Ukuntuleka kwe-hemoglobin
Ngokuvamile i-hemoglobin inezinhlayiya ezine zamaprotheni (ama-globins), ngalinye elihlobene ne-oxygen-transporting molecule - heme. Kunezinhlobo ezimbili zama-globins - ama-globins we-alpha ne-beta. Ukubumbana ngamabili, benza i-molemikhali ye-hemoglobin. Ukukhiqizwa kwezinhlobo ezahlukene zama-globins kulinganisela, ngakho-ke bakhona ngamanani alinganayo egazini. Nge-thalassemia, ukuhlanganiswa kwe-alpha- noma i-betaglobini kuphazanyiswa, okuholela ekuphazanyeni ukwakhiwa kwe-molecule ye-hemoglobin. Kungukuntuleka kwe-hemoglobin evamile egazini eliholela ekuthuthukiseni i-anemia nezinye izimpawu ze-thalassemia.
Kunezinhlobo ezimbili eziyinhloko ze-thalassemia:
- i-beta-thalassemia - ihlotshaniswa nokuphulwa kwe-globin yokukhiqiza kwe-beta-chain;
- i-alpha-thalassemia - ibonakala ngokuphula ukwehlukaniswa kwamaketanga e-globin we-alpha. Zombili lezi zifo zinama-subtypes amaningana, ahlukene ngobukhulu. I-Alfa-thalassemia kuzo zonke izinhlobo zayo inenkambo elula kakhulu.
Kunezinhlobo ezintathu ze-beta-thalassemia: i-thalassemia encane, i-thalassemia ephakathi kanye ne-thalassemia enkulu. Izimpawu ze-thalassemia encane ayincane, kodwa abathwali bezakhi zofuzo ezingalungile bayithumela ezinganeni zabo ngesimo esibi kakhulu. Amacala we-beta-thalassemia abhalisiwe kuwo wonke umhlaba, kodwa evamile eMedithera nakwamanye amazwe aseMpumalanga Ephakathi. Cishe ingxenye engu-20% yabantu balezi zifunda (abantu abangaphezu kwezigidi eziyikhulu) banezakhi ze-thalassemia. Kungukusakazeka kwalesi sifo emazweni aseMedithera echaza igama layo ("thalassemia" lihunyushwa ngokuthi "i-Mediterranean anemia").
Ukuhlolwa kwegazi
Iziguli ezine-beta-thalassemia encane ngokuvamile zizwa zijwayelekile futhi azibuki zigula. Ngokuvamile, itholakala ngengozi ekuhloleni kwegazi jikelele. I-anemia elinganisiwe iyabonwa ezigulini. Isithombe esincane kakhulu segazi sifana kakhulu ne-anemia ye-iron eyenele. Kodwa-ke, ucwaningo olwengeziwe lwenza kube lula ukukhipha ukungabi khona kwalesi sici sokulandelela. Kuhlaziywa okwandisiwe ukubonakala okungavamile kwezingxenye zegazi kubonakala.
Isibikezelo
Ingane ene-beta-thalassemia encane iqala ngokujwayelekile futhi ayidingi ukwelashwa, kodwa ingase ibekwe isikhathi eside esikhathini esizayo esikude, isibonelo, ngesikhathi sokukhulelwa noma ngezifo ezithathelwanayo. I-beta-thalassemia encane idlala indima njengesivikelo sokuzivikela ngokumelene ne-malaria. Lokhu kungase kuchaze ukuphakama okukhulu kwe-thalassemia emazweni aseMpumalanga Ephakathi. I-beta-thalassemia emikhulu yenzeka uma ingane izuze izakhi zofuzo ezingaphelele ezibhekene nokuhlanganiswa kwe-beta-globin kubazali bobabili, futhi umzimba wakhe awukhiqizi i-beta-globin ngemali evamile. Ngesikhathi esifanayo ukuhlanganiswa kwamaketanga e-alpha akuphukile; benza ama-inclusions angenayo i-erythrocytes, ngenxa yalokho lawo maseli egazi ayancipha ngosayizi futhi abe obala embala. Ukuphila kwama-erythrocyte anjalo kungaphansi kokuvamile, futhi ukuthuthukiswa kwezinto ezintsha kuyanciphisa kakhulu. Konke lokhu kuholela ekukhuleni kwegazi elinzima. Noma kunjalo, lolu hlobo lwe-anemia, njengombuso, alubonakali kuze kube seminyaka eyizinyanga eziyisithupha, kusukela ezinyangeni zokuqala zokuphila okuthiwa i-hemoglobin ye-fetal ixhomeke egazini, elizobe selibizwa ngokuthi i-hemoglobin ejwayelekile.
Izimpawu
Ingane ene-thalassemia enkulu ibukeka ingahambi kahle, ingenandaba futhi iluhlaza, ingahle ivele ngemuva kokuthuthukiswa. Izingane ezinjalo kungenzeka zanciphisa ukudla, azizuzi isisindo, ziqala ukuhamba kancane. Ingane egulayo idala i-anemia enamandla ehambisana nezinkinga zezici:
- isakhiwo sobuso esivamile (okuthiwa ubuso beMongooloid);
- izici zishintsha emathanjeni - okuthiwa "i-skull zekhanda" uphawu (periostosis enesinaliti) oluhlotshaniswa nomsongo we-bone hyperplasia yi-radiological;
- ukugcoba nokuphuka kwamathambo.
