Haemoglobin Porto Alegre in a Cuban family

Abstract

During a screening program for abnormal hemoglobins in Havana, one case of Hb Porto Alegre was found in 23,000 cases analyzed. The ability of this variant to polymerise in vitro and the absence of clinical features in the carriers have been confirmed. These observations are now explained by the findings of high levels of glutathione in the red cells of subjects heterozygous for Hb Porto Alegre: it is suggested that the increase of glutathione is responsible for the absence of in vivo polymerization and accounts for the lack of clinical symptoms.