{"id":160063,"date":"2022-10-11T12:21:33","date_gmt":"2022-10-11T08:21:33","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=160063","title":{"rendered":"Talassemiya<\/b><\/font> – simptomlar\u0131, m\u00fcalic\u0259si"},"content":{"rendered":"

Hemoqlobin genl\u0259rind\u0259 mutasiya mü\u0259yy\u0259n bir növ z\u0259ncir sintezinin pozulmas\u0131na s\u0259b\u0259b olur<\/strong><\/p>\n

Talassemiya dünyada \u0259n çox yay\u0131lm\u0131\u015f irsi v\u0259ziyy\u0259tl\u0259rd\u0259n biridir. Az\u0259rbaycanda da talassemiya ba\u015fqa irsi x\u0259st\u0259likl\u0259rl\u0259 müqayis\u0259d\u0259 geni\u015f yay\u0131lm\u0131\u015f v\u0259 ild\u0259n-il\u0259 artmaqdad\u0131r. X\u0259st\u0259liyin s\u0259b\u0259bi is\u0259 orqanizmd\u0259 anormal hemoqlobin formas\u0131n\u0131n hasil edilm\u0259sidir. Yetkinl\u0259rd\u0259 hemoqlobin 4 elementin birl\u0259\u015fm\u0259sind\u0259n yaran\u0131r.  Onlarda dominant hemoqlobin -hemoqlobin A (97 faiz) 2 alfa v\u0259 2 beta z\u0259ncirl\u0259rind\u0259n ibar\u0259tdir. Qamma (γ) v\u0259 delta (δ) z\u0259nçirl\u0259ri d\u0259 var ki, normal qan\u0131n kiçik bir hiss\u0259sini t\u0259\u015fkil edirl\u0259r. Normal qan\u0131n kiçik bir hiss\u0259sini t\u0259\u015fkil ed\u0259n 2 alfa v\u0259 2 qamma-z\u0259ncirl\u0259rd\u0259n ibar\u0259t olan hemoqlobin F (fetal) v\u0259 2 alfa v\u0259 2 delta z\u0259ncirl\u0259rind\u0259n ibar\u0259t olan hemoqlobin A2 adlan\u0131r.<\/p>\n

Hemoqlobin genl\u0259rind\u0259 mutasiyan\u0131n olmas\u0131 mü\u0259yy\u0259n bir növ z\u0259ncir sintezinin pozulmas\u0131na s\u0259b\u0259b ola bil\u0259r. Bel\u0259likl\u0259, talassemiya \u0259n az\u0131 bir qlobin polipeptid z\u0259ncirinin (beta, alfa, qamma, delta) sintezinin azalmas\u0131 n\u0259tic\u0259sind\u0259 yaranan balanss\u0131z hemoglobin sintezinin n\u0259tic\u0259sidir. M\u0259s\u0259l\u0259n, α- z\u0259ncirinin sintezinin pozulmas\u0131 alfa-talassemiya, β- z\u0259ncirinin sintezinin pozulmas\u0131 beta-talassemiya kimi tan\u0131nan klinik x\u0259st\u0259liy\u0259 s\u0259b\u0259b olur.<\/p>\n

Talasemiyan\u0131 n\u0259 yarad\u0131r?<\/strong><\/p>\n

\u0130nsan hüceyr\u0259sinin genl\u0259rind\u0259 b\u0259d\u0259nin normal funksiyas\u0131n\u0131 t\u0259yin etm\u0259k üçün informasiya olur. Hemoqlobin zülal\u0131na aid olan informasiya iki müxt\u0259lif gend\u0259 da\u015f\u0131n\u0131r. α z\u0259nciri 16-c\u0131 gend\u0259, β z\u0259nciri is\u0259 11-ci gend\u0259 yerl\u0259\u015fir. H\u0259r insan\u0131n α v\u0259 β genl\u0259rind\u0259n iki \u0259d\u0259d olur. Bu z\u0259ncirl\u0259rin yaranmas\u0131ndak\u0131 patologiyalar talassemiya x\u0259st\u0259liyin\u0259  s\u0259b\u0259b olur. Alfa z\u0259ncirind\u0259ki \u0259ksiklikl\u0259r alfa, beta z\u0259ncirind\u0259ki azalmalar beta talassemiyalar olaraq adland\u0131r\u0131l\u0131r. Meydana g\u0259l\u0259n anormal hemaqlobin molekullar\u0131, oksigen da\u015f\u0131ma funksiyas\u0131n\u0131 h\u0259yata keçir\u0259 bilm\u0259diyind\u0259n v\u0259 normal eritrosit formala\u015fa bilm\u0259diyind\u0259n anemiyaya s\u0259b\u0259b olur.<\/p>\n

