Anemia drepanocítica o de células falciformes
Rasgo drepanocítico
Las personas que heredan un gen de las células drepanocíticas (falciformes) y un gen normal tienen el "rasgo" drepanocítico. Las personas con este rasgo por lo general no presentan síntomas, pero pueden pasarles la enfermedad a sus hijos.
Diagnóstico
El rasgo drepanocítico se diagnostica con un simple análisis de sangre. Las personas que tienen riesgo de presentar rasgo drepanocítico pueden preguntar a un médico o a un centro de salud si les deben hacer esta prueba.
Complicaciones
Es posible que una persona con rasgo drepanocítico sufra las complicaciones de la anemia drepanocítica, como secuestro esplénico, "crisis dolorosas" y, muy inusualmente, la muerte repentina.
Esto puede ocurrir bajo condiciones extremas de:
- Gran altitud (durante un vuelo en avión, al escalar montañas o en ciudades ubicadas a grandes altitudes).
- Aumento de la presión (durante actividades de buceo).
- Poco oxígeno (al escalar montañas o hacer ejercicios físicos extenuantes, al estilo de los campamentos militares o en entrenamientos para competencias deportivas).
- Deshidratación (poca agua en el organismo).
Embarazo
Las mujeres que presentan rasgo drepanocítico pueden tener un embarazo saludable.
La anemia drepanocítica es una enfermedad "recesiva", lo que significa que ambos padres deben pasar el gen de las células drepanocíticas a su hijo para que este nazca con la enfermedad. Un consejero genético (en inglés) puede proporcionar información sobre la probabilidad de pasar la enfermedad al bebé.
Existe una prueba que se puede realizar durante el embarazo para determinar si el bebé tendrá anemia drepanocítica, rasgo drepanocítico o ninguno. Esta prueba suele hacerse después del segundo mes de embarazo.
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- Although African Americans are most likely to carry sickle cell trait, people ofevery racial and ethnic group can have the condition.
- Sickle cell trait and disease can be passed on to children [PDF-2.8MB]; find outwhere to get screening and genetic counseling.
- You can find information about sickle cell trait and sports, diabetes testing, blood and organ donation, and more in theSickle Cell Trait Toolkit.
Sickle Cell Trait
Resources
People who inherit one sickle cell gene and one normal gene have sickle cell trait (SCT). People with SCT usually do not have any of the symptoms of sickle cell disease (SCD), but they can pass the trait on to their children.
How Sickle Cell Trait is Inherited
- If both parents have SCT, there is a 50% (or 1 in 2) chance that any child of theirs also will have SCT, if the child inherits the sickle cell gene from one of the parents. Such children will not have symptoms of SCD, but they can pass SCT on to their children.
- If both parents have SCT, there is a 25% (or 1 in 4) chance that any child of t heirs will have SCD. There is the same 25% (or 1 in 4) chance that the child will not have SCD or SCT.
- If one parent has SCT, there is a 50% (or 1 in 2) chance that any child of this parent will have SCT and an equal 50% chance that the child will not have SCT.
Diagnosis
SCT is diagnosed with a simple blood test. People at risk of having SCT can talk with a doctor or health clinic about getting this test.
Complications
Most people with SCT do not have any symptoms of SCD, although—in rare cases—people with SCT might experience complications of SCD, such as pain crises.
In their extreme form, and in rare cases, the following conditions could be harmful for people with SCT:
- Increased pressure in the atmosphere (which can be experienced, for example, while scuba diving).
- Low oxygen levels in the air (which can be experienced, for example, when mountain climbing, exercising extremely hard in military boot camp, or training for an athletic competition).
- Dehydration (for example, when one has too little water in the body).
- High altitudes (which can be experienced, for example, when flying, mountain climbing, or visiting a city at a high altitude).
More research is needed to find out why some people with SCT have complications and others do not.
SCT and Athletes
Some people with SCT have been shown to be more likely than those without SCT to experience heat stroke and muscle breakdown when doing intense exercise, such as competitive sports or military training under unfavorable temperatures( very high or low) or conditions.
Studies have shown that the chance of this problem can be reduced by avoiding dehydration and getting too hot during training.
People with SCT who participate in competitive or team sports (i.e. student athletes) should be careful when doing training or conditioning activities. To prevent illness it is important to:
- Set your own pace and build your intensity slowly.
- Rest often in between repetitive sets and drills.
- Drink plenty of water before, during and after training and conditioning activities.
- Keep the body temperature cool when exercising in hot and humid temperatures by misting the body with water or going to an air conditioned area during breaks or rest periods.
- Immediately seek medical care when feeling ill.
Recommendations on Screening of Student Athletes for SCT
Recommendations of the Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to the Secretary, U.S. Department of Health and Human Services on Screening of Student Athletes for Sickle Cell Trait.
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