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Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors.
Serjeant, Graham R; Vichinsky, Elliott.
Afiliación
  • Serjeant GR; Sickle Cell Trust (Jamaica), 14 Milverton Crescent, Kingston 6, Jamaica. Electronic address: grserjeant@gmail.com.
  • Vichinsky E; Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, University of California San Francisco, 747 52nd Street, Oakland, CA 94609, United States. Electronic address: evichinsky@mail.cho.org.
Blood Cells Mol Dis ; 70: 66-77, 2018 05.
Article en En | MEDLINE | ID: mdl-28689691
The single base molecular substitution characterizing sickle cell haemoglobin, ß6glu→val, might be expected to result in predictable haematological and clinical features. However, the disease manifests remarkable diversity believed to reflect the interaction with other genetic and environmental factors. Some of the genetic modifiers include the beta globin haplotypes, alpha thalassaemia, factors influencing the persistence of fetal haemoglobin and the effects of the environment are addressed in this review. It is concluded that much of the genetic data present conflicting results. Environmental factors such as climate and infections, and psychological, educational and social support mechanisms also influence expression of the disease. These interactions illustrate how the expression of a 'single gene' disorder may be influenced by a variety of other genetic and environmental factors.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hemoglobina Falciforme / Homocigoto / Anemia de Células Falciformes / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Blood Cells Mol Dis Asunto de la revista: HEMATOLOGIA Año: 2018 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hemoglobina Falciforme / Homocigoto / Anemia de Células Falciformes / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Blood Cells Mol Dis Asunto de la revista: HEMATOLOGIA Año: 2018 Tipo del documento: Article