DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial hemolytic anemia — screening already-approved drugs against its 33-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFamilial hemolytic anemia maps to a 33-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for familial hemolytic anemia is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
succinate-CoA ligase GDP-forming subunit beta (SUCLG2) — SUCLG2 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet 3s,5s,9r,20r,21rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6WCV · 1.52 Å · ligand (3S,5S,9R,20R,21R)-1-[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-4-hydroxy-3-(phosphonooxy)tetrahydrofuran-2-yl]-3,5,9,20,
21-pentahydroxy-8,8-dimethyl-10,14,19-trioxo-2,4,6-trioxa-18-thia-11,15-diaza-3,5-diphosphadocosan-22-oic acid 3,5-dioxide (non-preferred name) (TUY). Experimental structure, not a prediction.
What the evidence adds up to
The 1947 review of hemolytic anemias provides no specific data on incidence, treatment, or outcomes; it is a general clinical description from an era before modern diagnostics. A 2020 Danish registry study covering 1980–2016 identified 5868 patients with acquired hemolytic disorders, including 2715 with autoimmune hemolytic anemia (AIHA), 112 with cold agglutinin disease, 397 with drug-induced hemolysis, 116 with paroxysmal nocturnal hemoglobinuria, and 2154 with acquired hemolysis not otherwise specified. The incidence of AIHA rose from 0.81 per 100,000 person-years in 1980–1993 to 1.77 in 2008–2016; prevalence increased from 2.52 to 17.01 per 100,000 over the same period. Drug-induced hemolysis incidence fell from 0.31 to 0.12 per 100,000 person-years. Paroxysmal nocturnal hemoglobinuria incidence rose from 0.04 to 0.08. All rates increased with age. The study does not address familial hemolytic anemia.
A 2013 case report describes a patient with hereditary spherocytosis who was initially misdiagnosed as having pyruvate kinase deficiency. The patient carried a heterozygous PKLR gene mutation (994G>A, Gly332Ser) and a promoter substitution (-148C>T), but further investigation revealed spectrin deficiency, and family studies showed the hemolysis was entirely due to hereditary spherocytosis. This illustrates that molecular findings can be misleading without family investigations. A 2015 review states there is no generic treatment for hemolytic anemia; management depends on identifying the underlying cause. A 2023 case report describes a 28-year-old man with hereditary spherocytosis, a novel SPTB gene mutation (c.1801C>T, p.Q601X), hyperjaundice, bile duct stone, and splenomegaly but no anemia. Splenectomy normalised his bilirubin. The report notes that the absence of typical hemolysis made diagnosis difficult.
No abstract provides efficacy data for any drug in familial hemolytic anemia. The 2015 review explicitly states there is no generic treatment. The 2023 case reports a surgical response, not a drug. What is missing is any controlled trial of a pharmacological intervention for familial hemolytic anemia, any validated biomarker to stratify patients by mutation type, and funding for a prospective study that could test a repurposed agent against a defined molecular defect.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Clinical Pathology · 1947 · 66 citations
The Hemolytic Anemias
AbstractJournal Article The Hemolytic Anemias Get access Steven O. Schwartz, M.D. Steven O. Schwartz, M.D. From the Hektoen Institute for Medical Research, Cook County Hospital, Chicago, Illinois Search for other works by this author on: Oxford Academic Google Scholar American Journal of Clinical Pathology, Volume 17, Issue 8, 1 August 1947, Pages 637–642, https://doi.org/10.1093/ajcp/17.8.637 Published: 01 August 1947 Article history Received: 21 April 1947 Published: 01 August 1947
Clinical Epidemiology · 2020 · 64 citations · open access
<p>Increasing Incidence and Prevalence of Acquired Hemolytic Anemias in Denmark, 1980–2016</p>
AbstractBACKGROUND: Acquired hemolytic disorders-autoimmune hemolytic anemia (AIHA), cold agglutinin disease (CAD), paroxysmal nocturnal hemoglobinuria (PNH), drug-induced hemolysis (DIHA), and acquired hemolysis not otherwise specified (AHNOS)-are considered rare. Despite their potentially major health implications, data regarding their incidence and prevalence are scarce. METHODS: To fill this gap we collected data regarding all patients with acquired hemolytic disorder diagnoses in 1977-2016 from the Danish National Patient Register. These data were linked with vital and migration status information from the Danish Civil Registration System. From these data combined with annual demographic data for the background population, we calculated age- and sex-specific incidence rates and prevalence proportions of acquired hemolytic disorders for specified time periods. RESULTS: Our analysis included 5868 patients with acquired hemolytic disorders (2715 with AIHA, 112 CAD, 397 DIHA, 116 PNH, and 2154 AHNOS). The incidence rates per 100 000 person-years in 1980-1993 and 2008-2016 were 0.81 and 1.77 for AIHA, 0.31 and 0.12 for DIHA, and 0.04 and 0.08 for PNH, respectively. The 2008-2016 CAD incidence rate was 0.18/100 000 person-years, CAD diagnosis code was not defined before 1994. All incidence rates increased with age. The prevalence proportion per 100 000 persons in 1980 and 2015 was 2.52 and 17.01 for AIHA, 0.80 and 1.50 for DIHA, and 0.18 and 1.04 for PNH. CAD prevalence in 2015 was 1.04/100 000 persons. CONCLUSION: Acquired hemolytic anemia incidence rates and prevalence proportions with the exception of DIHA are markedly increasing.
