Abstract
Background Early sickle cell disease (SCD) diagnosis has shown promise in combating SCD in many countries. The aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Patients and Methods. This was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria. Results Most physicians 132 (97.8%) were aware of prenatal SCD diagnosis, but only 51 (37.8%) would recommend it. Most physicians 129 (95.6%) routinely recommend premarital SCD genetic counseling and testing, and 89 (65.1%) were aware of the national government newborn screening program but lesser proportion 75 (55.6%) were willing to recommend it. Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. On the contrary, fewer mothers 42 (25%) were aware of prenatal SCD diagnosis, 28 (17%) were willing to partake in it, and 44 (26%) were undecided. There were discrepancies in the willingness by physicians to practice early SCD diagnosis and its uptake by mothers (p < 0.0001). The commonest reason given by both the physicians and mothers for not practicing SCD prenatal diagnosis was the high cost of the procedure. Conclusion The perceptions and practice of early SCD diagnosis was suboptimal in the study locality. Scaling up awareness and universal coverage are required.
Highlights
Sickle cell disease (SCD) is a common genetic disorder of man that is caused by a mutation in the β-globin gene [1, 2].Individuals homozygous for the sickle hemoglobin gene (HbS) have the most severe form of the disease known as sickle cell anemia [1, 2]
According to the Global Burden of Diseases (GBD), in 2010, sickle cell disorders accounted for 0.42 deaths per 100,000; 28.69 years of life lost (YLLs) per 100,000 and 53.21 years lived with disability (YLDs) per 100,000, adding up to 81.9 disability-adjusted life years (DALYs) per 100,000 [4]
Study Design and Setting. is was a cross-sectional descriptive study conducted among physicians and mothers of children with sickle cell disease (SCD) in Ekiti State between September and December 2018. e study settings were public and private hospitals located within the state. ese two groups of hospitals were selected because majority of the populace usually patronize them for their health care delivery
Summary
Sickle cell disease (SCD) is a common genetic disorder of man that is caused by a mutation in the β-globin gene [1, 2].Individuals homozygous for the sickle hemoglobin gene (HbS) have the most severe form of the disease known as sickle cell anemia [1, 2]. Sickle cell disease (SCD) is a common genetic disorder of man that is caused by a mutation in the β-globin gene [1, 2]. Nigeria has the highest burden of the disease where between 1% and 2% of newborns are born annually with the medical condition It is an important cause of childhood morbidity and mortality in the country [5, 6]. E aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Is was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria.
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