{"id":159615,"date":"2022-10-05T12:19:41","date_gmt":"2022-10-05T08:19:41","guid":{"rendered":""},"modified":"-0001-11-30T00:00:00","modified_gmt":"-0001-11-29T20:00:00","slug":"","status":"publish","type":"post","link":"https:\/\/ucnoqta.az\/?p=159615","title":{"rendered":"Bir genin mutasiyas\u0131 sintezin pozulmas\u0131na s\u0259b\u0259b ola bil\u0259r"},"content":{"rendered":"

Bu, β-z\u0259ncirind\u0259 ba\u015f ver\u0259rs\u0259, beta-talassemiya ba\u015f verir<\/strong><\/p>\n

Dünyada bir çox ölk\u0259l\u0259r kimi Az\u0259rbaycan talassemiya x\u0259st\u0259liyi üçün endemik ölk\u0259dir. Bel\u0259 ki, talassemiya \u0259sas\u0259n Böyük Qafqaz da\u011flar\u0131n\u0131n c\u0259nub \u0259t\u0259kl\u0259rind\u0259 yerl\u0259\u015f\u0259n \u015e\u0259ki, Zaqatala, Q\u0259b\u0259l\u0259, Quba, Göyçay v\u0259 A\u011fda\u015f rayonlar\u0131nda geni\u015f yay\u0131l\u0131b. Bu \u0259razil\u0259rd\u0259 ya\u015fayan sa\u011flam \u0259halinin aras\u0131nda bu gen da\u015f\u0131y\u0131c\u0131lar\u0131n\u0131n rastg\u0259lm\u0259 tezliyi 20 faizd\u0259n çoxdur.<\/p>\n

X\u0259st\u0259liyin yay\u0131lmas\u0131n\u0131n is\u0259 bir neç\u0259 s\u0259b\u0259bi göst\u0259rilir. "Öt\u0259n \u0259srin ortalar\u0131nda bütün dünyada talassemiya x\u0259st\u0259liyinin tör\u0259nm\u0259 s\u0259b\u0259bl\u0259rini öyr\u0259nm\u0259k m\u0259s\u0259l\u0259si qar\u015f\u0131ya qoyulanda x\u0259st\u0259liyin malyariya epidemiyas\u0131 il\u0259 tutu\u015fdurulmas\u0131 göst\u0259rdi ki, harada malyariya epidemiyas\u0131 az yay\u0131l\u0131b, orada talassemiya geni\u015f yay\u0131l\u0131b. Dünyan\u0131n bir çox qabaqc\u0131l tibb m\u0259rk\u0259zl\u0259rind\u0259 sübut olunub ki, malyariya parazitinin talassemiyal\u0131 x\u0259st\u0259l\u0259rin qan\u0131nda inki\u015faf\u0131 l\u0259ngiyir. \u018fg\u0259r h\u0259r hans\u0131 bir bölg\u0259d\u0259 malyariya tü\u011fyan edirs\u0259, burada talassemiyal\u0131 x\u0259st\u0259l\u0259r adi adamlara nisb\u0259t\u0259n daha çox sa\u011f qal\u0131rlar. Ancaq bu n\u0259z\u0259riyy\u0259 d\u0259 ax\u0131ra q\u0259d\u0259r sübut olunmur".<\/p>\n

Bu bar\u0259d\u0259  Milli Hematologiya v\u0259 Transfuziologiya M\u0259rk\u0259zinin h\u0259kim hematoloqu \u0130rad\u0259 K\u0259rimova deyir. Onun sözl\u0259rin\u0259 gör\u0259, talassemiya da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131n\u0131n geni\u015f yay\u0131lma s\u0259b\u0259bl\u0259rind\u0259n dig\u0259ri d\u0259 Az\u0259rbaycanda qohum evlilikl\u0259rinin, xüsusil\u0259 d\u0259 birinci d\u0259r\u0259c\u0259li qohum evlilikl\u0259rinin geni\u015f yay\u0131lmas\u0131d\u0131r. “Qohum evlilikl\u0259ri n\u0259inki talassemiya kimi a\u011f\u0131r x\u0259st\u0259liyin h\u0259m d\u0259 dig\u0259r irsi x\u0259st\u0259likl\u0259rin yaranmas\u0131na s\u0259b\u0259b olur. Ona gör\u0259 d\u0259 bu x\u0259st\u0259liyin qar\u015f\u0131s\u0131n\u0131 almaq üçün bir m\u0259nali \u015f\u0259kild\u0259 qohum evlilikl\u0259ri d\u0259 azald\u0131lmal\u0131d\u0131r.<\/p>\n

