original-report | 30-November-2020
(Case 13), ABO*O.01.01 (Case 14), and ABO*O.01.02 (Case 15) (Table 2).
To the best of our knowledge, ABO*A(28+5788T) is the first allele with a variant at the inverted GATA-1 site (positions c.28+5784 to c.28+5789 in the intron 1 enhancer element) found in association with an altered ABO phenotype.
Based on the alignment of direct and inverted versions of ABO*A(28+5839A) sequence to the C/EBP consensus binding site (Fig. 2), variant c.28+5839G>A has the potential to alter the consensus
C. Clemente DosSantos,
Immunohematology, Volume 37 , ISSUE 4, 178–184