Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings

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

TRANSFUSION AND APHERESIS SCIENCE, cilt.58, sa.4, ss.449-452, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.transci.2019.04.027
  • Dergi Adı: TRANSFUSION AND APHERESIS SCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.449-452
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.