DIAGNOSIS How is Sickle Cell Disease diagnosed? The person with Sickle Cell Disease will have the characteristic symptoms of anemia; he will be tired and weak. In addition he will suffer with episodes of mild to severe pain. Special examination of the blood will reveal the sickled red cells and Hemoglobin S. How is Sickle Cell Trait diagnosed? Usually the person with Sickle Cell Trait, that is, the carrier, does not suffer How is G6PD Deficiency diagnosed? The person with G6PD Deficiency will be unnoticeable until he is exposed to certain drugs. When this occurs he will undergo a hemolytic crisis and suffer the symptoms characteristic of hemolytic anemias. (See above). Special examination of the blood will reveal the lack of the crucial enzyme Glucose 6-Phosphate Dehydrogenase. How is the carrier of G6PD Deficiency found? If a female has an affected brother one should suspect her of being a carrier since her mother is a carrier. Chemical examination of her blood will reveal whether or not she is a carrier of the defect. TREATMENT How is the person with Sickle Cell Disease treated? THERE IS NO CURE FOR SICKLE CELL ANEMIA! Treatment consists of relieving the pain of a "crisis" with pain-killers and adequate hydration to loosen the jammed sickled cells from the blood vessels. Blood transfusions are sometimes needed. However, transfusions provide only temporary relief and can be dangerous. Therefore, transfusions should be given with caution. Can SCA Crisis be prevented? NO! At the present time there is no known treatment which will prevent the occurence of SCA Crisis. What about Urea? Recently the newspapers and other portions of the media informed the public about a new revolutionary cure for SCA; the use of Urea to relieve the symptoms of SCA Crisis was heralded as the ultimate form of therapy. Even though the urea treatment or modifications of it provide a promising future approach to the problem it is still in the experimental stage. Thus, the urea treatment should be regarded with caution until more is known. How is the person with G6PD Deficiency treated? When the person with G6PD Deficiency is exposed to one of the drugs that causes MORE FACTS ABOUT THE PERSON WITH SCA AND G6PD DEFICIENCY How is the person with SCD different from others? The teenager with SCD may not be as well developed physically or as sexually mature as the normal person his age. For example, the onset of menstruation is usually delayed in the female with SCD. The child with SCD is more prone to infection than the normal child. This is a major disadvantage because infections such as the common cold can cause a "crisis". The woman with SCD will encounter more difficulties with pregnancies than the normal female. The anemia becomes worse during pregnancy. These women experience more stillbirths, premature infants and miscarriages than the normal female. The person with SCD should avoid high altitudes and extreme physical exertion. Airplane travel should be limited to pressurized aircraft* and physical exercise, although not eliminated, should be limited to avoid causing crisis. There is no visual difference between the normal individual and the carrier of Sickle Cell Trait. The only difference is the presence of the abnormal sickled cells in the blood of the carrier. The carrier under certain circumstances, however, may have crises similar to the person with Sickle Cell Disease. Cases of death occuring as the result of exposure to high altitude and extreme exercise have recently been reported. Such cases have been regarded as rare; however, they may be more common than we realize. The carrier may also be more susceptible to kidney disease then the normal person. Life Expectancy of the person with SCD The person with Sickle Cell Disease who survives childhood may be able to lead Life Expectancy of the person with Sickle Cell Trait The person with Sickle Cell Trait seems to have the same life expectancy as * All commercial airplanes (TWA, UNITED AIRLINES, etc.) are pressurized. + SCD = Sickle Cell Disease How is the person with G6PD Deficiency different from the normal individual? The individual with G6PD Deficiency is usually indistinguishable from the normal individual until he is exposed to the drugs causing hemolysis of the defective red cells. However, the defect can be detected by testing the blood. The affected person may also be color-blind. Color-blindness and G6PD Deficiency seem to be inherited together. How is the carrier of G6PD Deficiency different from the normal individual? The carrier can only be distinguished from normal by chemical tests of the blood. Life Expectancy of persons with G6PD Deficiency Some have suggested that the affected person has a shorter life expectancy than normal. This conclusion is based on studies of the general Black population showing lower numbers of older males with G6PD Deficiency as compared to the number of young males with the defect. This conclusion is still open to question. Even less can be said about the life expectancy of the carrier. ORIGIN OF SICKLE CELL ANEMIA AND G6PD DEFICIENCY Blacks living in the malaria belts of Africa, particularly Eastern, Western and Central Africa have for centuries been exposed to malaria. Malaria is an infection caused by a parasite that destroys the red blood cells. There is evidence to indicate that African individuals carrying sickled cells and/or having decreased amounts of the enzyme G6PD in their red blood cells are more resistant to malaria. Thus, as a process of natural selection (only the strong survive), Blacks came to bear these red blood cells which provided protection against a dreaded and deadly parasite. When Blacks were imported by the American Slave System to America where malaria is virtually non-existent the advantage of having Sickle Cell Trait or Glucose 6-Phosphate Dehydrogenase Deficiency was eliminated and an asset became a liability. |