Non-spherocytic hemolytic anemia due to hexokinase deficiency
MONDO:0009340Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.
Also known as: anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient, hemolytic anaemia due to hexokinase deficiency, hemolytic anemia due to hexokinase deficiency, hemolytic anemia, nonspherocytic, due to hexokinase deficiency, nonspherocytic hemolytic anaemia due to hexokinase deficiency, nonspherocytic hemolytic anemia due to hexokinase deficiency, hexokinase deficiency hemolytic anaemia, hexokinase deficiency hemolytic anemia
20 clinical trials for this condition and its sub-types.
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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: PHASE3 • 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: PHASE2 • 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