De novo HBB frameshift mutation in a patient with dominant β-thalassemia major
Int J Lab Hematol
.
2022 Feb;44(1):e21-e25.
doi: 10.1111/ijlh.13669.
Epub 2021 Jul 29.
Authors
Xiaoman Zhou
1
,
Tongtong Chen
1
,
Qianqian Zhang
1
,
Ming Qi
2
,
Li Zhang
3
,
Juping Du
3
,
Hongbo Chi
3
,
Bo Shen
3
,
Xiangmin Xu
1
,
Yang Lu
3
4
Affiliations
1
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
2
Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.
3
Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
4
Taizhou Enze Medical Center (Group), Enze Hospital, Taizhou, China.
PMID:
34323379
DOI:
10.1111/ijlh.13669
No abstract available
Keywords:
dominant mutation; elongated β-chain; frameshift mutation; β-thalassemia.
Publication types
Case Reports
Letter
MeSH terms
Child, Preschool
Frameshift Mutation*
Hemoglobins, Abnormal / genetics*
Humans
Male
beta-Thalassemia / genetics*
Substances
Hemoglobins, Abnormal
Grants and funding
2018YFA0507800/National Key Research and Development Program of China
2018YFA0507803/National Key Research and Development Program of China
U20A20353/Natural Science Foundation of China