Barriers and Facilitators of Premarital Genetic Counseling for Sickle Cell Disease in Northern Nigeria.

In high-income countries, premarital genetic counseling for Sickle Cell Disease (SCD) is a standard practice. However, in Nigeria, there is no formal premarital genetic counseling program available for SCD. We conducted a series of focus group discussions with health care professionals, patients with SCD, and parents of the patients with or without SCD to gain an understanding of their attitudes and beliefs towards SCD/Sickle Cell Trait and premarital genetic counseling for SCD. Data were analyzed using Charmaz's constructivist grounded theory approach. Two themes were highlighted in the analysis as follows: (1) the difference between the perception of premarital sickle cell screening among individuals with SCD versus the general population, and (2) the personal beliefs and physical challenges that could lead to the avoidance of premarital screening within the general community. Lack of disease-related knowledge, testing facilities, transportation, and stigma associated with the disease were the most commonly perceived barriers to premarital testing. Also, a willingness to receive premarital testing for SCD exists within our community to reduce the spread of the disease and advocate for improved health-related quality of life of patients with SCD. The content and structure of a premarital genetic counseling program in Kano, Northern Nigeria, needs to be developed.

High Systolic Blood Pressure, Anterior Segment Changes and Visual Impairment Independently Predict Sickle Cell Retinopathy.

Sickle cell disease is often complicated by retinopathy, which can be proliferative or non proliferative. Proliferative sickle cell retinopathy potentially leads to blindness. There is a paucity of data on sickle cell disease-related retinopathy from Africa, where the disease is most prevalent. We aimed to determine the clinical, ophthalmic, and laboratory predictors of sickle cell retinopathy in an African population. We conducted a cross-sectional study of 262 participants, aged 13 years and above, with sickle cell disease. Demographic and clinical data were collected using a structured questionnaire and standard physical examinations. Vitreo-retinal specialists performed eye examinations on all the participants. Hematological and biochemical assessments were conducted using standard methods. A multivariate stepwise forward logistic regression was performed to determine the predictors of retinopathy. The median age of the participants was 20 years (interquartile range: 17-25 years). Most of the participants had a homozygous Hb S (HBB: c.20A>T) genotype (96.9%), with 3.1% who carried a Hb S/Hb C (HBB: c.19G>A) genotype. The prevalence of non proliferative sickle cell retinopathy was 24.4%. Only 1.9% had proliferative sickle cell retinopathy (PSCR). Elevated systolic blood pressure (BP) [odds ratio (OR): 6.85, 95% confidence interval (95% CI): 1.05-44.45, p = 0.059], moderate visual impairment (OR: 5.2, 95% CI: 1.39-19.63, p = 0.015), and anterior segment changes (OR: 2.21, 95% CI: 1.19-4.13, p = 0.012) were independently predictive of retinopathy. This study provides new insight into predictors of retinopathy in sickle cell disease, with implications on early screening and prevention.

Low educational level of head of household, as a proxy for poverty, is associated with severe anaemia among children with sickle cell disease living in a low-resource setting: evidence from the SPRING trial.

Severe anaemia, defined as haemoglobin level < 6·0 g/dl, is an independent risk factor for death in individuals with sickle cell disease living in resource-limited settings. We conducted a cross-sectional study of 941 children with sickle cell anaemia, who had been defined as phenotype HbSS or HbSß0 thalassaemia, aged five to 12 years, and were screened for enrollment into a large primary stroke prevention trial in Nigeria (SPRING; NCT02560935). The main aim of the study was to determine the prevalence and risk factors for severe anaemia. We found severe anaemia to be present in 3·9% (37 of 941) of the SPRING study participants. Severe anaemia was significantly associated with the lower educational level of the head of the household (P = 0·003), as a proxy for poverty, and a greater number of children per room in the household (P = 0·004). Body mass index was not associated with severe anaemia. The etiology of severe anaemia in children living with sickle cell anaemia in Nigeria is likely to be multifactorial with an interplay between an individual's disease severity and other socio-economic factors related to poverty.

Wheezing is common in children with sickle cell disease when compared with controls.

In children with sickle cell disease (SCD), wheezing may occur in the absence of asthma. However, the prevalence of wheezing in children with SCD when compared with children without SCD (controls) in the same setting is unknown. Using a case-control study design, we tested the hypothesis that children with SCD would have a higher rate of wheezing than those without SCD. We enrolled 163 children with SCD (cases) and 96 children without SCD (controls) from a community hospital in Nigeria. Parent reports of respiratory symptoms were identified based on responses to questions taken from the American Thoracic Society Division of Lung Diseases' Questionnaire. The median age was 8.5 years for children with SCD and 7.7 years for controls. Cases were more likely than controls to report wheezing both with colds (17.3% vs. 2.1%, P<0.01) and without colds (4.9% vs. 0%, P=0.03). Cases had 9.8 times greater odds of wheezing (95% confidence interval, 2.3-42.2). In the multivariable model, the only variable associated with wheezing was SCD status (odds ratio=18.7, 95% confidence interval, 2.5-142; P=0.005). Children with SCD experience a significantly higher rate of wheezing when compared with children of similar age without SCD.

Neurologic complications in children under five years with sickle cell disease.

INTRODUCTION: Sickle Cell Disease (SCD) is one of the most common genetic diseases in the world affecting every organ. The major challenge in the medical care of children with SCD is preventing end-organ dysfunction, particularly the brain. Major neurologic complications in children less than five years with SCD include, but are not limited to, Silent cerebral infarct, cerebral sinus thrombosis, epilepsy, reversible encephalopathy syndrome, and ischemic and hemorrhagic stroke. Recurrent headaches and migraine are not rare in children under five years with SCD. This review will focus on the neurologic complications and the description of the modifiable risk factors in children less than 5 years of age with emphasis on differences between high and low resource settings. AREAS COVERED: Neurologic complications of children under 5 years of age and the modifiable risk factors. The PUBMED database was searched using medical subject headings (MeSH) and keywords for articles regarding neurologic complications in children under 5 years of age. CONCLUSION: Neurologic complications in children under five years of age with SCD may be more frequent than currently reported, among which Silent cerebral infarct and cognitive impairment are the most common.