Desarrollo genéticoEstados UnidosInternacionalSalud

Corrigen en el útero defecto genético de un feto

Por primera vez médicos trataron un feto en el segundo trimestre de desarrollo con células madre de la médula ósea de su mamá. La intención: corregirle un defecto genético grave que le produciría alfa talasemia.

El procedimiento lo hicieron cirujanos pediátricos de la Universidad de California en San Francisco. La bebé, nacida en febrero, se encuentra bien hasta ahora.

Alfa talasemia es un trastorno sanguíneo que reduce la capacidad del organismo de producir glóbulos rojos sanos y hemoglobina normal. Esta es una proteína rica en hierro que se halla en aquellos glóbulos y transporta oxígeno a las células de todo el cuerpo.

Cuando faltan los 4 genes de la alfa globina, la proteína de la hemoglobina afectada por la enfermedad, el feto puede morir en el vientre o poco después de nacer.

Tippi MacKenzie, cirujana del Hospital Benioff de Niños de aquella universidad, condujo el grupo que hizo el trasplante. “Es muy pronto para saber cuán efectivo fue el trasplante de células madre, pero estamos muy alentados por la forma como la madre y la bebé han tolerado el tratamiento”, dijo. “Su nacimiento normal sugiere que la terapia fetal es una opción para ofrecer a familias con este diagnóstico.

La enfermedad se da cuando la persona hereda genes defectuosos de la hemoglobina de ambos padres, no de solo uno.

La bebé, Elianna Constantino, nació el 1 de febrero tras 5 transfusiones de sangre y un trasplante de células madre en el curso de 4 meses. El ensayo comenzó en 2016 para investigar el uso de esas células para tratar la talasemia. La bebé tenía la forma grave, con todos los genes defectuosos.

En el embarazo, una rutina de ultrasonido practicada en Hawai, donde reside la familia, detectó que el feto tenía un corazón alargado, Se requirió transfusión intrauterina para tratar la hinchazón antes de que se pudiera hacer el trasplante de células madre durante una de esas transfusiones.

La talasemia se maneja hoy como enfermedad crónica, según Elliott Vichinsky, hematólogo del hospital quien supervisa el tratamiento. “El trasplante de células madre en el útero es un paso más: una enfermedad que puede ser tratada antes del nacimiento”.

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