Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant.

Jamwal, Manu; Aggarwal, Anu; Sharma, Prashant; Bansal, Deepak; Das, Reena

Jamwal, Manu; Aggarwal, Anu; Sharma, Prashant; Bansal, Deepak; Das, Reena.

Afiliação

Jamwal M; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Aggarwal A; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Sharma P; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Bansal D; Hematology-Oncology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Das R; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India. reenadaspgi@hotmail.com.

Ann Hematol ; 100(1): 281-283, 2021 Jan.

Article em En | MEDLINE | ID: mdl-32221653

Assuntos

Anemia Diseritropoética Congênita/genética; Hemoglobina Fetal/metabolismo; Fatores de Transcrição Kruppel-Like/genética; Anemia Diseritropoética Congênita/sangue; Anemia Diseritropoética Congênita/fisiopatologia; Povo Asiático; Heterozigoto; Humanos; Lactente; Masculino; Mutação de Sentido Incorreto

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemoglobina Fetal / Fatores de Transcrição Kruppel-Like / Anemia Diseritropoética Congênita Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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