Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium.

Frédéric B PielThomas V AdamkiewiczDjesika AmendahThomas N WilliamsSunetra GuptaScott D Grosse

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Differences between observed and expected genotype frequencies are common in surveys of hemoglobin variants in the study regions. Further research is required to identify and quantify factors responsible for such deviations. Estimates based on HWE might substantially underestimate the annual number of SCA-affected newborns (up to one-third in sub-Saharan Africa and one-half in the Middle East).

Keyphrases

copy number
cross sectional
pregnant women
red blood cell
molecular dynamics
gene expression
dna methylation
aqueous solution