Sabuwar bege ga masu fama da thalassemia, menene sabon magani?

Wani babban kwararre a fannin kula da cutar thalassaemia ya ce shekarar 2018 na iya kawo sauyi ga maganin wannan cuta mai ratsa jiki da ke shafar jini. Dokta Rabih Hanna, kwararriyar likitan jini a yara, likitan dabbobi da kuma dashen kasusuwa a asibitin Cleveland da ke Amurka, ta ce jerin ci gaban da aka samu a fannin likitanci na baya-bayan nan a fannin maganin kwayoyin halitta yana nufin cewa maganin thalassemia “kusan ana iya isa.”

Bayanin na Dakta Hanna ya zo ne a daidai lokacin da ake bikin ranar Thalassemia ta kasa da kasa, wanda ke gudana a ranar takwas ga watan Mayu na kowace shekara, inda ta tabbatar, bisa ga bayanan binciken da aka buga kwanan nan, cewa maganin "mai yiwuwa ya kasance", la'akari da cewa kwayoyin halitta. Magani ya dau shekaru yana nuni da yiwuwar samar da damar warkewa daga wannan cuta ta kwayoyin halitta, musamman tare da nasarar da aka samu a fagagen kimiyyar asali, ya kuma kara da cewa: “Mun ga cewa ayyukan bincike na farko a wannan fanni suna samun ci gaba mai inganci. hanyoyin jiyya, kuma a cikin 'yan watannin da suka gabata mun shaida ingantaccen bayanan bincike da aka buga daga gwaje-gwajen da aka yi a cikin batutuwan ɗan adam, inda ilimin halittar jini ke aiki, sakamakon ya kasance na dindindin, kuma marasa lafiya ba su da wata illa mai ban tsoro." Dr. Hanna ta bayyana fatansa cewa "a zahiri muna fatan ci gaba tare da ingantaccen tsarin warkewa a nan gaba."

Thalassemia cuta ce ta kwayoyin halitta wacce ke haifar da rashin daidaituwa a cikin haemoglobin cikin jini, wanda shine bangaren jajayen kwayoyin halittar da ke da alhakin jigilar iskar oxygen. Abubuwan da ke haifar da cutar sun hada da anemia, wanda ke haifar da gajiya da kodadde fata, zuwa matsalolin kashi da kuma kara girma. Binciken da aka yi na nauyin tattalin arzikin duniya na thalassemia ya yi kiyasin cewa, akwai kimanin mutane miliyan 280 da suka kamu da cutar a duk duniya, ciki har da kimanin mutane 439,000 da ke fama da matsananciyar nau'in thalassaemia, kuma cutar ta yi sanadiyar mutuwar marasa lafiya 16,800 a shekarar 2015.

Thalassemia ya zama ruwan dare a cikin al'ummomin da ke zaune a Gabas ta Tsakiya, Bahar Rum, Kudancin Asiya da Afirka, kuma galibi ana haɗa su a cikin gwajin kwayoyin halitta kafin aure a wasu daga cikin waɗannan al'ummomin.Maganin da aka fi sani da lokuta masu tsanani shine ƙarin jini akai-akai don rage alamun bayyanar cututtuka. wanda ke dadewa na tsawon lokaci.rayuwa kuma yana da illa. Yayin da kawai maganin warkewa a halin yanzu da ake samu don thalassaemia shine dashen kasusuwa, wanda za'a iya yi akan ƙaramin adadin marasa lafiya.

A cikin wannan mahallin, maganin kwayoyin halitta yana buɗe kofa ga sababbin hanyoyin magance cutar da kuma warkar da cutar, ta hanyar canza sassan tsarin kwayoyin halitta da ke haifar da ita. Marasa lafiya na Thalassemia, a daya daga cikin gwaje-gwajen jiyya na yanzu da ke gudana a cibiyoyi na musamman guda shida a duniya, suna da sel da ba su girma ba wadanda aka ciro daga cikin kasusuwansu. magudanar jini don samun hanyar komawa ga kasusuwan kasusuwa, inda suka balaga suka koma jajayen kwayoyin halittar jini masu samar da haemoglobin lafiya.

Sakamakon, da aka buga a cikin New England Journal of Medicine, ya nuna cewa maganin ya rage yawan ƙarin ƙarin jini da kowane majiyyaci yake buƙata. An kula da marasa lafiya na tsawon wani lokaci wanda a watan Afrilun da ya gabata ya kai watanni 42 tun lokacin da aka fara maganin kwayoyin halitta, yayin da adadin karin jini a lokacin ya ragu da kashi 74 cikin XNUMX a cikin cututtukan cututtuka masu tsanani, yayin da yawancin marasa lafiya da ba su da tsanani. baya dawowa Bukatar karin jini.

Dokta Hanna ta jaddada cewa wadannan ci gaban na likitanci za su dauki lokaci kafin a samu su a matsayin magani, amma ta jaddada cewa abubuwan da suka faru sun kasance a wani lokaci da "nasara a cikin bincike ya zama nasara a cikin magani," la'akari da cewa "yana ba da fata na gaske ga yawancin marasa lafiya. wadanda suke fama da thalassemia a yau."

A gefe guda kuma, wata fasaha mai ban sha'awa wacce yanzu ke motsawa cikin gwaji na ɗan adam ita ce CRISPR, ko kuma a kai a kai ana yin tazarar cluster mai maimaitawa, kayan aiki wanda zai iya canza jerin DNA da canza aikin kwayoyin halitta. Dangane da tsarin tsaro da aka samu a cikin kwayoyin cuta, kayan aikin CRISPR yana shigar da kansa a cikin tsakiya na kwayar halitta kuma ya yanke sashin mara kyau na DNA, maimakon maye gurbin mai lafiya tare da rashin lafiya.

Kamfanin fasahar kere-kere CRISPR Therapeutics kwanan nan ya samu amincewa daga hukumomin da abin ya shafa a Turai don yin amfani da fasahar gyara kwayoyin halitta a wani gwaji na maganin thalassaemia, inda za a canza kwayoyin halitta a dakin gwaje-gwaje sannan a mayar da kwayoyin halittar da aka gyara zuwa jiki ta hanyar karin jini. Wani shiri na daban a Jami'ar Stanford yana ba da shawarar gwajin maganin cutar sikila, cuta ta kwayoyin halitta wacce ke da kamanceceniya da thalassemia, inda ake yin gyare-gyaren kwayoyin halitta a cikin jiki.

Dokta Hanna ta nanata cewa babban maganin da ake samu a halin yanzu, wato ƙarin jini, “mafita ce ta ɗan gajeren lokaci, musamman ga masu fama da cututtuka masu tsanani,” ta nanata cewa ƙarin jini da kansu “yana haifar da matsalolin lafiya cikin lokaci, ganin cewa yawan baƙin ƙarfe a cikin jini yana haifar da faruwar cututtukan zuciya da hanta, cututtuka da ƙasusuwa, wanda ke sa waɗannan illolin su tsawaita lokacin jiyya.” Ya kammala da cewa nasarar rage ƙarin ƙarin jini da ake bukata don a kula da adadin jajayen ƙwayoyin jini da ya dace “ sakamako ne mai kyau ga majiyyaci,” kuma ya ƙara da cewa: “Ra’ayin cewa akwai sabbin jiyya da yawa a sararin sama, ba Jiyya guda ɗaya, yana sa mu fatan samun hanyoyin da za a iya amfani da su don lokuta waɗanda hanyar magani ɗaya ba ta da tasiri."