Alfa talassemiyan\u0131n \u0259n çox görün\u0259n simptonlar\u0131:<\/p>\n

– yor\u011funluq, z\u0259iflik v\u0259 ya n\u0259f\u0259s darl\u0131\u011f\u0131.<\/p>\n

– sol\u011fun bir görünü\u015f v\u0259 ya d\u0259rid\u0259 sar\u0131 r\u0259ng.<\/p>\n

– q\u0131c\u0131qlanmaq.<\/p>\n

– üz sümükl\u0259rinin deformasiyas\u0131.<\/p>\n

– inki\u015fafdan qalma<\/p>\n

– \u015fi\u015flmi\u015f qar\u0131n.<\/p>\n

– tünd sidik.<\/p>\n

Alfa talassemiya<\/strong><\/p>\n

Alfa talassemiya hemoglobin istehsal\u0131n\u0131n azald\u0131\u011f\u0131 bir qan x\u0259st\u0259liyidir. Hemoqlobin q\u0131rm\u0131z\u0131 qan hüceyr\u0259l\u0259rind\u0259 oksigeni bütün b\u0259d\u0259n hüceyr\u0259l\u0259rin\u0259 da\u015f\u0131yan bir proteindir. Alfa talassemiyan\u0131n xarakterik \u0259lam\u0259tl\u0259ri olan insanlarda hemoqlobinin azalmas\u0131 orqanizmin toxumalar\u0131na kifay\u0259t q\u0259d\u0259r oksigenin daxil olmas\u0131na mane olur. T\u0259sir\u0259 m\u0259ruz qalanlarda h\u0259mçinin q\u0131rm\u0131z\u0131 qan hüceyr\u0259l\u0259rinin çat\u0131\u015fmazl\u0131\u011f\u0131 (anemiya) var ki, bu da sol\u011fun d\u0259ri, z\u0259iflik, yor\u011funluq v\u0259 daha ciddi f\u0259sadlara s\u0259b\u0259b ola bil\u0259r.<\/p>\n

Qeyud etdiyimiz kimi alfa talassemiya bir v\u0259 ya bir neç\u0259 alfa z\u0259nciri geninin silinm\u0259si n\u0259tic\u0259sind\u0259 alfa polipeptid z\u0259ncirl\u0259rinin sintezinin azalmas\u0131n\u0131n n\u0259tic\u0259sidir. \u0130nsanlar ad\u0259t\u0259n dörd alfa z\u0259nciri geni olur v\u0259 insanda 16- c\u0131 xromosomda meydana g\u0259lir. H\u0259r iki valideyind\u0259n körp\u0259y\u0259 c\u0259mi 2 cüt gen keçir.<\/p>\n

1.(aa\/a-). Bu genl\u0259rd\u0259n bir d\u0259n\u0259sinin \u0259ksik olmas\u0131 s\u0259ssiz da\u015f\u0131y\u0131c\u0131 adlan\u0131r. H\u0259r hans\u0131 \u015fikay\u0259t v\u0259 \u0259lam\u0259t olmur. Burada bir gen \u0259skik v\u0259 ya z\u0259d\u0259l\u0259nmi\u015f, dig\u0259r 3 gen normald\u0131r. Qan testl\u0259ri ad\u0259t\u0259n normald\u0131r. Q\u0131rm\u0131z\u0131 qan hüceyr\u0259l\u0259ri normaldan daha kiçik ola bil\u0259r. S\u0259ssiz da\u015f\u0131y\u0131c\u0131 olmaq o dem\u0259kdir ki, sizd\u0259 x\u0259st\u0259lik \u0259lam\u0259tl\u0259ri yoxdur, ancaq z\u0259d\u0259l\u0259nmi\u015f geni u\u015fa\u011f\u0131n\u0131za ötürül\u0259 bil\u0259r. Bu, DNT testl\u0259ri il\u0259 t\u0259sdiql\u0259nir.<\/p>\n

2.(a-\/a-). Bu genl\u0259rd\u0259n ikisinin \u0259ksik olmas\u0131 talassemiya da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131 adlan\u0131r. Bu \u015f\u0259xsl\u0259rd\u0259 orta d\u0259r\u0259c\u0259li anemiya vard\u0131r.<\/p>\n

