ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Hemoglobin Phenotype Distribution Among Future Healthcare Providers: A Descriptive Cross-Sectional Study at a Ghanaian Health Sciences University.TheScientificWorldJournal · 2026Article
- Investigating HLA haplotypes as a potential risk factor for nodding syndrome: A case-control study in the Mahenge area, Tanzania.PLoS neglected tropical diseases · 2025Article
- Hemoglobin Genotype Frequencies in Lagos: Insights From Offspring of Hemoglobin AS Mothers.Cureus · 2025Article
- Dopamine D2 receptor gene Taq 1A polymorphism: genetic architecture in Indian population and comparison to global populations.Frontiers in genetics · 2025Article
- Pneumococcal infections in children with sickle cell disease before and after pneumococcal conjugate vaccines.Blood advances · 2023Article
- Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening.Frontiers in pediatrics · 2022Article
- Routine Screening for Sickle Cell Disease during Pregnancy: Epidemiological and Haemoglobin Profile in Congo.Journal of neonatal biology · 2022Article
- The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.International journal of neonatal screening · 2021Article
- Child mortality from sickle cell disease in Nigeria: a model-estimated, population-level analysis of data from the 2018 Demographic and Health Survey.The Lancet. Haematology · 2021Article
- Modelling the mortality of sickle cell disease in Africa.The Lancet. Haematology · 2021Article
- Hardy Weinberg Equilibrium Disturbances in Case-Control Studies Lead to Non-Conclusive Results.Cell journal · 2021Article
- Surveillance for sickle cell disease, United Republic of Tanzania.Bulletin of the World Health Organization · 2020Article
- Article
- Asymptomatic carriage of Plasmodium falciparum by individuals with variant blood groups and haemoglobin genotypes in southern Ghana.Malaria journal · 2020Article
- Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.Molecular genetics & genomic medicine · 2020Article
- Detection of the sickle hemoglobin allele using a surface plasmon resonance based biosensor.Sensors and actuators. B, Chemical · 2019Article
- The Author's Response: Genetic Contributions to Childhood Obesity: Association of Candidate Gene Polymorphisms and Overweight/Obesity in Korean Preschool Children.Journal of Korean medical science · 2018Article
- High birth prevalence of sickle cell disease in Northwestern Tanzania.Pediatric blood & cancer · 2018Article
- Prevalence of Sickle Cell Trait and Reliability of Self-Reported Status among Expectant Parents in Nigeria: Implications for Targeted Newborn Screening.Public health genomics · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors.
Funding
Abstract
purposeOur objective was to compare observed and expected genotype proportions from newborn screening surveys of structural hemoglobin variants.
methodsWe 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.
resultsSixty 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 (SCA) individuals was higher than expected in 42 samples, reaching significance (P < 0.05) in 24. High FIS values were common across the study regions. The estimated total number of newborns with SCA, corrected based on FIS, was 33,261 annual births instead of 24,958 for the 38 samples across sub-Saharan Africa and 1,109 annual births instead of 578 for 12 samples from the Middle East.
conclusionDifferences 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).
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