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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New cord blood matching method could expand transplant access for blood cancer patients
Disease control CompletedThis study tests a new approach to stem cell transplants for people with blood cancers like leukemia and lymphoma. Patients receive a combination of umbilical cord blood and stem cells from a family member, with the cord blood chosen based on specific genetic markers rather than …
Phase 2 • Sponsor: Weill Medical College of Cornell University • Aim: Disease control
Last updated Aug 21, 2026 00:00 UTC
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Blood transfusion thresholds tested to save elderly surgical patients
Disease control CompletedThis study tests whether giving blood transfusions more liberally (when hemoglobin drops to 9 g/dL) versus more restrictively (when it drops to 7.5 g/dL) reduces death and serious complications like heart attack, stroke, or kidney injury in patients aged 70 and older undergoing n…
Phase 3 • Sponsor: Johann Wolfgang Goethe University Hospital • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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New chemo combo may lower death risk in child stem cell transplants
Disease control CompletedThis study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…
Phase 2 • Sponsor: medac GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Anemia in kids may be tied to bigger hearts, study finds
Knowledge-focused CompletedThis study explored whether low hemoglobin (anemia) is linked to an enlarged heart (cardiomegaly) in children up to 18 years old. Researchers used chest X-rays and echocardiograms to check for heart enlargement in 56 anemic children. The goal was to better understand how anemia a…
Sponsor: Universitas Sumatera Utara • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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8,400 screened in bangladesh to uncover hidden blood disorders
Knowledge-focused CompletedThis study screened 8,400 people living in Chattogram, Bangladesh to find out how common abnormal hemoglobin types are. Researchers used a blood test called HbA1c capillary electrophoresis to detect conditions like HbE trait. The goal was to understand the prevalence of these inh…
Sponsor: Bangladesh Bioscience Research Group • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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Blood disorder survey in bangladesh reveals hidden genetic burden
Knowledge-focused CompletedThis completed study looked at how often hemoglobin disorders (like thalassemia and sickle cell disease) occur in people visiting a hospital in Chattogram, Bangladesh. Researchers tested blood samples from 760 volunteers using advanced methods to find different hemoglobin types. …
Sponsor: Bangladesh Bioscience Research Group • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC
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Blood disorder survey reveals regional patterns in pakistan
Knowledge-focused CompletedThis completed study checked how often inherited blood disorders (hemoglobinopathies) occur in people from Mardan, Pakistan, and nearby areas. Researchers analyzed blood samples from 839 people using special lab tests. The goal was to gather local data to help improve public heal…
Sponsor: Bacha Khan Medical College • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:45 UTC