Genetika · 1984
[Changes in the hemoglobin fractions of nephroblastoma patients].
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Sotnikova E N, Durnov L A, Zhordania R V, Gar'kavtseva R F, Bukhny A F
Аннотация
Hemoglobin fractions were studied in 80 patients suffering from nephroblastoma (Wilms' tumor). 10 out of 80 children had an elevated fetal hemoglobin value, higher than 2.5%, but as there was no other evidence for a thalassemia, we could not refer these patients to delta beta-thalassemia heterozygotes. An electrophoretic study of hemolyzates showed that 4 children had a uniform "quickly-proceeding" anomalous hemoglobin fraction localized in front of HbA2 which decreased in time. In one case, this anomaly was discovered in propositus and also in his father and paternal grandmother. A child suffering from unilateral sporadic Wilms' tumor and his mother had a Negro type hereditary persistence of fetal hemoglobin (HPHF). This complex of Wilms' tumor and HPHF is described for the first time. HPHF and nephroblastoma complex as a possible variant of intersticial deletion of the short arm of chromosome 11 is discussed. The diagnostic value of the study of hemoglobin fractions and the activity of enzymes (catalase, LDH-A), whose genes are localized on the short arm of chromosome 11, are also discussed. It would be useful for genetic counselling to select a group of children with high risk for nephroblastoma.