Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of double heterozygous -α 4.2Ⅰ /-α 4.2Ⅱ using third-generation sequencing

24 Aug 2023

Abstract excerpt

Objective The 4.2 kb deletion (-α4.2/) is a common a+-thalassemia with a carrier rate, followed by the South-East Asian deletion (–SEA) and the 3.7 kb deletion (-α3.7/). There are few reports about 4.2 kb deletion sub-types. Herein, we present a patient with double heterozygous -α4.2Ⅰ/-α4.2Ⅱwho was identified using third-generation sequencing (TGS).Methods Hematology and hemoglobin fraction analysis were carried...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood groups and transfusion
Share to Hemoglobinopathies and Related Disorders
Share to Iron Metabolism and Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37615562
DOI: 10.1080/16078454.2023.2250646

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of double heterozygous -α 4.2Ⅰ /-α 4.2Ⅱ using third-generation sequencingPMID 37615562Read ↗

Molecular spectrum of Hb H disease and characterization of rare deletional α-thalassemia found in ThailandSemantic proximity Read ↗

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

Case report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis.Semantic proximity Read ↗

Hb Q-Thailand heterozygosity unlinked with the (-α4.2/) α+-thalassemia deletion allele identified by long-read SMRT sequencing: hematological and molecular analyses.Semantic proximity Read ↗

Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?Semantic proximity Read ↗

Analysis of rare thalassemia genetic variants based on third-generation sequencing.Semantic proximity Read ↗

Molecular characteristics of α+-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnosticsSemantic proximity Read ↗

First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing.Semantic proximity Read ↗

Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.Semantic proximity Read ↗

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.Semantic proximity Read ↗

A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation.Semantic proximity Read ↗

Analysis of Rare Thalassemia Genetic Variants Based on Third Generation SequencingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.