Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family
Author:
Affiliation:
1. Deenanath Mangeshkar Hospital and Research Centre, Erandawane, Pune, Maharashtra, India;
2. Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, Telangana, India
Publisher
Informa UK Limited
Subject
Biochemistry, medical,Clinical Biochemistry,Genetics(clinical),Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1450754
Reference6 articles.
1. Hb altdorf α2β2135 (H13) Ala → Pro: A new electrophoretically silent unstable haemoglobin variant from switzerland
2. Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin
3. Hb Alperton [β135(H13)Ala→Val] Shows Decreased Oxygen Affinity
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review;International Journal of Laboratory Hematology;2024-03-19
2. Corrigendum;Hemoglobin;2018-03-04
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