scholarly journals Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test

2007 ◽  
Vol 14 (3) ◽  
pp. 113-116 ◽  
Author(s):  
Léon Mutesa ◽  
François Boemer ◽  
Louis Ngendahayo ◽  
Stephen Rulisa ◽  
Emmanuel K Rusingiza ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Immunosorbent Assay ◽  
Neonatal Screening ◽  
Democratic Republic Of Congo ◽  
Central Africa ◽  
High Specificity ◽  
Elisa Test ◽  
Enzyme Linked Immunosorbent Assay ◽  
Cell Disease

Objectives: To evaluate the feasibility of systematic neonatal screening for sickle cell disease in the region of Great Lakes in Central Africa using a new approach with limited costs. Methods: Between July 2004 and July 2006, 1825 newborn dried blood samples were collected onto filter papers in four maternity units from Burundi, Rwanda and the East of the Democratic Republic of Congo. We tested for the presence of haemoglobin C and S in the eluted blood by an enzyme-linked immunosorbent assay (ELISA) test using a monoclonal antibody. All ELISA-positive samples (multiple of the median (MoM)≥ 1.5) were confirmed by a simple molecular test. The statistica software version 7.1 was used to create graphics and to fix the MoM cut-off, and the χ2 of Pearson was used to compare the genotype incidences between countries. Results: Of the 1825 samples screened, 97 (5.32%) were positive. Of these, 60 (3.28%) samples were heterozygous for Hb S, and four (0.22%) for Hb C; two (0.11%) newborns were Hb SS homozygotes. Conclusions: The lower cost and the high specificity of ELISA test are appropriate for developing countries, and such systematic screening for sickle cell anaemia is therefore feasible.

scholarly journals Melioidosis and sickle cell disease: Description of a rare association

2020 ◽  
Vol 3 (1) ◽  
pp. 57-62
Author(s):  
Mick Ya-Pongombo Shongo ◽  
◽  
Mimi Mujing Yav ◽  
Olivier Mukuku ◽  
Gaston Kankolongo ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Democratic Republic ◽  
Democratic Republic Of Congo ◽  
Central Africa ◽  
Cell Disease ◽  
Clinical Form ◽  
Rare Association ◽  
Wide Range ◽  
Clinical Cases

Melioidosis and its germ are increasingly reported on the African continent and particularly in Central Africa, probably due to the increased awareness of clinicians and microbiologists and the growing recognition of the organism. It is called "Great Mimicker" because it produces a wide range of clinical characteristics such as would be found in patients living with sickle cell disease (SCD) in particular. However, to date, no publication presents this association between melioidosis and SCD. The authors describe here 3 clinical cases presenting this very rare association between melioidosis and SCD. These are 3 children with SCD (homozygous SS) residing in Lubumbashi in Haut-Katanga province in the Democratic Republic of Congo. One patient presented with sepsis as a clinical form of the disease. All 3 had presented a pulmonary form. Only one patient was treated specifically after the diagnosis of melioidosis; for the other two, this diagnosis was confirmed after their death. Thus the death rate is 66.67%. This article describes, through these 3 clinical cases, a very rare first association between melioidosis and SCD. This association requires research to establish whether, like Thalassemia, SCD can be considered a risk factor for melioidosis. A screening of cases of melioidosis in the general population should allow us to focus on this.

scholarly journals Neonatal screening improves sickle cell disease clinical outcome in Belgium

2017 ◽  
Vol 25 (2) ◽  
pp. 57-63 ◽  
Author(s):  
Phu-Quoc Lê ◽  
Alina Ferster ◽  
Laurence Dedeken ◽  
Christiane Vermylen ◽  
Anna Vanderfaeillie ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
Propensity Score Analysis ◽  
Central Africa ◽  
Severe Infection ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Kaplan Meier ◽  
Score Analysis

