Areej Sikandar

INTRODUCTION:

Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.

If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly.

There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of your condition.

SYMPTOMS:

Thalassemia signs and symptoms can include:

Fatigue, Weakness, Pale or yellowish skin, Facial bone deformities, Slow growth, Abdominal swelling, Dark urine.

CAUSES:

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. In thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha-thalassemia or beta-thalassemia.

In alpha-thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. The more mutated genes, the more severe your thalassemia.  

RISK FACTORS:

Factors that increase your risk of thalassemia include:

Family history of thalassemia: Thalassemia is passed from parents to children through mutated hemoglobin genes.

Certain ancestry: Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.

COMPLICATIONS:

Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes hormone-producing glands that regulate processes throughout your body.

Infection. People with thalassemia have an increased risk of infection. This is especially true if you've had your spleen removed.

In cases of severe thalassemia, the following complications can occur.

PREVENTION:

In most cases, you can't prevent thalassemia. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you want to have children.

There is a form of assisted reproductive technology diagnosis, which screens an embryo in its early stages for genetic mutations combined with in vitro fertilization. This might help parents who have thalassemia or who are carriers of a defective hemoglobin gene have healthy babies.

The procedure involves retrieving mature eggs and fertilizing them with sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those without genetic defects are implanted into the uterus.