Sickle cell disease in western Sudan: genetic epidemiology and predictors of knowledge attitude and practices

Abstract

Summaryobjective To investigate the epidemiology of sickle cell disease (SCD) and determinants of knowledge, attitudes and practices (KAP) towards SCD in western Kordofan State, Sudan.methods A community-based, descriptive, cross-sectional study was conducted in three towns. Three hundred and seventy-two households were polled, and blood samples for haemoglobin phenotyping were collected from 1116 individuals. Sociodemographic, socio-economic and KAP data were collected using investigator-administered questionnaires. Descriptive, frequency distribution and multiple regression analyses were performed.results About 50.9% of the study population were Misseriya tribes. Consanguineous marriages were reported by 67.5% of the households. The highest percentage of homozygous SCD was 2.8% among children under 5 years of age. About 24.9% were carriers of HbS allele (HbAS). HbS allele frequency was highest in children aged 5-11 years (18.3%, CI: 13.7-22.9%) and lowest in males >15 years old (12.0%, CI: 6.1-17.9%). The average HbS frequency across all age groups was 14.5% (95% CI: 12.2-16.8%). The most frequent b-globin gene cluster haplotype was the Cameroon (30.8%), followed by the Benin (21.8%), the Senegal (12.8%) and the Bantu (2.2%) haplotypes. About 17.0% of all-cause child deaths were due to SCD. The estimated change in log odds of having the SS genotype per year increase in age was (À) 0.0058 (95% CI À0.0359, 0.0242). This represents a non-statistically significant 2.9% increase in 5-year mortality for individuals with the SS genotype relative to those with AS and AA genotypes. About 46.9% of the households had poor knowledge, 26.1% had satisfactory knowledge, and 26.9% had good knowledge about sickle cell disease. Mothers' and fathers' educational levels were significant predictors of good knowledge about SCD (P < 0.05). About 48.0% had a satisfactory attitude towards sickle cell disease while 30.7% had poor attitude and only 21.3 showed good attitudes. Poor knowledge about SCD and low socioeconomic status were the strongest positive predictors of poor attitude and practices towards SCD (P < 0.01).conclusions Sickle cell disease is a major health problem in West Kordofan, Sudan. Knowledge, attitude and practices towards the disease are not satisfactory. The development of public health programs is highly recommended to control and manage SCD in western parts of Sudan.keywords sickle cell disease, genetic epidemiology, western Sudan, haplotypes, knowledge attitude and practices 642

Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea

“…This limitation should not affect our study, because (1) the AI haplotype has only been found in tribes in India and in population of the eastern part of Saudi Arabia, and most of our patients originate from Western and Central Africa. In addition, none of the published studies in SCD patients from Eastern Africa have reported the presence of the AI haplotype [51][52][53][54] ; and (2) the SEN and the AI haplotypes share the rs 7482144 C/T, which is the strongest predictor of HbF expression, and is located on chromosome 11, even in the AI group [55][56][57] In our study, G6PD deficiency was not defined by gene analysis but by abnormally low G6PD activity. As G6PD deficiency is caused by mutations in the X-linked G6PD gene, heterozygous females may have normal G6PD activity or be deficient.…”

Associations of Hyper-filtration and Proteinuria with Clinical Severity Score among Adult Sudanese Sickle anemia patients

“…(Table 4 ) shows severity score grading of SCA group. 4 12.5 N:number of SCA patients; % percentage among SCA group There is no correlation observed between the severity score and renal parameters in this study, but there is positive correlation between PCR, age and systolic BP. (Table 5) shows the correlation between renal parameters, age, BP and severity score.…”

Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation

“…Sudan is located in east Africa, a region known for a high genetic diversity among its population (Hollfelder et al, 2017). The genetic make-up of the Sudanese population is under opposing homogenizing, consanguinity rate > 60% in some regions, and diversifying powers, admixture and migration including migration to and from the Middle East (Daak et al, 2016;Hollfelder et al, 2017).…”