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

摘要: Our objective was to compare observed and expected genotype proportions from newborn screening surveys of structural hemoglobin variants. We conducted a systematic review hemoglobins S C in Africa the Middle East. compared frequencies those assuming Hardy-Weinberg equilibrium (HWE). Significant deviations were identified by an exact test. The fixation index FIS calculated assess excess homozygosity. estimates corrected uncorrected for HWE using demographic data. Sixty samples reported counts variants Observed matched 27%. number sickle cell anemia (SCA) individuals higher than 42 samples, reaching significance (P < 0.05) 24. High values common across study regions. estimated total newborns with SCA, based on FIS, 33,261 annual births instead 24,958 38 sub-Saharan 1,109 578 12 Differences between are Further research is required identify quantify factors responsible such deviations. Estimates might substantially underestimate SCA-affected (up one-third one-half East). Genet Med 18 3, 265–274.