High rate of sickle cell anaemia in Sub-Saharan Africa underlines the need to screen all children with severe anaemia for the disease

2015 ◽  
Vol 104 (12) ◽  
pp. 1269-1273 ◽  
Author(s):  
Bertin Tshimanga Kadima ◽  
Jean Lambert Gini Ehungu ◽  
René Makwala Ngiyulu ◽  
Pépé Mfutu Ekulu ◽  
Michel Ntetani Aloni
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Severe Anaemia ◽  
Sub Saharan Africa ◽  
High Rate ◽  
Sub Saharan

Lung function in children with sickle cell disease from Central Africa

Thorax ◽  
2019 ◽  
Vol 74 (6) ◽  
pp. 604-606 ◽  
Author(s):  
Michele Arigliani ◽  
Robert Kitenge ◽  
Luigi Castriotta ◽  
Pathy Ndjule ◽  
Vincenzo Barbato ◽  
...  
Keyword(s):  
Lung Function ◽  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Democratic Republic ◽  
Central Africa ◽  
Sub Saharan Africa ◽  
Increased Risk ◽  
Republic Of The Congo ◽  
Sub Saharan ◽  
Restrictive Pattern

Lung function in patients with sickle cell anaemia (SCA) living in sub-Saharan Africa is largely unknown. Anthropometry and spirometry were cross-sectionally evaluated in patients with SCA (HbSS) aged 6–18 years and in schoolchildren from the Democratic Republic of the Congo. The Global Lung Initiative 2012 spirometry reference values were used. A total of 112 patients and 377 controls were included. Twenty-six per cent of patients with SCA had spirometry findings suggestive of a restrictive pattern and 41% had a FEV1 z-score <5th percentile. Wasting, increasing age and female sex were independently associated with increased risk of restrictive spirometry pattern in patients with SCA. Longitudinal studies could clarify the prognostic meaning of these findings.

Initiation of prenatal genetic diagnosis of sickle cell anaemia in Cameroon (sub-Saharan Africa)

2011 ◽  
Vol 31 (12) ◽  
pp. 1210-1212 ◽  
Author(s):  
Ambroise Wonkam ◽  
Cedrik Ngongang Tekendo ◽  
Huguette Zambo ◽  
Michael A. Morris
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Genetic Diagnosis ◽  
Sub Saharan Africa ◽  
Prenatal Genetic Diagnosis ◽  
Sub Saharan

scholarly journals Sickle cell disease in anaemic children in a Sierra Leonean district hospital: a case series

2019 ◽  
Vol 2019 (7) ◽  
Author(s):  
Maria B Italia ◽  
Sandy Kirolos
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
District Hospital ◽  
Case Series ◽  
Severe Anaemia ◽  
Sub Saharan Africa ◽  
Diagnostic Tools ◽  
Cell Disease ◽  
Sierra Leonean ◽  
Sub Saharan

Abstract Sickle cell disease (SCD) is the most common inherited haemoglobinopathy wordwide, with the highest prevalence in sub-Saharan Africa. Due to the lack of national strategies and scarcity of diagnostic tools in resource-limited settings, the disease may be significantly underdiagnosed. We carried out a 6-month retrospective review of paediatric admissions in a district hospital in northern Sierra Leone. Our aim was to identify patients with severe anaemia, defined as Hb &lt; 7 g/dl, and further analyse the records of those tested for SCD. Of the 273 patients identified, only 24.5% had had an Emmel test, among which 34.3% were positive. Furthermore, only 17% of patients with a positive Emmel test were discharged on prophylactic antibiotics. Our study shows that increased awareness of SCD symptoms is required in high-burden areas without established screening programmes. In addition, the creation or strengthening of follow-up programmes for SCD patients is essential for disease control.

scholarly journals Prevalence of sickle cell disease and sickle cell trait among children admitted to Al Fashir Teaching Hospital North Darfur State, Sudan

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Mudathir A. Adam ◽  
Nassreldeen K. Adam ◽  
Babiker A. Mohamed
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Sickle Cell Anaemia ◽  
Sickle Cell Trait ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Normal Individuals ◽  
Sub Saharan ◽  
Hb Concentration

