What is Thalassemia?

Thalassemia is a blood disorder that causes the body to produce less hemoglobin — the protein that helps your red blood cells carry oxygen through the body. If your hemoglobin levels are low, you may develop anemia. What causes thalassemia? It is an inherited disorder — one that comes from a defective gene in both parents. There are two genes that produce beta-globin and four genes that produce hemoglobin. A malfunction in these genes can lead to thalassemia. There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Beta is the most common form of the disease, and … Continue reading →

What is Phenylketonuria?

If you read the labels on your foods… and you’re a diet soda drinker (like I am), you may have noticed a little warning: PHENYLKETONURICS: CONTAINS PHENYLALANINE. I always figured it was some sort of food allergy, mainly because the warning comes in the same place I usually see warnings about wheat, milk, egg, soy, and tree nut warnings. Phenylketonuria (also called PKU) is an inherited disorder where a person can’t process one of the amino acids found in many foods: phenylalanine or “phe”. Because the body can’t process phe, it builds up in the body. In infants and children, … Continue reading →

The Three Most Common Types of Bleeding Disorder

Bleeding disorders interfere with the body’s clotting ability, and lead to prolonged bleeding after an injury. Under normal circumstances, when the body is injured, the platelets in blood gather around the wound. Proteins in the plasma (known as blood clotting factors) work with platelets and other substances to form a clot over the wound — the blood turns from liquid to solid. In a person with a bleeding disorder, those clotting factors may be missing — or may not work they way they should. The most common bleeding disorder is hemophilia A — also known as factor VIII deficiency or … Continue reading →

What are Bleeding Disorders?

Blood clotting (also known as coagulation) is how the body controls bleeding — it changes blood from a liquid to a solid. Proteins in the blood work together to stop bleeding. But if a person is missing or lacking in certain proteins, they may have a bleeding disorder. The term “bleeding disorder” covers a wide range of problems that all have one result: poor clotting and prolonged bleeding. Your doctor may refer to a bleeding disorder as coagulopathy, abnormal bleeding, or clotting disorder. Other things can cause bleeding disorders besides clotting protein deficiency: Defects in the blood vessels Abnormalities in … Continue reading →

Health: Dwarfism (Achondroplasia)

When an adult person stands only 4’10” or less, they are referred to as a dwarf. The medical term for a dwarf is achondroplasia. Most dwarfs, however, are generally 2’8” to 4’8” tall. The cause of dwarfism is usually related to genetics, although some types are of unknown origin. The typical occurrence of dwarfism is due to a random mutation from either the egg or the sperm. Their parents are usually normal in size. Their children have received one mutated copy of the gene that causes dwarfism and a normal copy of the gene. A dwarf, therefore, has a fifty … Continue reading →

What Is Muscular Dystrophy?

There are several different types of muscular dystrophy, diseases characterized by progressive muscle weakness and wasting. Emery-Dreifuss muscular dystrophy chiefly affects the muscles used in movement (skeletal muscles) and the heart muscle. The earliest symptoms are joint deformities called contractures that restrict the movement of the elbows, ankles, and neck. Affected individuals also experience muscle weakness and wasting that progresses slowly from the upper arms and lower legs and moving into the shoulders and hips. By adulthood, most people with Emery-Dreifuss muscular dystrophy have heart problems. These come from abnormal heart rhythms and defects with the electrical signals that control … Continue reading →

What Is Sickle Cell Disease?

Sickle cell disease (also known as hemoglobin S disease) is a group of disorders that affect hemoglobin — the part of a red blood cell that delivers oxygen throughout the body. The disease gets its name from abnormally shaped red blood cells caused by abnormal hemoglobin molecules. Symptoms of sickle cell disease usually begin in early childhood, and can include: Low red blood cell count, also known as anemia. Repeated infections. Periodic episodes of pain. Intensity of symptoms varies from one person to another. Some people have very mild symptoms; others may be hospitalized for serious complications from pain and … Continue reading →

What Is Cystic Fibrosis?

Cystic fibrosis (CF) is a progressive disorder that affects many systems throughout your body, namely the respiratory system and the digestive system. This is an inherited disease of the mucus glands. You know what mucus is, right? That slippery stuff that lubricates (and protects) your airways, digestive system, reproductive system, and other organs and tissues. For people with cystic fibrosis, the mucus the body produces is extra thick and sticky. It can obstruct airways, causing serious breathing problems and potential for bacterial infections in the lungs. The infections cause coughing, wheezing, and inflammation; the infections and the mucus buildup can … Continue reading →

DNA is Hot Business but is there Genetic Privacy?

A recent article in the New England Journal of Medicine discusses the future issue of “genetic privacy”. As science progresses and the human genome has already been sequenced, we are facing an increasing possibility of treating genetic disorders or heritable diseases through gene therapy. The “who am I” question has plagued philosophers and common people for centuries, soon enough we will be able to know exactly who we are: summarized in approximately 24847 genes! There are growing possibilities of testing for specific “disease genes”, based on which we can adjust our lifestyles. There are even possibilities of testing us for … Continue reading →