A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene.
10.3760/cma.j.cn511374-20191114-00581
- Author:
Yang CHEN
1
;
Jie WANG
;
Chan WANG
;
Shiping CHEN
;
Nyu FENG
;
Haifang LIU
;
Xiaoyan TANG
;
Shufang ZHANG
Author Information
1. Central Laboratory, the Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Haikou, Hainan 570208, China. haikouyiyuan@126.com.
- Publication Type:Journal Article
- MeSH:
Anemia, Hypochromic/genetics*;
Codon, Initiator/genetics*;
Female;
Genetic Counseling;
Genetic Variation;
Genotype;
Humans;
Male;
Mutation;
Pregnancy;
Prenatal Diagnosis;
alpha-Globins/genetics*;
alpha-Thalassemia/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(1):12-14
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.
METHODS:Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.
RESULTS:Gap-PCR and NGS showed that the proband has carried a αα/-α
CONCLUSION:Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α
