Sickle cell disease

Ware, Russell E.; Montalembert, Mariane de; Tshilolo, Léon; Abboud, Miguel R.

doi:10.1016/s0140-6736(17)30193-9

Cited by 755 publications

(757 citation statements)

References 136 publications

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“…Newer approaches like gene editing and correction are in preclinical stages, but GTT has been FDA approved for testing in clinical trials. [12] GTT has some of the same side-effects/risks as BMT. Patients will experience temporary hair loss and there is a risk that some patients will die from complications after the procedure.…”

Section: Introductionmentioning

confidence: 99%

Patient Perspectives on Gene Transfer Therapy for Sickle Cell Disease

et al. 2017

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Introduction: Sickle cell disease (SCD) is a chronic genetic disease with high morbidity and early mortality; affecting nearly 100,000 individuals in the United States. Bone marrow transplantation, the only curative treatment, is available to less than 20% of patients, due to a number of access barriers. Gene transfer therapy (GTT) has shown to be curative in animal models, and is approved for use in humans for early-phase studies at a few centers. GTT would offer a more accessible treatment option available to all patients. It is important to understand patient perspectives on GTT to help ensure human clinical trial success. Methods: Two focus groups were conducted with younger (18–30 years) and older (≥ 31 years) adults with SCD to obtain data on patient knowledge and beliefs about GTT. Data from these two focus groups was used to develop a GTT educational brochure. A third focus group was conducted to obtain participant feedback on acceptability and feasibility of education and the brochure. Results: Most adults, especially young adults, had little knowledge about GTT and expressed fear and uncertainty about the side effects of chemotherapy (e.g., hair loss, infertility), use of a human immunodeficiency virus (HIV)-derived viral vector, and potential for cancer risk. Participants wanted full transparency in educational materials, but advised researchers not to share the vector’s relation to HIV due to cultural stigma and no HIVvirus is used for the GTT-vector. Conclusions: Older adults had more desire to participate in human clinical GTT trials than younger participants. When recruiting for trials, researchers should develop GTT educational materials that address participant lack of trust in the healthcare system, cultural beliefs, fears related to side effects, and include visual illustrations. Use of such materials will provide adults with SCD the information they need to fully evaluate GTT.

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Section: Introductionmentioning

confidence: 99%

Patient Perspectives on Gene Transfer Therapy for Sickle Cell Disease

et al. 2017

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“…Management of the clinical complications of SCD is often challenging and complex. Blood transfusion can be lifesaving in aplastic crisis, splenic sequestration, and acute chest syndrome . Transfusion is the mainstay of management in ischemic stroke, a devastating complication of SCD, and chronic transfusion regimens prevent stroke recurrence in a considerable proportion of patients …”

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confidence: 99%

Evaluation of a point‐of‐care method for screening blood donors for sickle cell status

Badawi

Garoot²,

Tahlawi

et al. 2020

Transfusion

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BACKGROUND Turbidity tests are commonly used for screening blood units for the presence of sickle cell trait (SCT) before transfusion to specific patient populations, based on recommendations of the AABB. In this pilot study, we evaluate a new method for screening blood donors and blood units for the presence of sickle hemoglobin. STUDY DESIGN AND METHODS This study was based at King Abdulaziz University Hospital in Jeddah, Saudi Arabia. Study participants were approached consecutively between July 24, 2016, and August 8, 2016. Blood donors, control individuals, and known patients with sickle cell disease (SCD) were tested using both a point‐of‐care testing technology (Sickle SCAN, Biomedomics, Inc.) and hemoglobin capillary electrophoresis (HEP). Corresponding blood units were also tested using Sickle SCAN. RESULTS A total of 200 donors, 13 blood units, and 57 patients and controls were included. Sensitivity and specificity of Sickle SCAN for detection of SCT and SCD was 100%, when compared to HEP as the gold standard. CONCLUSION Sickle SCAN is a rapid test that shows high sensitivity and specificity for identification of hemoglobin S among blood donors and when used for testing blood units.

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“…Sickle Cell Disease (SCD) is an autosomal recessive inherited blood condition that has recently been reviewed elsewhere (Piel et al , ; Ware et al , ). Briefly, the sickle mutation causes a substitution of valine for glutamic acid at position 6 of the beta globin chain.…”

Section: Introductionmentioning

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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Sickle cell disease

Cited by 755 publications

References 136 publications

Patient Perspectives on Gene Transfer Therapy for Sickle Cell Disease

Patient Perspectives on Gene Transfer Therapy for Sickle Cell Disease

Evaluation of a point‐of‐care method for screening blood donors for sickle cell status

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

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