Bloom SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for several processes in the cell nucleus, including copying (replicating) DNA in preparation for cell division and repairing damaged DNA. Because RecQ helicases help maintain the structure and integrity of DNA, they are known as the "caretakers of the genome."
Bloom syndrome is a rare disorder. Only a few hundred affected individuals have been described in the medical literature, about one-third of whom are of Central and Eastern European (Ashkenazi) Jewish background.
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.
Forefront Dermatology SC
Kelli Hutchens is a Dermatologist practicing medicine in Manitowoc, Wisconsin. Dr. Hutchens is rated as an Experienced provider by MediFind in the treatment of Bloom Syndrome. She is also highly rated in 55 other conditions, according to our data. Her clinical expertise encompasses Melanoma, Neurocutaneous Melanosis, Seborrheic Keratosis, and Molluscum Contagiosum. Dr. Hutchens is currently accepting new patients.
Duke University Hospital
Louis Diehl is a Hematologist Oncology specialist and a Hematologist practicing medicine in Durham, North Carolina. Dr. Diehl is rated as an Experienced provider by MediFind in the treatment of Bloom Syndrome. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Diffuse Large B-Cell Lymphoma (DLBCL), Acute Myeloid Leukemia (AML), B-Cell Lymphoma, Non-Hodgkin Lymphoma, and Bone Marrow Aspiration. Dr. Diehl is board certified in American Board Of Internal Med, Internal Medicine , American Board Of Internal Med, Hematology/Oncology , and American Board Of Internal Med, Medical Oncology. Dr. Diehl is currently accepting new patients.
Prisma Health Deep Vein Thrombosis Clinic
Jay Walls is an Oncologist and a Hematologist Oncology provider practicing medicine in Greenville, South Carolina. Dr. Walls is rated as an Experienced provider by MediFind in the treatment of Bloom Syndrome. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Essential Thrombocythemia, Childhood Iron Deficiency Anemia, Sickle Cell Disease, Hemoglobin SC Disease, and Bone Marrow Aspiration. Dr. Walls is board certified in American Board Of Internal Medicine. Dr. Walls is currently accepting new patients.
Published Date: April 01, 2015
Published By: National Institutes of Health