Uyazi ngeeseli ezibomvu zegazi egazini lakho. Zihlala zingqukuva, ziguquguquka, njengeebhola zerabha ezincinci. Oku kuzivumela ukuba zihambe ngokulula kwimithambo yegazi emincinci emzimbeni wakho kwaye zithwale ioksijini ziye kuzo zonke iindawo zomzimba wakho. Kodwa kwabanye abantu, ezi seli zibomvu zegazi ziba nombala ofana nowesikela (uhlobo lwe-C), ziqine kwaye zinamathele. Oku sikubiza ngokuba sisifo se-sickle cell (SCD). Esi asisisifo esizuzwe njengelifa, kodwa yimeko yemfuza.
Yintoni kanye kanye isifo se-sickle cell (SCD)?
Ngamafutshane, isifo se-sickle cell sisifo semfuza esichaphazela iiseli zethu ezibomvu zegazi. Ngaphakathi kwezi seli zibomvu zegazi kukho iproteni ebizwa ngokuba yi-hemoglobin . Umsebenzi wayo ophambili kukuthatha ioksijini emiphungeni ize isasazeke emzimbeni wonke. Imolekyuli ye-hemoglobin yomntu ophilileyo ingqukuva kwaye igudile. Yiyo loo nto iiseli ezibomvu zegazi zingqukuva ezintle.
Kodwa kumntu onesifo se-sickle cell, ngenxa yesiphako semfuza, imo yale molekyuli ye-hemoglobin iyatshintsha. Ngenxa yale hemoglobin ingaqhelekanga, iiseli ezibomvu zegazi ziba mdaka, ziqine, kwaye zinamathele. Khawucinge nje, bekuya kwenzeka ntoni ukuba uzama ukuthumela iziqwenga zegazi eziqinileyo, ezimile okwesickle ngetyhubhu encinci, endaweni yokuba iibhola ezingqukuva zihambe kuyo? Ziya kuhlangana zize zinamathele kwityhubhu, akunjalo? Ngendlela efanayo, ezi seli zimile okwesickle zinamathela kwimithambo yethu yegazi emincinci, zithintele ukuhamba kwegazi. Yile nto ibangela iingxaki ezahlukeneyo ezifana neentlungu ezinzima kunye ne-anemia .
Ziziphi iimpawu eziqhelekileyo zesi sifo?
Iintsana ezizelwe zinesifo se-sickle cell zihlala ziqala ukubonisa iimpawu xa zimalunga neenyanga ezi-5 ubudala. Ezi mpawu zinokwahluka ukusuka kumntu ukuya komnye. Zinokutshintsha ngokuhamba kwexesha.
| Uphawu | Ingcaciso elula |
|---|---|
| I-anemia | Iiseli zesikele zibuthathaka kakhulu. Nangona iseli ebomvu yegazi eqhelekileyo iphila malunga neentsuku ezili-120, ezi seli ziyafa kwiintsuku ezili-10-20. Oku kubangela ukuba umzimba ungabi nazo iiseli ezibomvu zegazi, nto leyo ekwenza uzive udiniwe kwaye udiniwe ngalo lonke ixesha. |
| Iingxaki zentlungu | Olu lolona phawu luphambili nolunzima kakhulu lwesi sifo. Xa iiseli zesikele ziqokelelana kwaye zivala imithambo yegazi ethambileyo esifubeni, esiswini, emalungeni nasemathanjeni, kubangela intlungu enganyamezelekiyo. Ukuba le ntlungu inzima, kunokufuneka ulaliswe esibhedlele kwaye uye kwi -ETU (iYunithi yoNyango oluNgxamisekileyo) . |
| Ukudumba kwezandla neenyawo | Xa imithambo ethambileyo ehambisa igazi ezandleni nasezinyaweni ivalekile, ezo ndawo ziqala ukudumba. |
| Usulelo oluqhelekileyo | Ezi seli ze-sickle ngamanye amaxesha zonakalisa amalungu omzimba afana ne-spleen. I-spleen sisitho esibaluleke kakhulu kwinkqubo yomzimba yethu yokuzikhusela. Xa yonakele, umngcipheko wokufumana usulelo uyanda. |
| Ukutyheli kwamehlo nolusu | Njengoko inani elikhulu leeseli ze-sickle ezonakeleyo liwohloka, ulusu kunye namhlophe emehlweni banokuba tyheli (njenge-jaundice). |
| Ukukhubazeka kokubona | Ukuba ezi seli zivalekile kwimithambo yegazi ehambisa igazi elisweni, i-retina yeliso ingonakala kwaye kubekho iingxaki zokubona. |
| Ukulibaziseka kokukhula | Abantwana abanale meko banokukhula kancinci kunabanye abantwana, kwaye nokufikisa nako kunokulibaziseka. |
Kutheni esi sifo senzeka? Ngubani osengozini enkulu?
Eyona nto iphambili esi sifo sisiphene semfuza. Sibangelwa sisiphene kwijini (i-hemoglobin-beta gene) kwi-chromosome yethu 11, ebandakanyeka ekuvelisweni kwe-hemoglobin.
Eyona nto ibalulekileyo kukuba ukuze umntwana abe nesi sifo, kufuneka azuze esi sifuzo sinesiphene kumama nakutata wakhe.
Ukuba bobabini abazali bathwala esi sifo, oko kuthetha ukuba abanaso esi sifo kodwa baneso sifo emizimbeni yabo, umntwana wabo unethuba eli-1 kwi-4 (25%) lokuzalwa enesifo.
Ukuba ngumzali omnye kuphela ofumana esi sifuzo, umntwana uba ngumthwali wesifo. Ngokwesiqhelo ababonisi zimpawu, kodwa banokudlulisela esi sifuzo kubantwana babo.
