Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancestral α-thalassemia mutation (-α3.7 deletion) and β-g...

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Main Authors: Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5891078?pdf=render

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http://europepmc.org/articles/PMC5891078?pdf=render

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