Pediatric case of hemoglobin I-high Wycombe variant

Pediatric case of hemoglobin I-high Wycombe variant

Over 1400 variants of hemoglobin (Hb) have been identified and characterized with phenotypes ranging from clinically silent to severe clinical manifestations in carriers. Different analytical methods have been established to detect Hb variants. Here, we report the first pediatric case of hemoglobin...

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Veröffentlicht in:Clinica chimica acta 2025-02, Vol.567, p.120098, Article 120098
Hauptverfasser: Ibrahim, Ridwan B, Vispo, Beverly, Fasipe, Titilope, Devaraj, Sridevi
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Hb I-High Wycombe
Misdiagnosis
Stable Hb variant
Thalassemia
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creator Ibrahim, Ridwan B
Vispo, Beverly
Fasipe, Titilope
Devaraj, Sridevi
description Over 1400 variants of hemoglobin (Hb) have been identified and characterized with phenotypes ranging from clinically silent to severe clinical manifestations in carriers. Different analytical methods have been established to detect Hb variants. Here, we report the first pediatric case of hemoglobin I-High Wycombe [β59(E3) Lys → Glu] variant found in an infant of Mexican-American descent. The patient is thriving and has no clinical complication due to this hemoglobinopathy. In this case, globin chain analysis and peptide mapping by reversed phase high-performance liquid chromatography revealed the presence of hemoglobin I-High Wycombe which can easily be reported incorrectly as beta thalassemia trait.
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subjects Hb I-High Wycombe
Misdiagnosis
Stable Hb variant
Thalassemia
title Pediatric case of hemoglobin I-high Wycombe variant
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