SICKLE CELL CASES

Sickle Cell Disease: Management and Treatment

What is Sickle Cell Disease?

Sickle cell disease is the most common genetic blood disorder affecting people in the United States. It affects almost 90,000 Americans with higher incidence among black America. The term sickle cell disease (SCD) or commonly sickle cell anemia (SCA) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called HbS or sickle hemoglobin, in their red blood cells. The abnormal hemoglobin S, distorts red blood cells into a sickle, or quarter-moon shape. We all know that blood is life and life is in the blood because the blood transports nutrients to all body cells keeping them alive thus making every food you eat relevant to your body cell. Read more in CBAY’s Blood is Life.

Hemoglobin is a transport protein in erythrocytes. It is the molecule that gives the blood its red color, and it this molecule called hemoglobin that performs transport oxygen throughout the body. Sickle red blood cells cannot effectively transport Oxygen because they have abnormal hemoglobin.

Signs and Symptoms of Sickle Cell Disease

Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.

The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia.

1.       Anemia due to premature breakdown of sickled red blood cell. Sickled red blood cell has a shorter lifespan than normal red blood cell. Normal red blood cells can live up to 90 to 120 days while sickled red blood cells 10 to 20 days.

2.       Dyspnea or shortness of breath also due to anemia

3.       Lethargy and fatigue also due to poor supply of oxygenated blood to organs and muscles

4.       Jaundice-due to rapid breakdown of red blood cells resulting in yellow coloration of the eyes, urine, feces and skin.

5.       Recurrent episodes of serious pain-due to stiffing of fragile, abnormally inflexible sickled red blood cell sticking to and clogging the surface smaller blood vessels called capillaries. This results in end organs deprived of adequate supply of oxygen.

6.       Complications such as hypertension and pulmonary congestion.

Though, the bone marrow regularly produces new red blood cells to replace the old cells; in SCD, the number of red blood cells is usually below normal because of the way the majority of the red blood cells which are sickled are being rapidly destroyed

How is sickle cell disease inherited?

Sickle cell disease is an inherited condition. Two genes for the sickle hemoglobin must be inherited from one's parents in order to have the disease. A person who receives a gene for sickle cell disease from one parent and a normal gene from the other is said to have a condition called "sickle cell trait. Read more here about thegenetics of SCD

Life-expectancy of a person with SCD

Due to high technological and knowledge advancement, the life expectancy of a person with SCD is now about 40–60 years especially in developed countries such as the United State. In 1973, Statistics has it that the average lifespan of a person with SCD in the United States as 14 years.

Treatment of Sickle Cell Disease

SCD has no cure until 1984 when the first successful hematopoietic stem cell transplantation (HSCT) in a patient with SCD was reported in a pediatric patient with coexisting acute myeloid leukemia. Hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. A well-matched donor is needed to have the best chance for a successful transplant while the cost which is more than $350,000 is not within the reach of mere men in developing countries. Read the Story of Ieshea Thomas.

However, there are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being.

Management of Sickle Cell Disease

The goals of the treatment are to

1.       Prevent or relieve pain;

2.       Prevent infections,

3.       End-organ damage and reduces chances of complications or crisis.

 Pain Relief

Mild pain is often treated with over-the-counter medicine. The usual treatments for acute pain crises are fluids to prevent dehydration and pain-controlling medicines to treat pain crises.

 include acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs), and opioids. Treatment for mild to moderate pain usually begins with NSAIDs or acetaminophen. If pain persists, an opioid analgesics may be needed. Moderate to severe pain is often treated with opioid analgesics or the combination of opioids and non-opioid analgesics.  For more on pain drugs visit here

Pain Prevention

Those with more severe sickle cell anemia may benefit from hydroxyurea. This medicine may help reduce the number of painful crises. Hydroxyurea is used to prevent painful crises, not to treat them when they occur. Hydroxyurea treatment may be helpful in reducing crises and the need for transfusions. For more information about hydroxyurea, visit here.

Prevention of Infections in SCD

Bacterial infections can be a major complication of sickle cell disease, but often they can be prevented or treated. If a child who has sickle cell disease shows early signs of an infection, such as a fever, difficulty breathing, or localized bone pain, treatment should be given right away.

To prevent infections in babies and young children, treatments include:

• Daily doses of penicillin. Treatment may begin as early as 2 months of age and continue until the child is at least 5 years old.
• All routine vaccinations (including a yearly flu shot), plus vaccination(s) against streptococcus pneumonia.

Both adults and children are at risk for a variety of infections, such as pneumonia and bone infections. It is recommended to go for laboratory examinations when a person with SCD has fever, since early diagnosis and treatment result in better outcomes.

Reducing Chances of Complications in SCD

Complications from sickle cell disease can include gallstones, lung crises (acute chest syndrome), pulmonary hypertension, stroke, leg ulcers that don't heal, and eye damage.

Blood transfusions are commonly used to treat worsening anemia and sickle cell complications. Most patients with sickle cell disease have at least occasional blood transfusions. Patients with severe complications–such as stroke and acute chest syndrome–may require months or years of regular transfusions every three to four weeks to prevent ongoing damage. Hydroxyurea is of high benefit in preventing complication in SCD.