Thalassemia

Thalassemia ( Alpha-thalassemia, Beta-thalassemia, Cooley’s anemia, Mediterranean anemia, Hemolytic anemia, Sickle cell disease) is an inherited disordering in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carry oxygen. The low hemoglobin and fewer RBCs of thalassemia may cause anemia leaving you fatigued.
Thalassemia is caused by mutations in the DNA of the cells that make hemoglobin. Hemoglobin is made of two proteins, alpha globin and beta globin. There are two main types of thalassemia:
Alpha Thalassemia: occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). It occurs in persons from southeast Asia, the middle East, China and those of African descent.
Beta thalassemia: occurs when similar gene defects affect production of the beta globin protein. It occurs in persons of Mediterranean origin and to lesser extent Chinese, Asians and African Americans.
Both alpha and beta thalassemia include two forms:
Thalassemia major: You must inherit the defective gene from both parents.
Thalassemia minor: It occurs if you receive the defective gene from only one parent. Persons with this form are carriers and usually have no symptoms.
Signs and symptoms of thalassemia include:
Fatigue
Weakness
Shortness of breath
Pale skin
Irritability
Facial bone deformities
Slow growth
Abdominal swelling
Dark urine
Most children with moderate to severe thalassemia show sign and symptoms within their first two years of life. A blood test can confirm a diagnosis and may reveal:
Smaller RBCs
Pale RBCs
RBCs that vary in size and shape
RBCs with bull’s-eye appearance under a microscope
Measure amount of Iron in blood
A DNA analysis to diagnose the disease and determine if a person is a carrier
Treatment for thalassemia depends on which type you have and how severe it is.
Mild thalassemia: Little, if any, treatment is needed. Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications.
Moderate to Severe thalassemia: Blood transfusions every few weeks may be required and medication to get rid of extra iron build up in the blood which can damage the heart. Also a bone marrow transplant may be used in severe selected cases.
Possible complications of thalassemia include:
Iron overload
Increase risk for infections
Bone deformities
Enlarged spleen (splenomegaly)
Slowed growth rates
Heart problems
In most cases, thalassemia can’t be prevented. However, prenatal testing before the baby is born can diagnose and determine how severe it is.