“Unclassifiable” weak A blood group and deficient H phenotype (Hm) in one pedigree (original) (raw)

Clinical Genetics, 2008

Abstract

A new variant of blood group A [A(WAS)] was expressed in three generations of a Caucasian family: Phenotype included weak mixed field hemagglutination by anti‐A reagents, secretion of H substance, and presence of anti‐Ai in serum. The A(WAS) variant was inherited in a Mendelian fashion, dominant to O. A‐transferase activity was absent from cells and saliva but was 0.2% of normal A, transferase activity in serum, with a pH optimum of 6.0. Family members expressing A(WAS) also demonstrated partly deficient H type on cells (Hm). H‐transferase activity in serum was normal for a weak A subgroup and showed typical Km and acceptor specificities. Linkage of H‐modifier and ABO loci cannot be excluded.

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