New molecular basis associated with CD36-negative phenotype in the sub-Saharan African population.
Emilie Le ToriellecVintuya MuralitharanPhilippe ChadebechAlicia JouardHélène Ansart-PirenneFrançoise PirenneChristophe TournamilleLaure CroisillePublished in: Transfusion (2020)
Flow cytometric analysis on the patient's blood samples allowed the diagnosis of Type I CD36 deficiency. CD36 antibodies, probably due to her past history of red blood cell transfusions, were identified by MAIPA and by Luminex technology assay. Interestingly, we identified through sequencing a new molecular basis involved in CD36 deficiency: two adenines were replaced by one guanine in Exon 4 (c.367_368delAAinsG) leading to a stop codon at Position 76.