DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for delta-beta-thalassemia — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleDelta-beta-thalassemia maps to a 3-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 delta-beta-thalassemia 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
hemoglobin subunit beta (HBB) — HBB 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 hemdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1DXT · 1.7 Å · ligand PROTOPORPHYRIN IX CONTAINING FE (HEM). Experimental structure, not a prediction.
What the evidence adds up to
In Sardinia a delta⁺-thalassaemia was identified in 1983 where beta-globin chain synthesis is incompletely suppressed. Homozygotes for this mutation have unusually low HbA2 levels, and double heterozygosity for the delta⁺-thalassaemia gene and beta-thalassaemia normalises the HbA2 level. This condition was distinguished from previously described delta⁰-thalassaemia syndromes in which no delta-globin chain synthesis occurs. A 1966 report on (δβ) thalassaemia, or F-thalassaemia, described a family in which the propositus was a mixed heterozygote for (δβ) thalassaemia and haemoglobin B2; there was complete absence of haemoglobin A2, indicating that the (δβ) thalassaemia mutation completely suppressed the cis delta gene, while the remaining normal delta gene could increase delta chain synthesis enough to bring HbA2 within the normal range.
A 2017 case report described a beta thalassaemia intermedia phenotype resulting from a rare combination of the c.46delT (Codon15 (-T)) mutation of the beta globin gene and HPFH 3. The authors noted that close observation of genotype-phenotype correlation would provide better insight for the development of molecular therapy. A 2019 review of beta thalassaemia major in China summarised its epidemiology and treatment, stating that thalassaemia is a single gene disorder resulting from globin chain synthesis impairment through mutation or deletion of globin genes, with high associated mortality.
A bibliometric analysis covering 2013 to 2023 retrieved 5655 thalassaemia studies and found that pathogenesis of beta-thalassaemia is primarily linked to iron overload, anaemia, gene mutations, and ineffective erythropoiesis. The analysis noted that recent studies focusing on gene editing therapies present promising avenues for future investigation. No drug treatment was tested or recommended in any of these abstracts. What remains missing for delta-beta-thalassaemia specifically is any clinical trial data, any patient stratification by the exact delta⁺ or delta⁰ genotype, and any funding directed at this rare subtype rather than the more common beta-thalassaemia major.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Blood · 1983 · 29 citations · open access
Delta +-thalassemia in Sardinia
AbstractAbstract We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. Homozygotes have unusually low HbA2 levels, and double heterozygosity for this delta-thalassemia gene and beta-thalassemia normalizes the HbA2 level. The delta- thalassemia occurs on a chromosome that is identifiable using polymorphic restriction endonuclease sites. We call this condition delta +-thalassemia, to distinguish it from the previously described delta 0-thalassemia syndromes in which no delta-globin chain synthesis occurs.
Absence of Cis Delta Chain Synthesis in (δ β) Thalassemia (F-thalassemia)
AbstractAbstract (δ β) thalassemia or F-thalassemia is characterized by a thalassemic blood picture, elevated hemoglobin F, and normal hemoglobin A2. A family with (δ β) thalassemia is reported in which the propositus was a mixed heterozygote for (δ β) thalassemia and hemoglobin B2. There was complete absence of hemoglobin A2, indicating that this (δ β) thalassemia mutation completely suppressed the cis delta gene. The remaining normal delta gene was capable of increasing delta chain synthesis sufficiently to bring the hemoglobin A2 to within normal range. These findings account for the absence of elevated hemoglobin A2 in this form of thalassemia and demonstrate that (δ β) thalassemia is an entity genetically distinct from A2 thalassemia. The possible genetic mechanisms of (δ β) thalassemia are discussed.
Pediatric Investigation · 2019 · 22 citations · open access
Epidemiology and treatment of beta thalassemia major in China
AbstractThalassemia, classified as the main types α- and β-thalassemia, is a single gene disorder resulting from globin chain synthesis impairment through the mutation or deletion of globin genes. The incidence of thalassemia is high worldwide, with high associated mortality. Therefore, treatment is important to improve patient outcomes. This paper reviews the current status of β-thalassemia major in China, including its epidemiology and treatment.
International Journal of General Medicine · 2024 · 3 citations · open access
Global Trends on β-Thalassemia Research Over 10 Years: A Bibliometric Analysis
AbstractPurpose: Thalassemia, an inherited quantitative globin disorder, is the most prevalent monogenic disease globally. While severe alpha thalassemia results in intrauterine death, β-thalassemia manifests during childhood due to the "second conversion of hemoglobin", garnering increased attention in recent decades. Methods: In this study, a bibliometric analysis was conducted of thalassemia articles published in the Web of Science Core Collection database between 2013 and 2023 to establish a comprehensive overview and to identify emerging trends. A total of 5655 studies published between 2013 and 2023 were systematically retrieved, and annual publications demonstrated a steady increase, maintaining a high level over the past decade. Results: emerged as the leading authority in β-thalassemia research. Analysis of research hotspots revealed that the pathogenesis of β-thalassemia is primarily linked to iron overload, anemia, gene mutations, and ineffective erythropoiesis. Furthermore, recent studies focusing on gene editing therapies present promising avenues for future investigation. Conclusion: These findings grasp the research status of β-thalassemia and shed new light on future research frontiers.
Clinical Case Reports · 2017 · 3 citations · open access
Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and <scp>HPFH</scp> 3
AbstractThe beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype-phenotype correlation will provide a better insight for the development of molecular therapy.
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.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
