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Originally Posted by lindy
Am wondering if thrombocytopenia + hematuria has any relationship with PNH?
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Yes, both can be symptoms of PNH. But having one or more symptoms of PNH does not necessarily mean it's PNH. A flow cytometry test can help determine that.
Technically, hematuria refers to red cells in the urine, which can result from an infection, kidney problems, or other cause unrelated to bone marrow. However, the word hematuria is sometimes used to mean hemoglobin in the urine (which in PNH results form the break-up of red cells). Hemoglobin in the urine is more correctly called hemoglobinuria.
Whole (unbroken) red cells in the urine can still indicate PNH but from what I've read that's weaker evidence for PNH than having hemoglobin from broken cells in the urine.
The most noticeable symptom produced by the mutated gene in PNH is the effect on red blood cells, but platelets can be affected too, producing thrombocytopenia.