Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Hemoglobin is made of two proteins:
01
Alpha globin
02
Beta globin
Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.
There are two main types of thalassemia:
01
Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
02
Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.
There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
01
Thalassemia major
02
Thalassemia minor
You must inherit the gene defect from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.
Beta thalassemia major is also called Cooley anemia.
Risk factors for thalassemia include:
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Asian, Chinese, Mediterranean, or African American ethnicity
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Family history of the disorder
Family Planning
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If you are planning to have children and both you and your partner carry the trait for thalassemia, your future children could be born with thalassemia disease, which is a serious medical condition. Prenatal and other testing options are available to couples found to be at risk for having a baby with the disease.
02
If you carry the trait for thalassemia, but your partner does not, your child could inherit the trait from you. It is important that this goes into their medical records for your children and grandchildren’s future family planning
Healthy Pregnancy
01
Women who carry the trait may be more likely to develop anemia during their pregnancy. It is important to discuss this condition with your medical provider.
Your Health Matters
01
When a trait carrier has a blood test, their red blood cells may appear smaller than what is normal. Knowing that you carry the trait for thalassemia can prevent you from having unnecessary diagnostic tests.
02
Doctors often mistake being a carrier for thalassemia as having iron deficient anemia, due to the small size of red blood cells. Therefore, they often prescribe iron supplements. Iron supplements may result in excess iron, which can collect in many areas of the body causing organ damage. Carriers should only take iron supplements if a blood test (serum iron) shows they are iron deficient.
Getting Tested is Simple
All you need is a blood test which checks the following:
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Hemoglobin electrophoresis with quantitative hemoglobin A2 and hemoglobin F
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CBC – Complete Blood Count
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Iron Studies (free erythrocyte proto porphyrin, ferritin, and/or other iron studies
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