Archives of Internal Medicine · 1965 · 21 citations
Familial Auto-Immune Hemolytic Anemia
AbstractTHE FAMILIAL occurence of auto-immune hemolytic anemia has been rarely observed, and only three convincing reports have been published.<sup>1-3</sup>Extensive serological examination of asymptomatic family members has been undertaken in one instance.<sup>3</sup>The observation that there was an increased incidence of serological abnormalities suggests that genetic factors may play a more significant role in the pathogenesis of auto-immune hemolytic anemia than has been previously recognized. In 1963 a brother and sister with severe Coombs' positive hemolytic anemia were evaluated by the Division of Hematology, Washington University, School of Medicine. A third sibling, who died in 1949, had a history compatible with hemolytic anemia. The implication of these observations led to an evaluation of a number of consanguineous and nonconsanguineous family members. The case histories of the three affected siblings together with information compiled in the study of the asymptomatic relatives comprise the substance of this report. <h3>Subjects and</h3>

A Case of Hereditary Spherocytosis Misdiagnosed as Pyruvate Kinase Deficient Hemolytic Anemia
AbstractBACKGROUND: Hereditary spherocytosis (HS) and pyruvate kinase (PK) deficiency are the most common causes of congenital hemolytic anemia. We describe a case of HS with defective PK activity initially misdiagnosed as PK deficiency. METHODS: Hematologic investigation, SDS-PAGE analysis of red cell membrane proteins and sequencing of the PKLR gene were performed. RESULTS: The molecular characterization of the PKLR gene showed a heterozygous mutation 994G > A (Gly332Ser) associated with the promoter substitution -148C > T, whose role in the pathophysiology of PK deficiency is debated. Further investigations revealed spectrin deficiency; the family study demonstrated that the hemolysis was exclusively attributable to HS. CONCLUSIONS: The present case pinpoints to the need for extensive family investigations to correctly diagnose chronic hemolytic anemia, in particular when molecular characterization does not fully explain the clinical phenotype.
AbstractHemolytic anemia is defined as anemia due to a reduction of the RBC lifespan to less than the normal range of approximately 120 days. Patients with anemia and jaundice are often suspected to have hemolysis. Herein, different causes of hemolysis and the diagnostic algorithm are reviewed. Currently, there is no generic treatment for hemolytic anemia. Appropriate management of a patient with hemolytic anemia requires determination of the underlying cause. Treatments for the different causes of hemolytic anemia are also reviewed.
World Journal of Clinical Cases · 2023 · 4 citations · open access
Clinical manifestations of adult hereditary spherocytosis with novel <i>SPTB</i> gene mutations and hyperjaundice: A case report
AbstractBACKGROUND: The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis (HS), and to broaden the diagnostic thoughts of physicians for patients with jaundice. CASE SUMMARY: A 28-year-old male presented with jaundice, bile duct stone, and splenomegaly, but without anemia. Other causes of jaundice were excluded, and gene sequencing revealed a novel heterozygous variant of c.1801C>T (p.Q601X) in exon 14 of the SPTB (NM_01355436) gene on chromosome 14 (chr14: 65260580) in the patient's blood; the biological parents and child of the patient did not have similar variants. A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery. Thus, a novel gene variant causing HS was identified. This variant may result in the truncation of β-hemoglobin in the erythrocyte membrane, leading to loss of normal function, jaundice, and hemolytic anemia. The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease, which caused challenges for diagnosis by the clinicians. CONCLUSION: Following a definitive diagnosis, genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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