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Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals
- Source :
- Hemoglobin. 42(2)
- Publication Year :
- 2018
-
Abstract
- We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A2 variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.221A>T] and we have named this variant Hb A2-Henan. The other is a nonsense mutation [δ7(A4)Glu→Stop, HBD: c.22G>T] which gives rise to a stop codon (TAG) at codon 7, resulting in δ0-thalassemia (δ0-thal). The Hb A2 in one individual with homozygous HBD: c.22G>T was absent.
- Subjects :
- Hemoglobins, Abnormal
Clinical Biochemistry
Nonsense mutation
Mutation, Missense
Gene mutation
Biology
03 medical and health sciences
0302 clinical medicine
Asian People
hemic and lymphatic diseases
Homologous chromosome
Missense mutation
Humans
Family
Globin gene
Hemoglobin A2
Gene
Genetics (clinical)
Genetics
delta-Globins
Biochemistry (medical)
Hematology
Stop codon
Thalassemia screening
Codon, Nonsense
030220 oncology & carcinogenesis
delta-Thalassemia
Mutation
030215 immunology
Subjects
Details
- ISSN :
- 1532432X
- Volume :
- 42
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Hemoglobin
- Accession number :
- edsair.doi.dedup.....a1a9d9433d314d8984e6e0b62c6316e3