Associated Papers
Hemoglobin Southampton (Casper) inclusions resembling intracellular parasites.
Nusapan R et al.
Blood, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
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.
Gorivale M et al.
Blood Cells, Molecules & Diseases, 2022
Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.
Aldakeel SA et al.
Archives of Medical Science : Ams, 2020
Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene.
Su Q et al.
Hemoglobin, 2019
Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant.
Hsu CH et al.
Hemoglobin, 2018
Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (-TTCT; HBB: c.124_127delTTCT) in a Chinese Girl.
Liu J et al.
Hemoglobin, 2017
[Severe hemolytic anemia due to hemoglobin Southampton: case report].
Avalos Gómez V et al.
Archivos Argentinos De Pediatria, 2012
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
Jiang C et al.
Human Molecular Genetics, 1997
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