scholarly journals Young Adults with Sickle Cell Disease (SCD) Have Low Interest in Genetic Counseling and Sickle Cell Trait Testing for Sexual Partners

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 1-2
Author(s):  
Elizabeth Williams ◽  
Elizabeth Linton ◽  
Rosalyn Stewart ◽  
Sophie M. Lanzkron ◽  
Lydia H. Pecker
Keyword(s):  
High School ◽  
Young Adults ◽  
Genetic Counseling ◽  
Young Adult ◽  
Reproductive Health ◽  
Sickle Cell ◽  
Research Funding ◽  
Sickle Cell Trait ◽  
Full Time ◽  
Transition Readiness

Introduction The 2014 NHLBI Sickle Cell Expert Panel recommends that young adults with sickle cell disease (SCD) be supported to develop a reproductive life plan, but little data about implementing this recommendation exists and reproductive health behaviors or knowledge is not assessed in existing SCD transition readiness forms. Young adults with SCD confront typical age-related reproductive challenges and require additional support due to SCD-related complexities. For men and women, there are questions about the effect of SCD and its treatments on fertility and reproductive lifespan and the problem of genetic risk for SCD in offspring. For men, priapism and erectile dysfunction may be problems, while women face contraception choices and complicated pregnancy care. In our young adult clinic, we assess young adults' reproductive history, intentions and knowledge using a clinical survey and standard intake questions. The purpose of this study was to describe young adult responses to our family planning survey. Methods This is a retrospective analysis of patients who established care at the Johns Hopkins Sickle Cell Center for Adults' Young Adult Clinic (YAC), which serves young adults with SCD <31 years. The survey is administered to all new patients, consists of 10 questions and has a Flesch-Kincaid Grade Level score of 6. A systematic chart review captured respondent demographic data to characterize the responses. Results Fifty patients who established care in the YAC over its first 15 months (April 2019-July 2020) completed the survey. They were 66% female with a median age of 23.5 (IQR 21,25). Most (74%) had sickle cell anemia (SCA); 60% had education beyond high school. Most (78%) were either students (34%) or employed full time (44%). Forty-two percent lived with a parent. Most (68%) were sexually active, and 45% reported contraception use. Condoms were commonly used by both sexes (41%); forty percent of women used depot-medroxyprogesterone acetate (DMPA). Half of women (58%) had a gynecologist. One third of women reported dysmenorrhea. Forty-one percent of men reported priapism. Twenty-four percent of respondents had a history of pregnancy or of impregnating a partner and 14% had children. The median age of parents at the birth of the first child was 21 (IQR 16,22). Survey results are in Table 1. The response rate was 98% for eight questions and 50% for two questions. Few (8%) reported desire to have a child in the next year, and 27% wished to discuss contraception. Among sexually active respondents, 29% knew their partner's sickle cell trait status and 35% of them wanted testing. Few respondents wanted to meet with a genetics counselor (12%) or reported knowledge of preimplantation genetic testing (PGT) (11%). Thirty-eight percent of respondents were interested in learning how to identify if a fetus has SCD. Ninety-two percent of respondents indicated they do not desire pregnancy in the next year, and 38% of them were using contraception - 33% used condoms, 22% used DMPA, and 11% had an intrauterine device (IUD). Those interested in contraception were young (68% under 26), female (77%), and, of those women, most did not have a gynecologist (60%). Most women with dysmenorrhea (63%) were not interested in discussing contraception. Of the 14% of respondents with children, 29% knew their partner's trait status; and of those who did not, 20% wanted testing. Among 10 patients interested in genetic counseling or who knew of PGT, half had more than high school education; most (70%) were women with SCA who had never been pregnant. Among 82% who had not heard of PGT, 17% identified interest in more information. Most (70%) of this group was 22-25 years old, 14% wanted a child in the next year, all were either students (43%) or employed full time (57%); most (57%) had education beyond high school. Conclusions Clinic administration of a family planning survey is feasible. Many young adults transition to adult care and are parents or interested in becoming parents. Ninety-two percent of respondents do not desire pregnancy in the near future but 67% of them are not using reliable birth control. Genetic counseling interest, knowledge of PGT, and knowledge of partner sickle trait status is low. Current transition readiness documents for SCD do not adequately address reproductive health. These results suggest a discordance between the reproductive health priorities of young adults with SCD and providers that should be further examined. Disclosures Stewart: HRSA: Research Funding. Lanzkron:GBT: Research Funding; HRSA: Research Funding; Ironwood: Research Funding; NHLBI: Research Funding; PCORI: Research Funding; Pfizer: Research Funding; Pharmacy Times Continuing Education: Honoraria; Prolong: Research Funding. Pecker:Forma Therapeutics: Consultancy.

