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

ABSTRACT:

Purpose

Our objective was to compare observed and expected genotype proportions from newborn screening surveys of structural hemoglobin variants.

Methods

We conducted a systematic review of newborn screening surveys of hemoglobins S and C in Africa and the Middle East. We compared observed frequencies to those expected assuming Hardy-Weinberg equilibrium (HWE). Significant deviations were identified by an exact test. The fixation index FIS was calculated to assess excess homozygosity. We compared newborn estimates corrected and uncorrected for HWE deviations using demographic data.

Results

Sixty samples reported genotype counts for hemoglobin variants in Africa and the Middle East. Observed and expected counts matched in 27%. The observed number of sickle cell anemia

SUBMITTER: Piel FB 

PROVIDER: S-EPMC4775377 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature