A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 12-14, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879512
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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Genetic Variation
/
Alpha-Thalassemia
/
Codon, Initiator
/
Alpha-Globins
/
Genetic Counseling
/
Genotype
/
Anemia, Hypochromic
/
Mutation
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS