Chronic Hæmolytic Anæmia Due to Glucose-6-Phosphate Dehydrogenase Deficiency

Boy, aged 11 years Recurrent jaundice with hemolytic an&emia in infancy. Family history and investigations in 1953 suggested hereditary spherocytosis. Splenectomy at 18 months of age; no apparent benefit. Moderate degree of h2molytic anmmia persisted. Jaundice was not present after 5 years of age, and he was not seen again until July 1962. July 1962: Readmitted with history of jaundice followed by dizziness and pallor. Acutely ill, with gross pallor, but no jaundice. Hb 6-8 g%, R.B.C. 1,500,000, W.B.C. 38,000 (myelocytes 3%/), inucleated red cells 12 per 100 W.B.C., reticulocytes 10%. Serum bilirubin 0-8 mg/100 ml. Urine: no biirubin or urobilinogen. Investigations two weeks later: Serum bilirubin 15 mg/100 ml. Urinary urobilinogen: excess (+). Direct Coombs test negative. Acidified-serum (Ham's) test negative. Tests for 'complete' and 'incomplete' antibodies and for himolytic antibodies negative. Donath-Landsteinertest negative. Wet sealed films: no microspherocytes seen. Glucose-6-phosphatedehydrogenase(G-6-PD)activity of red cells absent. Heinz bodies present in approximately 30% of cells. Osmotic saline fragility before incubation normal; after incubation (24 hours at 370C), abnormally increased. Autohmmolysis after 24 hours at 37°C, 8% (normal 0-0.5%). Family history., The patient is of apparently pure English stock. One brother, now 24 years old, has had repeated attacks of anemia and jaundice requiring blood transfusions. He has a palpable spleen. The G-6-PD activity of his red cells is greatly reduced. Osmotic saline fragility before incubation, normal; after incubation, abnormally increased. Autohmemolysis after 24 hours, 3 %. A maternal first cousin, now 18 years old, has had repeated brief attacks of jaundice from early infancy throughout his life. He is not anemic (Hb 15 4 g%), but has 6% reticulocytes and the G-6-PD activity of his red cells is greatly reduced. Osmotic saline fragility before incubation, normal; after incubation, abnormally increased. Autohwemolysis after 24 hours, 6%.