Objectives To compare the outcomes of sickle cell disease patients diagnosed through neonatal screening with those who were not. Methods In an observational multicenter study in Belgium, 167 screened and 93 unscreened sickle cell disease patients were analyzed for a total of 1116 and 958 patient-years of follow-up, respectively. Both groups were compared with propensity score analysis, with patients matched on three covariates (gender, genotype, and central Africa origin). Bonferroni correction was applied for all comparisons. Results Kaplan–Meier estimates of survival without bacteremia were significantly higher in the screened group than the unscreened group (94.47%; [95% CI, 88.64–97.36%] versus 83.78% [95% CI, 72.27–90.42%]), p = 0.032. Non-significant differences between both groups were reported for survival without acute chest syndrome, acute anemia, cerebral complication, severe infection, and vaso-occlusive crisis. Significantly lower hospitalization rate and days per 100 patient-years were observed in the screened compared with the unscreened group (0.27 vs. 0.63 and 1.25 vs. 2.82, p = 0.0006 and <0.0001). Conclusion These data confirm the benefit of a neonatal screening programme in reducing bacteremia and hospitalization.

scholarly journals Vitamin D and Nonskeletal Complications among Egyptian Sickle Cell Disease Patients

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Mona Hamdy ◽  
Niveen Salama ◽  
Ghada Maher ◽  
Amira Elrefaee
Keyword(s):  
Vitamin D ◽  
Sickle Cell Disease ◽  
Vitamin D Deficiency ◽  
Sickle Cell ◽  
Standard Of Care ◽  
Enzyme Linked Immunosorbent Assay ◽  
Cell Disease ◽  
P Values ◽  
Indirect Bilirubin ◽  
Deficient Group

Lower levels of vitamin D have been documented in many patients with sickle cell disease (SCD), but data are still inconclusive regarding the association between vitamin D deficiency (VDD) and the occurrence or the severity of various SCD complications. Our study aimed to detect the prevalence of vitamin D deficiency among Egyptian patients with SCD and to associate it with the clinical course of the disease. We measured the level of 25-hydroxy vitamin D in 140 children (age from 4.3 to 15.5years), 80 patients with SCD and 60 controls using enzyme-linked immunosorbent assay. Vitamin D was deficient in 60% of SCD compared to 26.7% of controls. Severe VDD was significantly higher in SCD patients than controls. Patients were divided into 2 groups; Normal group (32 patients) and Deficient group (48 patients). There were statistically significant differences between the 2 groups regarding their age, height percentile, the presence of clinical jaundice, and osseous changes (P values 0.043, 0.024, 0.001, and 0.015, respectively). Hemoglobin and hematocrit values were significantly lower in Deficient group (P values 0.022 and 0.004, respectively) while the levels of aspartate aminotransferase, lactate dehydrogenase, and total and indirect bilirubin were significantly higher in the same group (P values 0.006, 0.001, 0.038, and 0.016, respectively). The frequency of blood transfusions, hospitalization, and vasoocclusive crisis previous year as well as the history of bone fracture and recurrent infections proved to be significantly higher in Deficient group. These findings suggest that VDD may play a role in the pathogenesis of hemolysis and other complication of SCD. Vitamin D monitoring and supplementation in patients with SCD should be implemented as a standard of care to potentially improve health outcomes in these affected patients.

Sickle cell crisis as evaluated from measurements of hydroxybutyrate dehydrogenase and myoglobin in plasma.

1981 ◽  
Vol 27 (2) ◽  
pp. 314-316 ◽  
Author(s):  
E F Roth ◽  
P A Bardfeld ◽  
S J Goldsmith ◽  
E Radel ◽  
J C Williams
Keyword(s):  
Steady State ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Specificity ◽  
Mean Value ◽  
Cell Disease ◽  
Sickle Cell Crisis ◽  
The Mean ◽  
Low Sensitivity ◽  
Sickle Cell Crises

Abstract Data on plasma hydroxybutyrate dehydrogenase activity (I) and myoglobin concentration were used to evaluate painful sickle cell crises. I was increased during non-crisis steady state in patients with sickle cell disease as compared to normal values (232, SD 79.7 vs 85, SD 33 Sigma units/mL). During crisis, the mean value for I increased further to 379 (SD 139) Sigma units/mL. For 12 patients evaluated both during steady state and crisis, there was a mean increase in plasma I of 131% (SD 76%). Repeated determinations of I in sickle cell disease patients during several months while they were in steady state showed that baseline I varied by no more than 20% from the mean. Plasma myoglobin in patients with sickle cell disease was not above normal, but during crisis 21 of 39 patients tested had increased plasma myoglobin concentrations. Our data suggest that I may be a useful indicator of sickle cell crisis when the patient's own baseline value is available for comparison. Plasma myoglobin measurements give evidence of muscle damage during crisis with high specificity but low sensitivity.

