DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for alpha thalassemia spectrum — screening already-approved drugs against its 5-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAlpha thalassemia spectrum maps to a 5-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
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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 alpha thalassemia spectrum 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 a screening study of 13,294 subjects in Fujian Province, China, 2,658 were identified as alpha-thalassaemia carriers. The most common genotypes were –SEA/αα (63.9%) and -α3.7/αα (21.9%). Using the positive criteria of MCV < 80 fL, MCH < 27 pg, and HbA2 < 2.5%, combined screening with all three indicators achieved a detection rate of 92.6%. The distributions of these three indicators overlapped partly between the carrier and negative groups, and significant differences were found across seven common genotypes. The authors concluded that combined screening improves detection but that no single indicator is definitive.
Among anemic US veterans with no nutritional deficiency and a normal haemoglobin HPLC pattern, DNA analysis of 156 patients found alpha0-thalassaemia in 5%, alpha+-thalassaemia in 26%, and no detectable alpha-globin deletion in 69%. The authors suggested that alpha-thalassaemia DNA analysis may be useful in mild anaemia of uncertain cause, but the sample is small and the population highly selected.
A 2025 case report describes a rare −α27.6 deletion compounded with the Haemoglobin Constant Spring mutation in a Chinese couple. The wife was initially misdiagnosed as αCSα/αCSα because standard testing missed the deletion; her actual genotype was −α27.6/αCSα. The husband was αCSα/αα. Prenatal testing of the amniotic fluid showed a mild genotype (αCSα/αα), and the pregnancy was continued. The authors warn that rare deletions can cause misdiagnosis when genotype and phenotype do not match, and recommend deletion-specific genetic testing in such cases.
A 2023 review states that alpha-thalassaemia is the commonest hereditary monogenic disease worldwide, caused by loss of alpha-globin genes. Clinical conditions range from asymptomatic carrier states (loss of one or two genes) to HbH disease (three genes lost) and Hb Bart hydrops fetalis syndrome (all four genes lost), which results in intrauterine death. A separate 2024 bibliometric analysis of 5,655 thalassaemia studies published between 2013 and 2023 notes that severe alpha-thalassaemia leads to intrauterine death, while beta-thalassaemia manifests in childhood. The analysis identifies gene editing therapies as a recent research focus but provides no efficacy data.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
International Journal of General Medicine · 2021 · 16 citations · open access
Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China
AbstractBackground: Carrier screening is the most effective means of controlling the prevalence of alpha-thalassemia. However, due to the differences in ethnic populations and genotypes, the distribution of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A 2 (HbA 2 ) varies in different regions. This study aimed to examine screening efficiency of these indicators in different genotypes of alpha-thalassemia in Fujian Province, China. Methods: The data of 13,294 subjects collected from May 2016 to December 2019 were reviewed. The participants were categorized as alpha-thalassemia group and negative-for-alpha-thalassemia group based on the results of the genetic analysis. The distribution of MCV, MCH, and HbA 2 in different groups was analysed statistically. And the screening efficiency of different indicators and schemes was compared in different genotypes. The positive criteria of MCV < 80fL, MCH < 27pg, and Hb A 2 < 2.5% were applied. Results: Among the 13,294 subjects, 2658 were alpha-thalassemia carriers. The genotypes of – SEA /αα and -α 3.7 /αα are the most prevalent with 63.9% and 21.9% in Fujian Province, China. There were significant differences in the distribution of the three indicators in different groups. The detection rate of the three indicators combined screening was 92.6%. Conclusion: The distribution of the three indicators overlapped partly between alpha-thalassemia group and negative-for-alpha-thalassemia group. They showed significant differences in the median comparison of seven common genotypes. Combined screening with MCV, MCH and HbA 2 improved the detection rate of alpha-thalassemia. The results of this study provide a data basis for clinical laboratories and a reliable reference for clinical consultation. Keywords: mean corpuscular volume, mean corpuscular hemoglobin, hemoglobin A 2 , alpha-thalassemia, thalassemia screening
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.
