Kusakwana kweHemoglobin
Kazhinji hemoglobin ine mapuroteni mana emaketani (globins), chimwe nechimwe chinosanganiswa nemhepo inotakura oxygen-heme. Kune marudzi maviri e globins - alpha uye beta globins. Kubatanidza vaviri vaviri, vanoumba molecule ye hemoglobin. Kubudiswa kwemhando dzakasiyana-siyana dzepasi kwakafanana, saka varipo mumari inenge yakaenzana muropa. Ne thalassemia, kufanana kwe-alpha- kana betaglobine kunoputika, izvo zvinotungamirira mukuvhiringidzwa mukuvakwa kwehemoglobin molecule. Iko kusakosha kwemaitiro akazara hemoglobin muropa iro rinotungamirira kukurudzirwa kweanemia uye zvimwe zviratidzo zve thalassemia.
Kune miviri miviri mikuru ye thalassemia:
- beta-thalassemia - inosanganiswa nekuputsa bheta-chain production globin;
- alpha-thalassemia - inoratidzirwa nekuputsika kwehuwandu hwe alpha maketani e globin. Zvirwere zvose zvine nhamba ye subtypes, yakasiyana nekuoma. Alfa-thalassemia mune zvayo zvose ane kanyoro yakawanda.
Iko kune maitiro matatu eeta-thalassemia: thalassemia duku, pakati pe thalassemia uye guru thalassemia. Zviratidzo zvediki thalassemia hazvisi zvishoma, asi vatakuri vemasikirwo akaremara anokonzera kutapudza vana vavo nenzira yakaoma. Mhosva dzebhea-thalassemia dziri kunyoresa pasi rose, asi dzinowanikwa muMediterranean uye nyika dzeMiddle East. Inenge makumi maviri kubva muzana yevanhu vezvikamu izvi (vanhu vanopfuura mamiriyoni 100) vane thalassemia gene. Iko kupararira kwechirwere ichi muMediterranean nyika inotsanangura zita rayo ("thalassemia" rinoshandurwa se "Mediterranean anemia").
Kuyera ropa
Varwere vane peta-beta-thalassemia vanowanzonzwa vakajairika uye havatarisi kurwara. Kazhinji kazhinji, inowanikwa pangozi munharaunda yeropa rega. Mutevedzeri wekushaya ropa anowanikwa mune varwere. Mufananidzo wakajeka weropa wakafanana zvikuru nehuwandu hwehutera hune anemia. Zvisinei, kutsvakurudza kumwe kunoita kuti zvibvirire kusabvisa kuvapo kwekushayikwa kweiyo chinhu chinoita. Pakuongorora kwakapararira, hutsika husingaenzaniswi hwezvikamu zveropa zvinoratidzwa.
Forecast
Mwana anenge ane beta-thalassemia yakawanda uye haafaniri kurapwa, asi angave akafanirwa kurwisa ropa mune remangwana riri kure, somuenzaniso, panguva yekuzvitakura kana panguva dzezvirwere zvinotapukira. Small beta-thalassemia inoita basa sechidziviriro chinorwisa marariya. Izvi zvinogona kutsanangura kupararira kwakanyanya kwethalassemia munyika dzeMiddle East. Kubha beta-thalassemia inowanikwa apo mwana akagara nhaka yezvisikwa zvakashata zvinokonzera kushandiswa kwebeta-globin kubva kuvabereki vose, uye muviri wake hauiti beta-globin mumutengo wakakwana. Panguva imwechete. Synthesis ya alpha maketani haisi kuputsika; vanoita insoluble inclusions mu erythrocytes, semugumisiro wekuti masero aya eropa anoderera pakukura uye anove akajeka muvara. Nguva yeupenyu ye erythrocytes yakadai ishoma kudarika nguva dzose, uye kukura kwezvinhu zvitsva zvakaderera zvikuru. Zvose izvi zvinotungamirira kune chirwere chakanyanya kuora ropa. Kunyange zvakadaro, rudzi urwu rwekushaya ropa, semutemo, haruratidzirwe kusvika kumakore emwedzi mitanhatu, kubva mumwedzi yekutanga yehupenyu izvo zvinonzi fetal hemoglobin inowanzo muropa, iyo inobva yashandiswa nehemoglobin inowanikwa.
Zviratidzo
Mwana ane thalassemia huru anotarisa asina kunaka, haasi kufarira uye akajeka, angasara shure kwekuvandudza. Vana vakadaro vangave vakaderedza kudya, havasi kuwedzera uremu, vanotanga kufamba nenguva. Mwana anorwara anova nechirwere chekushaya chirwere chakakomba pamwe chete nezvinetso zvinoratidza:
- chimiro chechimiro chemaziso (icho chinonzi chaMongooloid chiso);
- chimiro chinoshandiswa mumapfupa - izvo zvinonzi "shongwe yeharu" chiratidzo (chinyorwa chakaumbwa periostosis) chakabatanidzwa ne bone marrow hyperplasia is radiological;
- kuonda uye kuputika kwemapfupa.
