Blood cells need a protein called hemoglobin to be able to transport oxygen throughout the body. There are a variety of genetic disorders that can affect hemoglobin, including different types of hereditary anemias and other blood disorders known as thalassemias. Because there are different genes involves for each type of disease, some patients can have sickle anemia and a thalassemia simultaneously.
Sickle Cell Anemia
Sickle cell anemia is caused by a genetic mutation that causes patients to have an unusual form of hemoglobin known as hemoglobin S, the Washington State Department of Health reports. With sickle cell anemia, the red blood cells are not round but instead adopt a curved state which resembles a sickle. Not only does this cause them to clog up small blood vessels, resulting in impaired circulation, but these abnormal red blood cells are also destroyed more rapidly by the spleen than normal red blood cells. This causes patients to be chronically fatigued, have abdominal pain and an abnormally large spleen which may become damaged by the sickled red blood cells. The symptoms of sickle cell anemia can become exacerbated by emotional and physical stress, as well as viral illnesses.
Thalassemia
Thalassemias are another type of genetic problem which also affects hemoglobin levels in the body. In contrast to sickle cell anemia, however, patients who have thalassemias produce normal hemoglobin, they just produce much less of it. There are many different types of thalassemia, depending on what part of the hemoglobin molecule is under produced, but the most common variety is beta-thalassemia. Patients who have thalassemias have anemia because they have fewer than normal red blood cells.
Sickle Cell and Thalassemia
Because sickle cell anemia and beta thalassemia are due to different genetic mutations, some patients can develop both conditions simultaneously. This is actually fairly common, notes the Merck Manuals Online Library, because the genetic mutations that cause sickle cell and beta thalassemia are common in African, Mediterranean and Hispanic populations. Patients who have sickle cell/beta-thalassemia typically have symptoms similar to sickle cell anemia, though the intensity of the anemia can vary depending on the severity of the thalassemia.
Diagnosis
The easiest way to diagnose combination sickle cell/thalassemia diseases is to do a test known as electrophoresis. Electrophoresis can separate out different proteins by running an electrical charge through them while they are placed in a medium called a gel. Different kinds of hemoglobin will move at different speeds in the gel, which allows them to be separated. Doctors can then identify and quantify the amounts of sickle cell and normal hemoglobin. Patients who have hemoglobin S as well as a reduced amount of regular hemoglobin have the combination sickle cell/thalassemia disease.
Treatment
Because people with sickle cell/thalassemia often have the same health problems as patients with sickle cell disease, the two conditions are treated similarly. Patients may need antibiotics to help prevent pneumonia, which can be life threatening for people with sickle cell disease. Drugs may also be prescribed to help relieve pain, explains MayoClinic.com. Blood transfusions may also be needed to help augment the body's red blood cell supplies. Hyroxyurea can also be used to stimulate the body to make another form of hemoglobin, known as hemoglobin F, which can also be used to make red blood cells.
