Article
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.
PLoS genetics - 1 Mar 2018
Raffield Laura M, Ulirsch Jacob C, Naik Rakhi P, Lessard Samuel, Handsaker Robert E, Jain Deepti, Kang Hyun M, Pankratz Nathan, Auer Paul L, Bao Erik L, Smith Joshua D, Lange Leslie A, Lange Ethan M, Li Yun, Thornton Timothy A, Young Bessie A, Abecasis Goncalo R, Laurie Cathy C, Nickerson Deborah A, McCarroll Steven A, Correa Adolfo, Wilson James G, Lettre Guillaume, Sankaran Vijay G, Reiner Alex P
Abstract excerpt
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-globin traits (HbS trait [SCT] and HbC trait) on important clinical phenotypes such as red blood cell parameters,...
Topics
- Adult
- Black or African American
- Anemia, Sickle Cell
- Cohort Studies
- DNA Copy Number Variations
- Erythrocytes, Abnormal
- Glomerular Filtration Rate
- Glycated Hemoglobin