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
Dans Zh
| WPRIM
| ID: wpr-879512
Responsable en Bibliothèque :
WPRO
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
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Diagnostic prénatal
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Variation génétique
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Alpha-Thalassémie
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Codon d'initiation
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Globines alpha
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Conseil génétique
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Génotype
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Anémie hypochrome
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Mutation
Type d'étude:
Diagnostic_studies
Limites du sujet:
Female
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Humans
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Male
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Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article