scholarly journals Sickle Cell Disease: Management options and challenges in developing countries

2013 ◽  
Vol 5 (1) ◽  
pp. e2013062 ◽  
Author(s):  
Daniel Ansong ◽  
Alex Osei-Akoto ◽  
Delaena Ocloo ◽  
Kwaku Ohene-Frempong Ohene-Frempong
Keyword(s):  
Developing Countries ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Health Care Professionals ◽  
Genetic Disorder ◽  
Sub Saharan Africa ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Management Options

Sickle Cell Disease (SCD) is the most common genetic disorder of haemoglobin in sub-Saharan Africa. This commentary focuses on the management options available and the challenges that health care professionals in developing countries face in caring for patients with SCD. In developing countries like Ghana, newborn screening is now being implemented on a national scale.  Common and important morbidities associated with SCD are vaso-occlusive episodes, infections, Acute Chest Syndrome (ACS), Stroke and hip necrosis. Approaches to the management of these morbidities are far advanced in the developed countries. The differences in setting and resource limitations in developing countries bring challenges that have a major influence in management options in developing countries. Obviously clinicians in developing countries face challenges in managing SCD patients. However understanding the disease, its progression, and instituting the appropriate preventive methods are paramount in its management. Emphasis should be placed on newborn screening, anti-microbial prophylaxis, vaccination against infections, and training of healthcare workers, patients and caregivers. These interventions are affordable in developing countries.

Multicenter Evaluation of HemoTypeSC as a Point-of-Care Sickle Cell Disease Rapid Diagnostic Test for Newborns and Adults Across India

2019 ◽  
Vol 153 (1) ◽  
pp. 82-87 ◽  
Author(s):  
Malay B Mukherjee ◽  
Roshan B Colah ◽  
Pallavi R Mehta ◽  
Nikhil Shinde ◽  
Dipty Jain ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
High Performance ◽  
Screening Program ◽  
Point Of Care ◽  
Genetic Disorder ◽  
Cell Disease ◽  
Point Of Care Test ◽  
Tribal Areas

Abstract Objectives Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. Methods The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. Results A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. Conclusions We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

scholarly journals Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi

2021 ◽  
Vol 66 ◽  
Author(s):  
Gerald Tegha ◽  
Hillary M. Topazian ◽  
Portia Kamthunzi ◽  
Thad Howard ◽  
Zondwayo Tembo ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Early Identification ◽  
G6pd Deficiency ◽  
The United States ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Hematological Disorders ◽  
Alpha Thalassemia

Objectives: Newborn screening in the United States and Europe allows early identification of congenital disorders but does not yet exist in most low-resource settings, especially in sub-Saharan Africa. Newborn screening can identify multiple inherited hematological disorders, but feasibility and effectiveness for Africa are not fully determined.Methods: Surplus dried blood spot collected in Central Malawi through the HIV Early Infant Diagnosis surveillance program were repurposed and tested by isoelectric focusing for sickle cell disease and trait. Additional genetic testing identified G6PD deficiency and alpha thalassemia.Results: Testing of 10,529 cards revealed an overall sickle cell trait prevalence of 7.0% (range 3.9–9.7% by district); 10 of 14 infants identified with sickle cell disease (prevalence 0.1%) were located and received care at a specialized clinic. Subsequent testing of 1,329 randomly selected cards identified alpha thalassemia trait in 45.7% of samples, and G6PD deficiency in 20.4% of males and 3.4% of females, with 29.0% of females as heterozygous carriers.Conclusion: Inherited hematological disorders are common in Central Malawi; early identification through newborn screening can improve clinical outcomes and should be supported throughout Africa.

scholarly journals Successful Management of Sickle Cell Disease Patient with Covid-19 Infection in a Low Resource Setting: Case Study

2021 ◽  
pp. 110-114
Author(s):  
Akaba Kingsley ◽  
Edu C. Betta ◽  
Akaba Edakabasi ◽  
Essien Ofonime ◽  
Bibia Glory Philemon
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Disease Patient ◽  
Sickle Cell Disease Patient ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Management Options ◽  
Adequate Hydration ◽  
History Of ◽  
The Impact

