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Article

Beta 0-thalassemia due to a nonsense mutation at beta 90 (GAG----TAG) in human hemoglobin gene.

Japanese journal of medicine - 1 Jan 2000

Nomura Y, Nanjo K, Miyamura K, Harano T, Harano K, Ueda S

Abstract excerpt

We studied a patient with severe anemia and jaundice who exhibited a high hemoglobin A1 (HbA1) level secondary to an increase in HbF despite normal glucose tolerance. The red blood cells showed anisocytosis, poikilocytosis and polychromasia; target cells, Howell-Jolly bodies, Heints bodies and punctate basophilia were observed. No defect or reduction in activity was observed in 19 red cell enzymes. A family...

Topics

Adult
Base Composition
Base Sequence
Codon
Erythrocytes
Female
Globins
Hemoglobin A
Humans
Jaundice
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Thalassemia

Source

Identifiers

PMID: 2214342
DOI: 10.2169/internalmedicine1962.29.2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2214342-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Beta 0-thalassemia due to a nonsense mutation at beta 90 (GAG----TAG) in human hemoglobin gene.PMID 2214342Read ↗

Japanese beta-thalassemia [codon 90 (GAG----TAG)] has at least two origins.Semantic proximity Read ↗

A new alpha2-globin gene [codon 90 (AAG --> TAG)] nonsense mutation.Semantic proximity Read ↗

Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).Semantic proximity Read ↗

Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene.Semantic proximity Read ↗

The -87 (C----A) beta(+)-thalassemia mutation in a black family.Semantic proximity Read ↗

Two new beta-thalassemia mutations: codon 88 (CTG-->C--) and codons 83-86 (GGC/ACC/TTT/GCC-->GGCC).Semantic proximity Read ↗

Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.Semantic proximity Read ↗

A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia.Semantic proximity Read ↗

Rare form of autosomal dominant thalassemia--hemoglobin Hakkari.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 ↗

The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia.Semantic proximity Read ↗

An anemic patient with phenotypical beta-thalassemic trait has elevated level of structurally normal beta-globin mRNA in reticulocytes.Semantic proximity Read ↗

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