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Hemoglobin Disorders

Hemoglobin disorders happen when the part of the red blood cell that carries oxygen (hemoglobin) throughout the body is changed. Hemoglobin is important because it picks up oxygen in the lungs and carries it to the other parts of the body. Serious health problems can be prevented through medicines and special treatments.

Screening for sickle cell disease may also tell if your baby is a carrier (also referred to as a "trait") for one of these disorders. These babies are healthy and no more likely to get sick than any other baby.

Sickle cell disease (SCD) is an inherited disorder that affects hemoglobin. Hemoglobin is a protein in the red blood cell that is responsible for carrying oxygen from the lungs to all parts of the body. Babies with sickle cell disease make a different kind of hemoglobin called hemoglobin S which is not as efficient at transporting oxygen.  Some people with sickle cell disease can have hemoglobin S in combination with other hemoglobin variants called hemoglobin C, hemoglobin E and beta-thalassemia. These combinations can also lead to problems similar to those seen in sickle cell disease.


In SCD, the hemoglobin S causes the red blood cells to change their shape to look like a sickle or crescent moon shape.  These cells are hard, sticky, and have trouble moving through small blood vessels.  Babies with SCD usually have no symptoms at birth but if untreated are at risk of certain infections, pain crises and other health problems. Screening means that babies with sickle cell disease can receive early treatment, including immunizations and antibiotics, which will help prevent serious illness and allow the child to live a healthier life.

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Besides sickle cell disease, other changes in hemoglobin may be picked up by the newborn screen by chance.  Some of the more common changes have been given names such as hemoglobin C, hemoglobin D or hemoglobin E, but all together these changes are called hemoglobin variants.


Babies who carry a single copy of a hemoglobin variant are no more likely to get sick than any other baby.  Less commonly, babies may have a combination of hemoglobin variants. Some combinations may result in anemia which would benefit from treatment and follow up, while other combinations do not affect the baby's health and need no follow up.  See the information sheets below for more details.   

SOURCE: Hemoglobin Disorders ( )
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