Background: Sickle cell disease (SCD) patients have greater susceptibility to infections, they are reckoned to be vulnerable patients during the current COVID-19 pandemic. SCD patients are commonly affected by pulmonary complications such as acute chest syndrome (ACS), pulmonary embolism (PE) and pneumonia that contribute significantly to mortality risks. Aim: The study was aimed at showing the impact of SARS-COV viral pandemic on SCD patients. Presentation of Case: A 42-year-old male known sickle cell disease patient, who presented with a 5 days’ history of chest pain and difficulty in breathing with a pain score of 8/10. Pain was said to be localized and, subside on the ingestion of analgesics (Tab DF118/60mg and PCM 1000mg) with no known aggravating factor, but there was associated history of difficulty in breathing. The patient was being managed as a case of vaso-occlusive crises R/O acute chest syndrome, and was commenced on adequate hydration, oxygen saturation was between 95-85%. On examination, respiratory rate was 20 cycles per minute, pulse rate – 96 beats/minute, BP and chest examination were essentially normal. CBC showed the Packed Cell Volume of 31%, White Blood Cells 15.04 x 109/L, Neutrophils 7.51x103/µL Lymphocyte 6.50 x103/µL, Monocyte 0.76 x103/µL Eosinophils 0.20x103/µL, Basophils 0.05x103/µL, Platelet 358. The electrolytes (Na-135 mmol/L, K 3.5mmol/L, HCO3-20), urea -10 mmol/L and creatinine (88mmol/L) were normal, the chest x-ray showed cardiomegaly but the lung fields were clear. The patient was administered ceftriaxone (prophylactic antibiotics – 1 g daily).  The patient tested positive to COVID-19 and was immediately transferred to the isolation centre for proper management. He was commenced on oral medication, azithromycin, dexamethasone, ivermectine, amoxicillin/clavulanic acid, vitamin C, clexane and the analgesic was changed to paracetamol and dihydrocodeine to alternate 3 hourly with accordance to the national guidelines. In addition, he was administered subcutaneous enoxaparin due to the hypercoagulability state of SCD. The patient’s health status improved within 24hours of commencement of the above medications and remained stable all through the period of isolation and a repeat covid-19 test was done 15 days of admission using and reverse transcriptase PCR and was discharged home according to the National protocol. Conclusion: Studies and clinical trials are essential to evaluate effective diagnostic and management options for SCD patients and other high-risk conditions like diabetes hypertension, cancer patients and so on that are associated with fatal complications when infected with COVID-19 and similar diseases.

scholarly journals Utilising the ‘Getting to Outcomes®’ Framework in Community Engagement for Development and Implementation of Sickle Cell Disease Newborn Screening in Kaduna State, Nigeria

2018 ◽  
Vol 4 (4) ◽  
pp. 33 ◽  
Author(s):  
Baba P.D. Inusa ◽  
Kofi A. Anie ◽  
Andrea Lamont ◽  
Livingstone G. Dogara ◽  
Bola Ojo ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Community Engagement ◽  
Implementation Science ◽  
Healthcare System ◽  
Sickle Cell ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Sub Saharan ◽  
Getting To Outcomes

Background: Sickle Cell Disease (SCD) has been designated by WHO as a public health problem in sub-Saharan Africa, and the development of newborn screening (NBS) is crucial to the reduction of high SCD morbidity and mortality. Strategies from the field of implementation science can be useful for supporting the translation of NBS evidence from high income countries to the unique cultural context of sub-Saharan Africa. One such strategy is community engagement at all levels of the healthcare system, and a widely-used implementation science framework, “Getting to Outcomes®” (GTO), which incorporates continuous multilevel evaluation by stakeholders about the quality of the implementation. Objectives: (1) to obtain critical information on potential barriers to NBS in the disparate ethnic groups and settings (rural and urban) in the healthcare system of Kaduna State in Nigeria; and, (2) to assist in the readiness assessment of Kaduna in the implementation of a sustainable NBS programme for SCD. Methods: Needs assessment was conducted with stakeholder focus groups for two days in Kaduna state, Nigeria, in November 2017. Results: The two-day focus group workshop had a total of 52 participants. Asking and answering the 10 GTO accountability questions provided a structured format to understand strengths and weaknesses in implementation. For example, we found a major communication gap between policy-makers and user groups. Conclusion: In a two-day community engagement workshop, stakeholders worked successfully together to address SCD issues, to engage with each other, to share knowledge, and to prepare to build NBS for SCD in the existing healthcare system.

