RESUMEN
The relationship between D-glucose-6-phosphate: NADP oxido-reductase (E.C.1.1.1.49; glucose-6-phosphate dehydrogenase; G6PD) deficiency and homozygous sickle cell (SS) disease was examined in 120 patients. The proportions of hemizygotes (22.6%) was slightly more than that observed, and the combined proportions of heterozygotes and homozygotes (28.3%) were slightly less than would be expected, in the general population, but the differences were not significant. However, the proportion of patients of abnormal G6PD status in the 10-19 years age group was 41.7%, significantly more than that found in the 20-29 years age group (0.02 less than P less than 0.05), or expected in the general population (P=0.05). Possible reasons for this are discussed. Difference in G6PD status did not affect the total haemoglobin concentration, reticulocyte count, unconjugated serum bilirubin or Hb F concentration, irreversibly sickled cell counts or plasma haemoglobin concentration, and there was no demonstrable correlation between clinical severity or leg ulceration and abnormal G6PD status.
Asunto(s)
Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/enzimología , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Rasgo Drepanocítico/sangre , Rasgo Drepanocítico/enzimología , Adolescente , Adulto , Factores de Edad , Niño , Femenino , Hemoglobinometría , Humanos , Jamaica , Masculino , Persona de Mediana EdadRESUMEN
Over a 9-year period, three adult Negro patients with beta-thalassaemia of clinical significance were recognized out of approximately 185 000 new adult patients attending the University Hospital. These patients, aged 15-58 years, have clinical and haematological characteristics within the spectrum of beta-thalassaemia intermedia; which in this paper refers to phenotypes resulting from defects in beta-chain synthesis clinically intermediate between classical Cooley's anaemia and beta-thalassaemia trait, genetic classification being dependent on family study. Family studies established the presence of two beta-thalassaemia genes conclusively in one case (proposita, family A); presumptively in another (propositus, family C); while in the remaining subject (proposita, family B), who has two similarly affected siblings, homozygosity is suspected, but not proven by family study. In simultaneous 59Fe and 51 Cr studies, estimates of effective erythropoiesis are in reasonable agreement with measurements of red cell destruction.