Thalassemia Causes, Symptoms, Diagnosis and Treatment

What Is Thalassemia?

Thalassemia is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin.
The abnormal hemoglobin formed results in improper oxygen transport and destruction of red blood cells.
People with thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe microcytic anemia.
Thalassemia may confer a degree of protection against malaria which is or was prevalent in the regions where the trait is common.
This selective survival advantage of carriers (known as heterozygous advantage) may be responsible for perpetuating the mutation in populations.

Causes Of Thalassemia:

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. The mutations associated with thalassemia are passed from parents to children.

There Are Two Types Of Thalassemia:

•     Alpha thalassemia
•     Beta thalassemia

Alpha thalassemia occurs most often in persons from Southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemia occurs most often in persons of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.

The Following Factors Increase The Likelihood Of Developing Thalassemia:

•     Family history of thalassemia.

Thalassemia is passed from parents to children through mutated hemoglobin genes.

•     Certain ancestry.

Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Asian and African ancestry

Symptoms Of Thalassemia:

The following symptoms are exhibited by those suffering from thalassemia:

•     Fatigue
•     Weakness
•     Pale appearance
•     Yellow discoloration of skin (jaundice)
•     Facial bone deformities
•     Slow growth
•     Abdominal swelling
•     Dark urine
•     Shortness of breath

Diagnosis Of Thalassemia:

Thalassemia may be diagnosed via:

•     Blood sample
•     Prenatal testing

    Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
    Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus

•     Assisted reproductive technology

Blood Tests May Reveal:

•     A low level of red blood cells
•     Smaller than expected red blood cells
•     Pale red blood cells
•     Red blood cells that are varied in size and shape
•     Red blood cells with uneven hemoglobin distribution, which gives the cells a bull’s-eye appearance under the microscope

Treatment Of Thalassemia:

Treatment varies depending upon the type and severity of thalassemia.

•     Treatment for mild thalassemia
      Blood transfusion
      Iron overload
      Oral medications
•     Treatment for severe thalassemia
      Stem cell transplant
      Frequent blood transfusions

By : Natural Health News