Thalassemia chirwere chisingaregi. Varwere vanotambura nezvinetso zvakabatana muupenyu hwose. Nzira dzemazuva ano dzekurapa dzinogona kuita kuti upenyu hwevarwere huwedzere. Nheyo yekurapa kwema-beta-thalassemia inogara ichiwedzerwa ropa. Mushure mekuongororwa, murwere anopiwa kuwedzerwa ropa, kazhinji girasi mumavhiki mana kusvika matanhatu. Chinangwa chekurapa kwakadai ndekuwedzera mari; masero eropa (normalization yeropa rumbiro). Nekubatsirwa kwekuwedzerwa ropa, kutarisa kuderedza ropa rehupenyu kunopiwa, izvo zvinobvumira mwana kuti aite zvakanaka uye anodzivirira unhu hwekuchinja kwemapfupa. Dambudziko guru rinosangana nekuwedzerwa ropa kakawandisa kunowedzera kudya kwesimbi, iyo inopisa muviri. Dare rakawandisa rinogona kukuvadza chiropa, mwoyo uye dzimwe nhengo.
Kurapa kwekudhakwa
Kuti abvise kudhakwa, inonzi inravenously injected drug deferoxamine. Kazhinji inoratidzira maawa masere infusions deferoxamine 5-6 kavhiki. Kukurudzira kubviswa kweyimbi yakawanda, kunwa muromo we vitamine C kunobvunzwawo. Iyi miitiro inoremedza zvikuru murwere uye vadikanwa vake, naizvozvo hazvishamisi kuti varwere kazhinji havateereri kurongeka kwemitemo. Kurapa kwakadaro kunowedzera hutariro hwehupenyu hwevarwere vane beta-thalassemia huru, asi hairi kurapa. Nechikamu chiduku chevarwere vanoponesa kusvika pamakore makumi maviri, maitiro avo haana kunaka. Pasinei nekurapwa kwakapfurikidza, vana vane rudzi urwu rwethalassemia havasati vasvika pakuyaruka. Kakawanda kuratidzwa kwethalassemia ndiko kuwedzera kwepleen, pamwe chete nekuunganidza kwemasero matsvuku eropa mairi, zvichisiya ropa, iro rinowedzera kupererwa kwemvura. Kurapa varwere vane thalassemia, dzimwe nguva vanoshandisa kubvongodzwa kwepleen (splenectomy). Zvisinei, kune varwere vane chirwere cheplenectomy, kune kuwedzerwa kwekuwedzera kune utachiona hwepneumococcal. Mumamiriro ezvinhu akadaro, kupemerwa kana kuti lifelong prophylactic antibiotics inokurudzirwa. Mukuwedzera kune zvishoma nezvidha-beta-thalassemia, kunewo mukati-kati beta-thalassemia uye alpha-thalassemia. Kuongororwa kwevakadzi vane pamuviri vane zviratidzo zvediki thalassemia kunoratidzira kuvapo kwemaitiro akaoma echirwere mu fetus. Ikoko kune rudzi rwechitatu rwe beta-thalassemia, inozivikanwa sepakatikati beta-thalassemia. Chirwere ichi chakakomba chiri pakati pediki uye mikuru. Mune varwere vane mutambo wepakati thalassemia, hemoglobin level muropa yakaderedzwa zvishoma, asi yakakwana kubvumira murwere kuti atungamirire hupenyu husati huripo.Varwere vakadaro havadi kuwedzerwa kuwedzerwa ropa, saka vari pangozi yakanyanya yezvinetso zvinosanganiswa nehuwandu hwesimbi mumutumbi
Forecast
Kune marudzi akawanda e-alpha-thalassemia. Panguva imwe chete, hapana kujekesa zvakajeka muzvikuru uye zviduku. Izvi zvinokonzerwa nokuvapo kwemajini mana akasiyana-siyana anoita kuti kuwedzerwa kwe alpha globin maketani anoumba hemoglobin.
Zvirwere zvakakomba
Kuoma kwechirwere ichi kunobva pakuwanda kwemachina emagetsi angakanganisika. Kana chete geni rimwe rakagadziriswa, uye mamwe matatu ari akaenzana, murwere kazhinji haarati anoratidza kusakosha kweropa. Zvisinei, nekukundwa kwemaviri kana zvitatu zvemajini zvinowedzera kuipa. Kufanana ne beta-thalassemia, alpha thalassemia inowanikwa munzvimbo dzinowanikwa marariya. Ichi chirwere chinowanzobva kuSouth Asia, asi hachiwanzoitiki kuMiddle East neMediterranean.
Diagnostics
Kuongororwa kweAlpha-thalassemia kunobva pamigumisiro yeropa rekuedzwa. Chirwere ichi chinosangana nehosha yakakura. Kusiyana ne beta-thalassemia, ne alpha-thalassemia hapana kuwedzera kweHemoglobin HA2. Kubha beta-thalassemia inogona kuonekwa vasati vaberekwa. Kana, maererano neshoko kana zviitiko zvekuongororwa kwakarongwa, mukadzi wacho ndiye anotakura geni rediki thalassemia, baba vanozotevera vanoongororwawo nokuda kwethalassemia. Apo geni rediki duku thalassemia rinowanikwa muvabereki vose, kunyatsoongorora kunogona kuitwa mumutambo wekutanga wekudzivirira pamusana pehutachipa ropa. Apo mwana akaberekwa anowanikwa ane zviratidzo zvegeta-thalassemia huru, kubvisa pamuviri kunoratidzwa.