Abnormal Hemoglobin Traits

There are more than 400 unusual hemoglobin (Hb) genes associated with sickle cell disease and other hemoglobin variants. In the United States, millions carry a trait (one usual hemoglobin A gene, and one of the 22 most common sickle hemoglobin genes. The three most common sickle traits worldwide are S trait (Hb AS), C trait (Hb AC) and b Thalassemia trait (Hb A A2).

Sickle Cell Disease is a genetically inherited blood disorder prevalent among people of African, Caribbean, Central/South American, East Indian, Middle Eastern, Mediterranean, Asian and Southeast Asian ancestry. Sickle cell trait and disease is indigenous to all these populations because of malaria. These genetic mutations developed over thousands of years as a result of the human body’s natural immune response against malaria.

The disease process results in severe anemia, oxygen deprivation, poor circulation and extreme pain. Painful episodes known as “crisis” are disabling and debilitating. Complications associated with sickle cell disease are:

  • Enlargement and damage of the spleen (life threatening, especially in children).
  • Dysfunction or acute failure of the liver or kidneys.
  • Damage to tissue and bone due to diminished blood flow and loss of oxygen.Organs most commonly affected are the heart, lungs, brain, shoulders and hips bones as well as upper and lower extremities – resulting in the development of arm and leg ulcers.
  • Stroke due to infarction of blood vessels.

In some cases, beginning as early as the age of 6 months, individuals with sickle cell disease can experience frequent, severe painful episodes that require multiple hospitalizations for treatment. It is common to spend weeks, sometimes months in the hospital for excruciating crisis episodes, especially when accompanied by other complications. Even in the case of adequate medical care, severe disability or death may result in childhood and early adult years.