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Sickle Cell Disease

Sickle cell disease and sickle cell crisis:

Sickle cell disease (sickle cell anemia) is a chronic, inherited, incurable but treatable abnormal hemoglobin disease, marked by acute episodes of severe pain, pain that is so severe that treatment with opioids (such as morphine and Demerol) is usually required to provide relief for the extremely severe pain. There are several related abnormal hemoglobin diseases, such as thalassemia, Cooley’s (Mediterranean) anemia, and sickle thalassemia.

Sickle cell disease (sickle cell anemia) is characteristically marked by episodes of sickle cell crisis, in which red cells become sickle-shaped when passing through blood vessels, and then block the passage of other red cells. This sickling can be brought on by dehydration, low oxygen exposure, an unrelated illness, and even hot weather. These crooked cells then block the free flow and passage of other red cells, which worsens the entire situation. The pain experienced has been described as “break-bone pain,” and is a severe pain, usually requiring opioid drugs to bring any manner of relief. Supportive therapy consists of supplemental oxygen and hydration, usually with intravenous fluids as well as oral hydration. Blood transfusion should usually be avoided, as the body will usually conserve the sequestered red cells, and break them down, saving and using the iron in the cells to make new cells (although the new cells will contain the abnormal sickle hemoglobin). Blood transfusion should be assiduously avoided unless it is an exchange transfusion, as otherwise it will result in iron overload and potential hemosiderosis. Hemosiderosis is also commonly known as bronzed diabetes, in which surplus iron is deposited in internal organs (and skin), resulting in abnormal functioning (dysfunction) of the liver, pancreas, and other vital organs. Sickle cell crisis usually requires hospitalization for effective management.

The newborn is protected from sickle cell disease symptoms, with signs only occurring late in the first year, after the disappearance of fetal hemoglobin. Early symptoms of sickle cell disease are hand-foot syndrome, in which there is inflammation and swelling of the hands and feet, occurring as the first sign of sickle cell disease in late infancy. As the child gets older, the classic symptoms of sickle cell disease usually appear, especially if preventive measures are not taken. Such symptoms are similar to those of the adult disease. Preventive measures consist of maintaining adequate hydration (especially in the desert), rigorous administration of childhood immunizations (especially the pneumococcal vaccine), early treatment of respiratory and other infections, and the use of folic acid supplements to aid in the body’s manufacture of the short-lived red cells. In some instances, prophylactic penicillin is administered. It should be noted that red cell life in the sickler may be as few as 20-30 days, as compared to the normal 120 days of the normal red cell in the non-sickler.

Today, most children with sickle cell disease are diagnosed shortly after birth in most states in the USA by use of required newborn screening tests, which include tests for sickle hemoglobin (often still mistakenly called the PKU test, dating back to when that malady was the only condition tested for). Arizona is one of the states which does do universal testing, assuring a diagnosis even in those situations where the sickle gene has not been suspected. Currently, Arizona tests newborns for 26 diseases, which include many genetic diseases, as well as some inborn errors of metabolism. Sickle cell disease is a genetically inherited disease. Sickle cell trait is an asymptomatic carrier state, and a child must have two parents who carry the sickle (or related) gene (sickle cell trait) in order to be able to get sickle cell disease.

The sickle gene is found in peoples who have heritage in the World Malaria Belt. Sickle hemoglobin developed (evolved) as a protection against a particular type of malaria (falciparum malaria), and, through adaptation and evolution, the gene has persisted. While commonly and mistakenly thought that sickle cell disease is only a Black disease, it definitely is not. The abnormal gene (and its related derivatives, such as thalassemia) has been found in the peoples of the Mediterranean, in Arabs, Italians, Sicilians, Greeks, Asians. In Arizona, the newborn prevalence has been: 25% Black, 27% Hispanic, 25% Caucasian, 2% Native American, and 21% Asian and other.

Obstruction of blood vessels may result in strokes (which is completely unpredictable), occlusion of retinal vessels (resulting in blindness), obstruction of blood vessels to bones with actual fractures, or obstruction of vessels to internal organs (splenic sequestration, splenic crisis, splenic atrophy). Obstruction of renal vessels may even result in kidney failure. Although the amount of blood obstructed is usually small, large amounts may sometimes be obstructed and lost to the circulation (splenic sequestration, splenic crisis). Additionally, there may be a crisis in blood manufacture, resulting in a dramatic drop in blood count (an aplastic crisis).

Prevention:

The most effective primary prevention is by parents learning and knowing their own risks of having a child with sickle cell anemia by pre-marital and prenatal testing. The risks of having a child with sickle cell anemia is 1 in 4 with each pregnancy if both parents have sickle cell trait (are sickle cell carriers). Unfortunately, most parents only become aware of their own trait status after they have had a child who has been diagnosed to have sickle cell disease, or sickle cell trait. Sickle trait is entirely asymptomatic, just like cystic fibrosis trait, and is not an illness.

Secondary prevention: In the desert (such as in Arizona) dehydration must be strenuously avoided. Ample hydration should be maintained by high fluid intake, and hydration (both oral and intravenous) should be the initial treatment modality with episodes of sickle cell crisis, while awaiting for the opioid drugs to take effect. Supplemental oxygen administration can sometimes even reverse early red cell sickling. High altitudes (above 5,000 to 7,000 feet) should also be avoided. The person with sickle cell disease does best at altitudes below 2,000 feet. Oxygen may be required in order to fly in a commercial aircraft. Oral medications are newly available to treat iron overload. Because of the high red cell turnover, folic acid supplementation is mandatory. Other good health practices include a good, balanced diet, and avoiding major stress. One should also be careful to avoid “mixing” therapies, as drug interactions may ensue. Just because something may be advertised or promoted as being “natural” does not mean that it is also completely safe.

Drug addiction:

Although drug addiction is certainly possible in persons who have sickle cell disease, this condition is actually relatively uncommon in the person who is suffering with sickle cell disease. Unfortunately, medical personnel often tend to stereotype these clients when they are seen in emergency rooms, and then purposely under-medicating them for fear of violating the Federal Controlled Substances Act and inducing or fostering an addiction. This medical attitude may lead to the sickle cell sufferer purchasing street drugs to relieve the severe pain episodes — and “street-sellers” are known to never ask questions of their purchasers (just “show me the money”). Better care, taking a better medical history, and true empathy by medical staffers is probably the most effective deterrent for this problem. Drugs should not be administered without taking a proper history as to which are the most effective drugs previously utilized, as well as learning those drugs which have been ineffective or which cause allergic or paradoxical reactions.

 

SICKLE CELL ANEMIA SOCIETY OF ARIZONA, Inc.

1818 South Sixteenth Street, Phoenix, Arizona 85034     ph 602.254.5048