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Steroid-responsive anemia with bony dysplasias: What lurks behind!
J Trop Pediatr
August 2024
Pediatric Hematology-Oncology, B.J. Wadia Hospital, Mumbai, 400012, India.
Article Synopsis
- Ghosal hematodiaphyseal dysplasia (GHDD) is a rare genetic disorder affecting bone development, characterized by issues like diaphyseal dysplasia of long bones and anemia that responds to steroids, caused by mutations in the TBXAS1 gene.
- Two cases are presented: a 3-year-old boy with pallor and ecchymosis diagnosed with GHDD due to bicytopenia and bone marrow fibrosis, and a 20-month-old girl with symptoms including bloody stools and anemia, confirmed through genetic testing.
- Early diagnosis and treatment with steroids can significantly improve patient outcomes, reducing transfusion needs and preventing further bone damage, which contributes to better growth
Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.
Radiol Case Rep
October 2024
Hospital Medicine Division, Cheshire Medical Center/Dartmouth Hitchcock Keene, NH, USA.
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present a rare case of a middle-aged woman who presented with chronic anemia and bone pain.
View Article and Find Full Text PDFCase report: Ghosal hematodiaphyseal dysplasia-A rare cause of skeletal dysplasia and cytopenia.
Int J Rheum Dis
June 2024
Department of Radiology, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.
Haematologica
August 2024
Department of Hematology and Bone Marrow Transplantation, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; French Reference Center for Aplastic Anemia, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris.
Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.
Gene
February 2024
Pediatric Haematology Oncology Unit, Chandigarh, India. Electronic address:
The study highlights genomic findings in a series of 13 IRIDA phenotype cases. All had microcytic hypochromic anemia with suboptimal oral iron response to two different oral iron preparations at 4-6 weeks and low-normal ferritin, low transferrin saturation, and inappropriately high hepcidin. Targeted NGS on a 26-gene iron panel revealed pathogenic TMPRSS6 variants in 5/13 (38 %) cases.
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