Ghosal Hematodiaphyseal DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
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.
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.
St. Michael Cancer Center
Jacob Mathew, MD is a fellowship trained, board-certified hematologist/oncologist who believes we are born with essential dignity and his goal is to preserve that dignity, at times using his medical knowledge and at other times just being there for his fellow man. Dr. Mathew believes that the practice of medicine should be evidence-based while simultaneously incorporating the art of medicine. To him, the art of medicine means he needs to be the advocate for his patients. He also hopes to empower his patients to play a pivotal role in their medical care and decision making by teaching them at least the basics of their disease. Dr. Mathew is rated as an Advanced provider by MediFind in the treatment of Ghosal Hematodiaphyseal Dysplasia. His top areas of expertise are Lung Adenocarcinoma, Small Cell Lung Cancer (SCLC), Pleuropulmonary Blastoma, Osteotomy, and Bone Marrow Aspiration.
Dr. Senthil Sukumar specializes in the care of adults with non-malignant hematologic disorders. He is an Assistant Professor of Medicine - Hematology and Oncology at Baylor College of Medicine. Dr. Sukumar’s clinical interests include: benign hematology; thrombotic microangiopathy; thrombotic thrombocytopenic purpura; atypical hemolytic uremic syndrome; thrombosis; thrombocytopenia; anemias; and bleeding and clotting disorders. His research interests include: optimizing long-term care and improving outcomes of patients with thrombotic microangiopathies. Dr. Sukumar received his medical degree from University of Missouri-Kansas City School of Medicine. He completed his residency at the University of Texas Southwestern Medical Center in Dallas and a fellowship at The Ohio State University James Comprehensive Cancer Center. He also received a Master of Science degree from The Ohio State University. Dr. Sukumar is board-certified in Hematology and Internal Medicine from American Board of Internal Medicine. He is a member of the American Society of Hematology, Hemostasis and Thrombosis Research Society, and the International Society on Thrombosis and Haemostasis. Dr. Sukumar is rated as an Advanced provider by MediFind in the treatment of Ghosal Hematodiaphyseal Dysplasia. His top areas of expertise are Thrombocytopenia, Ghosal Hematodiaphyseal Dysplasia, Blood Clots, Anemia, and Splenectomy.
Abramson Cancer Center Perelman 4th Floor West
Daria Babushok is a Hematologist in Philadelphia, Pennsylvania. Dr. Babushok is rated as an Advanced provider by MediFind in the treatment of Ghosal Hematodiaphyseal Dysplasia. Her top areas of expertise are Aplastic Anemia, Paroxysmal Nocturnal Hemoglobinuria (PNH), Acquired Amegakaryocytic Thrombocytopenia, Bone Marrow Aspiration, and Bone Marrow Transplant. Dr. Babushok is currently accepting new patients.
Published Date: March 01, 2014
Published By: National Institutes of Health