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Article

Co-inheritance of Hb D-Punjab (codon 121; GAA-->CAA) and beta (0) -thalassemia (IVS-II-1;G-->A).

Journal of pediatric hematology/oncology - 1 May 1996

Adekile A D, Kazanetz E G, Leonova J Y, Marouf R, Khmis A, Huisman T H

Abstract excerpt

PURPOSE: Homozygosity for Hb D-Punjab (or Hb D-Los Angeles; codon 121; GAA-->CAA) is rare among Arabs. The co-inheritance of Hb D with beta(0)-thalassemia trait is even rarer, with only 10 previous cases reported worldwide. PATIENTS AND METHODS: We present clinical and hematological data for two...

Topics

Adult
Alleles
Child
Child, Preschool
Codon
Female
Hemoglobins, Abnormal
Homozygote
Humans
Male
Pedigree
beta-Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8846127
DOI: 10.1097/00043426-199605000-00010

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8846127-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Co-inheritance of Hb D-Punjab (codon 121; GAA-->CAA) and beta (0) -thalassemia (IVS-II-1;G-->A).PMID 8846127Read ↗

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosisSemantic proximity Read ↗

Coexistence of rare variant HbD Punjab [α2β2(121(Glu→Gln))] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India.Semantic proximity Read ↗

Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan familySemantic proximity Read ↗

Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients.Semantic proximity Read ↗

Coinheritance of Hb D-Punjab and β-thalassemia: diagnosis and implications in prenatal diagnosis.Semantic proximity Read ↗

Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family.Semantic proximity Read ↗

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Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1: C.119_121delCCA Mutation and HBA2: C.*94A > G Mutation.Semantic proximity Read ↗

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.Semantic proximity Read ↗

Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio.Semantic proximity Read ↗

β-globin gene haplotypes linked with the Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA] mutation in eastern India.Semantic proximity Read ↗

Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis.Semantic proximity Read ↗

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