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A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10-_11delinsAA] causing elevated Hb A2 level.

Hematology (Amsterdam, Netherlands) - 1 Dec 2022

Liang Liang, Ning Shuting, Lu Xiaocai, Li Yingwei, Tian Mao, Qin Ting, Li Youqiong

Abstract excerpt

OBJECTIVES: To report the hematolgocial and molecular features of a nove β-globin variant in a Chinese fimaly. METHODS: The proband was a 19-year-old Chinese man whose Hb analysis by HPLC for thalassemia revealed an abnormal peak. Hb analysis was performed by HPLC and CE. Gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB) were used to detect the common mutations in Chinese population. DNA sequencing was...

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PMID: 35793787
DOI: 10.1080/16078454.2022.2095692

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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