E-mail ID : info@iamg.in
 
 
 
 

Online Submission
Click Here For Online Submission
Instructions for authors

Genetic Clinics
Editorial board

Get Our Newsletter
Subscribe

Send Your Feedback
Feedback Form

About Us
IAMG

Abstract

October to December 2020 | Vol. 13 | Issue 4 | 03-06
Ghosal Hematodiaphyseal Dysplasia: An Unusual but Easy-to-Diagnose Genetic Cause of Anemia
Amrita Bhattacherjee1, Ashwin B Dalal1, Prajnya Ranganath1,2,*
1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India, 2Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India
Address for Correspondence Email: prajnyaranganath@gmail.com
 
Abstract
Ghosal hematodiaphyseal dysplasia (GHDD) also known as Ghosal syndrome (OMIM# 231095) is a rare autosomal recessive disorder associated with skeletal changes in the form of increased bone density and predominant diaphyseal involvement, and hypoplastic anemia (Ghosal et al., 1988). It is caused by biallelic variants in the TBXAS1 (OMIM*274180) gene. As the hematological abnormalities respond to corticosteroid therapy, early and accurate diagnosis helps in effective control of the disease course. We report here a 12 years-old male patient from a consanguineous family referred for evaluation of chronic anemia, whose clinical and radiographic findings were suggestive of the diagnosis of GHDD and molecular genetic testing revealed a homozygous nonsynonymous known variant in the TBXAS1 gene.
 
HTML Full Text  Download PDF