Evidence map›Paper›PMID 39286901›Full record

ArticleDiagnosis (Berlin, Germany)2025

Prenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.

Kritsada Singha, Supawadee Yamsri, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen

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Article in Diagnosis (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Kritsada SinghaCentre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Supawadee YamsriCentre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Kanokwan SanchaisuriyaCentre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Goonnapa FucharoenCentre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Supan FucharoenCentre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.

methodsHematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.

resultsBoth parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common α-thalassemia mutations in Thailand identified α

conclusionsAs shown in this study, routine screening for α-thalassemia at prenatal diagnosis in the region should include both common and rare α

Indexed as

alpha-ThalassemiaDiagnostic ErrorsHemoglobins, AbnormalHydrops FetalisPrenatal DiagnosisAdultFemaleHumansMaleMutationPedigreePregnancyThailandhemoglobin Bart'sHemoglobins, AbnormalHb Bart’s hydrops fetalishemoglobin H diseaseα0-thalassemiaα+-thalassemia

Identifiers

PMID39286901

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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.