Hb I-High Wycombe [β59(E3)Lys→Glu]: The First Instance in Japan

Kazuyuki Hamaguchi; Yoichiro Kusuda; Go Yoshimichi; Rogério Eiji Hanada; K. Harano; T. Harano; Takeshi Sakata

doi:10.3109/03630260009003436

January 1, 2000Hemoglobin

Hb I-High Wycombe [β59(E3)Lys→Glu]: The First Instance in Japan

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Key Points

To document and characterize the rare hemoglobin variant Hb I-High Wycombe [β59(E3)Lys→Glu] identified in Japan.
Conducted hematological analysis and protein electrophoresis to identify the abnormal hemoglobin variant.
Performed DNA sequence analysis of the beta-globin gene to identify the specific genetic mutation.
Identified the first documented occurrence of the Hb I-High Wycombe variant in an individual in Japan.
Confirmed the beta-globin mutation corresponding to a lysine to glutamic acid substitution at codon 59 [β59(E3)Lys→Glu].

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Implication

Case report reveals the hemoglobin variant Hb I-High Wycombe in a Japanese individual, highlighting rare beta-globin mutations across diverse populations.

Abstract

(2000). Hb I-High Wycombe [β59(E3)Lys→Glu]: The First Instance in Japan. Hemoglobin: Vol. 24, No. 2, pp. 153-156.

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Hamaguchi et al. (2000) studied this question.

synapsesocial.com/papers/6a8a4d955edafe343d93108d https://doi.org/10.3109/03630260009003436

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Hb I-High Wycombe [β59(E3)Lys→Glu]: The First Instance in Japan

Key Points

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Implication

Abstract

Discussion

Cite This Study

Hb I-High Wycombe [β59(E3)Lys→Glu]: The First Instance in Japan

Key Points

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Implication

Abstract

Discussion

Cite This Study

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