Uyazi ngamaseli abomvu egazi egazini lakho. Ngokuvamile ayindilinga, aguquguquka, njengamabhola amancane enjoloba. Lokhu kuwavumela ukuthi ahambe kalula emithanjeni yegazi emincane emzimbeni wakho futhi athwale umoya-mpilo uye kuzo zonke izingxenye zomzimba wakho. Kodwa kwabanye abantu, lawa maseli abomvu egazi aba sesimweni se-sickle (esimise u-C), aqine futhi anamathele. Lokhu yilokho esikubiza ngokuthi isifo se-sickle cell (SCD). Lesi akusona isifo esizuzwe njengefa, kodwa isimo sofuzo.
Iyini ngempela isifo se-sickle cell (SCD)?
Kalula nje, isifo se-sickle cell yisifo sofuzo esithinta amangqamuzana ethu abomvu egazi. Ngaphakathi kwala maseli abomvu egazi kukhona iphrotheni ebizwa ngokuthi i-hemoglobin . Umsebenzi wayo oyinhloko ukucosha umoya-mpilo emaphashini bese uwusabalalisa emzimbeni wonke. I-molecule ye-hemoglobin yomuntu ophilile iyindilinga futhi ibushelelezi. Yingakho amangqamuzana abomvu egazi eyindilinga enhle.
Kodwa kumuntu onesifo se-sickle cell, ngenxa yesici sofuzo, isimo sale molekyuli ye-hemoglobin siyashintsha. Ngenxa yale hemoglobin engavamile, amangqamuzana abomvu egazi aba sesimweni sesikele, aqine, futhi anamathele. Cabanga nje, bekuzokwenzekani uma uzama ukuthumela izingcezu zegazi eziqinile, ezisesimweni sesikele ngepayipi elincane, esikhundleni sokuthi amabhola ayindilinga ahambe kulo? Angahlangana futhi anamathele epayipini, akunjalo? Ngendlela efanayo, lawa maseli asesimweni sesikele anamathela emithanjeni yethu yegazi emincane, evimbela ukuhamba kwegazi. Yilokhu okubangela izinkinga ezahlukahlukene njengobuhlungu obukhulu kanye ne-anemia .
Yiziphi izimpawu ezivamile zalesi sifo?
Izingane ezizalwa nesifo se-sickle cell zivame ukuqala ukukhombisa izimpawu cishe ezinyangeni ezi-5 ubudala. Lezi zimpawu zingahluka kuye ngomuntu nomuntu. Zingashintsha futhi ngokuhamba kwesikhathi.
| Isibonakaliso | Incazelo elula |
|---|---|
| I-anemia | Amaseli esikela abuthakathaka kakhulu. Nakuba iseli elibomvu legazi elivamile liphila cishe izinsuku ezingu-120, lawa maseli ayafa zingakapheli izinsuku ezingu-10-20. Lokhu kubangela ukuthi umzimba untule amaseli abomvu egazi, okwenza uzizwe ukhathele futhi ukhathele ngaso sonke isikhathi. |
| Izinkinga Zobuhlungu | Lolu uphawu oluyinhloko nolunzima kakhulu lwalesi sifo. Lapho amaseli esikela eqoqana futhi evimba imithambo yegazi ethambile esifubeni, esiswini, ezithweni nasemathanjeni, kubangela ubuhlungu obungabekezeleleki. Uma lobu buhlungu bukhulu, kungadingeka ukuthi ulaliswe esibhedlela bese uya e-ETU (Emergency Treatment Unit) . |
| Ukuvuvukala kwezandla nezinyawo | Lapho imithambo ethambile enikeza igazi ezandleni nasezinyaweni ivaleka, lezo zindawo ziqala ukuvuvukala. |
| Ukutheleleka okuvamile | Lawa maseli esikela ngezinye izikhathi alimaza izitho zomzimba ezifana ne-spleen. I-spleen iyisitho esibaluleke kakhulu ohlelweni lokuzivikela lomzimba wethu. Uma yonakele, ingozi yokuthola izifo iyanda. |
| Ukuphuzi kwamehlo nesikhumba | Njengoba inani elikhulu lamaseli esikela elimele liwohloka, isikhumba kanye namhlophe emehlweni kungaba phuzi (njenge-jaundice). |
| Ukukhubazeka kokubona | Uma la maseli evaleka emithanjeni yegazi ehambisa igazi esweni, i-retina yeso ingonakala futhi kungaba nezinkinga zokubona. |
| Ukukhubazeka kokukhula | Izingane ezinalesi simo zingakhula kancane kunezinye izingane, futhi ukuthomba nakho kungase kubambezeleke. |
Kungani lesi sifo senzeka? Ubani osengozini enkulu?
Imbangela eyinhloko yalesi sifo ukukhubazeka kwezakhi zofuzo. Kubangelwa ukukhubazeka kwezakhi zofuzo (i-hemoglobin-beta gene) ku-chromosome yethu 11, ehilelekile ekukhiqizweni kwe-hemoglobin.
Into ebaluleke kakhulu ukuthi ukuze ingane ibe nalesi sifo, kumele ithole lesi sakhi sofuzo esingenasici kunina nakuyise.
Uma bobabili abazali bengabathwali balesi sakhi sofuzo esingenasici, okusho ukuthi abanaso lesi sifo kodwa banesakhi sofuzo esibangela lesi sifo emizimbeni yabo, ingane yabo inethuba elilodwa kwangu-4 (25%) lokuzalwa nalesi sifo.
Uma umzali oyedwa kuphela ezuza ifa lesakhi sofuzo, ingane iba ngumthwali walesi sifo. Ngokuvamile ababonisi zimpawu, kodwa bangadlulisela isakhi sofuzo ezinganeni zabo.
