Which diagnosis is supported by high hemoglobin, low erythropoietin, and JAK2 mutation positivity?

Get ready for the CAMLPR Hematology Test. Use our quizzes, flashcards, and detailed explanations to enhance your understanding. Prepare confidently for your exam!

Multiple Choice

Which diagnosis is supported by high hemoglobin, low erythropoietin, and JAK2 mutation positivity?

High hemoglobin shows an increased red-cell mass. When erythropoietin is low, the red cells are being produced autonomously rather than in response to hypoxia, which is a hallmark of polycythemia vera, a myeloproliferative neoplasm driven by constitutive JAK-STAT signaling. The JAK2 mutation supports this diagnosis because it is found in the vast majority of polycythemia vera cases, tying together the elevated Hb, suppressed EPO, and mutation positivity. Essential thrombocythemia mainly causes high platelets with normal or only mildly elevated Hb and typically without suppressed EPO; iron deficiency anemia has low Hb with elevated EPO as a compensatory response and usually no JAK2 mutation; aplastic anemia presents with pancytopenia and does not show the JAK2-driven erythroid autonomous proliferation.

High hemoglobin shows an increased red-cell mass. When erythropoietin is low, the red cells are being produced autonomously rather than in response to hypoxia, which is a hallmark of polycythemia vera, a myeloproliferative neoplasm driven by constitutive JAK-STAT signaling. The JAK2 mutation supports this diagnosis because it is found in the vast majority of polycythemia vera cases, tying together the elevated Hb, suppressed EPO, and mutation positivity.

Essential thrombocythemia mainly causes high platelets with normal or only mildly elevated Hb and typically without suppressed EPO; iron deficiency anemia has low Hb with elevated EPO as a compensatory response and usually no JAK2 mutation; aplastic anemia presents with pancytopenia and does not show the JAK2-driven erythroid autonomous proliferation.

More practice questions