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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
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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.
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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
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Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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