Drepanocitosis: reseña de un siglo de investigación

Autores

Francisco Hernández Chavarria

RESUMEN

El objetivo de este trabajo es brindar una visión del desarrollo científico y tecnológico de la anemia falciforme desde su primera descripción a principios del siglo XX hasta los retos actuales. Esta se trata de una enfermedad asociada a una compleja nebulosa de síntomas, cuyo hallazgo patognomónico son los eritrocitos en forma de hoz. La interpretación errónea de los primeros hallazgos condujo a sospechar que se trataba de una enfermedad exclusiva de afrodescendientes y que se transmitía como herencia dominante mendeliana; sin embargo, es recesiva, pero constituye una de las hemoglobinopatías de mayor prevalencia mundial. Descrita en la década de 1940 como la primera enfermedad molecular, causada por una mutación puntual que conduce a la sustitución de un aminoácido en la molécula de globina. Dos de los hallazgos más importantes en esta enfermedad son el tratamiento exitoso de las crisis de dolor empleando hidroxiurea y el hecho de que intervenciones simples, como el consejo genético, la vacunación contra Haemophylus influenzae y la antibióticoterapia preventiva, entre otros, permiten expectativas de vida que exceden los 50 años, y eso es posible cuando se realiza el diagnóstico en el recién nacido, lo que justifica los programas de tamizaje neonatal. Como conclusión, la ciencia médica actualmente tiene como reto la cura de la drepanocitosis, y el trasplante de médula ósea se ha confirmado como una opción real; adicionalmente, es posible que la modificación genética de células madre sea la estrategia futura.

Palabras clave

Hemoglobina S, anemia de células falciformes, drepanocitosis, hemoglobinopatías, tamizaje neonatal.

ABSTRACT

The aim of this paper is to provide a vision of the scientific development of Sickle cell anemia since its early descriptions at the beginning of 20th century to the current challenge. This disease is associated with a complexity of symptoms, in which the sickle-shaped erythrocytes is a pathognomonic laboratory finding. Misinterpretation of the first findings led to suppose that it was exclusively of Afro-descendants and transmitted as a dominant Mendelian inheritance; however, it is recessive, and it is one of the most worldwide prevalent hemoglobinopathies. It was described in the 1940s as the first molecular disease, caused by a punctual mutation leading to a substitution of an amino acid in the globin molecule. The most important findings in this disease are the successful pain relief crises using hydroxyurea, and the fact that simple interventions, such as genetic counseling, vaccination against Haemophylus influenzae, and preventive antibiotic therapy, among others, allows a life expectancy over 50 years. That is possible when the disease is diagnosed in newborns, so, it justifies the neonatal screening programs. As conclusion, the new challenge is the cure and bone marrow transplantation which represent a god option; also, it is possible that genetic modification of stem cells could be a future strategy.

Keywords

Hemoglobin S, sickle cell disease, sickle cell anemia, hemoglobinopathies, neonatal screening.
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