scholarly journals Diagnosis patterns of sickle cell disease in Ghana: a secondary analysis using cohort data

2021 ◽  
Author(s):  
Alexandra M. Sims ◽  
Kwaku Osei Bonsu ◽  
Rebekah Urbonya ◽  
Fatima Farooq ◽  
Fitz Tavernier ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Screening Program ◽  
Severe Disease ◽  
Secondary Analysis ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Screening Programs ◽  
Pain Crisis ◽  
First Pain

Abstract Background: Despite having the highest prevalence of sickle cell disease (SCD), Sub-Saharan Africa lacks a robust screening program. We sought to capture the diagnosis patterns of SCD, particularly age and mechanism at SCD and age of first pain crisis, in Accra, Ghana. Methods We administered a survey to parents of offspring with SCD between 2009–2013 in Accra as a part of a larger cohort study and analyzed a subset of the data to determine diagnosis patterns. Univariate analyses were performed on diagnostic patterns; bivariate analyses were conducted to determine if patterns differ by offspring’s age, or their disease severity. Pearson’s chi-squared were calculated. Results Data was collected on 354 unique participants from parents. 44% were diagnosed with SCD by age four; 46% had experienced a pain crisis by the same age. 66% were diagnosed during pain crisis, either in acute (49%) or primary care (17%) settings. Younger (< 18 years) offspring were diagnosed with SCD at an earlier age (74% by four years old); in the adult ( > = 18 years) group, 30% were diagnosed by four years (p < 0.001). Few were diagnosed via newborn screen. Half with severe disease were diagnosed by age four, compared to 31% with mild disease (p = 0.009). Conclusions These findings reflect a reliance on diagnosis in acute settings, and a relative underutilization of systematic screening programs. By understanding current patterns, opportunities remain to more effectively detect and treat SCD in this high prevalence population.

scholarly journals Diagnosis patterns of sickle cell disease in Ghana: a secondary analysis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Alexandra M. Sims ◽  
Kwaku Osei Bonsu ◽  
Rebekah Urbonya ◽  
Fatimah Farooq ◽  
Fitz Tavernier ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Screening Program ◽  
Medical Center ◽  
Academic Medical Center ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Mortality And Morbidity ◽  
Pain Crisis ◽  
First Pain

Abstract Background Despite having the highest prevalence of sickle cell disease (SCD) in the world, no country in Sub-Saharan Africa has a universal screening program for the disease. We sought to capture the diagnosis patterns of SCD (age at SCD diagnosis, method of SCD diagnosis, and age of first pain crisis) in Accra, Ghana. Methods We administered an in-person, voluntary survey to parents of offspring with SCD between 2009 and 2013 in Accra as a part of a larger study and conducted a secondary data analysis to determine diagnosis patterns. This was conducted at a single site: a large academic medical center in the region. Univariate analyses were performed on diagnosis patterns; bivariate analyses were conducted to determine whether patterns differed by participant’s age (children: those < 18 years old whose parents completed a survey about them, compared to adults: those > = 18 years old whose parents completed a survey about them), or their disease severity based on SCD genotype. Pearson’s chi-squared were calculated. Results Data was collected on 354 unique participants from parents. Few were diagnosed via SCD testing in the newborn period. Only 44% were diagnosed with SCD by age four; 46% had experienced a pain crisis by the same age. Most (66%) were diagnosed during pain crisis, either in acute (49%) or primary care (17%) settings. Children were diagnosed with SCD at an earlier age (74% by four years old); among the adults, parents reflected that 30% were diagnosed by four years old (p < 0.001). Half with severe forms of SCD were diagnosed by age four, compared to 31% with mild forms of the disease (p = 0.009). Conclusions The lack of a robust newborn screening program for SCD in Accra, Ghana, leaves children at risk for disease complications and death. People in our sample were diagnosed with SCD in the acute care setting, and in their toddler or school-age years or thereafter, meaning they are likely being excluded from important preventive care. Understanding current SCD diagnosis patterns in the region can inform efforts to improve the timeliness of SCD diagnosis, and improve the mortality and morbidity caused by the disease in this high prevalence population.

Age of first pain crisis and associated complications in the CASiRe international sickle cell disease cohort

2021 ◽  
Vol 88 ◽  
pp. 102531
Author(s):  
Immacolata Tartaglione ◽  
Crawford Strunk ◽  
Charles Antwi-Boasiako ◽  
Biree Andemariam ◽  
Raffaella Colombatti ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Pain Crisis ◽  
First Pain

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 Comparison between Adult Patients with Sickle Cell Disease of Sub-Saharan African Origin Born in Metropolitan France and in Sub-Saharan Africa

