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.

Timing of the Initiation of Hydroxyurea and Hematologic Outcomes in Patients with Sickle Cell Disease (SCD)

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 1004-1004
Author(s):  
Shaina Willen ◽  
Nirmish Shah ◽  
Courtney Thornburg ◽  
Jennifer Rothman
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Significant Relationship ◽  
Medical Center ◽  
Fetal Hemoglobin ◽  
Clinical Severity ◽  
Cell Disease ◽  
Younger Age ◽  
The Mean

Abstract Abstract 1004 Hydroxyurea (HU) is approved for use in adults with Sickle Cell Disease (SCD) and increases the production of fetal hemoglobin (HbF). Increased HbF is associated with decreased clinical severity in adults and children with SCD, such as decreased numbers of vaso-occlusive events, transfusions, and hospitalizations. Higher HbF at initiation of HU is predictive of HbF response, but association between age of hydroxyurea initiation and HbF response has not been investigated. We hypothesize that starting hydroxyurea at an early age may improve hematological and clinical response. In order to determine if younger age at hydroxyurea initiation affects the percentage of HbF achieved with hydroxyurea, we conducted a retrospective cohort study. We identified subjects enrolled in the Duke University Medical Center Comprehensive Sickle Cell program who initiated hydroxyurea when they were less than 17.99 years of age and were prescribed hydroxyurea for at least six months. The following data were abstracted from the medical record between December 1996 and April 2011: age, hemoglobin, percentage HbF, and mean corpuscular volume (MCV) at start of HU and at maximum tolerated dose (MTD) of HU therapy. The correlation coefficient and p-values for various parameters were calculated. Seventy-three patients (41 males and 32 females) were included in the analysis. The mean age at hydroxyurea initiation was 5.5 years (1.2–14.1). The mean hydroxyurea dose at MTD was 28.6 ± 3.2 mg/kg/day. At initiation, the mean hemoglobin was 8.2 ± 1.2 g/dL, the mean MCV was 83±7.4 fl and mean HbF was 10 ± 5.7%. At MTD, the mean hemoglobin was 9.4 ± 1.1 g/dL, the mean MCV was 99 ± 11.1 fl, and the mean HbF was 21.7 ± 9.4%. As expected, at MTD, an elevated MCV was correlated with elevated fetal hemoglobin (r2= 0.19, p= 0.0001) [Table 1]. There was a statistically significant relationship between the age at HU initiation and the HbF at MTD (r2= 0.08, p= 0.015) [Figure 1] as well as the age at HU initiation and the hemoglobin at MTD (r2= 0.19, p= 0.016). The relationship between the age at starting HU and the overall change in HbF (DHbF) was not statistically significant (r2= 0.01, p= 0.41). There was not a statistically significant relationship between age at HU initiation and the MTD of HU (r2= 0.003, p= 0.61). The 6 patients started on HU at age less than 2 years (mean 1.5 ± 0.3 years) maintained a mean elevated HbF of 19.1 ± 5% at last documented follow-up with follow-up ranging from 1.4–13 year of uninterrupted hydroxyurea use. Starting hydroxyurea therapy at a younger age appears to improve HbF response as measured at MTD, although there is variability in the level of fetal hemoglobin attained. There is not an association seen with the DHbF or dose at MTD and age at hydroxyurea initiation. In summary, starting hydroxyurea at a younger age, when HbF is >20%, leads to persistence of HbF production and overall improvement in hematological efficacy. This was not simply the result of achieving MTD at a younger age before physiologic decline of HbF. Disclosures: Off Label Use: Hydroxyurea for complications of sickle cell disease in pediatrics. Shah:Eisai: Research Funding; Adventrx: Consultancy.

scholarly journals Universal Screening Program in Pregnant Women and Newborns at-Risk for Sickle Cell Disease: First Report from Northern Italy

Hemoglobin ◽  
2017 ◽  
Vol 41 (4-6) ◽  
pp. 230-233 ◽  
Author(s):  
Mariachiara Lodi ◽  
Elena Bigi ◽  
Giovanni Palazzi ◽  
Lara Vecchi ◽  
Riccardo Morandi ◽  
...  
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Pregnant Women ◽  
Sickle Cell ◽  
Universal Screening ◽  
Screening Program ◽  
Northern Italy ◽  
Cell Disease ◽  
First Report

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.

PUBLIC PRESENTATIONS

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 910-910
Author(s):  
Deborah D. Henry
Keyword(s):  
New York ◽  
New York City ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
York City ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease

I am the parent of an 11½-year-old daughter with sickle cell disease. I am aware of the need for a comprehensive newborn screening program for sickle cell disease and other hemoglobinopathies. However, all such programs must be instituted with a follow-up component, and parents should be made aware that such screenings are being done. My daughter was born during the summer of 1975 in New York City. New York City began screening for sickle cell and similar hemoglobinopathies in May 1975, but had no comprehensive follow-up program until 1978. My daughter was not screened nor was I aware of the screening program. I learned of my daughter's condition during a routine well-child clinic visit when she was 6 months of age. I am afraid to think of her outcome had I not been taking her for preventive health care, because before the age of 1 year she experienced one of the most life-threatening crises of a child with sickle cell disease—splenic sequestration. I am pleased to announce that in New York City today, parents are notified in a timely manner of their infant's newborn screening results with information regarding follow-up and counseling services. Two of my immediate family members gave birth to infants with sickle cell trait. They were informed of their infants' results within 2 weeks after their babies' births, and were given concrete information and recommendations for follow-up genetic services. I know a comprehensive newborn screening program will prevent mortality in infants found to have sickle cell disease and related hemoglobinopathies.

