Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings

Ciftciler R., BÜYÜKAŞIK Y., Saglam E. A. , HAZNEDAROĞLU İ. C.

TRANSFUSION AND APHERESIS SCIENCE, vol.58, no.4, pp.449-452, 2019 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.1016/j.transci.2019.04.027
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.449-452


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.