Thalassemia Chen Yan

Mu kupambana kwakukulu kwa madokotala ndi odwala omwe akulimbana ndi matenda a sickle cell (SCD) ndi thalassemia, chithandizo cha majini chapamwamba chomwe chimagwiritsa ntchito ukadaulo wa CRISPR/Cas9 chawonetsa kuchuluka kodabwitsa kwa machiritso 100% m'mayesero azachipatala. Chithandizo chatsopanochi chimapereka chiyembekezo chatsopano kwa odwala mamiliyoni ambiri omwe akuvutika ndi matenda ofooketsa magazi awa, omwe kale ankafunika kuikidwa magazi kwa moyo wawo wonse komanso njira zochepa zochizira.

Chitsanzo chodziwika bwino cha kupita patsogolo kumeneku ndi nkhani ya wophunzira wazaka 21 wa ku yunivesite ya Guilin, China, yemwe adapezeka ndi matenda oopsa a beta-thalassemia ali ndi miyezi isanu ndi itatu yokha. Kwa zaka zoposa makumi awiri, moyo wake umadalira kuikidwa magazi pafupipafupi kuti athetse vutoli. Komabe, kuyambitsa chithandizo cha majini chamakono, chomwe chidapangidwa pogwiritsa ntchito nsanja ya ModiHSC®, kunasintha njira yake.

Pa Disembala 8, 2022, wodwalayo adalandira maselo oyambira a hematopoietic omwe adasinthidwa ndi majini omwe adayang'ana ndikukonza kusintha kwa majini komwe kudayambitsa vuto lake. M'miyezi ingapo yotsatira, zizindikiro zake zamagazi, kuphatikiza maselo ofiira amagazi, maselo oyera amagazi, ndi ma platelet, zidabwerera pamlingo wabwinobwino. Pofika pa February 17, 2023, wodwalayo anali atasiya kumwa magazi, zomwe zidapangitsa kuti achire kwathunthu komanso kukhala ndi nthawi yatsopano m'moyo wake.

Mankhwalawa amagwira ntchito posintha BCL11A enhancer m'maselo a hematopoietic stem ndi progenitor a wodwalayo, zomwe zimathandiza kupanga hemoglobin ya fetal (HbF) yokwera. HbF yokwezeka imathandiza kuthana ndi zotsatira zoyipa za sickle hemoglobin (HbS) mwa odwala a SCD ndikuchepetsa zizindikiro mu SCD ndi thalassemia, kuphatikizapo kupewa mavuto a vaso-occlusive komanso kuchepetsa kuchepa kwa magazi m'thupi.

Monga wodwala wamkulu woyamba mu kafukufuku wamankhwalayu, mlandu wake umapereka chiyembekezo kwa odwala ena akuluakulu omwe ali ndi thalassemia yoopsa, ambiri mwa iwo adataya mwayi wopeza machiritso kudzera mu opaleshoni yachikhalidwe ya maselo oyambira chifukwa chosowa wopereka wofanana nawo. Kupambana kwa chithandizochi kukuwonetsa kuthekera kwa chithandizo cha majini kusintha kasamalidwe ka matenda a majini ndikubweretsa mayankho anthawi yayitali komanso ochiritsa kwa odwala padziko lonse lapansi.

Nkhani yoyamba iyi ikuyimira kusintha kwa momwe timayankhira ndi kuchitira zinthu izi, zomwe zikupereka mwayi wokhala ndi moyo woposa kupulumuka—wodzaza ndi mwayi komanso lonjezo la tsogolo labwino.