Abstract Objective It is estimated that 50% to 90% of infants born with (SCA) in sub-Saharan Africa die before 5 years old. Northern Darfur State at western Sudan region has a multiethnic population with a high frequency of sickle cell anaemia, but little about it is published. This study aimed to determine the prevalence of sickle cell anaemia among children admitted to Al Fashir Teaching Hospital in Al Fashir, Northern Darfur State, Sudan. Results The prevalence of sickle cell disease by haemoglobin electrophoresis among these 400 children patients was 59 (14.8%). Sickle cell trait patients were 11.3% and Sickle cell disease positive patients were 3.5%. Individuals with SCA have consistently low blood Hb concentration, normal MCV and high mean WBC’s. Individuals with sickle cell trait had haematological parameters near to those of normal individuals.

scholarly journals Incidence of Sickle Cell Anaemia among Children Attending Maryam Abacha Women and Children Hospital, Sokoto

2020 ◽  
pp. 66-71
Author(s):  
S. Y. Lema ◽  
J. Suleiman ◽  
J. Ibrahim
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Sub Saharan Africa ◽  
Age Group ◽  
The World ◽  
Genotype Test ◽  
Women And Children ◽  
Sub Saharan ◽  
Male Subjects

Sickle Cell Anaemia is still considered the most common genetic disease worldwide, causing morbidity and mortality in Sub-Saharan Africa, Mediterranean areas, Middle East and India. Nigeria, being the most populous black nation in the world, bears its greatest burden in Sub-Saharan Africa. This study was conducted to determine the incidence of Sickle Cell Anaemia among children attending Maryam Abacha Women and Children Hospital, Sokoto. A total of one hundred (100) blood samples were examined for the disease. Out of the 100 children tested for the disease. (59%) were normal (HbAA), (35%) were carrier (HbAS) and (6%) were Sicklers (HbSS). The result based on gender showed that female has the highest percentage of the disease (5%) against male subjects with only (1%). A child between the age group 6-10 years has the highest rate of sickle cell anaemia (3%) while age group 11-15 years had the lowest rate of the infection. Improved knowledge regarding Sickle cell anaemia disease and its comprehensive care among Nigerian physicians will enhance quality of care for affected childrens and policy for regular genotype test by government and other stakeholders before marriage among Nigerians will help to prevent the disease.

scholarly journals Gene Therapy : The New Weapon Against Diseases Until There Difficult To Overcome: Some Current Facts Of Gene Therapy And Cases Of Sickle Cell Anaemia

2020 ◽  
Vol 4 (3) ◽  
pp. 01-07
Author(s):  
Carolle Kpoumie
Keyword(s):  
Gene Therapy ◽  
Sickle Cell ◽  
Genetic Disease ◽  
Sickle Cell Anaemia ◽  
Black People ◽  
The Body ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Mass Migration ◽  
Sub Saharan

Sickle cell anaemia is an inherited genetic disease that affects the hemoglobin chains of red blood cell hemoglobin, carrying oxygen less well through the body. It is a rare disease, however, it is the most widespread genetic disease in the world and especially widespread in sub-Saharan Africa. It causes anemia, painful seizures that affect several organs, it is also called sickle cell anemia, this disease results in a deformation of red blood cells in the form of sickle or a crescent moon, which prevents normal circulation in the blood vessels. This will cause blood flow to be blocked. It is a disease that is geographically concentrated in certain areas such as Africa, India, Brazil, the Mediterranean Basin, but it is currently found everywhere because of mass migration and has been considered since 2008 by United Nations as a public health priority. Sickle cell disease affects black people and accounts for 50% of deaths in childhood.

scholarly journals Evaluation of Vitamin D in Sickle Cell Anaemia Patients at Steady State

2020 ◽  
Vol 1 (2) ◽  
Author(s):  
Umar Aminu Abdullah ◽  
Mohammed Bashir AbdulRahman ◽  
Bello Aminu ◽  
Abubakar Umar Musa ◽  
Isah Balarabe
Keyword(s):  
Vitamin D ◽  
Steady State ◽  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Public Health Problem ◽  
Bone Fragility ◽  
Sub Saharan Africa ◽  
Major Public Health Problem ◽  
The Mean ◽  
Sub Saharan

