Abstract
Three members of a family, a father, his daughter and son, suffered from a congenital hemolytic anemia, which was characterized by the presence of inclusion bodies in erythrocytes after splenectomy and dark brown pigmenturia.
Their hemoglobins were thermolabile, and electrophoretically, a minor component of their Hb-A1 moved slightly faster to the anode than that of normal control at pH 6.2. The SH-radicals of patient's Hb were not blocked. The G-6-P dehydrogenase activity of the erythrocytes was elevated and catalase activity was in the normal range.
The brown pigment in the urine, isolated with Al2O3 column chromatography, was proved to have similar chemical, chromatographic and spectroscopic properties to those of mesobilfuscin, described by Siedel.
It was unsettled whether the urinary pigment was anabolic or catabolic product of heme. To persue the question, the porphyrin synthesis from 14C-δ-ALA and bile pigments formation from hemolysate by the coupled oxidation with L-ascorbic acid were performed in vitro. The porphyrin synthesis was more active in patient's hemolysate than in the control, and the formed bile pigments were not different quantitatively, chromatographycally, or spectroscopically from those of normal hemolysate. ‘Labile-iron’ was not elevated in the patient's hemoglobin.
By the Ouchterlony's methods, no haptoglobin was detected in the serum of the mother, who was not clinically affected.
The daughter was administered ATP, folic acid and pyridoxine. By this treatment, her anemia and pigmenturia were markedly improved.
On the basis of these findings pathogenesis of the disease was discussed.
