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.
Artigo
em Chinês
| 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
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Variação Genética
/
Talassemia alfa
/
Códon de Iniciação
/
Alfa-Globinas
/
Aconselhamento Genético
/
Genótipo
/
Anemia Hipocrômica
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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