Thalassemia is an inherited blood disorder. The gene which causes thalassemia is passed from parent to child. According to the World Health Organization, worldwide thalassemia anemias are the most common form of inherited blood disorder.
It is estimated that approximately two million persons living in the United States may be carriers of the gene that causes thalassemia.
Since thalassemia is an inherited genetic disorder, symptoms may present early. In the most severe forms, symptoms manifest shortly after birth while with other forms, symptoms may not present until later (by age two). Persons with mild forms of thalassemia may be asymptomatic and not experience any symptoms at all or may experience mild anemia which is mistaken for iron deficiency anemia.
According to the Mayo Clinic, symptoms include:
• Shortness of breath;
• Pale appearance;
• Yellow discoloration of skin (jaundice);
• Facial bone deformities;
• Slow growth;
• Protruding abdomen; and
• Dark urine.
In addition, thalassemia can cause other health problems such as delayed puberty and slow growth rate, bone problems (including osteoporosis, brittle or deformed bones –- particularly in the facial area), enlarged spleen, severe anemia, heart disease, and liver problems.
RISK FACTORS FOR DEVELOPING THALASSEMIA
Often referred to as “Mediterranean Anemia,” thalassemias tend to affect persons of Mediterranean descent. Persons of Italian, Filipino, Indian Asian, South Asian, African, Greek, Middle Eastern and Chinese descent are also at greater risk for developing thalassemia. In addition to ethnicity, persons with a family history of thalassemia are at greater risk for developing the disorder.
The hemoglobin genes are defective in persons with thalassemia. The defective gene results in lower red blood cell and hemoglobin count than normal. In addition, the existing red blood cells are destroyed at a much higher rate than what occurs in the normal red blood cell life cycle.
Hemoglobin is comprised of two separate protein chains: alpha and beta.