scholarly journals Red Blood Cell Adhesion Is Increased in the Young Adult Population with Sickle Cell Disease

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 2387-2387
Author(s):  
Erina Quinn ◽  
Charlotte Yuan ◽  
Sargam Kapoor ◽  
Karen Ireland ◽  
Janine Keenan ◽  
...  
Keyword(s):  
Older Adults ◽  
Young Adults ◽  
Young Adult ◽  
Blood Cell ◽  
Older Adult ◽  
Sickle Cell ◽  
Research Funding ◽  
Adult Patients ◽  
Cell Disease ◽  
Blood Samples

Abstract Background: Sickle cell disease (SCD) is characterized by abnormal cellular adhesion to the endothelium, contributing to progressive vasculopathy and vaso-occlusion. The progression of the underlying pathophysiology in SCD with age is not well understood. We evaluated red blood cell (RBC) adhesion at clinical baseline to laminin (LN) in children and adults with HbSS, using the SCD Biochip.1 The SCD Biochip is a microfluidic device that recapitulates physiologic flow and allows quantitation of RBC adhesion to biological surfaces.1 Methods: This prospective cross-sectional study was conducted at The Children's Hospital at Montefiore in the Bronx, NY and University Hospitals Adult Sickle Cell Clinic in Cleveland, OH between 2014 and 2017. Blood samples were obtained from 29 children 8 to 18 years of age (33 samples, 28 HbSS and 1 HbSS HPFH (hereditary persistence of fetal hemoglobin), 13 males and 16 females), from 61 young adult patients 18 to 40 years of age (117 samples, 53 HbSS and 8 HbSS HPFH, 32 males and 29 females), and from 20 older adult patients >40 years of age (38 samples, 16 HbSS and 4 HbSS HPFH, 9 males and 11 females). All blood samples were obtained at clinical baseline. Of the children, young adult, and older adult populations, 45%, 46%, and 40% were on hydroxyurea treatment, respectively. Adhesion experiments were performed using surplus whole blood passed at physiological flow through LN-immobilized microchannels, and quantified after a wash step via microscope based on published protocols.1 Median values were used for multiple samples from a single individual. Results: Adults had higher, more heterogeneous RBC adhesion (440 ± 654, N=81) than did children (90 ± 193, N=29, not shown, p<0.001). Young adults tended to have higher adhesion than older adults (n.s.), as well as children (P<0.001, Figure 1). Young adults also had higher pain levels (relative to children, P=0.002) and higher reticulocyte counts (relative to older adults, Table 1, p=0.011), despite a higher total Hgb (P=0.012). As expected, children had a higher hemoglobin F level than young adults (Table 1, 11.1 ± 6.74 vs 4.85 ± 6.90, p=0.011). Conclusions: Our data demonstrates that adult patients with SCD have higher and more variable adhesion compared to pediatric patients with SCD, and this may be especially true in young adults. Older adults tended to have lower adhesion (perhaps due to compensatory genetic mutations that allowed them to survive before optimal pediatric care), but this was not statistically significant. Recall, as recently as the 1970s half of all Americans with SCD died before the age of 15 years of age. However, modern children with SCD are being treated aggressively with transfusions or hydroxyurea, and their low overall RBC adhesion reflects either these interventions or an innate low RBC adhesion during childhood. Increased adhesion in RBCs from young adults with SCD is congruent with increased mortality in the transition population2, and strongly suggests that modern treatments, as currently prescribed and taken, are insufficient to completely reverse the abnormal red cell physiology seen in young adults. Young adults have an increased RBC adhesion, possibly reflective of the natural history of SCD, and may benefit the most from anti-adhesive therapies and intensive interventions. Lower adhesion in children with SCD may also reflect an overall improved response to therapeutic interventions in children. References: Alapan Y, Kim C, Adhikari A, Gray KE, Gurkan-Cavusoglu E, Little JA, Gurkan. Transl Res. 2016 Jul;173:74-91.e8. doi: 10.1016/j.trsl.2016.03.008. Epub 2016 Mar 19. Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Blood. 2010 Apr 29;115(17):3447-52. Disclosures Little: NHLBI: Research Funding; Doris Duke Charitable Foundations: Research Funding; PCORI: Research Funding; Hemex: Patents & Royalties: Patent, no honoraria.

