Interaction between beta-thalassaemia and Hb G Philadelphia associated with alpha-thalassaemia.
A man who did not produce and beta-chains did not suffer from a severe beta-thalassaemia. He was heterozygous for Hb G Philadelphia. It has been suggested that this haemoglobin variant was associated with alpha-thalassaemia and that interaction between alpha-thalassaemia and beta-thalassaemia decreased the imbalance of alpha/beta-globin biosynthesis and thereby the severity of the beta-thalassaemic disorder. Association of Hb G Philadelphia and alpha-thalassaemia in this man and his family is now demonstrated using bone marrow and reticulocytes of the propositus and one of his sons and reticulocytes only of another son.
D001853:Bone Marrow / Q000378:metabolism; D001854:Bone Marrow Cells; D005260:Female; D005914:Globins / Q000096:biosynthesis*; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification*; D006801:Humans; D008297:Male; D012156:Reticulocytes / Q000378:metabolism; D013789:Thalassemia / Q000097:blood* / Q000235:genetics / Q000378:metabolism
D006455:Hemoglobins, Abnormal; D005914:Globins