Hb Lepore-Hong Kong: First Report of a Novel δ/β-Globin Gene Fusion in a Chinese Family

We describe a new δ/β fusion gene causing β-thalassemia (β-thal) trait and its formation mechanism. The proband was a 39-year-old woman who presented with persistent microcytic microcytosis without iron deficiency. Molecular diagnoses revealed a δβ configuration within a 54 bp region between the Cap...

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Bibliographic Details
Published in:Hemoglobin 2021-07, Vol.45 (4), p.220-224
Main Authors: Jiang, Fan, Tang, Xue-Wei, Li, Jian, Zhou, Jian-Ying, Zuo, Lian-Dong, Li, Dong-Zhi
Format: Article
Language:English
Subjects:
Adult
Asians
beta-Globins - genetics
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
China
Female
Fusion gene
Gene Fusion
Hb Lepore-Hong Kong
Hemoglobins, Abnormal - genetics
Humans
β-thalassemia (β-thal)
δβ configuration
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Summary:We describe a new δ/β fusion gene causing β-thalassemia (β-thal) trait and its formation mechanism. The proband was a 39-year-old woman who presented with persistent microcytic microcytosis without iron deficiency. Molecular diagnoses revealed a δβ configuration within a 54 bp region between the Cap site (+22) and codon 8, causing a deletion (NG_000007.3: g.63154_70565del). This results in a variant that has been named Hb Lepore-Hong Kong and shows a decreased β-globin mRNA in carriers compared to that of normal subjects. It is assumed that combination of this variant with β-thal may cause severe β-thal syndrome.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2021.1956945