Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β -thalassemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1130-1132, 2019.
Article
em Zh
| WPRIM
| ID: wpr-776729
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with β -thalassemia.@*METHODS@#Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α - and β -globin genes were also analyzed.@*RESULTS@#The proband and her mother were both heterozygotes for Hb Ottawa and β -thalassemia variant IVS II-654, and presented with typical β -thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis.@*CONCLUSION@#Co-existence of Hb Ottawa and β -thalassemia may not aggravate the phenotype.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Hemoglobinas Anormais
/
Testes Genéticos
/
Talassemia beta
/
Alfa-Globinas
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Globinas beta
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Genética
/
Heterozigoto
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article