Electrophoresis confirmation of SS and non-sickle cell subjects using realtime PCR in Burkina Faso
Keywords:
sickle cell disease, hemoglobinopathy, cellulose acetate electrophoresis, real-time PCR, Burkina FasoAbstract
Sickle cell disease, a genetic disease that is widespread in the world, has a high prevalence in Burkina Faso. The
aim of this study was to confirm the electrophoresis of SS and non-sickle cell subjects by real-time PCR in order
to propose it as an early diagnosis method for hemoglobinopathies.
A total of 280 patients participated in this study, including 86 sickle aged 1 to 15 years (non-pregnant) cell patients
and 194 pregnant women with unknown hemoglobin genotypes and no HbSS pregnant women was detected after Hb genotype analysis. All patients underwent hemoglobin electrophoresis (EHb) and PCR tests to determine their
genotypes. In addition, those with SS hemoglobin performed serum iron, ferritin, and hemogram tests.
The sickle cell group consisted of 41.9% women and 58.1% men. PCR genotyping in pregnant women yielded the
following genotype frequencies: AA (82.4%); AC (9.3%); AS (5.2%); CC (3.1%). All EHb tests were 100%
confirmed by PCR.
PCR was 100% sensitive and specific compared to EHb tests. PCR, which allows for prenatal and perinatal testing,
also differentiates hemoglobin S from hemoglobin D, and hemoglobin C from hemoglobin A2. Therefore, the PCR
test for hemoglobin can now be recommended for routine exams of hemoglobinopathies.