Newborn screening for sickle cell disease in a Nigerian hospital

Abstract

Sickle cell disease (SCD) is the most common genetic disorder to affect Blacks. The mortality rate associated with SCD has remained high despite the use of appropriate interventions to manage the various forms of crisis. In developed countries, newborn screening programmes are conducted routinely, which has resulted in a reduction in the SCD mortality rate from 16% to <1%. In developing countries where the disease is prevalent, newborn screening programmes are yet to be established, and the acceptability of such programmes by the parents of newly delivered infants is unknown.

Objectives: This study was carried out to determine the acceptability of newborn screening for SCD on mothers of newly delivered infants, and to establish disease prevalence amongst a newborn population in Nigeria.

Study design: This prospective cross-sectional study was conducted at St. Philomena's Hospital, Benin City with mothers of newly delivered infants and their newborn babies.

Methods: Newly delivered mothers were recruited consecutively into the study. Knowledge of their own haemoglobin phenotype status was assessed, and their wishes regarding SCD screening of their babies were determined. Babies were screened using isofocusing electrophoresis.

Results: Six hundred and thirty mothers, delivered of 649 babies, were recruited into this study. Nineteen sets of babies were twins. Two mothers refused screening for their babies and 628 mothers or caregivers accepted screening; hence the acceptance rate was 99.7%. Four hundred and fifty-seven (71%) mothers did not know their own haemoglobin phenotype. Six hundred and forty-seven babies were screened for SCD. Of these, two samples were lost to testing and one baby had an indeterminate result; these three cases were not included in the analysis. Of the 644 babies whose results were analysed, 332 (51.6%) were male, 312 (48.4%) were female, 485 (75.3%) were AA, 133 (20.6%) were AS, seven (1.1%) were AC, 18 (2.8%) were SS, and one (0.2%) was SC.

Conclusion: The majority of mothers in this study did not know their haemoglobin phenotype. Newborn screening for SCD was acceptable to 99.7% of the mothers. The prevalence of SCD in the newborn population was 3% (2.8% SS and 0.2% SC).