpatient visits in those not rehospitalized. Disease severity was found to be the only statistically significant predictor of rehospitalization for patients with sickle cell disease. Disclosures: No relevant conflicts of interest to declare.

Screening of the Mother During Early Pregnancy

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 884-885
Author(s):  
Yolanda Rooks
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Screening Program ◽  
Medical Center ◽  
Medical Community ◽  
Cell Disease ◽  
Sample Collection ◽  
The Family

Screening for the early diagnosis of sickle cell disease has been advocated as essential for reducing infant mortality and morbidity. The provision of comprehensive and preventive care optimizes the chance for a longer and more healthy life by minimizing the detrimental complications that often occur in early life. Accordingly, the goals of early identification and intervention include preventing complications through the anticipation of medical problems, educating the family so that they become knowledgeable about sickle cell disease and how it may affect their child, and assisting the family in identifying specialized medical centers where appropriate care and follow-up will occur. MATERIALS AND METHODS The target population in New Haven, CT, was defined as black and Puerto Rican gravida women giving birth at Yale Medical Center. Screening these at-risk pregnant women and the fathers permitted prior identification of the newborn at risk. This was perceived to be a method of decreasing the number of cord blood specimens to be screened as well as increasing the yield. Screening guidelines mandated education, informed consent, and appropriate follow-up for parents whose infants were identified to be heterozygous or homozygous for a sickle variant. The protocols for sample collection and sample testing were established. Hemoglobin electrophoresis was performed by the following two techniques: (1) cellulose acetate at pH 8.4 and (2) citrate agar gel at pH 6.2. The latter technique facilitates the identification of Hb S and Hb C in the presence of large amounts of Hb F3. The screening program was introduced to the medical community and support staff.

PROGRAM EFFECTS ON DECREASING MORBIDITY AND MORTALITY

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 819-822
Author(s):  
Ranjeet Grover
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Standard ◽  
Disease Diagnosis ◽  
Test Results ◽  
Cell Disease ◽  
Test Procedures ◽  
The Public

Our experience demonstrates that the diagnosis of sickle cell disease at birth along with early intervention can reduce mortality among identified patients. However, accurate screening of newborns in the absence of a comprehensive follow-up program is of limited value. Our experience with trait follow-up indicates that couples at risk should be sought both by testing the parents of trait newborns and by testing the mothers in the prenatal period. Our recommendations are that programs for sickle cell screening of newborns should be structured on the basis of clearly defined goals and should ensure the following services: a newborn screening laboratory under strict quality control with backup facilities for special test procedures and interpretation of test results; an efficient and effective mechanism for recall of infants with presumptively positive results and referral of patients with the sickle cell disease diagnosis; treatment centers with a high standard of medical care to provide comprehensive care to patients with sickle cell disease and their families; skilled genetic counseling for the families of newborns with sickle cell disease and trait, including the information available concerning prenatal diagnosis for couples at risk; broadbased and ongoing education for professionals, paraprofessionals, and the public at large to enhance their understanding and cooperation; means to evaluate the effectiveness and success of the program in achieving the goals set forth.

scholarly journals Variability of Prognostic Results Based on Biological Parameters in Sickle Cell Disease Cohort Studies in Children: What Should Clinicians Know?

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 143
Author(s):  
Julie Sommet ◽  
Enora Le Roux ◽  
Bérengère Koehl ◽  
Zinedine Haouari ◽  
Damir Mohamed ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Sickle Cell Disease ◽  
Cohort Studies ◽  
Statistical Methods ◽  
Sickle Cell ◽  
Biological Parameters ◽  
Analysis Method ◽  
Cell Disease ◽  
Statistical Analysis Method

Background: Many pediatric studies describe the association between biological parameters (BP) and severity of sickle cell disease (SCD) using different methods to collect or to analyze BP. This article assesses the methods used for collection and subsequent statistical analysis of BP, and how these impact prognostic results in SCD children cohort studies. Methods: Firstly, we identified the collection and statistical methods used in published SCD cohort studies. Secondly, these methods were applied to our cohort of 375 SCD children, to evaluate the association of BP with cerebral vasculopathy (CV). Results: In 16 cohort studies, BP were collected either once or several times during follow-up. The identified methods in the statistical analysis were: (1) one baseline value per patient (2) last known value; (3) mean of all values; (4) modelling of all values in a two-stage approach. Applying these four different statistical methods to our cohort, the results and interpretation of the association between BP and CV were different depending on the method used. Conclusion: The BP prognostic value depends on the chosen statistical analysis method. Appropriate statistical analyses of prognostic factors in cohort studies should be considered and should enable valuable and reproducible conclusions.

