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Q. What is a hemoglobinopathy? |
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A. Hemoglobinapthy is a term used to describe disorders caused by the presence of abnormal hemoglobin production in the blood.
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Q. What is hemoglobin and what does it do? |
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A. One role of blood is to take oxygen from the air in the lungs and deliver it to all parts of the body. The part of the blood that does this job is the red blood cell. Hemoglobin is the part of the red blood cell that carries the oxygen. The most common form of hemoglobin is made up of two parts, alpha globin and beta globin. |
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Q. What causes abnormal hemoglobin production? |
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A. It is caused by genetic variations
which can result in production of hemoglobin with different structures
and/or thalassemias, reductions in the amount of normal hemoglobin produced.
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Q. Is there only one type of hemoglobinopathy? |
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A. No. Many abnormal hemoglobins have been indentified but the main types picked up by the Washington State Newborn Screen include:
Hemoglobin S (sickle cell), Hemoglobin C, Hemoglobin E and Hemoglobin D. The letters signify the difference in each hemoglobin's structure. For specific information on these abnormal hemoglobins, see the "Reports & Publications" page.
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Q. Is there only one type of Thalassemia? |
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A. No. Mulitple thalasemmias exist but the Washington State Screen picks up Alpha Thalassemia (Bart's), which is a reduction in the amount of alpha globin produced. For more information on Alpha Thalassemia, see the "Reports & Publications" page. The "Reports & Publications" page also has information about Beta Thalassemia.
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Q. Test results show my baby has a hemoglobin trait. What does that mean? |
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A. A person with a hemoglobin trait is someone who does not have the disease itself, but can pass it to their children. For example, a baby who has sickle cell trait is a carrier of a gene for sickle cell disease. These babies tend to be as healthy as babies who are not carriers.
Parents should discuss the meaning of having a hemoglobin trait with their doctor or genetic counselor.
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