Talassemiya da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131n\u0131n v\u0259 talassemiyal\u0131 x\u0259st\u0259 u\u015fa\u011f\u0131n do\u011fulmas\u0131n\u0131n qar\u015f\u0131s\u0131n\u0131 almaq üçün m\u0259kt\u0259bl\u0259rd\u0259, universitetl\u0259rd\u0259, i\u015f yerl\u0259rind\u0259, televiziya proqramlar\u0131nda insanlar\u0131 maarifl\u0259ndirm\u0259 i\u015fl\u0259ri apar\u0131lmal\u0131d\u0131r”,- o deyir.<\/p>\n

\u0130rad\u0259 K\u0259rimova bildirir ki, talessemiya valideyinl\u0259rd\u0259n genetik olaraq keç\u0259n, qanda hemaqlobin adl\u0131 madd\u0259nin yaranmas\u0131na t\u0259sir ed\u0259n genetik bir x\u0259st\u0259likdir. Hemoqlobin is\u0259 q\u0131rm\u0131z\u0131 qan hüceyr\u0259l\u0259rinin üz\u0259rind\u0259 olan, oksigeni da\u015f\u0131yan xüsusi qrulu\u015flu bir madd\u0259dir. Hemaqlobin t\u0259rkibind\u0259 d\u0259mir v\u0259 qlobulin adlanan zülali qurulu\u015fdan ibar\u0259tdir. Qlobulinl\u0259r alfa v\u0259 beta z\u0259ncirl\u0259rind\u0259n t\u0259\u015fkil olunub.Talassemiya zaman\u0131 \u0259sas problem hemoqlobinin zülal hiss\u0259sini meydana g\u0259tir\u0259n qlobulin z\u0259ncirind\u0259dir. Yeti\u015fkin bir \u015f\u0259xsd\u0259 98 faiz nisb\u0259tind\u0259 hemaqlobin A olur. Hemoqlobin molekulu iki cüt proteind\u0259n (z\u0259ncirl\u0259r) ibar\u0259tdir: iki alfa (α) v\u0259 iki beta (β) z\u0259ncirl\u0259ri. Hemoqlobinin düzgün f\u0259aliyy\u0259ti üçün z\u0259ncirl\u0259rin dördünün d\u0259 olmas\u0131 z\u0259ruridir. <\/p>\n

Talassemiya da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131 nec\u0259 t\u0259yin edilir?<\/strong><\/p>\n

Göründüyü kimi hemoqlobinin t\u0259rkibind\u0259 alfa v\u0259 beta protein z\u0259ncirl\u0259ri var. Bir genin mutasiyas\u0131 sintezin pozulmas\u0131na s\u0259b\u0259b ola bil\u0259r. Bu, β-z\u0259ncirind\u0259 ba\u015f ver\u0259rs\u0259, beta-talassemiya ba\u015f verir. \u0130rad\u0259 K\u0259rimovan\u0131n sözl\u0259rin\u0259 gör\u0259, beta talassemiyas\u0131 olan insanlarda β-z\u0259ncirl\u0259ri natamam v\u0259 ya heç olmad\u0131\u011f\u0131ndan sümük iliyi kifay\u0259t q\u0259d\u0259r hemoqlobin istehsal ed\u0259 bilmir. Bu da qan azl\u0131\u011f\u0131na g\u0259tirir v\u0259 n\u0259tic\u0259d\u0259 qan hüceyr\u0259l\u0259ri orqanizm\u0259 laz\u0131mi q\u0259d\u0259r oksigen çatd\u0131rmaq iqtidar\u0131nda olmur. Bu da öz növb\u0259sind\u0259 bir neç\u0259 formaya malikdir – kiçik, orta v\u0259 böyük. Sonuncu \u0259n t\u0259hlük\u0259li hesab olunur, x\u0259st\u0259liyin geni h\u0259r iki valideynd\u0259n al\u0131n\u0131r, çünki b\u0259d\u0259nin geri dönm\u0259z pozulmas\u0131na s\u0259b\u0259b olur v\u0259 ölüml\u0259 n\u0259tic\u0259l\u0259n\u0259 bil\u0259r. Klinik t\u0259zahürl\u0259rin proqnozu v\u0259 \u015fidd\u0259ti d\u0259 x\u0259st\u0259liyin d\u0259r\u0259c\u0259sind\u0259n as\u0131l\u0131d\u0131r. Beta talassemiyan\u0131n s\u0259b\u0259bi bir v\u0259 ya iki valideynd\u0259n miras qalm\u0131\u015f qüsurlu gen adlan\u0131r.<\/p>\n

