Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters

• Author(s): Aguiar, L ; Matos, A ; Gil, A ; Afonso, C ; Almeida, S ; Braga, L ; Lavinha, J ; Kjollerstrom, P ; Faustino, P ; Bicho, M ; Inácio, A
• Date: 2016
• Persistent ID: http://hdl.handle.net/10400.17/2799
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): Adolescent; Adult; Anemia, Sickle Cell; Child; Child, Preschool; Female; Humans; Male; Nitric Oxide; Polymorphism, Genetic; Quality of Life; Young Adult; HDE HEM PED; HDE GEN
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório da Unidade Local de Saúde São José

Description

Sickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity.