Evidence map›Paper›PMID 36907603›Full record

ReviewHematology/oncology clinics of North America2023

Molecular Basis and Genetic Modifiers of Thalassemia.

Nicolò Tesio, Daniel E Bauer

Open access · greenAbstract readReview
In one paragraph

Review in Hematology/oncology clinics of North America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 1 pooled it
15.5field-weighted citation impact, top 1% 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

45 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.

  1. Guideline
  2. Article
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  9. Article
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  11. Glomerular Injury Findings in Patients with Thalassemia Minor.International journal of molecular sciences · 2026
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Review
  18. Review
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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

2 authors at 2 institutions in 2 countries.

Nicolò TesioDepartment of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Regione Gonzole, 10, 10043 Orbassano, Turin, Italy. Electronic address: https://twitter.com/nicolotesio.
Daniel E BauerDivision of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Pediatrics, Harvard Stem Cell Institute, Broad Institute, Harvard Medical School, Boston, MA, USA. Electronic address: bauer@bloodgroup.tch.harvard.edu.
Harvard Stem Cell Institute · USOspedale San Luigi Gonzaga · IT

Funding

VIROSOME/PROTEOLIPOSOME MEDIATED GENE TRANSFERP01HL053749 · NHLBI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI RYU, BYOUNG Y · 1994 to 2022
$43.6M
Rectifying splicing mutations in blood disorders by gene editingR01HL150669 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI BAUER, DANIEL EVAN, WOLFE, SCOT A · 2020 to 2023
$3.5M
Therapeutic BCL11A enhancer gene editing to induce fetal hemoglobin in β-hemoglobinopathy patientsOT2HL154984 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI BAUER, DANIEL EVAN · 2020 to 2021
$2.6M
NHLBI NIH HHS OT2 HL154984NHLBI NIH HHS P01 HL053749NHLBI NIH HHS R01 HL150669
6 · The paper itself

Abstract

Thalassemia syndromes are common monogenic disorders and represent a significant health issue worldwide. In this review, the authors elaborate on fundamental genetic knowledge about thalassemias, including the structure and location of globin genes, the production of hemoglobin during development, the molecular lesions causing α-, β-, and other thalassemia syndromes, the genotype-phenotype correlation, and the genetic modifiers of these conditions. In addition, they briefly discuss the molecular techniques applied for diagnosis and innovative cell and gene therapy strategies to cure these conditions.

Indexed as

beta-ThalassemiaThalassemiaGenetic Association StudiesHemoglobinsHumansSyndromeHemoglobinsGenetic modifiersGenotype-phenotypeGlobin genesHemoglobinHemoglobin switchMolecular geneticsThalassemia

Identifiers

PMID36907603
PMCPMC10122828
OpenAlexW4323819364

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.