Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings.
Transfus Apher Sci
; 58(4): 449-452, 2019 Aug.
Article
em En
| MEDLINE
| ID: mdl-31395426
ABSTRACT
Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive inherited disorder associated with biallelic mutations in the TBXAS1 gene located on the chromosome 7q33-34, which encodes thromboxane-A-synthase. GHDD is characterized by defective hematopoiesis due to bone marrow fibrosis and metadiaphyseal dysplasia of long bones. The accurate diagnosis of this rare syndrome is critical since it reduces the need of blood transfusions by corticosteroid therapy, leading to a significant improvement in anemia and bone changes. The aim of this study is to report two adult siblings diagnosed as GHDD, who admitted with pancytopenia and treated with steroids treatment in adult hematology clinic.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Doenças Autoimunes
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Cromossomos Humanos Par 7
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Anemia Refratária
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Irmãos
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Anemia
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Mutação
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Transfus Apher Sci
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article