3. (a-\/–) Üç gen \u0259ksik olduqda bu hemaqlobin H x\u0259st\u0259liyi olaraq da adland\u0131r\u0131l\u0131r. X\u0259st\u0259 orta v\u0259 ya a\u011f\u0131r anemiya ola bil\u0259r. Bu x\u0259st\u0259lik sümük probleml\u0259rin\u0259 s\u0259b\u0259b olur. Yanaqlar, al\u0131n v\u0259 ç\u0259n\u0259 x\u0259tti böyüyür. Bundan \u0259lav\u0259, hemoglobin H x\u0259st\u0259liyi a\u015fa\u011f\u0131dak\u0131lara s\u0259b\u0259b ola bil\u0259r: sar\u0131l\u0131q, son d\u0259r\u0259c\u0259 geni\u015fl\u0259nmi\u015f dalaq, qidalanma. Semptomlar q\u0131zd\u0131rma il\u0259 pisl\u0259\u015f\u0259 bil\u0259r. X\u0259st\u0259lik h\u0259mçinin mü\u0259yy\u0259n d\u0259rmanlara, kimy\u0259vi madd\u0259l\u0259r\u0259 v\u0259 ya yoluxucu agentl\u0259r\u0259 m\u0259ruz qald\u0131qda daha da pisl\u0259\u015f\u0259 bil\u0259r. Tez-tez qanköçürm\u0259 t\u0259l\u0259b olunur. Alfa talassemiyal\u0131 bir u\u015faq sahibi olma riskiniz daha yüks\u0259kdir. Talassemiyan\u0131n simptomlar\u0131 daha ciddidirl\u0259r v\u0259 x\u0259st\u0259liyi daim izl\u0259m\u0259k laz\u0131md\u0131r.<\/p>\n

4.  Alfa talassemiya \u0259sas. Bütün 4 gen yoxdur. Bu, a\u011f\u0131r anemiyaya s\u0259b\u0259b olur. \u018fks\u0259r hallarda x\u0259st\u0259likd\u0259n \u0259ziyy\u0259t ç\u0259k\u0259n körp\u0259 do\u011fu\u015fdan \u0259vv\u0259l ölür. Çox ciddi bir x\u0259st\u0259likdir.<\/p>\n

Bel\u0259likl\u0259, iki növ alfa talassemiya sa\u011flaml\u0131q üçün çox t\u0259hlük\u0259lidir. Daha a\u011f\u0131r tip hidrosel hemoqlobin Barth sindromu kimi tan\u0131n\u0131r, bu da hemoqlobin Barth sindromu v\u0259 ya alfa talassemiya major adlan\u0131r. Daha yüngül forma HbH x\u0259st\u0259liyi adlan\u0131r. Bart sindromu, do\u011fu\u015fdan \u0259vv\u0259l b\u0259d\u0259nd\u0259 art\u0131q mayenin y\u0131\u011f\u0131ld\u0131\u011f\u0131 bir v\u0259ziyy\u0259t olan fetal damc\u0131 il\u0259 xarakteriz\u0259 olunur. \u018flav\u0259 \u0259lam\u0259tl\u0259r v\u0259 simptomlar is\u0259 a\u011f\u0131r anemiya, qaraciy\u0259r v\u0259 dala\u011f\u0131n böyüm\u0259si (hepatosplenomeqaliya), ür\u0259k qüsurlar\u0131, sidik sisteminin v\u0259 ya cinsiyy\u0259t orqanlar\u0131n\u0131n anormall\u0131qlar\u0131n\u0131 \u0259hat\u0259 ed\u0259 bil\u0259r. Bu ciddi sa\u011flaml\u0131q probleml\u0259ri n\u0259tic\u0259sind\u0259 bu x\u0259st\u0259liy\u0259 tutulan körp\u0259l\u0259rin \u0259ks\u0259riyy\u0259ti ölü do\u011fulur v\u0259 ya do\u011fu\u015fdan q\u0131sa müdd\u0259t sonra ölür. Bart sindromu hamil\u0259lik dövründ\u0259 qad\u0131nlarda \u015fi\u015flik (preeklampsi), vaxt\u0131ndan \u0259vv\u0259l do\u011fu\u015f v\u0259 anormal qanaxma il\u0259 t\u0259hlük\u0259li yüks\u0259k qan t\u0259zyiqi d\u0259 daxil olmaqla ciddi f\u0259sadlara s\u0259b\u0259b olur.<\/p>\n

