Sickle-Cell Anemia

What is Sickle cell anemia?

Sickle cell anemia is a serious blood disorder due to an abnormality of the oxygen-carrying molecule in red blood cells (hemoglobin). This abnormality causes the red blood cells to become deformed into a distinctive "sickle" shape under certain circumstances. The cells can then become trapped, block the circulation, and break down. This results in a chronic anemia, as well as injury to many organs of the body from interference with their blood supply. The disorder is seen primarily in blacks. The disease becomes apparent in infancy, and occurs when the child inherits the sickle cell gene from both parents. There is no known cure. Individuals with the disease are susceptible to sickle cell crisis, a painful condition in which red blood cells become sickled in small blood vessels and acutely block oxygen delivery to the tissues. Over time, these cells can become permanently sickled and cause irreversible organ damage.

How is it diagnosed?

Physical exam may include the findings of pallor, labored breathing, heart murmurs, heart enlargement, irregular heartbeat, an enlarged spleen and liver, jaundice, degeneration and hemorrhages in the retina, and skin ulcers.

Tests: The blood count shows a marked anemia. A blood smear will show the distinctive sickle cells characteristic of this disease. The diagnosis can be confirmed by another blood test (hemoglobin electrophoresis) demonstrating the abnormal hemoglobin, called hemoglobin-S.

How is Sickle cell anemia treated?

Treatment is mainly limited to addressing problems with sickle cell crises; no cure is available for this disease. Dehydration and infection can provoke a crisis, so individuals are advised to ingest plenty of liquids and take whatever precautions they can to avoid contracting illnesses. For most individuals, the only regular treatment is folic acid supplements. Blood transfusions are recommended only for acute crises, during the third trimester of pregnancy, and prior to major surgery. Occasionally, individuals who suffer chronic attacks are given oral hydroxyurea, which may reduce the frequency of crises, but long-term effects are unknown.

As for preventive treatment, individuals with the sickle cell gene as well as outright sickle cell anemia can seek genetic counseling before pregnancy to avoid passing the trait on to future generations. Immunization against pneumococcal pneumonia is recommended for children.

Medications

Gyne-lotrimin (Clotrimazole), Trental (Pentoxifylline)

Activity

• Avoid strenuous exercise and exposure to cold temperatures. Rest in bed during acute attacks.
• Activity may be somewhat limited due to chronic anemia and poor muscular development.

What might complicate it?

Sickle cell crises can damage the liver, spleen, kidneys, lungs, heart, bones, and brain. These individuals may experience frequent infections, clotting or bleeding episodes. They are also at greater risk to lose their sight.

Pregnancy can cause serious complications for women with sickle cell anemia. The anemia is likely to become more severe and painful crises more frequent These individuals also face greater risks of infection, bone pain, heart problems, and preeclampsia, as well as higher rates of maternal and fetal mortality.

Predicted outcome

Repeated sickling crises can be expected. The life expectancy in sickle cell anemia is shortened, due to cumulative damage to vital organs. Only half of those with this diagnosis live to age 40, and only one percent survive to be 60.

Alternatives

There are other chronic anemias involving abnormal hemoglobins such as the thalassemias. A sickling crisis can be confused with an acute gallbladder attack, a kidney stone, heart disease, or various brain disorders.

Appropriate specialists

Hematologist.

Last updated 22 June 2015