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Beta Thalassemia Diagnosis

Beta thalassemia is an inherited blood disorder characterized by insufficient production of hemoglobin, which assists red blood cells in moving oxygen throughout the body. It is caused by any of the 200 possible mutations of genes responsible for hemoglobin production. Many kinds of thalassemia exist, with beta thalassemia being the most common. It comes in two forms, minor and major. It is most common if you are of African, Italian or Greek origin.

  1. Beta Thalassemia Minor

    • Thalassemia minor is the less serious form of beta thalassemia. You only have one copy of the defective gene that causes abnormal hemoglobin production and might not experience any symptoms. Mild anemia is possible. You will probably not need any treatment for this condition as it only lowers your hemogloblin levels slightly below normal.

    Beta Thalassemia Major

    • Thalassemia major is a serious condition and is known as Cooley's anemia. You are born with two copies of the defective gene and your hemoglobin production is severely compromised. This is a serious condition requiring life-long treatment.

    Symptoms

    • Symptoms of Cooley's anemia include infections, jaundice, dark urine, failure to grow, abdominal swelling, facial and skeletal deformities, irregular heartbeat, cardiac failure, and gallstones (typically after four years of age), irregular heart beat and leg ulcers. As the child gets older, delayed sexual development and absence of a period are possible.

      When a child is first born, a different form of hemoglobin is present that keeps symptoms from manifesting right away. They usually appear late in the first year of life.

    Diagnosis

    • Thalassemia lowers your red blood cell count and causes red blood cells to be smaller than usual. A doctor can diagnose this condition and determine the type by using blood tests and molecular medical tests. They can even be used before birth.

    Treatment

    • Treatment for Cooley's anemia involves life-long blood transfusions. They can relieve symptoms but can cause problems like iron overload; this requires treatments to prevent excess iron buildup. Transfusions aim to improve quality of life, reduce the risk of infection and prevent complications like heart and liver problems and changes in the bone. Iron overload is addressed through chelation therapy, which removes harmful substances from the body and certain medications. In some cases, a bone marrow transplant can alleviate the condition but is only viable in certain circumstances. Your doctor would let you know if this was a good option.

      Besides receiving regular transfusions, you will need regular care to monitor your condition, check your blood and look out for complications.

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