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

The Effect of HBB: c.-121C>T Variant [-71 (C>T)] on the β-Globin Promoter: Case Series Study.

Hemoglobin - 1 Jul 2021

Rafat Milad, Allamehzadeh Zeinab, Shekari Mohammad, Afsa Masoumeh, Malekzadeh Kianoosh

Abstract excerpt

One of the effective strategies in controlling thalassemia is recognition of carriers, followed by prenatal diagnosis (PND) to prevent the occurrence of new cases. There are some rare mutations and variants, for which there are not enough evidences of their effects, and can lead to misdiagnosis and even cause confusion in decision about termination of pregnancy. That is why it is very critical to know the effect...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to beta-Globins
Share to beta-Thalassemia

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

Share to Genotype

Share to Mutation

Share to Phenotype

Share to Pregnancy

Share to Promoter Regions, Genetic

Source

Identifiers

PMID: 34309469
DOI: 10.1080/03630269.2021.1955707

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

The Effect of HBB: c.-121C>T Variant [-71 (C>T)] on the β-Globin Promoter: Case Series Study.PMID 34309469Read ↗

Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population.Semantic proximity Read ↗

Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).Semantic proximity Read ↗

Report of Two Novel Thalassemia Variants, HBB: c.181delG and HBA1: c.121_126delAAGACC, in Chinese Individuals.Semantic proximity Read ↗

A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia.Semantic proximity Read ↗

A Novel Mutation in the Promoter Region of the β-Globin Gene: HBB: c.-127G > C.Semantic proximity Read ↗

A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote.Semantic proximity Read ↗

Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.Semantic proximity Read ↗

Phenotype of mutations in the promoter region of the β-globin gene.Semantic proximity Read ↗

The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background.Semantic proximity Read ↗

Clinical and hematological features of codon 17, A-T mutation of beta-thalassemia in Thai patients.Semantic proximity Read ↗

Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation.Semantic proximity Read ↗

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