Hb S, Hb G-Philadelphia and α-thalassemia-2 in a Black family

Abstract

A Black family is described in which Hb S, Hb G-Philadelphia and alpha-thalassemia-2 determinants occurred in different combinations. The propositus was a healthy fullterm neonate who had 46% Hb G-Philadelphia and about 5% Hb Bart's in cord blood together with a relative microcytosis (MCV = 85 fl) and hypochromia (MCH = 28 pg). This is consistent with a diagnosis of Hb G-Philadelphia trait in association with ahomozygous alpha-thalassemia-2 (alpha 0 alpha/alpha 0 alpha G; beta A/beta A). The mother and another son also had Hb G-Philadelphia inassociation with Hb S trait but with 37% Hb G-Philadelphia and with 39% Hb S. Hemotological and biosynthetic studies confirm the assignment of the alpha alpha/alpha 0 alpha G; beta A/beta S genotype in both and that of the alpha alpha/alpha 0 alpha; beta A/beta Agenotype in the father. Despite this evidence for a moderate alpha chain deficiency in the propositus, the biosynthetic alpha/non-alpha value inthe neonatal period was a high 1.2. Similar values were observed in 8 control cord blood samples if the incubation was not delayed longer than 3 hours after collection (alpha/non-alpha = 1.28 +/- 0.14). When the propositus was studied again, but at six months of age, the proportion of Hb G-Philadelphia in peripheral blood was unchanged, a marked microcytosis and hypochromia were observed, and a distinct deficiency of alphachain synthesis (alpha/non-alpha = 0.56) was present.