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African-American | Asian | Hispanic | Mediterranean
Middle Eastern

Sickle Cell Disease

A blood disorder that affects hemoglobin, a molecule that carries oxygen throughout the body.  Patients with this disorder have abnormal hemoglobin molecules that cause their red blood cells to form abnormal shapes (sickling) under certain conditions.  Symptoms include shortness of breath, fatigue, poor growth, recurrent infections, severe pain, blindness, and stroke.  Treatments may include regular blood transfusions, or even bone marrow transplants.

 

Alpha-Thalassemia

A blood disorder that causes decreased production of hemoglobin, a molecule that carries oxygen throughout the body.  Alpha-thalassemia is caused by mutations in the alpha chain genes that make the hemoglobin molecule.  Symptoms include pale appearance, shortness of breath, fatigue, and poor growth.  The most severe form is called Hemoglobin Bart’s disease, and is life-threatening.  Patients with the most severe form of the disease may be treated with regular blood transfusions.  Most common in Southeast Asian, Middle Eastern, Chinese, and African populations.

 

Beta-Thalassemia

A blood disorder that causes decreased production of hemoglobin, a molecule that carries oxygen throughout the body.  Beta-thalassemia is caused by mutations in the beta chain genes that make the hemoglobin molecule.  Symptoms include pale appearance, shortness of breath, fatigue, and poor growth.  The most severe form is called Cooley’s anemia or beta-thalassemia major, and is life-threatening.  Patients with the most severe form of the disease may be treated with regular blood transfusions.  Most common in African American, Asian, Hispanic, Mediterranean, and Middle Eastern populations.