Treatments for genetic illness

The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders.

“Inherited” means that the disease is passed by genes from parents to their children. Sickle cell disease is not contagious. A person is born with sickle cell disease.

Red blood cells contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round and move through small blood vessels to carry oxygen to all body parts. In someone with SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other health problems such as infection, acute chest syndrome and stroke.

In the United States, most people with sickle cell disease are of African ancestry or identify as black. Worldwide, there is also a higher incidence of SCD among Hispanic, southern European, Middle Eastern and Asian Indian people. Whenever and wherever both biological parents carry the sickle cell trait, there is a possibility that their child may inherit the genes that produce SCD.

Types of Sickle Cell Disease

There are several types of SCD. The specific type of SCD a person has depends on the genes inherited from their parents. People with SCD inherit genes that contain instructions, or code, for abnormal hemoglobin.

HbAS

People who have sickle cell trait (SCT) inherit a hemoglobin “S” gene from one parent and a normal gene (one that codes for hemoglobin “A”) from the other parent. People with SCT usually do not have any signs of the disease.

Cause of SCD

SCD is a genetic condition that is present at birth. It is inherited when a child receives two genes – one from each parent – that code for abnormal hemoglobin.

Diagnosis

SCD is diagnosed with a simple blood test and is most often found at birth during routine newborn screening tests. SCD can also be diagnosed while the baby is in the womb.

General Prevention Strategies

Management of SCD is focused on preventing and treating pain episodes and other complications. There are simple steps that people with SCD can take to help prevent and reduce the occurrence of pain crises, including the following:

* Drink plenty of water.

* Try not to get too hot or too cold.

* Try to avoid places or situations that cause exposure to high altitudes (for example, flying, mountain climbing or cities with a high altitude).

Try to avoid places or situations with exposure to low oxygen levels (for example, mountain climbing or exercising extremely hard, such as in military boot camp or when training for an athletic competition).

Simple steps to prevent harmful infections include the following:

* Wash your hands often with soap and clean water. Family members and caregivers should also wash their hands often to help prevent infection.

* Prepare food safely. Bacteria can be especially harmful to children with SCD.

Medical Screenings & Interventions to Prevent SCD Complications Prevention of Infections

It is crucial that children with SCD get all regular childhood vaccines. Children and adults should get the flu vaccine every year, the pneumococcal vaccine and any others recommended by a doctor.

Penicillin greatly reduces the risk of infections in people with HbSS and is even more effective when it is started earlier.

Prevention of Vision Loss

Yearly visits to an eye doctor to look for damage to the retina (the part of your eye that senses light and sends images to your brain) are essential for people with SCD to avoid vision loss.

Prevention of Stroke

Children at risk for stroke can be identified using a special type of exam called transcranial Doppler ultrasound (TCD). If the child is found to have an abnormal TCD, a doctor might recommend frequent blood transfusions to help prevent a stroke.

People with frequent blood transfusions are usually watched closely because there can be serious side effects. For example, because blood contains iron, transfusions can lead to an iron overload condition, in which too much iron builds up in the body. Iron overload can cause life-threatening damage to the liver, heart and other organs.

Prevention of Severe Anemia

Blood transfusions may be used to treat severe anemia. A sudden worsening of anemia resulting from infection or enlargement of the spleen (an organ in the upper left side of the abdomen) is a common reason for a transfusion.

As with preventing stroke, frequent blood transfusions can cause iron overload, and iron chelation therapy may be needed to reduce excess iron in the body.

Management of Pain Crises

When pain crises do occur, clinical management may include the following:

* Intravenous fluids

* Pain-reducing medicine

* Hospitalization for severe pain crises

Specific Treatments to Prevent SCD Complications

SCD is a disease that generally worsens over time. Treatments are available that can prevent complications and lengthen the lives of those who have this condition. It is important to understand the benefits and risks of each treatment option.

If you or someone you know needs medical guidance for sickle cell disease, contact the Adult Sickle Cell Service at Ochsner LSU Health Shreveport Feist- Weiller Cancer Center at (318) 813-1405. Pediatric patients will be seen at the St. Jude Clinic and can make an appointment by calling (318) 813-2001.

An adult sickle cell support group for Ochsner LSU Health Shreveport SCD patients has been meeting weekly since July 2010. The group meets virtually every Monday at noon. If you or someone you know is interested in the support groups at FWCC, contact Ron Nierman, MA, LPC, CGP by phone at (318) 470-6180 or Jackie Walton RN, BSN by phone at (318) 813- 1405.

Ron Nierman, MA, LPC, CGP, support group leader, Feist-Weiller Cancer Center; and Jackie Walton, RN, support group leader, Feist-Weiller Cancer Center.