scholarly journals Implementation of an Educational Intervention to Optimize Self-Management and Transition Readiness in Adolescents with Sickle Cell Disease

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3536-3536
Author(s):  
Cecelia Calhoun ◽  
Regina Abel ◽  
Hai Anh Pham ◽  
Shomari Thompson ◽  
Allison A King
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Psychosocial Development ◽  
Sexual Development ◽  
Independent Living ◽  
Self Management ◽  
Cell Disease ◽  
Adult Care ◽  
Transition Readiness

Abstract Background: The transition from the pediatric setting to adult care is a challenge for many adolescents with chronic disease. Patients with sickle cell disease (SCD) represent a unique cohort as the timing of psychosocial development of adolescence often coincides with worsening end organ damage. Previously, we used the Adolescent Autonomy Checklist (AAC) modified to include SCD specific tasks that patients with SCD need to practice in order to transition to adult healthcare and independent living. This study sought to use the AAC to measure the effects of skill based educational handouts on improving self-management and transition readiness in adolescents with SCD. Methods: This was a single center, retrospective study approved by the Washington University Institutional Review Board. Inclusion criteria were patients with SCD, age 13-21 years, and completion of pre and post assessments. As standard care, patients from a pediatric hematology clinic completed the AAC-SCD. The AAC-SCD assesses skill level in twelve domains (Table). The tool includes 100 items, and users check "can do already" or "needs practice" for each item. After review with the coordinator, participants were given skill-based handouts based on up to five noted deficits. Patients completed the AAC-SCD at the subsequent clinic visit. In addition to baseline and follow up AAC-SCD data, medical and demographic data were collected via chart abstraction. All data were entered into SPSS for statistical analysis, including descriptives, paired sample T-tests, and bivariate Pearson's correlations. Results: A total of 61 patients completed baseline and follow up. Of those participants, 49.2% were female. The mean age was 15.4 (+ 2.2) years. The genotypic distribution was as follows: 67.2% HbSS, 19.7% HbSC, 3.3% HbS-beta-thal+ and 9.8% HbS-beta-thal0. The majority of patients received healthcare coverage via Medicaid (52.5%), private insurance (45.6%) and 1.6% had no insurance coverage. Twenty-five patients (42.0 %) had a history of stroke or silent cerebral infarct and 34 (55.7%) were currently taking or were previously prescribed hydroxyurea. Formal academic support (IEP or 504 Plan) was reported for 20 (32.8%) of patients. At baseline, patients needed the most help with skills in the kitchen, housekeeping, personal care and leisure. Statistically significant improvements (p< 0.05) occurred in skills related to laundry, housekeeping, healthcare, sexual development and living arrangements. Modest sized and statistically significant correlation between the receipt of the educational handouts and decreased number of items marked "needs help" occurred in the areas of money management (r=-0.27, p=0.044), vocational skills (r=-0.27, p=0.046;) and laundry (r=0.32, p=0.015). A post hoc analysis by age groups 13-15 (n= 34),16-18 (n=24) and 19-21 (n=3) showed a decreased amount of items marked "needs help" in the areas of sexual development for both 13-15 year olds (r=0.42, p=0.024) and 16-18 year olds (r=0.93, p=0.001) as well. Conclusion: Transition skills improved over time among adolescents with SCD. While we cannot say for certain if gains in knowledge occur with age as development progresses or if a formal transition program can be credited, providing educational materials on transition related skills within a clinic setting was associated with significant improvements in three of the domains. Our preliminary data offers insight into what skill deficits may be most amenable to educational interventions based on age group. As is the case with medical management, the development of a multimodal intervention is needed to prepare adolescents with SCD to transition to adult care and independent living. Clinic based education is a simple intervention that could be one component of future approaches to transition. Disclosures No relevant conflicts of interest to declare.

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