Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
MONDO:0009946Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Also known as: P5N deficiency, UMPH1 deficiency, anemia, congenital, nonspherocytic hemolytic, 8, anemia, hemolytic, due to UMPH1 deficiency, hemolytic anemia due to P5N deficiency, hemolytic anemia due to UMPH1 deficiency, pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to, pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to
23 clinical trials for this condition and its sub-types, 1 tagged with Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency itself.
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Smartwatch signals may flag anemia, no needle needed
Diagnosis Not yet recruitingAnemia often goes unnoticed because diagnosis requires a blood draw. This study tests whether a wrist-worn smartwatch can identify people likely to have anemia by tracking blood flow, heart rate, oxygen, and movement. About 400 adults, with and without anemia, will wear the watch…
Sponsor: Peking Union Medical College Hospital • Aim: Diagnosis
Last updated Sep 03, 2026 00:00 UTC
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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC