Newborn Screening for Sickle Cell Disease (SCD) in Awka South East Nigeria

Abstract

Background: Sickle cell Diseases (SCD) is a genetic disorder. It is the most common genetic disorder affecting black race worldwide. It carries a high mortality and morbidity when not promptly and properly managed. Early detection is key to improving the quality of life of people living with sickle cell disease especially in childhood. It has resulted in reduction in mortality rate of SCD to <1% in developed countries through newborn screening but this reduction is yet to be achieved in developing countries. Objective: To share the experience of newborn screening of SCD at COOUTH Awka. To determine the prevalence of Sickle cell disease among neonates in Anambra State. Methodology: A retrospective study of screening for SCD in new-borns carried out at Chukwuemeka Odumegwu Ojukwu University Teaching Hospital (COOUTH) Awka from 1 st September 2013 to 27 th October 2017. This was done using isoelectric focusing machine. Results: A total of 4961 children were screened, 2410 were males, while 2551 were females. 75% (3733) of the neonates had their hemoglobin genotypes as AA, while 0.3% (16) were Hb SS genotype. Prevalence of Hb SS genotype amongst newborns was 0.32%. Conclusion: This study found the prevalence of sickle cell disease in newborns to be 0.32%. Newborn screening using Isoelectric focusing machine is very valuable for early diagnosis and prompt management of SCD. There is therefore need for increased awareness of this in Anambra State.

Feasibility and acceptability of early infant screening for sickle cell disease in Lagos, Nigeria—A pilot study

“…A similar study in Abuja, Nigeria reported a prevalence of 1�4% for HbSS, 20�5% for HbAS and HbAA 77% [21]. Another similar study in Awka South-East Nigeria reported a prevalence of 0.3% for HbSS and 75% for HbAA genotype amongst newborns [36]. A study in Benin, Southern Nigeria found 75.3% HbAA, 20.6% HbAS, 1.1% HbAC, 2.8% HbSS, and 0.2% HbSC [12].…”

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…A number of recent reports have addressed acceptability and feasibility of NBS for SCD in different areas of the country: validation of the use of IEF as a screening tool in Awka, Southeast Nigeria [1541]; affirmation of the feasibility and acceptability of a SCD screening intervention program in Lagos State using the HemoTypeSC TM POC for ease and reduced cost [1542]; evaluation of HPLC as a suitable NBS method for HGB at the National Hospital Abuja [1543]; documentation of the feasibility and acceptability of integrating HGB screening into an existing community-based maternalchild HIV program to increase awareness and demand for NBS from pregnant women in Benue State, Nigeria [1544]; acceptance of NBS based on awareness, education and cultural beliefs with a preference for screening away from the birthing site in Ibadan, Nigeria [1545]; and improvement of NBS program over time in Kaduna State, Nigeria [1546]. The use of POC testing has resulted in studies, including the report from Lagos State mentioned above on HemoTypeSC TM [1542], on their reliability and effectiveness in improving the speed of analysis and impact on acceptability on parents.…”