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Article

Homozygous Hb Stanleyville-II [alpha2 78(EF7) Asn>Lys; HBA2:c.237C>A, not C>G] associated with genotype -α 3.7/-α 3.7 in two Brazilian families.

International journal of laboratory hematology - 1 Dec 2011

Pimentel F S, Silva M R, Ferraz M H C, Carvalho N O, Perone C, del Castillo D Méndez, Januario J N, Viana M B

Abstract excerpt

INTRODUCTION: Several hemoglobin variants have electrophoretic behavior similar to hemoglobin S, which may lead to false diagnosis for sickle-cell disorders in newborn screening programs. A homozygous hemoglobin with S mobility was detected in two unrelated babies in Brazil. METHODS: Isoelectric focusing and high-performance liquid chromatography assays, gene sequencing, and restriction fragment length...

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Source

Identifiers

PMID: 21470372
DOI: 10.1111/j.1751-553X.2011.01321.x

Genes

HBA2

Variants

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.

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