Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.

Jamwal, Manu; Aggarwal, Anu; Sharma, Prashant; Bansal, Deepak; Trehan, Amita; Sachdeva, Man Updesh Singh; Naseem, Shano; Maitra, Arindam; Das, Reena

Jamwal, Manu; Aggarwal, Anu; Sharma, Prashant; Bansal, Deepak; Trehan, Amita; Sachdeva, Man Updesh Singh; Naseem, Shano; Maitra, Arindam; Das, Reena.

Afiliação

Jamwal M; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Aggarwal A; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Sharma P; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Bansal D; Department of Pediatrics (Hematology-Oncology Unit), Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Trehan A; Department of Pediatrics (Hematology-Oncology Unit), Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Sachdeva MUS; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Naseem S; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Maitra A; National Institute of Biomedical Genomics, Kalyani, West Bengal, India.
Das R; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Pediatr Blood Cancer ; 68(10): e29181, 2021 10.

Article em En | MEDLINE | ID: mdl-34117698

Assuntos

Anemia Diseritropoética Congênita; Anemia Hemolítica Congênita; Eliptocitose Hereditária; Aconselhamento Genético; Anemia Diseritropoética Congênita/diagnóstico; Anemia Diseritropoética Congênita/genética; Humanos; Espectrina/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Eliptocitose Hereditária / Aconselhamento Genético / Anemia Diseritropoética Congênita / Anemia Hemolítica Congênita Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Índia

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