scholarly journals First case of  -thalassemia in association with a  S allele: a pitfall in the neonatal screening for sickle cell disease

Haematologica ◽  
2008 ◽  
Vol 93 (11) ◽  
pp. 1754-1755 ◽  
Author(s):  
C. Lacoste ◽  
N. Bonello-Palot ◽  
K. Gonnet ◽  
F. Merono ◽  
N. Levy ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
Cell Disease ◽  
First Case ◽  
S Allele

scholarly journals The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

2019 ◽  
Vol 5 (1) ◽  
pp. 11 ◽  
Author(s):  
Ana Silva-Pinto ◽  
Maria Alencar de Queiroz ◽  
Paula Antoniazzo Zamaro ◽  
Miranete Arruda ◽  
Helena Pimentel dos Santos
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Health Care Professionals ◽  
Neonatal Screening ◽  
Screening Program ◽  
Cell Disease ◽  
Ministry Of Health ◽  
Basic Care ◽  
Main Challenge ◽  
Neonatal Screening Program

Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease (SCD) and other hemoglobinopathies. In 2005, the program coverage reached 80% of the total live births. Since then, it has oscillated between 80% and 84% globally with disparities from one state to another (>95% in São Paulo State). The Ministry of Health has also published several Guidelines for clinical follow-up and treatment for the diseases comprised by the neonatal screening program. The main challenge was, and still is, to organize the public health network (SUS), from diagnosis and basic care to reference centers in order to provide comprehensive care for patients diagnosed by neonatal screening, especially for SCD patients. Considerable gains have already been achieved, including the implementation of a network within SUS and the addition of scientific and technological progress to treatment protocols. The goals for the care of SCD patients are the intensification of information provided to health care professionals and patients, measures to prevent complications, and care and health promotion, considering these patients in a global and integrated way, to reduce mortality and enhance their quality of life.

scholarly journals Hemoglobin-Specific Antibody in a Multiply Transfused Patient With Sickle Cell Disease

Blood ◽  
1997 ◽  
Vol 89 (6) ◽  
pp. 2155-2158 ◽  
Author(s):  
Peter A. Noronha ◽  
Loyda N. Vida ◽  
C. Lucy Park ◽  
George R. Honig
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Solid Phase ◽  
Enzyme Linked Immunosorbent Assay ◽  
Antibody Activity ◽  
Cell Disease ◽  
Serum Samples ◽  
Igg Antibody ◽  
Microtiter Plates ◽  
Level Of Activity

Abstract Human hemoglobins (Hbs) are known to be immunogenic, and both normal and variant forms of Hb have been shown to stimulate antibody formation in a variety of animal species. In patients who are homozygous for the sickle Hb (HbS) mutation, transfusion of normal, HbA-containing erythrocytes provides a potential stimulus for HbA alloimmunization. We tested serum samples for the presence of anti-Hb antibody by a solid-phase enzyme-linked immunosorbent assay (ELISA) using Hb-coated polystyrene microtiter plates. Hb-bound antibody was identified using an antihuman IgG antibody. Serum samples from 89 patients with sickle cell disease were initially tested for evidence of Hb antibody. The serum from three individuals exhibited antibody activity against HbA with little or no activity against HbS. Only one of them, a multiply transfused adult with HbSS, was available for further study. When this patient's antibody was tested against a variety of normal and mutant Hbs using antibody either to human IgG or to κ chains, the anti-Hb antibody demonstrated specificity for the region of the Hb β chain corresponding to the site of the amino acid substitution of HbS. The level of activity of the patient's anti-HbA showed no significant change over 1.5 years of observation. The transfusion of erythrocytes containing Hb structurally different from that of the recipient appeared to be capable of stimulating the production of Hb-specific alloimmune antibody.

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