2019 ◽  
Vol 8 (12) ◽  
pp. 2173 ◽  
Author(s):  
Vasco Honsel ◽  
Djamal Khimoud ◽  
Brigitte Ranque ◽  
Lucile Offredo ◽  
Laure Joseph ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Severe Disease ◽  
Median Number ◽  
Adult Patients ◽  
Sub Saharan Africa ◽  
First Episode ◽  
Cell Disease ◽  
Sub Saharan ◽  
And Migration

Sickle cell disease (SCD) prevalence has increased rapidly in Europe as a result of an increase in the life expectancy of these patients and the arrival of SCD migrants from Africa. The aim of our study was to compare the phenotypes of adult patients born in Sub-Saharan Africa (SSA) who migrated to France with those of patients with the same origin who were born in France. This single-center observational study compared the demographic, clinical and biological characteristics of SCD adult patients of SSA origin who were born in France or SSA. Data were collected from computerized medical charts. Groups were compared using multivariate logistic regression with adjustment for age, gender and type of SCD. Of the 323 SCD patients followed in our center, 235 were enrolled, including 111 patients born in France and 124 patients born in SSA. SCD genotypes were balanced between groups. Patients born in Africa were older (median age 32.1 (24.4–39) vs. 25.6 (22.1–30.5) years, p < 0.001) and more often women (n = 75 (60.5%) vs. 48 (43.2%), p = 0.008). The median age at arrival in France was 18 years (13–23). The median height was lower among patients born in SSA (169 (163–175) vs. 174.5 cm (168–179), p < 0.001). Over their lifetimes, patients born in France had more acute chest syndromes (median number 2 (1–4) vs. 1 (0–3), p = 0.002), with the first episode occurring earlier (19 (11.6–22.3) vs. 24 (18.4–29.5) years, p < 0.007), and were admitted to intensive care units more often (53.3% vs. 34.9%, p = 0.006). This difference was more pronounced in the SS/Sβ0 population. Conversely, patients born in SSA had more skin ulcers (19.4% vs. 6.3%, p = 0.03). No significant differences were found in social and occupational insertion or other complications between the two groups. Patients born in SSA had a less severe disease phenotype regardless of their age than those born in France. This difference could be related to a survival bias occurring in Africa during childhood and migration to Europe that selected the least severe phenotypes.

scholarly journals Implementation of a Sickle Cell Disease Screening Initiative in Uganda with HemoTypeSCTM

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. LBA-3-LBA-3
Author(s):  
Ruth Nankanja ◽  
Charles Kiyaga ◽  
Mark Geisberg ◽  
Erik Serrao ◽  
Stephen Balyegyusa
Keyword(s):  
Data Analysis ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Predictive Value ◽  
Sickle Cell Trait ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Field Validation ◽  
Screening Programs ◽  
Sub Saharan

Abstract Sickle Cell Disease (SCD) is a widely prevalent hemoglobinopathy in sub-Saharan Africa that is frequently deadly in early life, killing 70-80% of afflicted children before their fifth birthday. SCD accounts for ~20% of annual childhood deaths in Uganda - one of the first African countries surveyed for SCD prevalence. This health danger is currently addressable: prophylactic intervention programs including hydroxyurea, antibiotics, and immunizations have drastically reduced SCD mortality in developed areas and could be implemented in sub-Saharan Africa in a cost-effective manner. However, the cornerstone of such programs, newborn diagnostic screening, has not been widely implemented in Uganda, or elsewhere in Africa. This dilemma springs from the cost and logistical problems with accepted diagnostic methodologies, which require laboratory equipment, highly-trained operating personnel, uninterrupted electrical supply, and sample transport away from the point-of-care (POC). Clearly, a low-cost, low-complexity, POC diagnostic test for SCD could help diminish this public health crisis. HemoTypeSCTM is an inexpensive competitive lateral-flow immunoassay that uses monoclonal antibodies to detect hemoglobins (Hbs) A, S, and C in a 1.5-μL droplet of whole blood. In this study we conducted a field validation of HemoTypeSC accuracy in children of southeastern Uganda, aimed at providing evidence for the applicability of the test in widespread newborn screening programs in the region. This study was designed as a blinded, prospective diagnostic accuracy trial of HemoTypeSC as an investigational test compared to Hb electrophoresis as a reference method. Jinja Regional Referral Hospital was selected as a low-resource study center due to its relatively high daily patient volume, as well as its suitability as a prototype center for organized newborn SCD screening within Uganda. Exactly 1,000 children five years old and younger were prospectively recruited from the hospital wards and outpatient clinics. HemoTypeSC was compared to Hb electrophoresis for detection of the Hb phenotypes HbAA (normal), HbAS (sickle cell trait), and HbSS (SCD). Initial data analysis indicated that HemoTypeSC correctly identified 998 out of 1,000 phenotypes, for an overall accuracy of 99.8%. This included 720/720 (100%) specimens correctly identified as HbAA, 182/182 (100%) correctly identified as HbAS, and 96/98 (98%) correctly identified as HbSS. The two discordant samples were both identified as HbSS by electrophoresis and HbAS by HemoTypeSC. To resolve these discrepancies, the patients with the discordant HbSS/HbAS results were recalled for repeat testing. During the ensuing phone contact for scheduling, it was discovered that both individuals were in fact previously diagnosed with SCD, and both had been recently transfused. The previous diagnostic result reports for these participants were subsequently viewed and confirmed as HbSS. Because HbA was indeed present in the blood of these two patients at the time of sampling, the HbAS result was determined to be true. A secondary data analysis was therefore conducted, in which these two specimens were included as true positives for HbSS and true negatives for HbAS. It was ultimately determined that HemoTypeSC correctly identified 1,000 out of 1,000 phenotypes across all patients screened, including 96/96 HbSS specimens, for an overall sensitivity, specificity, positive predictive value, and negative predictive value of 100%. These results indicate that HemoTypeSC performs at least as accurately as the gold-standard method of Hb electrophoresis in detecting SCD and sickle cell trait at the POC in a resource-limited setting. This to our knowledge represents the first ever report of a rapid test for SCD displaying 100% sensitivity and specificity in a field validation study. In summary, HemoTypeSC represents a promising tool that can presently enable newborn and general population screening. Widespread combination of HemoTypeSC newborn and population screening programs with appropriate treatment, prophylaxis, and health counseling systems in countries most affected by the disease could save the lives of millions of children over the coming decades. A separate abstract regarding a HemoTypeSC field validation trial in Nigeria has also been submitted as a late-breaking abstract. We would be open to sharing a presentation slot with this group. Disclosures No relevant conflicts of interest to declare.

