Thalassemia Trait Diagnosis

Thalassemia is an inherited blood disorder affecting hemoglobin in the blood. Hemoglobin is protein in red blood cells that carry oxygen. The disorder will cause abnormal hemoglobin to develop resulting in less red blood cells and leading to anemia. The condition is most apparent in people of Greek, Italian, Middle Eastern and African ancestry.

Causes

• You may contract thalassemia from one or both parents. When contracting the blood disorder from one parent the disease is called thalassemia minor and you will only carry the disease and not suffer any symptoms. Thalassemia major is inherited from both parents and you can suffer symptoms and carry the disease.

Symptoms

• Children born with thalassemia major may not show any symptoms at birth, but develop symptoms within the first year. Symptoms may include growth failure, bone deformities in the face, yellowing of the skin, shortness of breath, fatigue, irritability, paleness, weakness and dark urine.

Diagnosis

• Blood tests will be taken and reveal blood cells that are pale, small, vary in shape or size or have a bulls-eye appearance when viewed under a microscope. Blood tests can also evaluate the hemoglobin in the blood, measure iron levels, and provide a DNA sample to determine if the child is carrying the defective hemoglobin gene. A complete blood count will show if anemia is present.

Treatment

• Mild thalassemia may need no treatment or treatment of a blood transfusion only after delivering a baby, surgery or if you develop an infection. Treatment for moderate to severe thalassemia may need eight or more blood transfusions a year. Iron tends to build up in your bloodstream after blood transfusions so you will need to rid your body of excess iron. Iron chelators taken in pill form or skin injections will excrete the excess iron from your body.

Lifestyle Changes

• Avoid iron supplements unless your doctor advices otherwise. Your doctor may recommend a folic acid supplement to help boost red blood cells and increase energy levels. Tea may help keep iron levels low as a substance in tea called tannins keeps iron from being absorbed. Avoid infections by washing your hands frequently and avoiding sick people. You may need an annual flu shot and pneumonia and hepatitis B vaccines to prevent infections. Untreated thalassemia major can lead to heart failure and death, so follow your doctor's instructions in treating this blood disorder.