Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Camila Xu
 + 405 word(s) 405 2020-12-15 07:25:14

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Ghosal Hematodiaphyseal Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/3996 (accessed on 27 July 2024).
Xu C. Ghosal Hematodiaphyseal Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/3996. Accessed July 27, 2024.
Xu, Camila. "Ghosal Hematodiaphyseal Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/3996 (accessed July 27, 2024).
Xu, C. (2020, December 23). Ghosal Hematodiaphyseal Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/3996
Xu, Camila. "Ghosal Hematodiaphyseal Dysplasia." Encyclopedia. Web. 23 December, 2020.
Ghosal Hematodiaphyseal Dysplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia

Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.

genetic conditions

1. Introduction

In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.

Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia. Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue).

2. Frequency

Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have been reported in the medical literature. Most affected individuals have been from the Middle East and India.

3. Causes

Ghosal hematodiaphyseal dysplasia results from mutations in the TBXAS1 gene. This gene provides instructions for making an enzyme called thromboxane A synthase 1, which acts as part of a chemical signaling pathway involved in normal blood clotting (hemostasis). Based on its role in Ghosal hematodiaphyseal dysplasia, researchers suspect that thromboxane A synthase 1 may also be important for bone remodeling, which is a normal process in which old bone is removed and new bone is created to replace it, and for the production of red blood cells in bone marrow.

Mutations in the TBXAS1 gene severely reduce the activity of thromboxane A synthase 1. Studies suggest that a lack of this enzyme's activity may lead to abnormal bone remodeling and fibrosis of the bone marrow. However, the mechanism by which a shortage of thromboxane A synthase 1 activity leads to the particular abnormalities characteristic of Ghosal hematodiaphyseal dysplasia is unclear.

3.1. The gene associated with Ghosal hematodiaphyseal dysplasia

  • TBXAS1

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

  • diaphyseal dysplasia associated with anemia

  • GHDD

  • Ghosal hemato-diaphyseal dysplasia

  • Ghosal syndrome

  • Ghosal-type hemato-diaphyseal dysplasia

References

  1. Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C,Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L,Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V.Thromboxane synthase mutations in an increased bone density disorder (Ghosalsyndrome). Nat Genet. 2008 Mar;40(3):284-6. doi: 10.1038/ng.2007.66.
  2. Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK. Diaphyseal dysplasiaassociated with anemia. J Pediatr. 1988 Jul;113(1 Pt 1):49-57. Erratum in: JPediatr 1988 Aug;113(2):410.
  3. Gümrük F, Besim A, Altay C. Ghosal haemato-diaphyseal dysplasia: a newdisorder. Eur J Pediatr. 1993 Mar;152(3):218-21.
  4. Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, PicardC, De Vernejoul MC, Munnich A, Le Merrer M, Cormier-Daire V. A gene responsiblefor Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet.2007 Apr;121(2):269-73.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Camila Xu
View Times: 352
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Video Production Service
    Feedback