Platelet-Neutrophil Aggregates Promote Pulmonary Arteriole Microembolism in Sickle Cell Disease

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 2162-2162
Author(s):  
Margaret F. Bennewitz ◽  
Ravi Vats ◽  
Egemen Tutuncuoglu ◽  
Mark T. Gladwin ◽  
Prithu Sundd
Keyword(s):  
Sickle Cell Disease ◽  
Molecular Mechanism ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Genetic Disorder ◽  
Acute Chest Syndrome ◽  
Cellular Trafficking ◽  
Anatomical Site ◽  
Cell Disease ◽  
Pulmonary Microcirculation

Abstract Introduction: Sickle cell disease (SCD) is an autosomal recessive genetic disorder that affects ~100,000 Americans and millions of people worldwide. The acute chest syndrome (ACS), a form of acute lung injury, is a major cause of morbidity among SCD patients. The current treatment for ACS is primarily supportive and the molecular mechanism remains largely unknown. SCD patients hospitalized with vaso-occlusive pain crisis (VOC) often develop ACS within the ensuing days, suggesting a role for pulmonary vaso-occlusion in the onset of ACS. However, the cellular and molecular mechanism and the anatomical site of pulmonary vaso-occlusion are still elusive. Materials and Methods: Intravenous (IV) bacterial lipopolysaccharide (LPS) was used to induce VOC in SCD mice. Intravital multiphoton excitation (MPE) fluorescence microscopy was used to study the blood cell trafficking within the pulmonary microcirculation of live SCD or control mice. Fluorochrome-conjugated anti-mouse Ly-6G, Ter-119, and CD49b antibodies were administered IV for in vivo staining of circulating neutrophils, red blood cells and platelets, respectively. Cellular trafficking was recorded at baseline and 2 hours after IV challenge with LPS. Image sequences were analyzed to identify vaso-occlusion, which was defined as cellular aggregation and stasis of blood flow within the pulmonary blood vessels. Results and Discussion: Preliminary data using MPE imaging in transgenic SCD mice revealed that vaso-occlusion was absent at baseline in unchallenged SCD mice and the cellular trafficking within the pulmonary microcirculation was comparable in SCD and control mice. Doses of IV LPS (0.01-5 mg/kg of body weight), which were innocuous to control mice were found to be lethal to SCD mice. Remarkably, MPE imaging of the lung microcirculation revealed that IV LPS led to microembolism of the pre-capillary pulmonary arterioles by platelet-neutrophil aggregates in SCD but not control mice. The microembolism involved either entrapment of circulating platelet-neutrophil aggregates or in situ aggregation through sequential steps of neutrophil arrest on the arteriolar endothelium, followed by platelet nucleation on arrested neutrophils and microthrombus formation. Conclusions: Initial findings demonstrate that pulmonary vaso-occlusion in SCD mice involves microembolism of the pre-capillary pulmonary arterioles by platelet-neutrophil aggregates. Future studies will determine the molecular interactions responsible for pulmonary arteriolar microembolism. Acknowledgments: This study is supported by the 11SDG7340005 from the American Heart Association (P.S.) and the VMI startup account (P.S.). M.F.B is supported by the NIH NHLBI VMI T32 training grant T32HL110849. Disclosures No relevant conflicts of interest to declare.

scholarly journals White Paper: Pathways to Progress in Newborn Screening for Sickle Cell Disease in Sub-Saharan Africa

2018 ◽  
Vol 06 (02) ◽  
Author(s):  
Lewis Hsu ◽  
Obiageli E Nnodu ◽  
Biobele J Brown ◽  
Furahini Tluway ◽  
Shonda King ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
White Paper ◽  
Sub Saharan Africa ◽  
Cell Disease ◽  
Sub Saharan

Contemporary Management and Prevention of Vaso-Occlusive Crises (VOCs) in Adults With Sickle Cell Disease

2021 ◽  
pp. 089719002110266
Author(s):  
Salome Bwayo Weaver ◽  
Dhakrit Rungkitwattanakul ◽  
Divita Singh
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
English Language ◽  
Sub Saharan Africa ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Treatment And Prevention ◽  
Sub Saharan ◽  
Contemporary Management ◽  
Sickle Cell Crises

Sickle cell disease (SCD) is a hematological disorder that primarily affects individuals of African descent from sub-Saharan Africa and along the mediterranean. The main complications leading to hospitalizations include vaso-occlusive crises (VOCs) and acute chest syndrome (ACS). Therefore, the main objective of this paper was to identify and evaluate evidence-based management and prevention of VOCs in patients with SCD. A literature search of PubMed, Medline Cochrane and Google Scholar database (January 1985 to April 2020) was performed using the following search terms “vaso-occlusive crises”, “sickle cell disease”, “hydroxyurea”, “L-glutamine”, “voxelotor”, “crizanlizumab”, “treatment” and “prevention” as well as a combination of these terms. All English-language interventional studies assessing the efficacy and safety of VOC outcomes were evaluated. Literature was excluded if published in a language other than English or if it was a review article. A total of 69 articles were identified and there were 7 articles that met the search criteria. Majority of the studies focused on mean and median annual rates of VOCs as primary outcomes while median time to first sickle cell crises, median rates of hospitalizations etc were evaluated as secondary outcomes. After reviewing the literature, many patients with VOCs will still benefit from hydroxyurea therapy since long term efficacy data and cost is still a concern for the newer agents including L-glutamine, voxelotor and crizanlizumab. Other factors such as cost or compliance may also be taken into consideration when making recommendations for therapy.

