Lodewijk N Went

THE BONE CHANGES IN SICKLE CELL ANAEMIA AND ITS GENETIC VARIANTS

1. The bone changes are described in fifty-one cases of sickle cell anaemia. nineteen cases of sickle cell haemoglobin C disease and two cases of sickle cell thalassaemia. 2. Avascular necrosis of the head of the femur has been found in all three types of sickle cell disease. These responded to treatment. 3. The changes found in six cases of Perthes9 disease in the negro are compared with the changes in avascular necrosis of the head of the femur in sickle cell disease. 4. Hyperplastic bone changes are seen only in true sickle cell anaemia and not in the variants. 5. Secondary osteomyelitis appears to be fairly common in sickle cell anaemia. Organisms of the salmonella group have often been found in these cases.

Sickle-cell Anaemia Complicated by Megaloblastic Anaemia of Infancy

The association between megaloblastic anaemia and various haemolytic anaemias is well documented. The most recent publications on the subject are by Chanarin et al. (1959) and Jonsson et al. (1959). The latter authors review 13 cases from the literature, and add three cases of their own. Two of these had sicklecell anaemia, and the third sickle-cell/haemoglobin-C disease. These three cases are the first examples of such a combination in adults we could find in the literature. The purpose of this communication is to report five cases of megaloblastic anaemia associated with sicklecell anaemia. These five cases were found in a series of 50 cases of megaloblastic anaemia of infancy attributable to folic-acid deficiency (MacIver and Back, 1960). We have been able to find only one other report in the literature of this association in infancy (Zuelzer and Rutzky, 1953).

Hereditary Persistence of Foetal Haemoglobin: A Family Study Suggesting Allelism of the F Gene to the S and C Haemoglobin Genes

THE existence of a genetically coiitrolled coiiditioii in which high levels of foetal Iiac~iioglobin persist into adult life is well established. In 1955, Ediiigtoii aiid Lchmaiiii described two adult5 in whom electrophoresis of haciiioglobili gave a pattern iiidistiiiguishablc froni tliat SCCII in wkle-cell anaemia, although in iieithcr case was there any aiiaeiiiia nor was there any liaematological evidence of an iiicrcased rate of blood destruction. Each patieiit Iiad a child whose sickling test gave a iicgative result aiid in whoill coiisiderably elevated lcrcls of foetal hacmoglobiii were found ; but tliere was iio iiiorphological cvidcncc of tlialassaemia ininor. Furtheifamilies showing the sanic abiioriiiality wcrc reported by Jacob and Raper (1958), Went m d MacIver (1958), and Hcriiiaii and Coiiley (1960). Wciit aiid MacIvcr (1958) labelled thc gciie rcspoiisiblc for hcrcditai y pcrsisteiicc of foetal haciiioglobm production the F gene. Motulsky (1960) described a family iii w h d i the F gciic ~vas combiiied with both tlie S aiid C hctciiio~lobi i i geiics. We now report our fiitdings in three geiicratioiis of a large Jamaica11 iicgro fanill) 111 w111ch the F gcnc is prcsciit 111 coinbination with the S aiid C gciie5. Thc finding\ 111 tliir fmiily strongly support the Iiypothe5is that the F geiic is an allclc of thc A, S, and C hacmoglobin genes.