Beta Thalassemia Intermedia: Bridging the Genetic Gap
Moderate anemia sets this form apart from thalassemia major and minor. HBB variants such as c.-78A>G help predict severity and guide transfusion plans.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Understanding Beta-Thalassemia Major: A Genetic Perspective
Excess alpha-globin chains from HBB mutations drive ineffective erythropoiesis and hemolytic anemia. Testing supports carrier screening and chelation monitoring.
Bridging the Gap: Understanding Blepharophimosis - Intellectual Disability Syndrome Through Genetic Testing
Explore the impact of genetic testing on diagnosing BPIDS. Learn how it aids in accurate diagnosis, early intervention, and guides family planning effectively.
Breaking Down Bruck Syndrome: A Genetic Perspective
Bone fragility with joint contractures defines Bruck syndrome, and a compound heterozygous FKBP10 variant has widened the picture, supporting earlier diagnosis and care.
Caudal Regression Sequence: Genetic Testing's Role in Diagnosis and Management
Abnormal development of the lower spine can affect the limbs, genitourinary tract and gut; testing helps separate this sequence from Wieacker-Wolff syndrome.
Choroid Plexus Carcinoma: Charting New Frontiers with Genetic Testing
Arising in the tissue that produces cerebrospinal fluid, choroid plexus carcinoma affects mainly children; a TP53 mutation was found in affected siblings.
Citrin Deficiency: Unraveling the Genetic Threads of a Mitochondrial Mystery
Loss of the citrin protein encoded by SLC25A13 disrupts the urea cycle and liver metabolism, with growth retardation, fatigue and episodes of hyperammonemia.
Citrullinemia Type II: Navigating the Genetic Pathways to Diagnosis and Management
Adults with CTLN2 may have confusion, lethargy or severe hypertriglyceridemia; SLC25A13 testing confirms this autosomal recessive urea cycle disorder.