Characteristics associated with the perceived likelihood to become parents among young adults with sickle cell disease or sickle cell trait in the USA

2021 ◽  
Author(s):  
Dalal S. Aldossary ◽  
Vandy Black ◽  
Miriam O. Ezenwa ◽  
Agatha M. Gallo ◽  
Versie M. Johnson‐Mallard ◽  
...  
Keyword(s):  
Young Adults ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
The Usa

scholarly journals The current state of sickle cell trait: implications for reproductive and genetic counseling

Hematology ◽  
2018 ◽  
Vol 2018 (1) ◽  
pp. 474-481
Author(s):  
Lydia H. Pecker ◽  
Rakhi P. Naik
Keyword(s):  
Chronic Kidney Disease ◽  
Genetic Counseling ◽  
Sickle Cell ◽  
High Frequency ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Clinical Complications ◽  
Current State ◽  
The World ◽  
Reproductive Counseling

Abstract Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism. Increasing knowledge about these clinical outcomes can help inform genetic counseling recommendations. Expanding research and clinical efforts are needed to ensure that the promises of modern and precision medicine can be delivered to the millions of SCT carriers and their children.

scholarly journals Sickle Cell Trait and Risk of Ischemic Stroke in Young Adults

Stroke ◽  
2020 ◽  
Vol 51 (9) ◽  
Author(s):  
Rebecca V. Zhang ◽  
Kathleen A. Ryan ◽  
Haley Lopez ◽  
Marcella A. Wozniak ◽  
Michael S. Phipps ◽  
...  
Keyword(s):  
Young Adults ◽  
Ischemic Stroke ◽  
Sickle Cell ◽  
Early Onset ◽  
Odds Ratio ◽  
Sickle Cell Trait ◽  
Smoking Status ◽  
Population Based ◽  
Logistic Regression Models ◽  
Increased Risk

Background and Purpose: Approximately 8% of Blacks have sickle cell trait (SCT), and there are conflicting reports from recent cohort studies on the association of SCT with ischemic stroke (IS). Most prior studies focused on older populations, with few data available in young adults. Methods: A population-based case-control study of early-onset IS was conducted in the Baltimore-Washington region between 1992 and 2007. From this study, 342 Black IS cases, ages 15 to 49, and 333 controls without IS were used to examine the association between SCT and IS. Each participant’s SCT status was established by genotyping and imputation. For analysis, χ 2 tests and logistic regression models were performed with adjustment for potential confounding variables. Results: Participants with SCT (n=55) did not differ from those without SCT (n=620) in prevalence of hypertension, previous myocardial infarction, diabetes mellitus, and current smoking status. Stroke cases had increased prevalence in these risk factors compared with controls. We did not find an association between SCT and early-onset IS in our overall population (odds ratio=0.9 [95% CI, 0.5–1.7]) or stratified by sex in males (odds ratio=1.26 [95% CI, 0.56–2.80]) and females (odds ratio=0.67 [95% CI, 0.28–1.69]). Conclusions: Our data did not find evidence of increased risk of early-onset stroke with SCT.

