The Diagnosis of Carriers of Cooley's Anaemia

Thalassaemia in Scots

“…In most instances, therefore, it will clearly be unrewarding to proceed with a full investigation of this possibility without the preliminary use of some form of simple screening test. Many have emphasized the consistent way in which, as was seen in our own subjects, the osmotic resistance is increased even in mild types of thalassaemia (e.g., Valentine and Neel, 1944;Mooney, 1952), but it is also well known that increased osmotic resistance is found in simple iron-deficiency anaemia. However, accounts of actual meancorpuscularfragilitydeterminations in both iron deficiency (Cassells, 1938) and thalassaemia are few and it seemed worthwhile to see whether the determination of this single index might serve as a suitable screening test.…”

The Frequency of Thalassaemia Minor in the Maltese Islands

“…The existence of an increased osmotic resistance of the erythrocytes in the parents and collaterals of children suffering from thalassaemia major was first noted by Caminopetros (12) who suggested that this was the basic defect in this condition. These findings have been confirmed by numerous workers (2,47,38,18,30,23,31,32,33,35,29,25,17,26,24,15).…”

“…Two reports have so far been published on thalassaemia major in Maltese subjects, one from Malta (22,23) and the other from Tunisia (28). A further twelve instances distributed in eight fa milies have been seen in Malta since 1950 (10).…”

Studies on Foetal Haemoglobin

“…In propositus N. H., target cells (6 per cent) were a feature of the highly abnormal post-splenectomy blood picture, but a similar proportion is often seen in individuals after splenectomy for non-haematological conditions. The siderocyte levels (Table I) are frequently raised in this series, as has often been noted in the literature on thalassaemia minor, in contrast to the very low levels in normal individuals (see Dacie, 1960) : the highest level (33 per cent) was seen after splenectomy in propositus N. H. The presence of stippled cells in thalassaemia is another frequent feature (Mooney, 1952), and is regarded as evidence of dyshaemopoiesis: in the present series, the affected father and son of family N and the affected members of family K all had 0.1 per cent; propositus N. H. had 0.3 per cent of stippled cells.…”

“…The presence of target cells in the peripheral blood is an accepted feature of thalassaemia (Dameshek, 1943 ;Smith, 1943 ;Valentine and Neel, 1944), and in our own cases of established thalassaemia trait they have usually varied from I to 10 per cent, but occasionally exceeded 20 per cent. Their presence is not specific for thalassaemia, however (Mooney, 1952). In the present series, proportions of target cells up to 13 per cent have been found; their presence is significant, since simple iron deficiency, overt liver disease and the presence of abnormal haemoglobin (such as Hb-C or Hb-E) had all been excluded.…”