Beta thalassemia is an inherited blood disorder affecting hemoglobin. Hemoglobin is a protein in red blood cells that allow the cells to carry oxygen throughout the body. Lower levels of hemoglobin are produced because of defective genes resulting in fatigue and other complications.
Types of Beta Thalassemia
Beta thalassemia has two main types: thalassemia major, also known as Cooley’s anemia, and thalassemia minor, also known as thalassemia trait. Beta thalassemia major is caused by inheriting a defective gene from both parents, while beta thalassemia minor is caused by inheriting the defective gene from only one parent.
Risk Factors for Beta Thalassemia
Beta thalassemia can be inherited if both or one parent carries the defective hemoglobin gene. The disorder is most prevalent in people of Italian, African, Middle Eastern, Greek and southern Asian ancestry.
Symptoms of Beta Thalassemia
Babies and small children are normally the first to experience symptoms, although symptoms can wait to appear later in life. Beta thalassemia minor typically exhibits only mild or no symptoms. Beta thalassemia major symptoms may include jaundice, fatigue, pale skin, irritability, slower than normal growth, facial bone deformities and dark urine.
Diagnosis of Beta Thalassemia
Blood tests will reveal red blood cells that are pale, smaller than normal, varied in shape or size, and cells that give a bulls-eye appearance. Blood tests may also be used to determine the amount of iron in the blood and for a DNA sample to see if the patient is carrying the defective hemoglobin gene.
Treatment of Beta Thalassemia
Beta thalassemia minor normally will need no treatment except for a blood transfusion given after surgery, after giving birth or if the patient has an infection. Beta thalassemia major may need up to eight or more blood transfusions a year, according to the Mayo Clinic. Iron chelators will be prescribed to rid the body of excess iron as numerous blood transfusions will cause an increase in iron resulting in heart or liver damage.
In severe cases of beta thalassemia major, a bone marrow or stem cell transplant may be necessary. These procedures are given only as a last resort because of severe complications including death.
Warnings About Beta Thalassemia
Beta thalassemia may cause a series of complications including spleen enlargement. The spleen fights infection in the body and also filters out waste. Red blood cells destroyed by thalassemia causes the spleen to work harder causing enlargement and in some cases may need to be removed.
Anemia caused by the low levels of hemoglobin may stunt your child’s growth and delay puberty.
Severe thalassemia may contribute to abnormal heart rhythms and congestive heart failure.
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