Impact of Intravenous Opioid Shortage on Managing Pain Crisis in Sickle Cell Disease

2021 ◽  
pp. 106002802110245
Author(s):  
Jin Han ◽  
Santosh L. Saraf ◽  
Michel Gowhari ◽  
Faiz Ahmed Hussain ◽  
Shivi Jain ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Pain Crisis

Living with sickle cell disease: voices from sub-Saharan Africa

2021 ◽  
Author(s):  
Arafa Said Salim ◽  
Emmy Mwita ◽  
Joseph Sarfo Antwi ◽  
Olamide Agunkejoye ◽  
Paul Mdliva
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Sub Saharan

Abstract 65: Anemia-related Heart Failure in Sub-saharan African Sickle Cell Disease Patients

2017 ◽  
Vol 121 (suppl_1) ◽  
Author(s):  
Adebayo C Atanda ◽  
Yahya Aliyu ◽  
Oluwafunmilayo Atanda ◽  
Aliyu Babadoko ◽  
Aisha Suleiman ◽  
...  
Keyword(s):  
Heart Failure ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Systolic Pressure ◽  
Left Ventricular ◽  
Hemoglobin Level ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Jet Velocity ◽  
Sub Saharan

Introduction: Anemia has been implicated in heart failure. Existing literatures, involving predominantly African-Americans, suggests that Sickle Cell Disease (SCD) maybe linked to various cardiovascular complications including pulmonary hypertension and left venticular dysfunction. Peculiarly, our study involves exclusively Sub-Saharan population. Method: We conducted a cross sectional observational study of 208 hydroxyurea-naive consecutive SCD patients aged 10-52 years at steady state and 94 healthy non-matched controls who were studied in an out patient clinic in Sub-Saharan Africa. SCD patients were required to have electrophoretic or liquid chromatography documentation of major sickling phenotypes. Control group was required to have non-sickling phenotypes. Cardiac measurements were performed with TransThoracic Echo according to American Society of Echocardiography guidelines. Hemoglobin level was also obtained. Results: Hemoglobin level in SCD group (8.5+/- 1.5) was significant (P<0.001) compared to control (13.8+/- 1.7). Although SCD group had significantly higher values of left ventricular (LV) size, there was no qualitative evidence of LV dysfunction. SCD group had higher values of Ejection Fraction but not statistically significant. There was no evidence of LV wall stiffening to impair proper filling in SCD group, with the ratio of early to late ventricular filling velocities, E/A ratio elevated (1.7+/-0.4 compared to 1.6+/- 0.4; P=0.010). Right ventricular systolic pressure was determined using the formula of 4x Tricuspid Reugurgitant jet (TRV) square as an indirect measurement of Pulmonary arterial systolic pressure. SCD patients had significantly higher mean±SD values for tricuspid regurgitant jet velocity than did the controls (2.1±0.6 vs. 1.8±0.5; p= 0.001). Within the SCD group, there was no clear pattern of worsening diastolic function with increased TRV. Furthermore, E/A had a significant positive relationship with jet velocity in bivariate analysis (R=0.20; P=0.013). Conclusions: We were unable to demonstrate existence of anemia-associated left ventricular dysfunction in Sub-Saharan African with SCD. Further studies is required to highlight the reason behind this finding.

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