HBB gene mutations result in Beta Thalassemias, a type of blood disorder inherited from parents. In this condition, the body produces abnormal forms of hemoglobin that obstruct normal functioning and damage red blood cells. The risk of developing this disease, become all the more higher when both your parents are carriers.
Beta thalassemia greatly affects spleen and causes gallbladder stones. It is of three types; namely, minor, intermediate and major. Minor thalassemia do not show any significant symptom. People may suffer from slight anemia and related symptoms. Thalassemia in intermediate and major forms cause serious discomforts.
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Pale skin, jaundice, enlarged organs that can be felt externally, lack of appetite, etc. Infants and children may even find it tough to survive and get through these symptoms. Intermediate and major stages have similar symptoms. However, with the progression of disease, the symptoms become worse and may prove fatal.
Early diagnosis of this disease is very critical to prevent it from taking a notorious form. Beta Thalassemia testing involves collection of blood sample that are tested under laboratory condition. Irregular RBC shapes confirm the disease. The blood is usually drawn from your arms through a venipuncture.
Most patients with severe condition undergo a blood transfusion or surgical removal of gallbladder or spleen to treat the condition. On the other hand, minor thelassemia can be treated with medication and supplements.