Newborn Screening for Sickle Cell Disease

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 629-630
Author(s):  
THOMAS GROSS
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Critical Review ◽  
Recent Article ◽  
Screening Program ◽  
Cell Disease ◽  
Cumulative Mortality

Vichinsky and colleagues in their recent article concerning the effect on mortality of newborn screening for sickle cell disease claim that "the data indicate that newborn screening, when coupled with extensive follow-up and education, will significantly decrease patient mortality." Critical review of their data, however, does not support this conclusion. Of the 89 patients with sickle cell disease identified in their screening program, one individual died of septicemia for a cumulative mortality of 1.1% (not 1.8% that was quoted).

Transcranial Doppler Screening Program Is Effective in Preventing Stroke in Children with Sickle Cell Disease

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 714-714 ◽  
Author(s):  
Henrietta Enninful-Eghan ◽  
Renee H Moore ◽  
Rebecca Ichord ◽  
Janet L Kwiatkowski
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Transcranial Doppler ◽  
Screening Program ◽  
Treatment Protocol ◽  
Cell Disease ◽  
Transfusion Therapy ◽  
Neurological Event ◽  
The Impact

Abstract In the Cooperative Study of Sickle Cell Disease the incidence of stroke in SCD-SS was estimated to be 0.61 per 100 patient-years. Since that study, the use of transcranial Doppler ultrasonography (TCD) has become routine to detect children at high risk of stroke and regular transfusions have been shown to reduce the risk of stroke by over 95% in those with abnormal TCD studies. The impact of TCD screening on the overall incidence of stroke in children with SCD has not been studied extensively. We sought to determine the impact of our TCD screening and treatment protocol on the incidence of first stroke in a cohort of children followed at our Sickle Cell Center. Routine TCD screening was instituted at our Center in Oct, 1998. Our protocol includes annual TCD studies for children with normal TCD results (<170 cm/s), repeat study every 3 to 6 months in those with conditional results (170–199 cm/s), and within 1–4 weeks for children with abnormal results (≥200 cm/s). Chronic transfusion therapy is recommended for patients with confirmed abnormal TCD velocities. In the current study, the rate of stroke in the 8-y period prior to TCD screening (Sept 1, 1990-Aug 31, 1998 – Pre-TCD) was compared to the rate in the 8-y period after TCD screening began (Sept 1, 1998 – Aug 31, 2006 – Post TCD). Eligible subjects were patients less than 22 years old with a diagnosis of SCD-SS or SCD-Sβ0-thalassemia. Subjects with a history of stroke prior to Sept, 1990 or before enrollment in our Center were excluded. Cases of stroke or other neurological event were identified from our clinical database. The study neurologist reviewed all clinical data and radiological studies for each neurological event and classified events into one of the following categories: overt stroke - ischemic (neurological deficit conforming to a vascular territory with neuroimaging studies corresponding to the clinical deficit) or hemorrhagic not overt stroke (other neurological event), and indeterminate. Incidence rates for stroke were calculated and compared between the Pre and Post TCD groups using a test of binomial proportions. Subjects were followed until they had a stroke or neurological event, turned 22 years old, the end of the 8-y period or until the last clinic date. The pre-TCD group included 475 children with a total follow-up time of 3,137 person-years. Twenty-one patients had overt stroke, 3 had other neurologic events (1-seizure, 1-transient ischemic attack/syncope, 1-behavioral changes) and 2 were indeterminate. The post-TCD group included 530 children with 3,578 person-years follow-up. Two patients had overt stroke, 6 had other neurological events [1-diffuse encephalopathy with viral syndrome, 1-febrile seizure, 3-dizzy and/or syncope (one with hgb=2.7), 1-headache with <30 min arm/leg weakness – all with acute punctate infarcts whose location did not correspond to clinical presentation], and 1 was indeterminate. The incidence of overt stroke in the pre-TCD period was 0.67 per 100 person-years, compared with an incidence of 0.06 per 100 person-years in the post-TCD period (p < 0.001). The first stroke case in the post-TCD period was a 3.4 year-old with ACA velocities > 200 cm/s but no abnormal velocities in the ICA/MCA and the second occurred in a 1.2 year-old, prior to the age that screening is started. Thus, our TCD screening and treatment program has been successful in reducing the rate of first overt stroke, although small vessel ischemia, particularly in the setting of an additional insult such as severe anemia, may not be prevented. Further modifications such as the addition of ACA velocity to treatment criteria, earlier screening, or the addition of other neuroimaging studies might further reduce the risk of first stroke.

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 Newborn Screening for Sickle Cell Disease: Indian Experience

2018 ◽  
Vol 4 (4) ◽  
pp. 31 ◽  
Author(s):  
Roshan Colah ◽  
Pallavi Mehta ◽  
Malay Mukherjee
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

scholarly journals Building a sickle cell disease screening program in the Republic of Uganda: the Uganda Sickle Surveillance Study (US3) with 3 years of follow-up screening results

2018 ◽  
Vol 2 (Supplement_1) ◽  
pp. 4-7 ◽  
Author(s):  
Charles Kiyaga ◽  
Arielle G. Hernandez ◽  
Isaac Ssewanyana ◽  
Kathryn E. McElhinney ◽  
Grace Ndeezi ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Screening Program ◽  
Disease Screening ◽  
Surveillance Study ◽  
Cell Disease ◽  
The Republic

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.

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