Further evidence for a genetic basis of haemoglobin H disease from newborn offspring of patients

Abstract

HAEMOGLOBIN H disease is usually a mild to moderate, sometimes severe, thalassaemic disease, characterized by the presence of haemoglobin (Hb) H in addition to Hb A, and intraerythrocytic inclusion bodies 1-3 . Hb H is usually not detectable in either parent of the patients. The genetic basis of the disease was a subject for speculation until Hb H was shown to consist entirely of β-polypeptide chains 4 , with a molecular formula of β 4 , while Hb A is α 2 β 2 . It is now realized that Hb H (β 4 ) is connected with α-thalassaemia 5 which, by suppressing α-chain synthesis, leads to polymerization of the unconjugated β-chains to a tetrameric form. For the same reason Hb γ4 (Bart's) and Hb δ 4 occur as a result of α-chain suppression 6,7 . Both haemoglobins can be detected in the people with Hb H disease. © 1969 Nature Publishing Group.