X\u0259st\u0259liyi yüngül v\u0259 orta d\u0259r\u0259c\u0259d\u0259 anemiya, hepatosplenomeqaliya, gözl\u0259rin v\u0259 d\u0259rinin sararmas\u0131na (sar\u0131l\u0131q) s\u0259b\u0259b olur. B\u0259zi x\u0259st\u0259l\u0259rd\u0259 yuxar\u0131 ç\u0259n\u0259nin h\u0259ddind\u0259n art\u0131q böyüm\u0259si v\u0259 qeyri-adi ç\u0131x\u0131nt\u0131l\u0131 al\u0131n kimi sümük d\u0259yi\u015fiklikl\u0259ri d\u0259 olur. HbH x\u0259st\u0259liyinin \u0259lam\u0259tl\u0259ri ad\u0259t\u0259n erk\u0259n u\u015faql\u0131qda görünür v\u0259 x\u0259st\u0259l\u0259r ad\u0259t\u0259n yetkinlik ya\u015f\u0131na q\u0259d\u0259r sa\u011f qal\u0131rlar.<\/p>\n

Alfa-talassemiyan\u0131n müalic\u0259si<\/strong><\/p>\n

Alfa-talassemiyan\u0131n yüngül formas\u0131 olan insanlar hemoqlobinin a\u015fa\u011f\u0131 s\u0259viyy\u0259sini n\u0259zar\u0259t etm\u0259k üçün z\u0259ruri olan hallar istisna olmaqla, xüsusi müalic\u0259y\u0259 ehtiyac duymaya bil\u0259rl\u0259r. S\u0259ssiz da\u015f\u0131y\u0131c\u0131lar v\u0259 alfa-talassemiya \u0259lam\u0259tl\u0259ri olan \u015f\u0259xsl\u0259r üçün proqnoz yax\u015f\u0131d\u0131r. HbH x\u0259st\u0259liyi olan insanlar üçün ümumi sa\u011fqalma d\u0259r\u0259c\u0259si d\u0259yi\u015fir, lakin ümumiyy\u0259tl\u0259 yax\u015f\u0131d\u0131r. X\u0259st\u0259l\u0259rin \u0259ks\u0259riyy\u0259ti yetkinlik ya\u015f\u0131na q\u0259d\u0259r ya\u015fay\u0131r. Ancaq b\u0259zi x\u0259st\u0259l\u0259rd\u0259 daha mür\u0259kk\u0259b ged\u0131\u015f mü\u015fahid\u0259 olunur v\u0259 h\u0259yat boyu qan köçürülm\u0259sin\u0259 ehtiyac duyurlar. B\u0259zi x\u0259st\u0259l\u0259rd\u0259 d\u0259mir v\u0259 ya fol tur\u015fusu \u0259lav\u0259 etm\u0259k faydal\u0131 ola bil\u0259r. Daha a\u011f\u0131r anemiya x\u0259st\u0259l\u0259rin\u0259 ömürlük transfuziya müalic\u0259si t\u0259l\u0259b olunur. Çox a\u011f\u0131r hallarda allogen hemopoetik kök hüceyr\u0259l\u0259rinin transplantasiyas\u0131 ehtimal\u0131n\u0131 n\u0259z\u0259rd\u0259n keçirm\u0259k olar. HbH x\u0259st\u0259liyi olan b\u0259zi x\u0259st\u0259l\u0259r üçün splenektomiya faydal\u0131 ola bil\u0259r.<\/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":"

Hemoqlobin genl\u0259rind\u0259 mutasiya mü\u0259yy\u0259n bir növ z\u0259ncir sintezinin pozulmas\u0131na s\u0259b\u0259b olur Talassemiya dünyada \u0259n çox yay\u0131lm\u0131\u015f irsi v\u0259ziyy\u0259tl\u0259rd\u0259n biridir. Az\u0259rbaycanda da talassemiya ba\u015fqa irsi x\u0259st\u0259likl\u0259rl\u0259 müqayis\u0259d\u0259 geni\u015f yay\u0131lm\u0131\u015f v\u0259 ild\u0259n-il\u0259…<\/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-160063","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\/160063","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=160063"}],"version-history":[{"count":0,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts\/160063\/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=160063"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=160063"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=160063"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}