Sickle Cell Trait: A Benign State?

Kotila, Taiwo R.

doi:10.1159/000446526

Cited by 17 publications

(15 citation statements)

References 42 publications

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“…Being the carrier state for an autosomal recessive genetic disorder, sickle cell trait is frequently perceived to be a relatively benign condition; however, this remains controversial 26‐30 . Conditions of increased oxygen demands may trigger sickle‐related complications in heterozygotes 31‐44 .…”

Section: Introductionmentioning

confidence: 99%

Sickle cell trait and the potential risk of severe coronavirus disease 2019—A mini‐review

Kehinde

Osundiji

2020

European J of Haematology

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Following the emergence of Coronavirus Disease 2019 (COVID-19) in Wuhan (China) around December 2019, 1 the infection has become a pandemic, decimating over three hundred thousand globally. 2 The severity of COVID-19 cases reported hitherto has varied greatly from asymptomatic to severe pneumonia and thromboembolism, accompanied by overt respiratory failure with subsequent mortality. 3-5 As the COVID-19 pandemic continues to evolve, potential risk factors that may predispose individuals to fatal outcomes are increasingly becoming topical. There are ongoing epidemiological investigations and discussions of potentially at-risk populations and ethnicities. 6,7 An improved understanding of the risk factors as well as clinical course for severe COVID-19 may shed some light on novel personalized approaches to optimize clinical care and outcomes. Emerging trends in the United States suggest possibly higher mortality rates of COVID-19 among African Americans, 8,9 although epidemiological study data with adequate denominator 10 across board is pending. There is no doubt that socioeconomic determinants of health play crucial roles in health inequities and disease trajectory. 11 Nevertheless, interplay of genetic and environmental factors contributes to overall clinical outcomes in a substantial burden of human diseases. 12-17 Sickle cell disease (SCD) disproportionately affects Black/ African Americans in the United States as well as forebearers from sub-Saharan Africa, the Western Hemisphere (South America, the Caribbean, and Central America), and some Mediterranean countries. 18-20 Increasing evidence suggests that COVID-19 pneumonia can cause acute chest syndrome (ACS), a potentially life-threatening complication in SCD. 21-23 These observations raise questions on the potential contributions of SCD-related complications, for instance

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Section: Introductionmentioning

confidence: 99%

Sickle cell trait and the potential risk of severe coronavirus disease 2019—A mini‐review

Kehinde

Osundiji

2020

European J of Haematology

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“…Should carriers identified in NBS be informed about their result? The carrier status (HbAS) is not completely harmless and is a risk factor for several complications, including heat-related rhabdomyolysis (Naik & Haywood, 2015;Kotila, 2016). These complications are nevertheless extremely rare and, unlike SCD, the carrier status does not fulfil the criteria required of a medical condition to justify NBS.…”

Section: Consensus Statementsmentioning

confidence: 99%

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

et al. 2018

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Summary Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two‐day Pan‐European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus‐based statements on indications and methodology for NBS for SCD in Europe. More than 50 SCD experts from 13 European countries participated in the conference. This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.

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“…Within the remaining spectra, the sickle cell trait (SCT), in which individuals carry the mutation of the HbS gene in one of the two beta-globin genes, being the other normal. 3 These patients usually remain asymptomatic, and they rarely experience vaso-occlusive crises unless they are exposed to certain conditions. 4 We discussed the case of a patient with SCT that presented with abdominal pain and pulmonary embolism.…”

Section: Introductionmentioning

confidence: 99%

Sickle cell trait: a cause of abdominal pain and pulmonary embolism

Saad

Barra

Monzoni

et al. 2020

Rev Fac Cien Med Univ Nac Cordoba

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Introduction: Sickle cell trait (SCT) is a rare and underdiagnosed disorder in the Argentinian population. In this condition, individuals carry the mutation of the HbS gene in one of the two beta-globin genes. In general, SCT does not present with the typical manifestations of sickle cell anemia. However, under certain circumstances, some clinical characteristics of the disease may develop. Methods: We discussed the case of a 39-Year old man who presented with persistent abdominal pain of unknown origin after traveling to a high-altitude place. He underwent laparotomy without a definite diagnosis. After that, the patient developed signs of splenic infarction and pulmonary thromboembolism that were confirmed by computed tomography. Results: A sickling test was positive, and a hemoglobin electrophoresis revealed an abnormal fraction at the HbS level. In this context a diagnosis of SCT was made. Additional, tests revealed a strongly positive lupus anticoagulant. Conclusion: SCT presentation as abdominal pain and thromboembolic disease in adult patients after exposure to high altitudes is a rarely suspected diagnosis.

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Sickle Cell Trait: A Benign State?

Cited by 17 publications

References 42 publications

Sickle cell trait and the potential risk of severe coronavirus disease 2019—A mini‐review

Sickle cell trait and the potential risk of severe coronavirus disease 2019—A mini‐review

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

Sickle cell trait: a cause of abdominal pain and pulmonary embolism

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