Jacobs Journal of Genetics

Sickle Cell Anemia: only one Single Point Mutation but Many Pathophysiological Issues

Published on: 2017-09-18


It has been 100 years since Herrick published the first medical case report of the anemia describing abnormal shapes of red blood cells (RBCs) and gave sickle cell anemia (SCA) its name [1]. Afterwards, Vernon Ingram [2] discovered that the defect of the disease was a single aminoacid substitution in the hemoglobin (Hb) molecule (HBBglu6val), and understanding has gradually increased since then. Even with improved knowledge of the human genome, development of new genomic tools and identification of single nucleotide polymorphisms (SNPs) associated with subphenotypes of SCA by genome-wide association studies (GWAS) [3], and more than 100 different blood and urine biomarkers have been described in SCA [4]. There is still a major challenge to combine all these variables and establish potential predictors of the SCA severity [5].