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Article

Masking of a β-thalassemia determinant by a novel δ-globin gene defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis.

Hemoglobin - 1 Jan 2014

Colaco Stacy, Trivedi Amee, Colah Roshan B, Ghosh K, Nadkarni Anita H

Abstract excerpt

Abstract The molecular basis of β-thalassemia (β-thal) syndromes have been well documented, while the spectrum of mutations causing δ-thalassemia (δ-thal) has not been well characterized. δ-Thalassemia has no clinical symptoms but its coinheritance with heterozygous β-thal may cause misdiagnosis,...

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Source

Identifiers

PMID: 24200152
DOI: 10.3109/03630269.2013.852568

Genes

HBD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24200152-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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