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

Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype.

Hemoglobin - 1 Jan 2011

Finlayson Jill, Ghassemifar Reza, Holmes Paula, Grey Dianne, Newbound Christopher, Pell Nicole, Jennens Michelle, Macaulay Claire, Greenwood Laura, Beilby John

Abstract excerpt

We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α(3.7) deletion, a novel mutation on the α2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the α2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Globins
Share to alpha-Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acid Sequence

Share to Base Sequence

Share to Hemoglobin A2

Share to Sequence Deletion

Source

Identifiers

PMID: 21417571
DOI: 10.3109/03630269.2011.557462

Genes

HBA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype.PMID 21417571Read ↗

Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene.Semantic proximity Read ↗

α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].Semantic proximity Read ↗

α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].Semantic proximity Read ↗

delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].Semantic proximity Read ↗

New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].Semantic proximity Read ↗

A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C).Semantic proximity Read ↗

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and MicrocytosisSemantic proximity Read ↗

Nondeletional α-thalassemia (α2- IVS-1-116, A>G HBA2): an α2 gene point mutation detected in an African-American female for the first time.Semantic proximity Read ↗

The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect.Semantic proximity Read ↗

A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.Semantic proximity Read ↗

Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype.Semantic proximity Read ↗

Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser].Semantic proximity Read ↗

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