Inherited Hemoglobin Disorders

Sickle Cell Disease (SCD)

SCD is an inherited disorder caused by an abnormal form of a protein called beta-globin. This can cause red blood cells to become sickle (crescent)-shaped and inflexible. Because of their abnormal shape, red blood cells have problems carrying oxygen and traveling through blood vessels. As a result, certain tissues in a child’s body don’t receive enough blood. 

This can cause serious problems, including severe pain, stroke or bacterial infections. If you have SCD, you may have pain in your hands, arms, legs and other parts of your body; chest pain with breathing problems; nervous system problems, from minor ones to stroke; and an enlarged spleen.

Thalassemia

This is another inherited blood disorder caused by a defect in the gene that helps control the production of hemoglobin. There are two main types of thalassemia: alpha and beta, which differ according to which protein is altered. 

In both cases, people with thalassemia have fewer healthy red blood cells. Children with thalassemia develop anemia and may have symptoms such as pale skin and fatigue. They may also have weakness and enlargement of organs such as the heart, spleen and liver.