The DOI matches its Crossref record; 75 of the 75 references it cites were found in a registry or an index.
Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment
Open accessAbstract
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and pathophysiology of the disorder is central to the choice of therapeutic development and intervention. In this special edition for newborn screening for haemoglobin disorders, it is pertinent to describe the genetic, pathologic and clinical presentation of sickle cell disease as a prelude to the justification for screening. Through a systematic review of the literature using search terms relating to SCD up till 2019, we identified relevant descriptive publications for inclusion. The scope of this review is mainly an overview of the clinical features of pain, the cardinal symptom in SCD, which present following the drop in foetal haemoglobin as young as five to six months after birth. The relative impact of haemolysis and small-vessel occlusive pathology remains controversial, a combination of features probably contribute to the different pathologies. We also provide an overview of emerging therapies in SCD.
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Cites
Piel, F. B., Steinberg, M. H., & Rees, D. C. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1510865 · Cited by 1,488
Piel, F. B., Patil, A. P., Howes, R. E., Nyangiri, O. A., Gething, P. W., Dewi, M., Temperley, W. H., Williams, T. N., Weatherall, D. J., & Hay, S. I. (2013) · The Lancet · doi:10.1016/s0140-6736(12)61229-x · Cited by 1,196
Steinberg, M. H., Barton, F., Castro, O., Pegelow, C. H., Ballas, S. K., Kutlar, A., Orringer, E., Bellevue, R., Olivieri, N., Eckman, J., et al. (2003) · JAMA · doi:10.1001/jama.289.13.1645 · Cited by 931
Crizanlizumab for the prevention of pain crises in sickle cell disease.
Ataga, K. I., Kutlar, A., Kanter, J., Liles, D., Cancado, R., Friedrisch, J., Guthrie, T. H., Knight-Madden, J., Alvarez, O. A., Gordeuk, V. R., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1611770 · Cited by 914
Improved survival of children and adolescents with sickle cell disease
Quinn, C. T., Rogers, Z. R., McCavit, T. L., & Buchanan, G. R. (2010) · Blood · doi:10.1182/blood-2009-07-233700 · Cited by 907
The inherited diseases of hemoglobin are an emerging global health burden
Weatherall, D. J. (2010) · Blood · doi:10.1182/blood-2010-01-251348 · Cited by 903
Grosse, S. D., Odame, I., Atrash, H. K., Amendah, D. D., Piel, F. B., & Williams, T. N. (2011) · American Journal of Preventive Medicine · doi:10.1016/j.amepre.2011.09.013 · Cited by 707
Gene therapy in a patient with sickle cell disease
Ribeil, J.-A., Hacein-Bey-Abina, S., Payen, E., Magnani, A., Semeraro, M., Magrin, E., Caccavelli, L., Neven, B., Bourget, P., El Nemer, W., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1609677 · Cited by 696
Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910.
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Metadata
- Authors
- Inusa, B., Hsu, L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K., & Atoyebi, W.
- Venue
- International Journal of Neonatal Screening
- Publisher
- MDPI AG
- Published
- 2019-05-07
- Volume
- 5
- Issue
- 2
- Pages
- 20
- ISSN
- 2409-515X (ISSN-L)
- OpenAlex
- W2944030358
- Cited by
- 313
- References
- 75
- FWCI
- 6.25
- Type
- journal article
- Language
- en
- Open access
- gold
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- Inusa, B., Hsu, L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K., & Atoyebi, W. (2019). Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment. International Journal of Neonatal Screening. https://doi.org/10.3390/ijns5020020
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
