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Genetic Modifiers of Sickle Cell Disease.

Publication ,  Journal Article
Pincez, T; Ashley-Koch, AE; Lettre, G; Telen, MJ
Published in: Hematol Oncol Clin North Am
December 2022

Sickle cell disease (SCD) is characterized by tremendous phenotypic heterogeneity across patients, but this clinical variability is poorly understood, thus motivating the search for genetic modifiers. The early identification of genetic variants that control fetal hemoglobin levels-a strong modifier of severity in SCD-served as a powerful example in support of these genetic experiments. Although there have been successful discoveries (eg, UGT1A, APOL1), many of the reported genetic associations remain controversial. The emergence of large-scale SCD cohorts and their integration into genetic and other omic-type research programs should bring SCD patients closer to the promises of precision medicine.

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Published In

Hematol Oncol Clin North Am

DOI

EISSN

1558-1977

Publication Date

December 2022

Volume

36

Issue

6

Start / End Page

1097 / 1124

Location

United States

Related Subject Headings

  • Oncology & Carcinogenesis
  • Humans
  • Fetal Hemoglobin
  • Apolipoprotein L1
  • Anemia, Sickle Cell
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology
 

Citation

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Chicago
ICMJE
MLA
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Pincez, T., Ashley-Koch, A. E., Lettre, G., & Telen, M. J. (2022). Genetic Modifiers of Sickle Cell Disease. Hematol Oncol Clin North Am, 36(6), 1097–1124. https://doi.org/10.1016/j.hoc.2022.06.006
Pincez, Thomas, Allison E. Ashley-Koch, Guillaume Lettre, and Marilyn J. Telen. “Genetic Modifiers of Sickle Cell Disease.Hematol Oncol Clin North Am 36, no. 6 (December 2022): 1097–1124. https://doi.org/10.1016/j.hoc.2022.06.006.
Pincez T, Ashley-Koch AE, Lettre G, Telen MJ. Genetic Modifiers of Sickle Cell Disease. Hematol Oncol Clin North Am. 2022 Dec;36(6):1097–124.
Pincez, Thomas, et al. “Genetic Modifiers of Sickle Cell Disease.Hematol Oncol Clin North Am, vol. 36, no. 6, Dec. 2022, pp. 1097–124. Pubmed, doi:10.1016/j.hoc.2022.06.006.
Pincez T, Ashley-Koch AE, Lettre G, Telen MJ. Genetic Modifiers of Sickle Cell Disease. Hematol Oncol Clin North Am. 2022 Dec;36(6):1097–1124.
Journal cover image

Published In

Hematol Oncol Clin North Am

DOI

EISSN

1558-1977

Publication Date

December 2022

Volume

36

Issue

6

Start / End Page

1097 / 1124

Location

United States

Related Subject Headings

  • Oncology & Carcinogenesis
  • Humans
  • Fetal Hemoglobin
  • Apolipoprotein L1
  • Anemia, Sickle Cell
  • 3201 Cardiovascular medicine and haematology
  • 1102 Cardiorespiratory Medicine and Haematology