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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 can cause problems with the way oxygen is carried in the red blood cells. Some of the more common changes have been given names such as hemoglobin C or hemoglobin E, but all together these changes are often called hemoglobin variants. There can also be problems that don’t directly change the hemoglobin itself, but lead to reduced amounts of hemoglobin being produced. These changes are called beta-thalassemias. 

Some combinations of these variants and beta-thalassemias can lead to one or more of the problems seen with sickle cell disease (such as low blood count). Babies with these combinations of variants can benefit from early treatment which will help prevent serious illness.

Other combinations of variants, such as Homozygous Hemoglobin D or Hemoglobin D-Beta Thalassemia do not lead to a significant change in the way the body carries oxygen. Babies with these variants are healthy.

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SOURCE: Hemoglobin Disorders ( )
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