Evidence map›Paper›PMID 38673849›Full record

ReviewInternational journal of molecular sciences2024

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.

Roberto Gambari, Aliyu Dahiru Waziri, Hemali Goonasekera, Emmanuel Peprah

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
7.9field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 4 institutions in 4 countries.

Roberto GambariCenter "Chiara Gemmo and Elio Zago" for the Research on Thalassemia, Department of Life Sciences and Biotechnology, Ferrara University, 40124 Ferrara, Italy.ORCID 0000-0001-9205-6033
Aliyu Dahiru WaziriDepartment of Hematology and Blood Transfusion, Ahmadu Bello University Teaching Hospital Zaria, Kaduna 810001, Nigeria.ORCID 0000-0003-3725-5544
Hemali GoonasekeraDepartment of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo P.O. Box 271, Sri Lanka.ORCID 0000-0001-8623-1640
Emmanuel PeprahImplementing Sustainable Evidence-Based Interventions through Engagement (ISEE) Lab, Department of Global and Environmental Health, School of Global Public Health, New York University, New York, NY 10003, USA.ORCID 0000-0002-0495-7016
Ahmadu Bello University Teaching Hospital · NGNew York University · USUniversity of Colombo · LKUniversity of Ferrara · IT

Funding

Wellcome TrustWellcome Trust innovator award 208872/Z/17/Z
6 · The paper itself

Abstract

In this short review we have presented and discussed studies on pharmacogenomics (also termed pharmacogenetics) of the drugs employed in the treatment of β-thalassemia or Sickle-cell disease (SCD). This field of investigation is relevant, since it is expected to help clinicians select the appropriate drug and the correct dosage for each patient. We first discussed the search for DNA polymorphisms associated with a high expression of γ-globin genes and identified this using GWAS studies and CRISPR-based gene editing approaches. We then presented validated DNA polymorphisms associated with a high HbF production (including, but not limited to the

Indexed as

Anemia, Sickle Cellbeta-ThalassemiaPharmacogeneticsFetal Hemoglobingamma-GlobinsHumansIron Chelating AgentsFetal Hemoglobingamma-GlobinsIron Chelating AgentsDNA polymorphismsmicroRNAspharmacogeneticspharmacogenomicsSickle-cell diseaseβ-thalassemia

Identifiers

PMID38673849
PMCPMC11050010
OpenAlexW4394755429

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.