Sickle cell disease

Sickle cell disease can occur when an individual inherits the abnormal haemoglobin HbS from both parents or if one parent carries HbS and the other -thalassaemia. Sickle cell anaemia is a serious inherited (genetic) disorder. People who have sickle cell anaemia are born with it. It is a lifelong disease in which the body makes abnormally shaped red blood cells. Normal red blood cells are smooth and round like a doughnut without a hole. They move easily through blood vessels to carry oxygen to all parts of the body. In sickle cell anaemia, the body produces red blood cells that are shaped like a sickle (or crescent). These "sickle cells" are hard and sticky and they don't move easily through blood vessels. They tend to get stuck and block the flow of blood to the limbs and organs. This can cause pain, organ damage, and a low blood count (anaemia). Sickle cell anaemia affects millions of people. Effective treatments exist for the symptoms and complications of the disease, but there is no cure, although in selected cases bone marrow transplantation may offer a cure. Over the past 30 years, doctors have learned a great deal about the disease. They know what causes it, how it affects your body, and how to treat many of the complications.
Summary of Sickle Cell Anemia

Sickle cell anemia is an inherited blood disease. That means you are born with it and it lasts a lifetime. People with sickle cell anemia inherit two variant or sickle cell genes, one from each parent. In the United States, sickle cell anemia affects about 72,000 people. The families of most of the people affected come from Africa. About 2 million Americans carry the sickle cell trait. About 1 in 12 African Americans have the trait. The signs and symptoms of sickle cell anemia are different in each person. Some people have mild symptoms. Others have very severe symptoms and are often hospitalized for treatment. Painful crises are the leading cause of emergency room visits and hospitalizations. Infection is a major complication of sickle cell anemia. In fact, pneumonia is the leading cause of death in children with the disease. Screening tests are done on newborn infants in most States. These tests can show if the newborn infant has sickle cell anemia or carries the sickle cell trait. Although there is no cure for sickle cell anemia, doctors know a great deal about how to treat it. The goal of treatment is to relieve pain, prevent infections, and control complications if they occur. The treatments include: o Medications

o o

Blood transfusions Specific treatment for complications.

If you have sickle cell anemia, it is important to take good care of yourself and see your doctor regularly. If your child has sickle cell anemia, you should learn as much about the disease as possible. This will help you recognize early signs of problems, such as fever or chest pain, and seek early treatment.

What Is Sickle Cell Anemia?

Sickle cell anemia (uh-NEE-me-uh) is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. Sickleshaped means that the red blood cells are shaped like a crescent. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin (HEE-muh-glow-bin). This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin orhemoglobin S. Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain, serious infections, and organ damage.

Normal Red Blood Cells and Sickle Cells

Figure A shows normal red blood cells flowing freely in a blood vessel. The inset image shows a cross-section of a normal red blood cell with normal hemoglobin. Figure B shows abnormal, sickled red blood cells blocking blood flow in a blood vessel. The inset image shows a cross-section of a sickle cell with abnormal (sickle) hemoglobin forming abnormal strands.

Overview

Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood has a lower than normal number of red blood cells. This condition also can occur if your red blood cells don't contain enough hemoglobin. Red blood cells are made in the spongy marrow inside the large bones of the body. Bone marrow is always making new red blood cells to replace old ones. Normal red blood cells live about 120 days in the bloodstream and then die. They carry oxygen and remove carbon dioxide (a waste product) from your body. In sickle cell anemia, the number of red blood cells is low because sickle cells don't last very long. Sickle cells usually die after only about 10 to 20 days. The bone marrow can't make new red blood cells fast enough to replace the dying ones. Sickle cell anemia is an inherited, lifelong disease. People who have the disease are born with it. They inherit two genes for sickle hemoglobinone from each parent. People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have a condition called sickle cell trait.

Sickle cell trait is different than sickle cell anemia. People who have sickle cell trait don't have the disease, but they have one of the genes that cause it. Like people who have sickle cell anemia, people who have sickle cell trait can pass the sickle hemoglobin gene on to their children.

Outlook

Sickle cell anemia has no widely available cure. However, treatments can help with the symptoms and complications of the disease. Blood and marrow stem cell transplants may offer a cure for a small number of people. Over the past 100 years, doctors have learned a great deal about sickle cell anemia. They know its causes, how it affects the body, and how to treat many of its complications. Sickle cell anemia varies from person to person. Some people who have the disease have chronic (long-term) pain or fatigue (tiredness). However, with proper care and treatment, many people who have the disease can have improved quality of life and reasonable health much of the time. Due to improved treatments and care, people who have sickle cell anemia are now living into their forties or fifties, or longer.

Sickle cell anemia Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease Last reviewed: February 28, 2011. Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.) Causes, incidence, and risk factors Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen. Hemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles. The fragile, sickle-shaped cells deliver less oxygen to the body's tissues. They can also get stuck more easily in small blood vessels, and break into pieces that interupt healthy blood flow. Sickle cell anemia is inherited from both parents. If you inherit the hemoglobin S gene from one parent and normal hemoglobin (A) from your other parent, you will have sickle cell trait. People with sickle cell trait do not have the symptoms of sickle cell anemia. Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East. Symptoms Symptoms usually don't occur until after age 4 months. Almost all patients with sickle cell anemia have painful episodes (called crises), which can last from hours to days. These crises can affect the bones of the back, the long bones, and the chest.

Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay. Common symptoms include:

Attacks of abdominal pain Bone pain Breathlessness Delayed growth and puberty Fatigue Fever Paleness Rapid heart rate Ulcers on the lower legs (in adolescents and adults) Yellowing of the eyes and skin (jaundice)

Other symptoms include:

Chest pain Excessive thirst Frequent urination Painful and prolonged erection (priapism - occurs in 10 - 40% of men with the disease) Poor eyesight/blindness Strokes Skin ulcers

Signs and tests Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:

Complete blood count (CBC) Hemoglobin electrophoresis Sickle cell test

Other tests may include:

Bilirubin Blood oxygen CT scan or MRI Peripheral smear Serum creatinine Serum hemoglobin Serum potassium Urinary casts or blood in the urine White blood cell count

Treatment The goal of treatment is to manage and control symptoms, and to limit the number of crises. Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis. Folic acid supplements should be taken. Folic acid is needed to make red blood cells. Treatment for a sickle cell crisis includes:

Blood transfusions (may also be given regularly to prevent stroke) Pain medicines Plenty of fluids

Other treatments for sickle cell anemia may include:

Hydroxyurea (Hydrea), a medicine that may help reduce the number of pain episodes (including chest pain and difficulty breathing) in some people Antibiotics to prevent bacterial infections, which are common in children with sickle cell disease

Treatments for complications of sickle cell anemia may include:

Kidney dialysis or kidney transplant for kidney disease Drug rehabilitation and counseling for psychological complications Gallbladder removal in those with gallstone disease Hip replacement for avascular necrosis of the hip Treatments, including surgery, for persistent, painful erections (priapism) Surgery for eye problems Wound care, zinc oxide, or surgery for leg ulcers

Bone marrow or stem cell transplants can cure sickle cell anemia. However, they are current not an option for most patients. Sickle cell anemia patients are often unable to find wellmatched donors. Support Groups Joining a support group where members share common experiences can relieve the stress related to caring for someone with a chronic disease. See: Sickle cell anemia - support group Expectations (prognosis) In the past, sickle cell patients often died from organ failure between ages 20 and 40. Thanks to a better understanding and management of the disease, today, patients can live into their 50s or beyond. Causes of death include organ failure and infection. Some people with the disease experience minor, brief, infrequent episodes. Others experience severe, long-term, frequent episodes with many complications.

Complications

Acute chest syndrome Anemia Blindness/vision impairment Brain and nervous system (neurologic) symptoms and stroke Death Disease of many body systems (kidney, liver, lung) Drug (narcotic) abuse Erectile dysfunction (as a result of priapism) Gallstones Hemolytic crisis Infection, including pneumonia, gallbladder inflammation (cholecystitis), bone infection (osteomyelitis), and urinary tract infection Joint destruction Leg sores (ulcers) Loss of function in the spleen Parvovirus B19 infection, leading to low red blood cell production (aplastic crisis) Splenic sequestration syndrome Tissue death in the kidney

Calling your health care provider Call your health care provider if you have:

Painful crises Any symptoms of infection (fever, body aches, headache, fatigue)

Prevention Sickle cell anemia can only occur when two people who carry sickle cell trait have a child together. Genetic counseling is recommended for all carriers of sickle cell trait. About 1 in 12 African Americans has sickle cell trait. It is possible to diagnose sickle cell anemia during pregnancy. If you have sickle cell anermia, you can prevent the change in red blood cell shape by:

Getting enough fluids Getting enough oxygen Quickly treating infections

Have a physical exam every 3 - 6 months to make sure that you are getting enough nutrition and activity, and that you are receiving the proper vaccinations. Regular eye exams are recommended. PREVENTING CRISES It is important to maintain good oxygen levels and to prevent dehydration. The following steps can help prevent a sickle cell crisis:

Avoid strenous activities, stress, smoking, high-altitudes, nonpressurized flights, and other events that reduce your oxygen level Always have plenty of fluids with you Avoid too much sun exposure

Consider having the child with sickle cell anemia wear a Medic Alert bracelet. Share the above information with teachers and other caretakers, when necessary. PREVENTING INFECTIONS

People with sickle cell anemia need to keep their immunizations up to date to prevent illness. Some patients may receive antibiotics to prevent infections.

RESULTS
Among children and adults with sickle cell anemia (homozygous for sickle hemoglobin), the median age at death was 42 years for males and 48 years for females. Among those with sickle cell-hemoglobin C disease, the median age at death was 60 years for males and 68 years for females. Among adults with sickle cell disease, 18 percent of the deaths occurred in patients with overt organ failure, predominantly renal. Thirty-three percent were clinically free of organ failure but died during an acute sickle crisis (78 percent had pain, the chest syndrome, or both; 22 percent had stroke). Modeling revealed that in patients with sickle cell anemia, the acute chest syndrome, renal failure, seizures, a base-line white-cell count above 15,000 cells per cubic millimeter, and a low level of fetal hemoglobin were associated with an increased risk of early death.

CONCLUSIONS
Fifty percent of patients with sickle cell anemia survived beyond the fifth decade. A large proportion of those who died had no overt chronic organ failure but died during an acute episode of pain, chest syndrome, or stroke. Early mortality was highest among patients whose disease was symptomatic. A high level of fetal hemoglobin predicted improved survival and is probably a reliable childhood forecaster of adult life expectancy.