Evidence map›Paper›PMID 37330590›Full record

ArticleScientific reports2023

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion.

Wittaya Jomoui, Sitthichai Panyasai, Pornpun Sripornsawan, Wanicha Tepakhan

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In one paragraph

Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
4.6field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

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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

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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

18 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
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  18. Characterization of New Alpha Zero (αDiagnostics (Basel, Switzerland) · 2023
    Article
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 3 institutions in 1 country.

Wittaya Jomoui *Department of Pathology, Faculty of Medicine, Maha Chakri Sirindhorn Medical Center, Srinakharinwirot University, Nakhon Nayok, 26120, Thailand.
Sitthichai Panyasai *Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, 56000, Thailand.
Pornpun SripornsawanDepartment of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, 90110, Thailand.
Wanicha TepakhanDepartment of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, 90110, Thailand. wanicha.te@psu.ac.th.
Prince of Songkla University · THSrinakharinwirot University · THUniversity of Phayao · TH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

α-thalassemia is an inherited blood disorder that is most frequently found in Southeast Asian populations. In Thailand, molecular characterization can diagnose most patients with α-thalassemia; however, several atypical patients are also observed in routine analyses. Here, we characterized α-thalassemia mutations among 137 Hemoglobin H (Hb H) disease patients and three fetuses of Hb Bart's hydrops, a fatal clinical phenotype of α-thalassemia. Specifically, we performed multiplex ligation-dependent probe amplification (MLPA) followed by direct DNA sequencing. We noticed common genotypes in 129 patients and eight patients had rare Hb H disease caused by compound heterozygous α

Indexed as

alpha-ThalassemiaFemaleGenotypeHumansMolecular EpidemiologyMultiplex Polymerase Chain ReactionMutationPregnancyPrenatal DiagnosisSequence DeletionThailand

Identifiers

PMID37330590
PMCPMC10276873
OpenAlexW4381094750

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Registered trials

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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.