X\u0259st\u0259liyin genini bir valideynd\u0259n alan insan is\u0259 talassemiyan\u0131n da\u015f\u0131y\u0131c\u0131s\u0131 ola bil\u0259r. Bel\u0259likl\u0259, beta talassemiya gen da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131 ana v\u0259 ya atadan u\u015fa\u011fa irs\u0259n ötürülür<\/p>\n

U\u015faqlarda beta talassemiyan\u0131n \u0259lam\u0259tl\u0259ri<\/strong><\/p>\n

Talassemiya irsi x\u0259st\u0259likdir, buna gör\u0259 d\u0259 art\u0131q patoloji hallar\u0131 olan v\u0259 ya h\u0259r iki valideyn yanl\u0131\u015f genin da\u015f\u0131y\u0131c\u0131s\u0131 olan ail\u0259l\u0259rd\u0259 onun inki\u015faf riski daha yüks\u0259kdir. Beta-talassemiya \u0259sas\u0259n Aral\u0131q d\u0259nizi, C\u0259nubi Asiya ölk\u0259l\u0259ri, \u015eimali Afrika, Hindistan v\u0259 Yax\u0131n \u015e\u0259rq ölk\u0259l\u0259rinin sakinl\u0259rin\u0259 t\u0259sir göst\u0259rir. Patologiyan\u0131n ba\u015f verm\u0259sinin t\u0259xmini tezliyi yüz min\u0259 birdir.<\/p>\n

Talassemiya anemiya il\u0259 mü\u015fayi\u0259t olunan eyni ümumi simptomlarla xarakteriz\u0259 olunur, lakin daha spesifik simptomlar x\u0259st\u0259liyin formas\u0131n\u0131n \u015fidd\u0259tind\u0259n, u\u015fa\u011f\u0131n ya\u015f\u0131ndan as\u0131l\u0131d\u0131r. Valideynl\u0259r diqq\u0259tli olmal\u0131 v\u0259 a\u015fa\u011f\u0131dak\u0131 simptomlar görüns\u0259, u\u015fa\u011f\u0131 h\u0259kim\u0259 göst\u0259rm\u0259lidir: anemiya, ayaqlarda xoralar, d\u0259rinin, selikli qi\u015falar\u0131n sar\u0131l\u0131\u011f\u0131 v\u0259 ya sol\u011funlu\u011fu, ür\u0259k çat\u0131\u015fmazl\u0131\u011f\u0131, patoloji q\u0131r\u0131qlar, ba\u015fgic\u0259ll\u0259nm\u0259, n\u0259f\u0259s darl\u0131\u011f\u0131, böyüm\u0259nin v\u0259 cinsi inki\u015faf\u0131n geçikm\u0259si, sidiyin tündl\u0259\u015fm\u0259si, sümük deformasiyalar\u0131, qaraciy\u0259rin, dala\u011f\u0131n böyüm\u0259si s\u0259b\u0259bind\u0259n böyük qar\u0131n, infeksiyalara qar\u015f\u0131 h\u0259ssasl\u0131q, \u0259qli gerilik, aritmiya. H\u0259mçinin, beta-talassemiyal\u0131 u\u015faqlarda sümük iliyinin hiperplaziyas\u0131 n\u0259tic\u0259sind\u0259 k\u0259ll\u0259 formas\u0131n\u0131n d\u0259yi\u015fm\u0259si mü\u015fahid\u0259 oluna bil\u0259r. Burun kökünd\u0259 bas\u0131ql\u0131q, yuxar\u0131 ç\u0259n\u0259d\u0259 ön\u0259 ç\u0131xma, di\u015fl\u0259r h\u0259r\u0259k\u0259t edir, ba\u015f kvadrat forma al\u0131r.<\/p>\n