Neonatal Screening and Genetic Counseling for Sickle Cell Trait

1986 ◽  
Vol 41 (5) ◽  
pp. 281-282
Author(s):  
LINDSEY K. GROSSMAN ◽  
NEIL A. HOLTZMAN ◽  
EVAN CHARNEY ◽  
ALLEN D. SCHWARTZ
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
Sickle Cell Trait

scholarly journals Perception of young adults with sickle cell disease or sickle cell trait about participation in the CHOICES randomized controlled trial

2015 ◽  
Vol 72 (6) ◽  
pp. 1430-1440 ◽  
Author(s):  
Patricia E. Hershberger ◽  
Agatha M. Gallo ◽  
Robert Molokie ◽  
Alexis A. Thompson ◽  
Marie L. Suarez ◽  
...  
Keyword(s):  
Randomized Controlled Trial ◽  
Young Adults ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Controlled Trial ◽  
Cell Disease ◽  
Randomized Controlled

scholarly journals Risk of Venous Thrombosis in Patients with Sickle Cell Trait after Orthopedic Surgery

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 417-417
Author(s):  
Jahnavi Gollamudi ◽  
Sadeer Al-Kindi ◽  
Petra Martin ◽  
Jane Little ◽  
Lalitha V. Nayak
Keyword(s):  
Logistic Regression ◽  
Sickle Cell ◽  
Orthopedic Surgery ◽  
Research Funding ◽  
Sickle Cell Trait ◽  
Knee Surgery ◽  
Orthopedic Procedures ◽  
Major Orthopedic Surgery ◽  
The Us ◽  
Hip And Knee Surgery

Abstract Introduction Sickle cell trait (SCT) is considered to confer a hypercoagulable state. Historically, venous thromboembolism (VTE, deep vein thrombosis and PE) rates for untreated patients after major orthopedic surgery (hip or knee replacement or hip fracture surgery) have been close to 4.3%, however with the introduction of post-op anticoagulation, the rates have been as low as 1.15%. Although guidelines exist regarding anticoagulation for up to 35 days after major orthopedic surgery, there are no specific recommendations for patients with SCT. The purpose of this retrospective study is to examine the rates of VTE after major orthopedic surgery in a cohort of patients with SCT. We hypothesize that rates of VTE would be higher in patients with SCT and the risk of VTE would persist beyond 35 days. Methods A commercial database (Explorys Inc, Cleveland, OH, USA), an aggregate of electronic health record data from 26 major integrated US healthcare systems representing a sixth of the US population, was queried for data, using Systematized Nomenclature of Medicine (SNOMED) clinical terms or codes. Cases were defined as patients with SCT who underwent major knee or hip surgery. Since a majority of the US population with SCT are African American (AA) patients, controls were defined as AA patients without SCT undergoing major orthopedic surgery. For the primary end point of VTE, only adult patients (≥18 years) were selected. Those with previous history of VTE, thrombophilia, malignant disease, antiphospholipid antibody syndrome and other hemoglobinopathies such as sickle cell disease were excluded. 30 and 90-day rates of VTE were recorded for both groups. Logistic regression models were used to adjust of confounding variables (defined a priori as age > 65 or< 65, smoking, gender and presence or absence of body mass index > 30). Of note, SCT is likely under-estimated due to incomplete diagnosis. Rates or proportions were compared using Chi-squared testusing Medcalc software (2018). Logistic regression analysis was done using Statistical Package for Social Sciences (SPSS, version 21, IBM Corp, Armonk, NY). P< 0.05 was considered statistically significant. Results A total of 1360 major orthopedic surgeries in patients with SCT and 74040 surgeries in non-SCT patients were identified. 30 and 90-day VTE for SCT patients undergoing major orthopedic surgery was 9.7% each. 30 and 90 day VTE for non-SCT patients undergoing major hip and knee surgery were 5.9 % and 6.4 % respectively. The difference in 30-day and 90-day VTE rates between the SCT and non-SCT group was statistically significant (30 day VTE difference 3.1%, 95% CI 1.6650-4.7569, p < 0.001; 90 day VTE difference=3.6%; 95% CI 2.1658-5.2562, p= <0.001). The rates of anticoagulant dispensation (oral Xa inhibitors, enoxaparin or warfarin) after surgery were 56% and 46% in SCT and non-SCT group respectively (difference = 10%, 95% CI 7.32-12.64, p <0.001). Despite the higher proportion of patients prescribed for anticoagulants in the SCT population, there was still a higher 30 and 90-day VTE rate in that group. Compliance to anticoagulation and mortality from VTE could not be assessed in this study. Logistic regression of risk factors associated with risk of VTE revealed age over 65 years of age, female gender, active smoking status, obesity (BMI >30), and presence of sickle cell trait were all significantly associated with increased risk of both 30 and 90 day VTE post major orthopedic surgery. Please see Table 1 and 2 for further details. Conclusion Our study represents real life data outside of a clinical trial. We found that patients with SCT who underwent major hip and knee surgery had an increased 30 and 90-day VTE rates compared to non-SCT patients undergoing the same procedures. Overall, this cohort of AA patients had VTE rates higher than that were described in literature. Of note, AA patients overall are at a higher risk of VTE than are their Caucasian counterparts. The results from the study seem to suggest a role for extended prophylaxis in people with SCT who are undergoing orthopedic procedures, and warrants further study. Disclosures Little: Doris Duke Charitable Foundations: Research Funding; NHLBI: Research Funding; PCORI: Research Funding; Hemex: Patents & Royalties: Patent, no honoraria.