Background: Sickle cell anaemia is a major public health problem in sub-Saharan Africa with high morbidities like bony alterations and bone fragility especially in those with vitamin D deficiency. There is paucity of research data on bone biomarkers in patients with sickle cell anaemia especially in Northern Nigeria. The aim of this study was to evaluate vitamin D in adult sickle cell anaemia patients at steady state. Materials and Methods: Seventy-seven patients with sickle cell anaemia and equal number of apparently healthy matched controls were recruited for the study. Various biochemical parameters of bone metabolism were measured. Data were analysed using IBM SPSS version 23.0. Results: The mean age of SCA adult patients and controls wer

scholarly journals Operational analysis of the national sickle cell screening programme in the Republic of Uganda

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Arielle G. Hernandez ◽  
Charles Kiyaga ◽  
Thad A. Howard ◽  
Isaac Ssewanyana ◽  
Grace Ndeezi ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Screening Programme ◽  
Cost Effective ◽  
Sub Saharan Africa ◽  
Sample Collection ◽  
Healthcare Facilities ◽  
Central Public Health ◽  
Disease Case ◽  
Sub Saharan

Background: Sickle cell anaemia is a common global life-threatening haematological disorder. Most affected births occur in sub-Saharan Africa where children usually go undiagnosed and die early in life. Uganda’s national sickle cell screening programme was developed in response to a 2014 sickle cell surveillance study that documented a high disease prevalence.Objective: This study describes the temporal and financial aspects of Uganda’s 2014–2019 sickle cell screening programme.Methods: National sickle cell screening data from Uganda’s Central Public Health Laboratories were used to calculate turn-around times (TATs) from sample collection to delivery, testing, and result reporting for blood samples collected from February 2014 to March 2019. The parameters affecting specific TATs were assessed. The exact programme expenditures were analysed to determine cost per test and per positive sickle cell disease case detected.Results: A total of 278 651 samples were analysed. The median TAT from sample collection to laboratory receipt was 8 days (interquartile range [IQR]: 6–12), receipt to testing was 3 days (IQR: 1–7), and testing to result reporting was 6 days (IQR: 3–12). Altogether, the sample continuum averaged 16 days (IQR: 11–24). Lower level healthcare facilities were associated with longer sample delivery TATs. Calendar months (January and December) and larger sample volumes impacted testing and result reporting TATs. The cost per test was $4.46 (United States dollars [USD]) and $483.74 USD per positive case detected.Conclusion: Uganda’s sickle cell screening programme is efficient and cost-effective. Universal newborn screening is the best strategy for detecting sickle cell anaemia in Uganda.

scholarly journals Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Salwa A. Musa ◽  
Areej A. Ibrahim ◽  
Samar S. Hassan ◽  
Matthew B Johnson ◽  
Asmahan T. Basheer ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Novel Mutation ◽  
Wide Spectrum ◽  
Rare Condition ◽  
Neonatal Diabetes ◽  
Abdominal Ultrasound ◽  
Sub Saharan Africa ◽  
High Rate ◽  
Genetic Characteristics ◽  
Sub Saharan

Abstract Background Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS from Sub-Saharan Africa. Here, we describe the clinical, biochemical and genetic characteristics of our patients with FBS from Sudan, a country with a high consanguinity rate. Patients & methods Eleven patients from ten unrelated Sudanese families were included. Clinical & biochemical data were documented and imaging studies done including bone survey and abdominal ultrasound. Liver biopsy was done to confirm the pathological diagnosis in 45% of cases and molecular genetics was performed through contribution with the Exeter genomics laboratory for ten patients. Results Reported consanguinity was 70% among our patients. Growth was significantly impaired at presentation with mean weights of (-5.3 ± 1.8) SD and heights (-5.4 ± 2.5) SD. Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. Six families lost undiagnosed siblings with similar clinical presentations. We identified a total of four homozygous pathogenic SLC2A2 variants in our patients, one of whom had a novel mutation. Conclusions FBS is not uncommon in Sudan where there is a high rate of consanguinity. Many cases are likely missed because of variable presentation and lack of public and professionals’ awareness. This is the first series to describe this condition from Sub-Saharan Africa.

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