I-Thalassemia yisifo esingelapheki. Iziguli zihlushwa izifo ezihambisana nayo yonke impilo. Izindlela zokwelapha zanamuhla zingandisa isikhathi somuguli. Isisekelo sokwelashwa kwe-beta-thalassemia enkulu i-transfusion yegazi njalo. Ngemuva kokuxilongwa, isiguli sinikezwa ukumpompela igazi, ngokuvamile kuvamise amasonto angu-4-6. Inhloso yokwelapha okunjalo ukwandisa imali; amaseli egazi (normalization ye-formula yegazi). Ngosizo lokumpompela igazi, kuhlinzekwa ukulawula i-anemia, okuvumela umntwana ukuba athuthuke ngokujwayelekile futhi avimbele izici zokuguqulwa kwamathambo. Inkinga enkulu ehlotshaniswa nokumpontshelwa ngegazi eziningi i-iron inake ngokweqile, enomthelela onobuthi emzimbeni. Insimbi eyengeziwe ingalimaza isibindi, inhliziyo nezinye izitho.
Ukwelashwa kokudakwa
Ukuqeda ukudakwa, i-deferoxamine ye-drug injected intravenously. Ngokuvamile ubeka ama-infusions deferoxamine amahora angu-8 ngesonto. Ukusheshisa ukususwa kwe-iron eyengeziwe, ukuthambisa ngomlomo nge-vitamin C kuyaphakanyiswa futhi. Le medi imithwalo enzima isiguli kanye nabathandekayo bakhe, ngakho akumangalisi ukuthi iziguli ngokuvamile azihambisani nemigomo ejwayelekile yokwelashwa. Ukwelapha okunjalo kukhulisa kakhulu isikhathi sokuphila seziguli ezine-beta-thalassemia enkulu, kodwa ayiluphilisi. Ingxenye encane kuphela yeziguli iphila kuze kube neminyaka engu-20 ubudala, ukubikezelwa kwabo akubi. Naphezu kokwelashwa okuqhubekayo, izingane ezinalo hlobo lwe-thalassemia azivami ukufika esikhathini sokuthomba. Ukubonakaliswa okuvamile kwe-thalassemia ukukhuliswa kwephethini, kuhambisane nokuqoqwa kwamaseli abomvu kuwo, kushiya igazi, elikhuphula i-anemia. Ukwelapha iziguli nge-thalassemia, ngezinye izikhathi zisebenzisela ukukhishwa kwe-spleen (splenectomy). Kodwa-ke, ezigulini eziye zabhekana ne-splenectomy, kunomthelela okhulayo wokutheleleka kwe-pneumococcal. Ezimweni ezinjalo, kunconywa ukugoma noma imithi yokubulala i-prophylactic. Ngaphandle kwe-beta-thalassemia encane nenkulu, kune-beta-thalassemia ephakathi kanye ne-alpha-thalassemia. Ukuhlolwa kwabesifazane abakhulelwe abanezibonakaliso ze-thalassemia encane kubonisa ukuthi kunezifo ezinzima zesifo esifubeni. Kukhona uhlobo lwesithathu lwe-beta-thalassemia, eyaziwa ngokuthi yi-beta-thalassemia ephakathi. Lesi sifo esibucayi esiphakathi kwamafomu amancane nezinkulu. Kulezi ziguli ezine-thalassemia ephakathi, izinga le-hemoglobin egazini liyancishiswa, kodwa lanele ukuvumela isiguli ukuba siphile impilo evamile. Iziguli ezinjalo azidingi ukumpontshelwa igazi, ngakho-ke zingengozi ephansi kakhulu yokubhekana nezinkinga ezihlobene nokuncibilika kwensimbi emzimbeni
Isibikezelo
Kunezinhlobo eziningana ze-alpha-thalassemia. Ngesikhathi esifanayo, akukho ukuhlukaniswa okucacile kube amafomu amakhulu nezincane. Lokhu kungenxa yokutholakala kwezakhi zofuzo ezihlukene ezine eziphathelene nokuhlanganiswa kwama-alpha globin amaketanga akha i-hemoglobin.
Izifo ezinzima
Ukuqina kwesifo kuncike ekutheni zingaki zezinhlobo zomzimba ezine ezingenasici. Uma ngabe isakhi sofuzo esisodwa singathinteka, kanti ezinye ezintathu zijwayelekile, isiguli ngokuvamile asibonakali okungavamile okukhulu egazini. Kodwa-ke, ukunqotshwa kwezakhi zofuzo ezimbili noma ezintathu kuqhubeka kancane. Njenga-beta-thalassemia, i-alpha thalassemia ivame kakhulu ezindaweni ezikhona nge-malaria. Lesi sifo sivamile eNingizimu-mpumalanga ye-Asia, kodwa asivamile kwiMpumalanga Ephakathi naseMedithera.
Ukuhlonza
Ukuxilongwa kwe-alpha-thalassemia kusekelwe emiphumeleni yokuhlolwa kwegazi. Lesi sifo sihambisana ne-anemia eqinile. Ngokungafani ne-beta-thalassemia, nge-alpha-thalassemia ayikho ukwanda kwe-hemoglobin HA2. I-beta-thalassemia enkulu ingatholakala ngaphambi kokuzalwa. Uma, ngesisekelo somlando noma imiphumela yokuhlolwa okuhleliwe, lona wesifazane ungumthwali wegesi le-thalassemia elincane, ubaba ozayo uzohlolwa futhi nge-thalassemia. Uma isakhi se-thalassemia encane sitholwa kubazali bobabili, ukuxilongwa okuqondile kungenziwa ku-trimester yokuqala yokukhulelwa ngesisekelo segazi lesisu. Uma ingane itholakala enezibonakaliso ze-beta-thalassemia enkulu, isisu sibonisiwe.