scholarly journals Risk of Pregnancy-Related Venous Thromboembolism in Black Women with Sickle Cell Trait

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 2044-2044
Author(s):  
Tijesunimi Oni ◽  
Manuela Plazas Montana ◽  
Mamie Myo Thant ◽  
Sarah Baghdadi ◽  
Jaanvi Mahesh ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Black Women ◽  
Sickle Cell ◽  
Research Funding ◽  
Sickle Cell Trait ◽  
Post Partum ◽  
Search Term ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Privately Held

Abstract Background: Select inherited thrombophilias have been shown to potentiate the risk of venous thromboembolism (VTE) during pregnancy and the post-partum period. Sickle cell trait (SCT) is associated with an increased risk of VTE in the general Black population; however, prior studies investigating the risk of pregnancy-related VTE among women with SCT have been limited by an overall low number of VTE events. We, therefore, designed a retrospective cohort enriched for pregnancy-related VTE events among Black women at Johns Hopkins Hospital to address this question. Methods: We generated a cohort enriched for pregnancy-related VTE at Johns Hopkins or affiliate hospitals from 2009-2019 by using EPIC and an internal ObGyn database to identify Black women ≥18 years with at least 1 pregnancy encounter in addition to at least 1 VTE-related ICD-10 diagnosis code or comprehensive VTE-related search term. All charts were manually reviewed to confirm hemoglobinopathy status and to verify the presence or absence of a VTE event during pregnancy or 6 weeks post-partum. Individuals with sickle cell disease, history of VTE prior to index pregnancy, catheter-related or superficial vein thrombosis only, or unknown pregnancy VTE outcome were excluded. Results: A total of 418 women were included for analysis. The mean age at pregnancy was 30 years (range 18-48), and the prevalence of SCT was 6.7%, which is similar to the prevalence in the general Black American population. Thirty-seven women (8.9%) were confirmed to have a pregnancy-related VTE event. Among those with VTE, SCT carriers demonstrated a higher proportion of pulmonary embolism (PE), unusual vein thrombosis, and antepartum VTE events compared to women with HbAA (Table 1), though numbers were small. After adjusting for age, the risk of VTE was 2.9-fold (95% CI 1.1-7.9) higher among pregnant Black women with SCT compared to those without. Conclusions: In this enriched cohort, SCT was associated with an increased risk of pregnancy-related VTE among Black women. The pattern of pregnancy-related VTE was different in individuals with SCT compared to those with HbAA, with SCT demonstrating a higher proportion of PE and antepartum events. The higher risk of PE compared to isolated DVT is similar to the pattern observed in prior population-based studies of SCT. Because the prevalence of SCT is high and the overall risk of VTE in pregnancy is low, future studies are needed to determine whether routine thromboprophylaxis is warranted for select high-risk pregnant women with SCT. Figure 1 Figure 1. Disclosures Lanzkron: Novartis: Research Funding; CSL Behring: Research Funding; Shire: Research Funding; Novo Nordisk: Consultancy; Imara: Research Funding; Bluebird Bio: Consultancy; Pfizer: Current holder of individual stocks in a privately-held company; Teva: Current holder of individual stocks in a privately-held company; GBT: Research Funding. Naik: Rigel: Research Funding.

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