Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings

Transfus Apher Sci. 2019 Aug;58(4):449-452. doi: 10.1016/j.transci.2019.04.027. Epub 2019 Jul 22.

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.

Keywords: Anemia; Ghosal syndrome; Hematodiaphyseal dysplasia; Steroid responsive.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia* / diagnostic imaging
  • Anemia* / drug therapy
  • Anemia* / genetics
  • Anemia, Refractory* / diagnostic imaging
  • Anemia, Refractory* / drug therapy
  • Anemia, Refractory* / genetics
  • Autoimmune Diseases* / diagnostic imaging
  • Autoimmune Diseases* / drug therapy
  • Autoimmune Diseases* / genetics
  • Chromosomes, Human, Pair 7 / genetics*
  • Humans
  • Male
  • Mutation*
  • Osteochondrodysplasias* / diagnostic imaging
  • Osteochondrodysplasias* / drug therapy
  • Osteochondrodysplasias* / genetics
  • Siblings*

Supplementary concepts

  • Ghosal Hematodiaphyseal Dysplasia