Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject.
A patient with primary thrombocythemia, who was heterozygous for glucose-6-phosphate dehydrogenase deficiency (GdB/GdMed), was investigated to test for the clonal origin of this myeloproliferative disorder. In order to assess somatic cell mosaicism in various tissues, we have made use of the different rate of utilization of 2-deoxyglucose-6-phosphate, an analog of glucose-6-phosphate, by normal glucose-6-phosphate dehydrogenase and by the Mediterranean variant: the results demonstrate that essential thrombocythemia is a clonal disease involving the erythrocytic, granulocytic, and megakaryocytic series, without affecting monocytes, T lymphocytes, and non-T lymphocytes.
D000368:Aged; D001792:Blood Platelets / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D019298:Glucose-6-Phosphate / Q000031:analogs & derivatives*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood*; D005958:Glucosephosphates / Q000378:metabolism; D006098:Granulocytes / Q000378:metabolism*; D006412:Hematopoietic Stem Cells / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D009030:Mosaicism; D013922:Thrombocytosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
D005958:Glucosephosphates; C015785:2-deoxyglucose-6-phosphate; D019298:Glucose-6-Phosphate