Scholars Journal of Applied Medical Sciences · 2023 · 1 citations · open access
Alpha- Thalassemia: An Overview
AbstractAlpha-Thalassemia is the commonest hereditary monogenic disease worldwide. α-thalassemia is caused by α-globin gene losses and categorized into α-thalassemia 1 and α-thalassemia 2 depending on how many α-globin genes are functioning. Α thalassemia 1 is defined by inactivation of both α-globin genes on a chromosome, while in α-thalassemia 2, one gene is active. The clinical phenotype depends on the degree of genes impairment. This review will present an overview of α-thalassemia, its incidence, causes, and clinical characterization, and discuss different laboratory techniques used for the diagnosis.
Zenodo (CERN European Organization for Nuclear Research) · 2017 · 0 citations · open access
The Prevalence of alpha-Thalassemia in Anemic US Veterans without Nutritional Deficiency or Abnormal Hemoglobin HPLC Pattern
AbstractAlpha-thalassemia is one of the most common hemoglobin genetic abnormalities. The primary defect is the reduced or absent production of the alpha globin chains, which underlines 4 clinical conditions: 1) alpha+-thalassemia (loss of one alpha globin), 2) alpha0-thalassemia (loss of 2 alpha globins), 3) HbH disease (loss of 3 alpha globins), and 4) Hb Bart hydrops fetalis syndrome (loss of all alpha globins). Among the anemic US veteran patients, one subpopulation defies extensive workup and remains etiology unknown (normal status of iron, VitB12, and Folate, normal hemoglobin HPLC pattern, etc.). Here we present the data of alpha-thalassemia DNA analysis in this subpopulation. 156 patients were analyzed of the alpha-globin gene locus by multiplex ligation-dependent probe amplification (LabCorp, RTP, NC). The prevalence of alpha0-thalassemia was 5%, alpha+-thalassemia 26%, and negative 69%. We believe alpha-thalassemia DNA analysis might be a useful test choice in mild anemic patients with uncertain etiology.
A rare −α <sup>27.6</sup> deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple
AbstractBackground Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia. The 27.6 kb deletion on α-globin related gene cluster (−α27.6) is a rare α-thalassemia variant discovered in 2011, which could affect the detection of common α-thalassemia variants and cause misdiagnosis.Case presentation An α-thalassemia variant carrying a Chinese couple was reported in this study. The wife was diagnosed at another hospital as αCSα/αCSα but did not manifest corresponding symptoms. After further examinations and in-depth analyses of the results, the genotype of the wife was finally confirmed to be −α27.6/αCSα. Meanwhile, the genotype of the husband was diagnosed as αCSα/αα. The couple requested prenatal diagnosis in the worry of α-thalassemia caused by αCSα/αCSα. Genetic tests on the amniotic fluid reported a mild thalassemia-related genotype of αCSα/αα, on which our suggestion of continuing pregnancy was based.Conclusion The −α27.6/αCSα case and related manifestations were first reported here expanding the gene spectrum of thalassemia. Such genotype can be misdiagnosed as αCSα/αCSα causing inaccurate estimations of thalassemia risk. To avoid these misdiagnoses, genetic tests for deletions in the related regions were advised when inconsistencies between the genotype and the phenotype were discovered.
International Journal For Multidisciplinary Research · 2023 · 0 citations · open access
Thalassemia (Beta-Thalassemia)
AbstractThalassemia is an inherited blood disorder characterized by less oxygen carrying protein (Haemoglobin) and fever red blood cells in the body than normal. There are mainly two types of thalassemia i.e. Alpha and Beta thalassemia about 1-5% of the global population 80-90 million people are the carrier of ß thalassemia which is major concern. In this review article fundamental aspects about thalassemia, it’s history is discussed. This review also focuses upon the types of ß thalassemia, pathophysiology, mechanism of transmission, diagnosis of ß thalassemia . Finally various treatment strategies and future aspects are addressed.
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.
