Hemoglobin C, S-C, and E diseases are inherited conditions characterized by abnormally shaped red blood cells and chronic anemia that is caused by excessive destruction of red blood cells.
Hemoglobin C, S, and E are abnormal forms of hemoglobin (the protein in red blood cells that carries oxygen). These abnormal forms of hemoglobin result from inheriting an abnormal gene.
Hemoglobin C disease occurs mostly in blacks. One copy of the gene that causes hemoglobin C disease is present in 2 to 3% of blacks in the United States. However, people must inherit two copies of the abnormal gene to develop the disease. In general, symptoms are few. Anemia varies in severity. People who have this disease, particularly children, may have episodes of abdominal and joint pain, an enlarged spleen, and mild jaundice, but they do not have severe crises, as occur in sickle cell disease.
Hemoglobin S-C disease occurs in people who have one copy of the gene for sickle cell disease and one copy of the gene for hemoglobin C disease. Hemoglobin S-C disease is more common than hemoglobin C disease, and its symptoms are similar to those of sickle cell disease but milder. However, people may have blood in the urine.
Hemoglobin E disease affects primarily people of Southeast Asian descent. This disease causes anemia but none of the other symptoms that occur in sickle cell disease and hemoglobin C disease.
Diagnosis and Treatment
Blood tests, including hemoglobin electrophoresis, are done for diagnosis. In electrophoresis, an electrical current is used to separate the different types of hemoglobin and thus detect abnormal hemoglobin.
Treatment varies depending on the symptoms and their severity. Some people do not need treatment, but when treatment is needed, it is similar to that of sickle cell disease.
Anemia from excessive bleeding results when loss of red blood cells through bleeding exceeds production of new red blood cells.
- When blood loss is rapid, blood pressure falls, and people may be dizzy.
- When blood loss occurs gradually, people may be tired, short of breath, and pale.
- Stool, urine, and imaging tests may be needed to determine the source of bleeding.
- The cause of bleeding is corrected, and transfusions and iron supplements are given if needed.
Excessive bleeding is the most common cause of anemia. When blood is lost, the body quickly pulls water from tissues outside the bloodstream in an attempt to keep the blood vessels filled. As a result, the blood is diluted, and the hematocrit (the percentage of red blood cells in the total blood volume) is reduced. Eventually, increased production of red blood cells by the bone marrow may correct the anemia. However, over time, bleeding reduces the amount of iron in the body, so that the bone marrow is not able to increase production of new red blood cells to replace those lost.
Rapid blood loss
The symptoms may be severe initially, especially if anemia develops rapidly from a sudden loss of blood, such as from an injury, surgery, childbirth, or a ruptured blood vessel. Losing large amounts of blood suddenly can create two problems:
- Blood pressure falls because the amount of fluid left in the blood vessels is insufficient.
- The body’s oxygen supply is drastically reduced because the number of oxygen-carrying red blood cells has decreased so quickly.
- Either problem may lead to a heart attack, stroke, or death.
Chronic blood loss
Far more common than a sudden loss of blood is long-term (chronic) bleeding, which may occur from various parts of the body. Although large amounts of bleeding, such as that from nosebleeds and hemorrhoids are obvious, small amounts of bleeding may not be noticed. For example, a small amount of blood may not be visible in the stool. This type of blood loss is described as occult. If a small amount of bleeding continues for a long time, a significant amount of blood may be lost. Such gradual bleeding may occur with common disorders, such as ulcers in the stomach or small intestine and diverticulosis, polyps, or cancers in the large intestine. Other sources of chronic bleeding include kidney or bladder tumors, which may cause blood to be lost in the urine, and heavy menstrual bleeding.
Symptoms and Diagnosis
Symptoms are similar to those of other types of anemia and vary from mild to severe, depending on how much blood is lost and how rapidly. When the blood loss is rapid—over several hours or less—loss of just one third of the blood volume can be fatal. Dizziness upon sitting or standing after a period of lying down (orthostatic hypotension) is common when blood loss is rapid. When the blood loss is slower—over several weeks or longer—loss of up to two thirds of the blood volume may cause only fatigue and weakness or no symptoms at all, if the person drinks enough fluids.
Post a comment