Sickle Cell Trait / Disease

Sickle Cell anemia is a group of inherited red blood cell disorders.  Normal red blood cells are round like doughnuts, and move through small blood tubes in the body to deliver oxygen.  Sickle red blood cells become hard, sticky and crescent shaped.  When these cells go through the capillaries, they clog the flow and break apart.  This can cause pain, damage, a low blood count or anemia.

There is a substance in the red cell called hemoglobin that carries oxygen.  One little change in this substance causes the hemoglobin to form long rods in the red cell when it gives away oxygen.  These rigid rods change the red cell into a sickle shape.

There are three common types of sickle cell disease in the United States.

1. Hemoglobin SS or sickle cell anemia
2. Hemoglobin SC disease
3. Hemoglobin sickle beta-thalassemia

Each of these can cause sickle pain episodes and complications, but some are more common than others.  All of these may also have an increase in fetal hemoglobin which can protect the red cell from sickling and help prevent complications.  The medication hydroxyurea also increases fetal hemoglobin.

Incidence; Causes and Development

Sickle cell occurs in many ethnic groups including African Americans, Arabs, Greeks, Italians, Latin Americans and Native Americans.  All races should be screened for this hemoglobin at birth.

One inherits the abnormal hemoglobin from both parents who may be carriers with the sickle cell trait or have sickle cell disease.  One is born with the sickle cell hemoglobin and it is present for life.

Sickle cell trait occurs when a person carries one sickle hemoglobin producing gene inherited from their parents and one normal hemoglobin gene.  Normal hemoglobin is called type A. Sickle hemoglobin is called type S. Sickle cell trait is diagnosed by the presence of hemoglobin AS on the hemoglobin electrophoresis.  This will not cause sickle cell disease.  Sickle cell trait does not adversely affect an individual's life expectancy.

Signs and Symptoms

Symptoms of sickle cell disease come and go, with symptom episodes separated by periods of feeling well.  A 'sickle cell crisis', involving sudden and severe symptoms, usually occurs a few times each year.

Complications from the sickle cells blocking blood flow and breaking apart early include:

• pain episodes
• strokes
• increased infections
• leg ulcers
• bone damage
• yellow eyes or jaundice
• early gallstones
• lung blockage
• kidney damage and loss of body water in urine
• painful erections in men (priapism)
• blood blockage in the spleen or liver (sequestration)
• eye damage
• low red blood cell counts (anemia)
• delayed growth

Diagnosis and Tests

A simple blood test called the hemoglobin electrophoresis can be done by a doctor or local sickle cell foundation.  This test will indicate whether a person is a carrier of the sickle cell trait, or if they have the disease.  Most states now perform the sickle cell test when babies are born.  The simple blood test will detect sickle cell disease or sickle cell trait.

Treatment and Prevention

Sickle cell patient should be under the care of a medical team that understands sickle cell disease.  All newborn babies detected with sickle cell disease should be placed on daily penicillin to prevent serious infections.  All of the childhood immunizations should be given plus the pneumococcal vaccine.  Parents should know how to check for a fever because this signals the need for a quick medical checkup for serious infection.

The following are general guidelines to keep the sickle cell patient healthy:

• Taking oral supplements of the vitamin folic acid (folate) daily to help make new red cells
• Daily penicillin until age six to prevent serious infection
• Drinking plenty of water daily (8-10 glasses for adults)
• Avoiding too hot or too cold temperatures
• Avoiding overexertion and stress
• Getting plenty of rest
• Getting regular check-ups from knowledgeable health care providers

Hydroxyurea, a drug used to treat other blood disorders, may help reduce the recurrence of acute attacks (crises).  During an attack, a doctor may also administer pain relievers, fluid to prevent dehydration or oxygen to boost the level in the bloodstream.  The doctor also may prescribe antibiotics to deal with or prevent infections associated with sickle cell anemia.  Blood transfusions may reduce the body's level of abnormal hemoglobin.  If the anemia is the result of autoimmunity, managing it may include avoiding suspect medications, treating related infections and taking immunosuppressive drugs, such as corticosteroids.  Sometimes, removal of the spleen is called for.

Prognosis; Seek medical attention if...

Sickle cell trait does not adversely affect an individual's life expectancy.

Patients and families should watch for the following conditions that need an urgent medical evaluation:

• Fever
• Chest pain
• Shortness of Breath
• Increasing tiredness
• Abdominal swelling
• Unusual headache
• Any sudden weakness or loss of feeling
• Pain that will not go away with home treatment
• Priapism (painful erection that will not go down)
• Sudden vision change