Category: Genetic diseases

Giant platelets, also known as macrothrombocytes, are a key feature of several rare inherited bleeding disorders known as macrothrombocytopenias. The most well-known disease associated with giant platelets is Bernard-Soulier syndrome (BSS), which impairs blood clotting and can lead to excessive bleeding.

According to the National Institute of Neurological Disorders and Stroke, more than 30 different types of muscular dystrophies can cause progressive weakness and degeneration of skeletal muscles, a primary reason for shrinking limbs. This guide explores the complex question: what disease makes your limbs shrink?

According to the Cystic Fibrosis Foundation, cystic fibrosis affects approximately 30,000 people in the U.S. This chronic, progressive genetic condition is the answer to the question, **What is a life threatening disease that affects the lungs and pancreas?**

Sickle cell disease is one of several inherited blood disorders, known as hemoglobinopathies, that affect the body's hemoglobin protein. These conditions share similarities in their genetic roots and impact on red blood cells, but differ in their specific mechanisms and severity. Understanding what are the diseases like sickle cell disease provides crucial insight into a broader category of serious hematological issues.

Globally, thousands of people are affected by conditions where their blood cannot clot normally. The most widely recognized disease that does not allow your blood to clot properly is hemophilia, a rare genetic bleeding disorder where the body is deficient in specific clotting proteins.

Affecting approximately 1 in 5,000 people worldwide, Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that causes malformations of blood vessels throughout the body.