Interaction of the β chain variant hemoglobin Leslie and the α chain variant hemoglobin Montgomery in a Black female

Abstract

A Black family is described in which the β chain variant hemoglobin Leslie, the α chain variant hemoglobin Montgomery, and α‐thalassemia‐2 occurred in different combinations. All members studied had normal hematological values and no chronic ill health. The propositus had 11% hemoglobin Montgomery, 24% hemoglobin Leslie, and only about 0.5% of the Hb Montgomery–Leslie hybrid. The mother of the propositus was a Hb Leslie heterozygote with 31% Hb Leslie. Her father had 26% and her son had 17% Hb Montgomery, suggesting that the father is heterozygous for α‐thalassemia‐2; this designation was supported by data from in vitro biosynthetic studies. The β‐Leslie chain generally shows reduced ability to pair with the normal α chain. However, in the propositus, who is heterozygous for both variants, the assembly of β‐Leslie and α‐Montgomery chains might be reduced even more, and the instability of the Hb Montgomery‐Leslie hybrid appears much greater than was expected.