by Dr. Gabriel M. Freitas | 12/14/2025 | Genetic and Hereditary Diseases
Contents discussed in this post What is thalassemia Types of thalassemia: alpha and beta How thalassemia affects hemoglobin production Symptoms and clinical signs in thalassemia major and minor Diagnosis and laboratory tests Treatment: blood transfusions, iron...
by Dr. Gabriel M. Freitas | 11/04/2025 | Genetic and Hereditary Diseases
Content discussed in this post What sickle cell disease is Symptoms and how the disease presents across the lifespan Complications that require immediate attention Sickle cell trait vs sickle cell disease Diagnosis, newborn screening, and tests Day-to-day treatment...
by Dr. Gabriel M. Freitas | 10/09/2025 | Genetic and Hereditary Diseases, Neurological Diseases
Content discussed in this post What SMA is and why it matters Symptoms and signs by age group SMA types and the role of SMN2 Diagnosis and newborn screening Disease-modifying treatment Respiratory and nutritional support Physical therapy, speech-language pathology,...
by Dr. Gabriel M. Freitas | 09/30/2025 | Genetic and Hereditary Diseases, Neurological Diseases
Content covered in this post What Huntington’s disease is Symptoms: motor, cognitive, and behavioral Causes and heredity (HTT/CAG) Diagnosis and key differentials Treatment and multidisciplinary care Lifestyle and safety Research and advances Quick FAQ Health...
by Dr. Gabriel M. Freitas | 09/09/2025 | Genetic and Hereditary Diseases
Duchenne Muscular Dystrophy (DMD) is a rare and progressive genetic disorder that primarily affects boys. It is characterized by progressive muscle weakness caused by the absence or insufficient production of a protein called dystrophin, which is essential for the...
by Dr. Gabriel M. Freitas | 08/16/2025 | Genetic and Hereditary Diseases
Gaucher disease is a rare genetic condition that primarily affects the liver, spleen, and bone marrow, but it can also impact several other organs in the body. Although not widely known, it is the most common lysosomal storage disorder, caused by a mutation in a...