Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (–TTCT; HBB: c.124_127delTTCT) in a Chinese Girl
Author:
Affiliation:
1. Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, People’s Republic of China
Funder
Guangxi Key Laboratory of Thalassemia Research
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2017.1321015
Reference9 articles.
1. HÆMOGLOBIN SOUTHAMPTON, β106 (G8) Leu →Pro: AN UNSTABLE VARIANT PRODUCING SEVERE HÆMOLYSIS
2. Hemoglobin casper: β 106 (G8) Leu→Pro
3. Hemoglobin southampton (Casper): Characterization of the base mutation
4. Hb Southampton [β106(G8)Leu→Pro, CTG→CCG] in an Argentinean Boy
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1. Unstable abnormal hemoglobins found in Russia in the past 10 years;Pediatric Hematology/Oncology and Immunopathology;2022-10-10
2. Diagnostic challenges posed by a rare unstable hemoglobin variant Hb Southampton [HBB: c.320T → C] with pyrimidine 5′ nucleotidase deficiency and the response to HU therapy;Blood Cells, Molecules, and Diseases;2022-09
3. Hemoglobin Southampton complicated by cerebral ischemia, moyamoya, and hydroxyurea‐induced methemoglobinemia;American Journal of Hematology;2019-06-07
4. Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln;HBB: c.442T>C)] on the β-Globin Gene;Hemoglobin;2019-01-02
5. Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant;Hemoglobin;2018-05-04
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