Emhlabeni wonke, lesi sifo sivame kakhulu kubantu base-Afrika, eMpumalanga Ephakathi, eNingizimu Yurophu, kanye nase-Asian Indian.
Ungasithola kanjani lesi sifo? (Ukuxilongwa)
Kukhona indlela elula kakhulu yokuthola lokhu. Ukuhlolwa kwegazi okulula kungathola ukuthi lolu hlobo lwe-hemoglobin lunephutha. Emazweni amaningi, zonke izingane ezisanda kuzalwa ziyahlolwa lokhu.
Uma wena noma ingane yakho nitholakala ninalesi simo, udokotela wakho angase ancome ukuhlolwa okwengeziwe (njengokuskena okukhethekile ukuhlola ingozi yokushaywa unhlangothi). Futhi, ngenxa yokuthi kuyisimo sofuzo, ungathunyelwa kumeluleki wezakhi zofuzo.
Uma wena noma umlingani wakho ninesifo se-sickle cell noma niyithwali, ningahlola uketshezi lwe-amniotic lomntwana wakho ngesikhathi sokukhulelwa ukuze kubonakale ukuthi unaso yini lesi sifo. Buza udokotela wakho ukuthola ulwazi olwengeziwe.
Yiziphi izindlela zokwelapha?
Kunezinhloso ezintathu eziyinhloko zokwelapha isifo se-sickle cell:
- Ukuvimbela izinkinga zobuhlungu
- Ukulawula izimpawu nokunikeza impumuzo
- Ukuvimbela ezinye izinkinga
Kunezindlela ezahlukene zokwelapha lokhu.
Imithi
- I-Hydroxyurea: Lo muthi, othathwa nsuku zonke, unganciphisa ukuvama kokuhlaselwa futhi unciphise izinkinga ezifana ne-anemia kanye nokutheleleka. Abesifazane abakhulelwe kufanele bagweme ukuthatha lo muthi.
- Ama-Painkiller: Uma kwenzeka ukuhlaselwa ubuhlungu, ama-painkiller anikezwe udokotela angasiza ekulawuleni ubuhlungu.
- Eminye imithi: Imithi efana ne-`Crizanlizumab` (umjovo) kanye ne-`L-glutamine` (impuphu) manje isetshenziswa ukunciphisa ukuhlaselwa ubuhlungu, kanye nemithi efana ne-`Voxeletor` ye-anemia.
Ezinye izindlela zokwelapha
- Ukumpontshelwa Igazi: Ukunikela ngegazi elinempilo kungavimbela izinkinga ezifana nokuntuleka kwegazi kanye nokukhubazeka.
- Ukufakelwa Kwamaseli Esiqu: Lokhu ukufakelwa komnkantsha. Ezinye izingane kanye nabantu abadala abasebasha banethuba lokwelashwa ngokuphelele kulesi sifo ngalokhu. Kodwa-ke, kufanele kutholakale umuntu onikelayo ofanele (ngokuvamile isihlobo esiseduze) ngalokhu.
Izindlela Zokwelapha Zakamuva: Ukwelashwa Ngezakhi Zofuzo
Ngokuthuthuka kwesayensi yezokwelapha, ukwelashwa okuphumelelayo kakhulu nokuthembisayo kwalesi sifo sekuvele manje. I-'Casgevy' kanye ne-'Lyfgenia' yizindlela ezimbili zokwelapha izakhi zofuzo zakamuva. Kalula nje, lezi zindlela zisebenzisa amaseli okuqala athathwe emnkantsheni wesiguli, 'ahlelwe' kusetshenziswa ubuchwepheshe bezakhi zofuzo njenge-'CRISPR', okungukuthi, alungise iphutha, aphenduke amaseli akhiqiza amangqamuzana abomvu egazi aphilile, bese ephinde afakwa emzimbeni. Lokhu kuyindlela yokwelapha ethuthuke kakhulu engelapha lesi sifo.
Buyini ubudlelwano phakathi kwesifo se-sickle cell kanye ne-malaria?
Lena indaba exakile kakhulu. Umalaleveva yisifo esibi esidluliselwa omiyane. Ososayensi bakholelwa ukuthi i-gene ye-sickle cell yavela ukuze ivikele abantu kumalaleveva. Lokho kungenzeka kanjani? Uma umuntu ophethe isifo se-sickle cell (hhayi lesi sifo, i-gene kuphela) ethola umalaleveva, awubi mkhulu kangako. Lokhu kungenxa yokuthi amangqamuzana abomvu egazi amise okwesikela avimbela i-parasite ye-malaria ukuthi ikhule kahle emzimbeni. Yingakho abantu abanalesi gene basindile ezindaweni lapho umalaleveva wawuvamile khona, njenge-Afrika.
Umlayezo Wokuya Nawe Ekhaya
- Isifo se-sickle cell akusona isifo esithelelanayo, kodwa yisifo sofuzo esizuzwe kubazali.
- Inkinga enkulu lapha ukuthi isimo samaseli abomvu egazi siyashintsha futhi sivaleke emithanjeni yegazi.
- Ubuhlungu obukhulu, ukukhathala okuvamile (i-anemia), kanye nokutheleleka yizimpawu eziyinhloko.
- Ngokulandela ukwelashwa okufanele kanye neseluleko, ungakwazi ukulawula izimpawu zakho futhi uphile impilo evamile. Kubaluleke kakhulu ukuhlala uxhumana nodokotela wakho njalo.
- Ngenxa yezindlela zokwelapha zesimanje ezifana nokwelashwa ngezakhi zofuzo, manje sekunethemba elihle kakhulu ngalesi sifo.
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