Prevalence, determinants and impact of haemoglobin phenotype misdiagnosis among parents of children living with sickle cell disease in Nigeria

INTRODUCTION: Nigeria has the highest number of children with sickle cell disease (SCD) with a consistent prevalence of 2 to 3% despite increased awareness and widespread premarital screening. In our practice, we observed that complaints of haemoglobin phenotype misdiagnosis are common among parents with children living with SCD. The present study was thus carried out to identify the prevalence, determinants, as well as the perceived impacts of haemoglobin phenotype misdiagnosis in Lagos, Nigeria.

METHODS: The study included parents of children with sickle cell disease aged below 18 years. Interviewer administered Questionnaires were used to obtain relevant biodata, sociodemographic data and assessment of perceived impact from both caregivers and their children, between May and July 2019
RESULTS: Fifty-nine (32.4%) out of the 182 parents recruited have had previous haemoglobin phenotype misdiagnosis. Misdiagnosis was significantly more in individuals in upper social class and those that had the test in private laboratories. Clinical, psychosocial and economic impacts of having affected child with SCD were reported
DISCUSSION AND CONCLUSION: The frequency of wrong haemoglobin phenotype diagnosis is alarmingly rampant amongst parents of children with SCD. This is potentially devastating to these families and the society, hence the government needs to step up, audit and enforce regulatory oversight of laboratories as well as institute a nationwide newborn screening programme to replace the existing widespread use of haemoglobin electrophoresis for diagnosis of SCD.