Genetic modifiers of long-term survival in sickle cell anemia.

ABSTRACT:

Background

Sickle cell anemia (SCA) is a clinically heterogeneous, monogenic disorder. Medical care has less-than-optimal impact on clinical outcomes in SCA in Africa due to several factors, including patient accessibility, poor access to resources, and non-availability of specific effective interventions for SCA.

Methods

Against this background, we investigated 192 African participants who underwent whole exome sequencing. Participants included 105 SCA patients spanning variable clinical expression: a "long survivor" group (age over 40 years), a "stroke" group (at least one episode of overt stroke), and a "random" group (patients younger than 40 years without overt cerebrovascular disease). Fifty-eight ethnically matched homozygous hemoglobin A controls were also studied. F

SUBMITTER: Wonkam A 

PROVIDER: S-EPMC7423184 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature