Abstract |
Abnormal hemoglobins (Hbs) are one of the most common hemoglobinopathies worldwide. Some Hb gene mutations may produce unstable, abnormal Hbs causing macrocytic hemolysis. We identified a novel, de novo deletion/frameshift mutation at nucleotide position 408 in exon 3 of the β- globin gene (HBB: c.408delT) compound with an Hb F-associated regulatory single nucleotide polymorphism (rSNP) (rs368698783) through next generation sequencing (NGS). This β- globin gene variant was identified in a 5-year-old Chinese girl with splenomegaly, jaundice and macrocytic, hemolytic anemia. This variant causes a new stop codon to be formed in the 3' untranslated region ( 3'UTR) of the HBB gene at amino acid position 158, consequently leading to a β-sheet disruption of the last α helix of this abnormal β- globin chain. We named this variant Hb Urumqi after the proband's current city of residence.
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Authors | Jiajie Pu, Li Zhang, Xiaofeng Wei, Xiangmin Xu |
Journal | Hemoglobin
(Hemoglobin)
Vol. 42
Issue 3
Pg. 184-188
(May 2018)
ISSN: 1532-432X [Electronic] England |
PMID | 30277086
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Codon, Terminator
- Hemoglobins, Abnormal
- beta-Globins
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Topics |
- Anemia, Hemolytic
(etiology, genetics)
- Asian People
- Child, Preschool
- Codon, Terminator
- Female
- Frameshift Mutation
- Genotype
- Hemoglobins, Abnormal
(genetics)
- High-Throughput Nucleotide Sequencing
- Humans
- Polymorphism, Single Nucleotide
- beta-Globins
(genetics)
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