An Abnormal Substance Present in the Erythroblasts of Thalassaemia Major. Cytochemical Investigations

Two New Thalassaemic Syndromes: a) Homozygous Alpha-Thalassaemia. b) Cooley-Like Disease due to Homozygous Elevated Hb A₂ Without Microcythaemia

“…On the other hand the picture of the bone marrow was not characteristic of the homozygous thalassaemia because of the macro-erythroblastosis with negative H otchkiss test. This test is usually positive in the erythroblasts of C o o l e y 's disease (16,17,18) even in benign forms of the dis ease (19). Furthermore the age of the patient (39 years) is against the diagnosis of C o o l e y 's disease.…”

Histochemical Demonstration of Uridine Diphosphate Glucose-Glycogen Glucosyltransferase and Phosphorylase in Rabbit Blood and Bone Marrow Cells on Smears and Their Distribution

“…In all steps of erythrocytic series, the UDPGGT and phosphorylase activities were not demonstrable in this experiment, but it may presumably be possible to demonstrate these enzymes in the human megaloblasts and erythroblasts, because of Occasional presence of glycogen in those cells (2,3,11,15). Its demonstration will be performed in the future.…”

Cytochemical Observations on <i>β- </i>Thalassaemia

“…PAS posi tive erythroblasts have now been described to occur regularly in sideroblastic and sideroachrestic anaemias (20,21,22), erythroleukaemias and Di G u g l ie l m o 's syndrome (14,16,17,20,21,22,23,24) and in iron deficiency anaemia (17,21,25). In addition PAS positivity was found in erythroblasts in few or isolated cases of the following diseases: pernicious anaemia (21,22), aplastic anaemia (21), leukemias (3,17), lead poisoning (26), benzol poi soning (27), polycythaemia (21) and pyridoxine responsive anae mia (28). In all these conditions, whenever the PAS positive sub stance has been subjected to further investigation it proved to be glycogen (17,21,23,25,26,33).…”

“…Only F e r r a r a (27) observed, that the PAS positive material of erythroblasts in benzol poisoning was not digestible by saliva. However, apart from the initial study of A s t a l d i et al (3), all subsequent reports dealing with thalas saemia have not been concerned with the elucidation of the nature of the PAS positive substance. Thus the initial interpretation, that the abnormal substance in thalassaemia is a gluco-or mucoprotein or a neutral mucopolysaccharide, has been generally accepted; it was based chiefly on the inability to obtain digestion of the PAS positive substance by saliva or diastase and also on positive protein reactions (3).…”

“…However, apart from the initial study of A s t a l d i et al (3), all subsequent reports dealing with thalas saemia have not been concerned with the elucidation of the nature of the PAS positive substance. Thus the initial interpretation, that the abnormal substance in thalassaemia is a gluco-or mucoprotein or a neutral mucopolysaccharide, has been generally accepted; it was based chiefly on the inability to obtain digestion of the PAS positive substance by saliva or diastase and also on positive protein reactions (3). S e n G u p t a et al (29) suggested that the PAS positive material may be an acidic mucopolysaccharide, probably similar to the PAS positive substance observed by them in the 'foam' cells of thalassaemia*.…”