A 28-year-old woman, dressmaker, was first seen on November 6, 1969, because of anemia, jaundice and palpitation on exertion. Her parents are first cousins, but other family history is non-contributory. At the age of 21 years she was noticed to be anemic and jaundiced. On admission on March 14, 1970, she was pale with mild jaundice. Liver and spleen were palpable a fingerbreadth below the costal margin.
On examination hemoglobin was 8.4 Gm. per cent, red cell count 2.25 million per cu. mm., hematocrit 26.5%, reticulocytes 8.9%, white cell count 3,700 with normal differential, and platelets 183,000 per cu. mm. MCD was 8.08 μ and osmotic fragility of the red cells was within normal limits. Apparent half-life of the autologous erythrocytes measured by
51Cr was 15.0 days. Direct antiglobulin test was negative. Marked erythroid hyperplasia was noticed in the sternal marrow aspirate. Serum bilirubin was 4.4 mg per cer cent with indirect type 3.6 mg per cent. Estimated weight of the spleen with
203Hg-MHP was 320 Gm.
Among the estimated red cell enzymes the level or pyruvate kinase decreased to 1.72 μM/min./10
10 RBC (normal 4.55±0.69). The estimation of red cell glycolytic intermediates and adenine nucleotides revealed the increase in PEP, 2-PG, 2, 3-DPG and 3-PG and the decrease in lactate formation.
A diagnosis of pyruvate kinase deficiency was made and the patient has been followed without specific treatment. There has been no change in her conditions.
Her eldest brother was examined on August 29, 1970, and no abnormality was found; the level of the erythrocyte pyruvate kinase was 5.64 μM/min./10
10 RBC.
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