A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma.
Transfus Apher Sci
; 59(1): 102562, 2020 Feb.
Article
em En
| MEDLINE
| ID: mdl-31230948
ABSTRACT
Splenic hematoma is an exceptionally rare event in newborn period that usually occurs in concomitant birth trauma and bleeding disorder. This report presents a newborn case with severe hemophilia A, who had a splenic hematoma presented on the second day of life with severe anemia, abdominal distention, abdominal and scrotal ecchymosis. The patient was successfully treated medically with factor VIII concentrates without splenectomy. Molecular analysis of the factor VIII gene revealed a hemizygous deletion in exon 13.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ruptura Esplênica
/
Fator VIII
/
Éxons
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Deleção de Sequência
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Hematoma
Limite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
Transfus Apher Sci
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2020
Tipo de documento:
Article