Thalassemias Causes and their Types

What is Thalassemias?

Thalassemias are a group of blood disorders that affect the way the body makes hemoglobin. It's made up of alpha globin and beta globin.

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 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.



Types of Alpha Thalassemia

Alpha globin is made by four genes and one or more can be mutated or missing, so there are four kinds of alpha thalassemia:

1.    One missing or abnormal gene makes a child a silent alpha thalassemia carrier. Silent alpha thalassemia carriers have no signs or symptoms of the disease, but are able to pass thalassemia on to their children.

2.    Two missing or mutated genes is a condition called alpha thalassemia minor or having alpha thalassemia trait. Children with this condition may have red blood cells that are smaller than normal (microcytosis) and sometimes very slight anemia.

People with alpha thalassemia minor usually don't have any symptoms at all, but can pass thalassemia on to their children. If two genes on the same chromosome are affected, the person can pass along a two-gene defect to his or her child. This situation is much more common in people of Asian descent.

3.    Three missing or mutated genes is called hemoglobin H disease.

4.    Four missing or mutated genes is a condition known as alpha thalassemia major or hydrops fetalis. This almost always leads to a fetus dying before delivery or a newborn baby dying shortly after birth. However if this disease is suspected because of a history in the family, it can be diagnosed by thalassemia disease specialist. Sometimes, if treatment is initiated before the baby is even born, the baby can survive.

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