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[Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with ß -thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1130-1132, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703143

OBJECTIVE:

To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with ß -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 ß -globin genes were also analyzed.

RESULTS:

The proband and her mother were both heterozygotes for Hb Ottawa and ß -thalassemia variant IVS II-654, and presented with typical ß -thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis.

CONCLUSION:

Co-existence of Hb Ottawa and ß -thalassemia may not aggravate the phenotype.
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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia beta Aspecto clínico: Predição / Prognóstico Limite: Feminino / Humanos Idioma: Chinês Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Assunto da revista: Genética Médica Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: China