U\u015faqlarda beta talassemiya nec\u0259 müalic\u0259 olunur?<\/strong><\/p>\n

Müayin\u0259nin düzgün v\u0259 s\u0259m\u0259r\u0259li apar\u0131lmas\u0131 çox ön\u0259mlidir. Anemiyan\u0131 a\u015fkar etm\u0259k v\u0259 hemoglobinin strukturunu qiym\u0259tl\u0259ndirm\u0259k üçün laboratoriya testl\u0259ri apar\u0131l\u0131r. Mü\u0259yy\u0259n bir genetik qüsuru a\u015fkar etm\u0259k m\u0259qs\u0259dil\u0259 sümük toxumas\u0131n\u0131n rentgenoqrafiyas\u0131, genetik analizi vacibdir. Sümük toxumas\u0131n\u0131n molekulyar t\u0259dqiqi üçün sümük iliyini de\u015fm\u0259k mümkündür. Laz\u0131m olan sümük toxumas\u0131n\u0131n rentgenoqrafiyas\u0131d\u0131r, genetik analizdir, m\u0259qs\u0259di mü\u0259yy\u0259n bir genetik qüsuru a\u015fkar etm\u0259kdir. Müalic\u0259 ad\u0259t\u0259n müasir üsullar kompleksind\u0259n ibar\u0259tdir: Qan v\u0259 ya q\u0131rm\u0131z\u0131 qan hüceyr\u0259l\u0259rinin köçürülm\u0259si. Bel\u0259 bir prosedur münt\u0259z\u0259m olaraq apar\u0131lmal\u0131d\u0131r – \u0259n az\u0131 iki ayda bir d\u0259f\u0259, hemoglobini normal s\u0259viyy\u0259d\u0259 saxlamaq üçün.<\/p>\n

Tez-tez qan köçürülm\u0259si s\u0259b\u0259bind\u0259n is\u0259 b\u0259d\u0259nd\u0259 art\u0131q miqdarda d\u0259mir toplan\u0131r v\u0259 onu ç\u0131xarmaq üçün x\u0259st\u0259l\u0259r mü\u0259yy\u0259n d\u0259rmanlar q\u0259bul etm\u0259lidirl\u0259r.<\/p>\n

Dala\u011f\u0131n böyüm\u0259si  v\u0259 onda ba\u015f ver\u0259n da\u011f\u0131d\u0131c\u0131 prosesl\u0259r s\u0259b\u0259bind\u0259n onun ç\u0131xar\u0131lmas\u0131 h\u0259yata keçirilir. Sümük iliyinin transplantasiyas\u0131 is\u0259 qan \u0259m\u0259l\u0259 g\u0259lm\u0259sini normalla\u015fd\u0131rma\u011fa köm\u0259k edir. \u018fn yax\u015f\u0131 halda x\u0259st\u0259 u\u015fa\u011f\u0131n yax\u0131n qohumlar\u0131 donor olurlar. Uy\u011fun donor tap\u0131lmasa, ç\u0259tinlikl\u0259r v\u0259 h\u0259yat üçün risk var.<\/p>\n

Cart terapiyas\u0131 hematoloji patologiyan\u0131n müt\u0259r\u0259qqi yoludur<\/strong><\/p>\n

