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Published on: April 20, 2021
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A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10-_11delinsAA] causing elevated Hb A2 level
Liang Liang1, Shuting Ning2, Xiaocai Lu3
1Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
Hematology (Amsterdam, Netherlands)
|July 6, 2022
Summary
A novel beta-globin variant, Hb Jiangnan, was identified in a Chinese family. This variant, causing elevated HbA2 levels, is detectable by HPLC but not capillary electrophoresis.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Beta-globin variants are crucial in diagnosing hemoglobinopathies like thalassemia.
- Accurate identification of novel variants is essential for genetic counseling and clinical management.
Observation:
- A 19-year-old Chinese male presented with an abnormal hemoglobin peak on HPLC analysis.
- Capillary electrophoresis (CE) showed co-elution with HbF, while HPLC successfully separated the variant from other major hemoglobin types.
Findings:
- DNA sequencing identified a novel mutation at codon 3 of the beta-globin gene, designated Hb Jiangnan.
- Hb Jiangnan can be separated using High-Performance Liquid Chromatography (HPLC) but not Capillary Electrophoresis (CE).
- This variant leads to an increased level of Hemoglobin A2 (HbA2).
Implications:
- Hb Jiangnan represents a newly discovered beta-globin variant in the Chinese population.
- The distinct separation characteristics by HPLC and CE aid in its accurate laboratory diagnosis.
- Understanding this variant's impact on HbA2 levels is vital for clinical assessment and genetic screening programs.
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