scholarly journals Newborn sickle cell disease screening: the Jamaican experience (1995–2006)

2007 ◽  
Vol 14 (3) ◽  
pp. 117-122 ◽  
Author(s):  
L King ◽  
R Fraser ◽  
M Forbes ◽  
M Grindley ◽  
S Ali ◽  
...  
Keyword(s):  
Cohort Study ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Hospital Admissions ◽  
Current System ◽  
Acute Chest Syndrome ◽  
Published Data ◽  
Cell Disease ◽  
Care Systems

Objectives: The aim of this study was to evaluate the existing newborn sickle haemoglobinopathy screening programme in Jamaica. Methods: A retrospective analysis of infants screened during the period 8 November 1995 to 22 July 2006 was performed. Patient data for analyses was restricted to patients with homozygous (Hb SS) sickle cell disease. Published data from the Jamaican Sickle Cell Cohort Study was used to make comparisons with the study sample. Results: The study sample consisted of 435 patients with Hb SS disease. Acute chest syndrome was the most common clinical (non-death) event accounting for ∼50% of all events. Acute splenic sequestration, no longer a significant cause of mortality, was responsible for ∼32% of clinical events. Seven deaths (1.8%) occurred during the study period compared with 17.6% to the same age in the Jamaican Sickle Cell Cohort Study. There was a lower proportion of hospital admissions and episodes of serious illness in the study group compared with controls. Conclusions: Survival estimates for the study sample showed improvement compared with the Jamaican Sickle Cell Cohort Study. This study continues to demonstrate the benefits of, and as such shows support for, newborn screening and early interventions in sickle cell disease. In addition, it highlights some of the areas for continued focus and research development. Although the current system is providing an essential and beneficial service, the study emphasizes the need for newborn screening programmes to be comprehensive care systems to be fully effective.

scholarly journals Physiological properties and characteristic reactions of hydroxyurea

2020 ◽  
Vol 22 (100) ◽  
pp. 94-102
Author(s):  
O. G. Demchuk ◽  
M. R. Hrytsyna ◽  
L. O. Kobryn ◽  
M. B. Kalytovska ◽  
B. V. Gutyj
Keyword(s):  
Sickle Cell Disease ◽  
Life Expectancy ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Genetic Disorder ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Transfusion Therapy ◽  
Erythroid Precursors ◽  
Hb S

As it was mentioned in the previous paper, we observed the mechanism of action the interesting drug, first synthesized back in 1869 for the first time, called Hydroxyurea. A century later, phase I and II trials began to test its safety in humans with solid tumors. It was first approved by the FDA in 1967 for the treatment of neoplastic diseases and is presently approved for the treatment of melanoma, resistant chronic myelocytic leukemia (CML), and recurrent, metastatic testicular and ovarian cancer. Sickle cell disease is a genetic disorder that decreases life expectancy by 25 to 30 years. Individuals are diagnosed with sickle cell disease if they have one of several genotypes that result in at least half of their hemoglobin being hemoglobin S (HbS). Sickle cell anemia refers specifically to the condition associated with homozygosity for the Hb S mutation (Hb SS). Several other hemoglobin mutations, when occurring with an Hb S mutation, cause a similar but often milder disease than sickle cell anemia. In addition to reduced life expectancy, patients with sickle cell disease experience chronic pain and reduced quality of life. Painful crises, also known as vaso-occlusive crises, are the most common reason for emergency department use and hospitalization, and acute chest syndrome is the most common cause of death. Prior to the approval of hydroxyurea for use in sickle cell disease, patients with this condition were treated only with supportive therapies. These measures included penicillin in children to prevent pneumococcal disease, routine immunizations, and hydration and narcotic therapy to treat painful events. Red blood cell transfusions increase the blood’s oxygen carrying capacity and decrease the concentration of cells with abnormal hemoglobin, but chronic transfusion therapy predictably leads to iron overload and alloimmunization. Therapies such as hydroxyurea that raise fetal hemoglobin (Hb F, α2γ2) levels are promising because they effectively lower the concentration of Hb S within a cell, resulting in less polymerization of the abnormal hemoglobin.Hydroxyurea’s efficacy in sickle cell disease is generally attributed to its ability to raise the levels of Hb F in the blood; however, the mechanisms by which it does so are unclear. Early studies suggested that hydroxyurea is cytotoxic to the more rapidly dividing late erythroid precursors, resulting in the recruitment of early erythroid precursors with an increased capacity to produce HbF.

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