Low Quantities of Hb Boyle Heights or α₂6(A4)ASP→Oβ₂ Observed in Three Members of a Caucasian Family

Abstract

Hb Boyle Heights is characterized by the deletion of aspartyl residue in position 6 of the α chain, and was first observed in 1983 in an adult Mexican male (1). The variant, present for 14%, was associated with microcytosis, increased instability, and increased affinity for oxygen. The loss of the aspartic acid residue made it possible to detect this variant by alkaline elec-trophoresis in which it migrates between the Hbs F and S. Here we describe a second observation of the same variant in three members of a Caucasian family living in South Carolina; it was present in the surprisingly low quantity o f 3.5% (average value).