Ehlabathini lonke, esi sifo sixhaphake kakhulu kubantu baseAfrika, eMbindi Mpuma, eMzantsi Yurophu, nase-Asia Indian.
Ungasixilonga njani esi sifo? (Ukuxilongwa)
Kukho indlela elula kakhulu yokubona oku. Uvavanyo lwegazi olulula lunokufumanisa ubukho bolu hlobo lwe-hemoglobin olunesiphako. Kumazwe amaninzi, lonke usana olusandul’ ukuzalwa luyavavanywa oku.
Ukuba wena okanye umntwana wakho nifunyaniswe ukuba ninayo le meko, ugqirha wakho unokucebisa uvavanyo olongezelelekileyo (njengokuskena okukhethekileyo ukujonga umngcipheko westroke). Kwaye, kuba yimeko yemfuza, ungathunyelwa kumcebisi wezemfuza.
Ukuba wena okanye iqabane lakho linesifo se-sickle cell okanye lingumthwali waso, ningenza uvavanyo lwe-amniotic fluid yomntwana wakho ngexesha lokukhulelwa ukuze kubonwe ukuba unaso na esi sifo. Buza ugqirha wakho ukuba akunike ulwazi oluthe kratya.
Zithini iindlela zonyango?
Kukho iinjongo ezintathu eziphambili zonyango lwesifo se-sickle cell:
- Ukuthintela iingxaki zentlungu
- Ukulawula iimpawu kunye nokubonelela ngoncedo
- Ukuthintela ezinye iingxaki
Kukho iindlela ezahlukeneyo zonyango zoku.
Amayeza
- I-Hydroxyurea: Eli yeza, elithathwa yonke imihla, linokunciphisa ukuhlaselwa rhoqo kwaye linciphise iingxaki ezifana ne-anemia kunye nosulelo. Abafazi abakhulelweyo kufuneka baphephe ukulisebenzisa eli yeza.
- Iipilisi zokunciphisa iintlungu: Xa kuvela uhlaselo lweentlungu, iipilisi zokunciphisa iintlungu ezichazwe ngugqirha zinokunceda ekulawuleni iintlungu.
- Amanye amayeza: Amayeza afana ne-`Crizanlizumab` (inaliti) kunye ne-`L-glutamine` (umgubo) ngoku asetyenziswa ukunciphisa iintlungu, kunye namayeza afana ne-`Voxeletor` e-anemia.
Ezinye iindlela zonyango
- Utofelo-gazi: Ukunikela ngegazi elisempilweni kunokuthintela iingxaki ezifana ne-anemia kunye nokukhubazeka.
- Ukufakelwa kweeseli zeStem: Olu lukufakelwa kwethambo lomongo. Abanye abantwana kunye nabantu abadala abancinci banokukwazi ukuphiliswa ngokupheleleyo kwesi sifo ngale nto. Nangona kunjalo, kufuneka kufunyanwe umntu oza kunikela ngegazi ofanelekileyo (ngokuqhelekileyo isalamane esisondeleyo).
Iindlela Zonyango Zamva Nje: Unyango Lwezakhi Zofuzo
Ngokuhambela phambili kwesayensi yezonyango, kuye kwavela unyango oluphumeleleyo noluthembisayo lwesi sifo. 'I-Casgevy' kunye ne-'Lyfgenia' zezinye zeendlela zonyango zamva nje zezakhi zofuzo. Ngamafutshane, ezi ndlela zisebenzisa ii-stem cells ezithathwe kumongo wethambo lomguli, 'zihlelwe' kusetyenziswa ubuchwepheshe bezakhi zofuzo obufana ne-'CRISPR', oko kukuthi, ukulungisa isiphene, zaguqulwa zaba ziiseli ezibomvu zegazi eziphilileyo, zaza zabuyiselwa emzimbeni. Olu lunyango oluphambili kakhulu olunokunyanga esi sifo.
Luluphi ulwalamano phakathi kwesifo se-sickle cell kunye ne-malaria?
Eli libali elingaqhelekanga kakhulu. I-Malaria sisifo esibi esidluliselwa ziingcongconi. Izazinzulu zikholelwa ukuba i-sickle cell gene yavela ukuze ikhusele abantu kwi-malaria. Kwenzeka njani oko? Ukuba umntu ophethe isifo se-sickle cell (hayi isifo, yi-gene kuphela) ufumana i-malaria, ayibi mandundu kangako. Oku kungenxa yokuba iiseli zegazi ezibomvu ezimile okwesickle zithintela i-parasite ye-malaria ukuba ingakhuli kakuhle emzimbeni. Yiyo loo nto abantu abanale gene basindile kwiindawo apho i-malaria yayixhaphakile khona, njenge-Afrika.
Umyalezo Wokuya Ekhaya
- Isifo seSickle cell asisosifo esosulelayo, kodwa sisifo semfuza esizuzwe kubazali.
- Ingxaki ephambili apha kukuba imo yeeseli ezibomvu zegazi iyatshintsha ize ivaleke kwimithambo yegazi.
- Intlungu ebuhlungu, ukudinwa rhoqo (i-anemia), kunye nosulelo zezona mpawu ziphambili.
- Ngokulandela unyango olufanelekileyo kunye neengcebiso, unokulawula iimpawu zakho kwaye uphile ubomi obuqhelekileyo. Kubaluleke kakhulu ukuhlala unxibelelana rhoqo nogqirha wakho.
- Ngenxa yonyango lwanamhlanje olufana nonyango lwezakhi zofuzo, ngoku kukho ithemba elihle kakhulu ngesi sifo.
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