Bir s\u0131ra testl\u0259rd\u0259n sonra bu yax\u0131nlarda tibbd\u0259 yenilikçi bir üsul ortaya ç\u0131x\u0131b. Bu usul Cart terapiya adlan\u0131r. Ciddi m\u0259nfi reaksiyalar olmad\u0131qda Cart terapiya heyr\u0259tamiz d\u0259r\u0259c\u0259d\u0259 yüks\u0259k effektivlik nümayi\u015f etdirir. U\u015fa\u011f\u0131n b\u0259d\u0259ni sakit v\u0259 t\u0259bii olaraq müalic\u0259ni q\u0259bul edir. Onun mahiyy\u0259ti u\u015fa\u011f\u0131n öz immun sisteminin xarici strukturlara, y\u0259ni anormal hüceyr\u0259l\u0259r\u0259 da\u011f\u0131d\u0131c\u0131 t\u0259siridir. F\u0259rdi müalic\u0259nin ilkin m\u0259rh\u0259l\u0259sind\u0259 x\u0259st\u0259d\u0259n qan götürülür v\u0259 unikal texnologiyadan istifad\u0259 ed\u0259r\u0259k komponentl\u0259r\u0259 ayr\u0131l\u0131r. Sonra immun prosesl\u0259rind\u0259 i\u015ftirak ed\u0259n laz\u0131mi miqdarda lenfositl\u0259r al\u0131n\u0131r. T-hüceyr\u0259l\u0259ri genetik modifikasiya üçün laboratoriyaya gönd\u0259rilir. Limfositl\u0259rin çoxalmas\u0131 bir neç\u0259 h\u0259ft\u0259 ç\u0259kir, bundan sonra antigen tan\u0131yan T- hüceyr\u0259l\u0259ri yenid\u0259n x\u0259st\u0259nin b\u0259d\u0259nin\u0259 köçürülür. Anormal elementl\u0259ri m\u0259hv etm\u0259k üçün proqramla\u015fd\u0131r\u0131lm\u0131\u015f T- hüceyr\u0259l\u0259ri onlar\u0131 mü\u0259yy\u0259n edir v\u0259 z\u0259r\u0259rsizl\u0259\u015fdirir.<\/p>\n

Dünyan\u0131n \u0259n bahal\u0131 d\u0259rman\u0131<\/strong><\/p>\n

Avqustun 17-d\u0259 AB\u015e Qida v\u0259 D\u0259rmanlara n\u0259zar\u0259t \u0130dar\u0259si (FDA) böyükl\u0259rd\u0259 beta-talassemiyan\u0131n gen terapiyas\u0131 üçün n\u0259z\u0259rd\u0259 tutulan Bluebird Bio-nun Zynteglo (betibeglogene autotemcel) d\u0259rman\u0131n\u0131 t\u0259sdiql\u0259yib. D\u0259rman\u0131n bir paketinin qiym\u0259tinin 2,8 milyon dollar olaca\u011f\u0131 gözl\u0259nilir. Bu dünyada d\u0259rman üçün \u0259n yüks\u0259k qiym\u0259tdir.  Haz\u0131rda \u0259n bahal\u0131 d\u0259rman kür\u0259k \u0259z\u0259l\u0259l\u0259rinin atrofiyas\u0131n\u0131n müalic\u0259si üçün n\u0259z\u0259rd\u0259 tutulan Zolgensma d\u0259rman\u0131d\u0131r. Bu d\u0259rman\u0131n qiym\u0259ti 2,1 milyon dollard\u0131r.<\/p>\n

Pünhan \u018ff\u0259ndiyev<\/strong><\/p>\n

Yaz\u0131 "Leykozlu U\u015faqlara D\u0259st\u0259k" ictimai birliyinin Az\u0259rbaycan Respublikas\u0131n\u0131n Qeyri-Hökum\u0259t T\u0259\u015fkilatlar\u0131na Dövl\u0259t D\u0259st\u0259yi Agentliyinin maliyy\u0259 yard\u0131m\u0131 il\u0259 “Regionlarda talassemiya v\u0259 qan donorlu\u011fu bar\u0259d\u0259 maarifl\u0259ndirm\u0259” layih\u0259si ç\u0259rçiv\u0259sind\u0259 haz\u0131rlanm\u0131\u015fd\u0131r.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Bu, β-z\u0259ncirind\u0259 ba\u015f ver\u0259rs\u0259, beta-talassemiya ba\u015f verir Dünyada bir çox ölk\u0259l\u0259r kimi Az\u0259rbaycan talassemiya x\u0259st\u0259liyi üçün endemik ölk\u0259dir. Bel\u0259 ki, talassemiya \u0259sas\u0259n Böyük Qafqaz da\u011flar\u0131n\u0131n c\u0259nub \u0259t\u0259kl\u0259rind\u0259 yerl\u0259\u015f\u0259n \u015e\u0259ki, Zaqatala,…<\/p>\n","protected":false},"author":1,"featured_media":251278,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[108],"tags":[],"class_list":["post-159615","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-leykoz"],"_links":{"self":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts\/159615","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=159615"}],"version-history":[{"count":0,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts\/159615\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/media\/251278"}],"wp:attachment":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=159615"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=159615"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=159615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}