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.
Bassett Medical Center
. Dr. Lacava is rated as an Experienced provider by MediFind in the treatment of Bloom Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Diabetic Nephropathy, Muscle Invasive Bladder Cancer, Dementia, Endoscopy, and Hip Replacement.
Dana-Farber Cancer Institute
Daniel Deangelo is an Oncologist practicing medicine in Boston, Massachusetts. Dr. Deangelo is rated as a Distinguished provider by MediFind in the treatment of Bloom Syndrome. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Systemic Mastocytosis, Acute Myeloid Leukemia (AML), Leukemia, Bone Marrow Aspiration, and Bone Marrow Transplant.
Domino's Farms
Dr. Akin completed his residency in Internal Medicine and PhD at the University of Louisville, and his Allergy/Immunology fellowship at the NIH Clinical Center, where he also worked as a staff physician and researcher. He was then an Assistant Professor at the University of Michigan and an Associate Professor at Harvard Medical School, where he established and lead the Mastocytosis Center at the Brigham and Women's Hospital in Boston. He is internationally recognized for his work on mast cell disorders and anaphylaxis and is an active member of the AAAAI. Dr. Akin is rated as a Distinguished provider by MediFind in the treatment of Bloom Syndrome. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Systemic Mastocytosis, Mast Cell Activation Syndrome (MCAS), Anaphylaxis, Urticaria Pigmentosa, and Tissue Biopsy.
Published Date: April 01, 2015
Published By: National Institutes of Health