Thalassemias

Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin, a protein found in red blood cells that is responsible for carrying oxygen throughout the body.

The body contains more red blood cells than any other type of cell, and each has a life span of about 4 months. Each day, the body produces new red blood cells to replace those that die or are lost from the body.

With a thalassemia, the red blood cells are destroyed at a faster rate, leading to anemia, a condition that can cause fatigue and other complications.

Thalassemias are inherited conditions — they're carried in the genes and passed on from parents to children. People who are carriers of a thalassemia gene show no thalassemia symptoms and might not know they're carriers. If both parents are carriers, they can pass the disease to their kids. Thalassemias are not contagious.

While there are many different types of thalassemias, the main two are:
Alpha thalassemia: when the body has a problem producing alpha globin
Beta thalassemia: when the body has a problem producing beta globin

When the gene that controls the production of either of these proteins is missing or mutated, it results in that type of thalassemia.
About Alpha Thalassemia

Alpha thalassemia occurs when the gene that controls the making of alpha globins is absent or defective. It can be mild to severe and is most commonly found in people of African, Middle Eastern, Chinese, Southeast Asian, and, occasionally, Mediterranean descent.

Some children with alpha thalassemia have no symptoms and may require no treatment. Others with more severe cases need regular blood transfusions to treat anemia and other symptoms.

A child can only get alpha thalassemia by inheriting it from his or her parents. Genes are "building blocks" that play an important role in determining physical traits and many other things about us.

Humans are made up of trillions of cells that form the structure of our bodies and carry out specialized jobs like taking nutrients from food and turning them into energy. Red blood cells, which contain hemoglobin, deliver oxygen to all parts of the body.

All cells have a nucleus at their center, which is kind of like the brain or "command post" of the cell. The nucleus directs the cell, telling it to grow, mature, divide, or die. The nucleus contains DNA (deoxyribonucleic acid), a long, spiral-shaped molecule that stores the genes that determine hair color, eye color, whether or not a person is right- or left-handed, and many more traits. DNA, along with genes and the information they contain, is passed down from parents to their children during reproduction.

Each cell has many DNA molecules, but because cells are very small and DNA molecules are long, the DNA is packaged very tightly in each cell. These packages of DNA are called chromosomes, and each cell has 46 of them. Each package is arranged into 23 pairs — with one of each pair coming from the mother and one from the father. When a child has alpha thalassemia, there is a mutation in chromosome 16.

Alpha globin is made on chromosome 16. So, if any gene that tells chromosome 16 to produce alpha globin is missing or mutated, less alpha globin is made. This affects hemoglobin and decreases the ability of red blood cells to transport oxygen around the body.