Siyini isifo se-sickle cell (futhi selashwa kanjani)?
Imfundo YezempiloIsifo se-Sickle cell (I-SCD) yiqembu lokuphazamiseka kwegazi okuzuzwe njengefa okuthinta amangqamuzana abomvu egazi, ikakhulukazi i-molecule kulawa maseli abizwa nge-hemoglobin eletha umoya-mpilo kumaseli kuwo wonke umzimba. Ngokusho kwe- Izikhungo Zokulawulwa Nokuvikelwa Kwezifo (CDC), lesi simo sithinta izigidi zabantu emhlabeni jikelele, kufaka phakathi abantu abalinganiselwa ku-100,000 e-United States.
Usithola kanjani isifo se-sickle cell?
Ukuze umuntu abe nesifo se-sickle cell, bobabili abazali kufanele badlulisele ifomu elinezici zofuzo lwe-hemoglobin enganeni yabo. Uma kungumzali oyedwa kuphela odlulisa isakhi sofuzo, ingane izothola ifa lesici sesikela. Lokhu kusho ukuthi igazi labo lingase libe namaseli athile amasikela, kodwa ngokuvamile abaguli.
Iziguli eziguliswa amaseli ziye zahlanekezela ama-molecule e-hemoglobin alula amangqamuzana abomvu egazi abe yisikela. Lawa maseli aqinile, futhi ulwelwesi lwawo lonakele futhi lonakala kalula. Ngenkathi ingqamuzana elibomvu legazi elijwayelekile lihlala ekusakazeni komzimba izinsuku eziyi-120, amaseli amasikela ahlala cishe izinsuku eziyi-18 noma eziyi-19. Amaseli agulayo avimba imithambo yegazi emincane (ama-capillaries), anciphisa ukugeleza kwegazi kuya ezithweni ezahlukahlukene futhi angadala ukulimala komzimba isikhathi eside.
Yize ukungajwayelekile okuyinhloko kuphakathi kwengqamuzana elibomvu, isifo se-sickle cell siba yisifo se-multisystem, kusho U-Abdullah Kutlar, MD , i-hematologist yabantu abadala kanye nomqondisi weSickle Cell Centre e-Augusta University. Izinkinga zomtholampilo zithinta zonke izitho zomzimba kusuka ekhanda kuye ozwaneni. Ihambisana nokushaywa unhlangothi, kuthinta amehlo, amaphaphu, ubende namathambo.
Isifo se-Sickle cell ikakhulu sithinta abantu okhokho babo abavela emazweni aseningizimu yeSahara e-Afrika, izifunda ezikhuluma iSpanish eNtshonalanga Nenkabazwe (iNingizimu Melika, iCaribbean, kanye ne-Central America), i-India, namanye amazwe aseMpumalanga Ephakathi naseMedithera. Isifo se-Sickle cell sifo sivela kaningi kubantu abavela ezingxenyeni zomhlaba lapho umalaleveva uvame khona — kungaba namuhla noma esikhathini esedlule. Abantu abaphethe iseli lesikela banethuba elingcono lokusinda ekulweni nomalaleveva.
Isifo se-Sickle cell sifo senzeka koku-1 kokukodwa kokuzalwa kwama-365 ase-Afrika aseMelika; izingane ezizungeze u-1 kwabangu-13 abamnyama e-U.S. zizalwa zinezici zeseli lesikela.
OKUSHIWO: Imibuzo eyi-9 ongayibuza udokotela uma umnyama, ungowomdabu, noma ungumuntu onebala
Izinhlobo zesifo se-sickle cell
Isifo se-Sickle cell yisikhathi esibanzi esifaka izinhlobo eziningi zesimo. Lezi yizinhlobo ezivame kakhulu ze-SCD:
- I-Sickle cell anemia (HbSS):Abantu abanale fomu ye-SCD badla ifa leseli elilodwa lesikela kumzali ngamunye. I-Sickle cell anemia imvamisa iyindlela ebucayi kakhulu yesifo se-sickle cell.
- Isifo se-hemoglobin C esigulayo (HbSC):Ngalolu hlobo lwe-SCD, isakhi sofuzo esisodwa se-sickle sitholwa ngofuzo kumzali oyedwa, kanti komunye, isakhi sofuzo se-hemoglobin engajwayelekile okuthiwa i-C. Ngokuvamile kuyindlela elula ye-SCD.
- I-beta thalassemia egulayo (HbS beta thalassemia):Abantu abanale fomu ye-SCD badla ifa leseli elilodwa lesikela kumzali oyedwa nesakhi sofuzo esisodwa se-beta thalassemia ( uhlobo lwe-anemia ) kusuka komunye umzali. Kunezinhlobo ezimbili ze-beta thalassemia: 0 no +. I-Hbs beta 0-thalassemia uhlobo olubi kakhulu lwesifo se-sickle cell, kuyilapho i-Hbs beta + inamandla.
Izimpawu zesifo se-sickle cell
Abantu abanesifo se-sickle cell bavame ukuqala ukukhombisa izimpawu zalesi simo lapho besebancane, cishe izinyanga ezinhlanu ubudala. Izingane ezingaphansi kwalesi sikhathi azibonisi izimpawu ngoba i-hemoglobin yombungu ivikela amangqamuzana egazi abomvu ekuguleni. Njengoba zikhula, i-hemoglobin yesikela ingena esikhundleni sohlobo lombungu.
Izimpawu nezinkinga ze-SCD zihlukile kumuntu ngamunye futhi zingahluka kusuka komoya kuya kokubi. Inkinga evame kakhulu yesifo se-sickle cell ubuhlungu obukhulu, obubizwa ngokuthi yiziqephu zobuhlungu noma izinhlungu zezinhlungu, ezingaba kusuka komnene ziye kokubi. Kwenzeka lapho amaseli amasikela ahamba ngemithambo yegazi emincane, abhajwe, futhi avimbe ukuhamba kwegazi. Lokhu kubizwa ngokuthi yi-sickle cell crisis futhi kuyimbangela ejwayelekile yokwamukelwa esibhedlela phakathi kweziguli ze-SCD. Ezinye izinkinga zifaka:
- I-hand-foot syndrome: Lokhu kuvuvukala ezandleni nasezinyaweni ngokuvamile kuyisibonakaliso sokuqala se-SCD.
- Ukushoda kwegazi:Ukuntuleka kwamaseli abomvu abomvu okuphatha i-oksijini kubanga i-anemia enamandla lapho abantu abane-SCD bezizwa bekhathele, benesiyezi noma benekhanda elikhanyayo, futhi benenkinga yokuphefumula ezimweni ezinzima.
- Ukutheleleka :Abantu abane-SCD, ikakhulukazi izingane ezincane, basengozini enkulu yokutheleleka ngenxa yokulimala kobende.
- I-Acute chest syndrome :Lesi simo sibukeka futhi sizwakala sifana nenyumoniya ngobuhlungu besifuba, ukukhwehlela, ukuphefumula kanzima, nomkhuhlane. Kungasongela impilo.
- Ukubuyiselwa kwe-Splenic :Lesi simo esisongela impilo senzeka lapho inani elikhulu lamangqamuzana amasikela libhajwe ebuchosheni futhi libangele ukuthi likhulise.
- Izilonda zomlenze :Ukuhlukumezeka, ukutheleleka, ukuvuvukala, nokusakazeka kahle emithanjeni yegazi kudala izilonda engxenyeni engezansi yomlenze.
Sitholakala kanjani isifo se-sickle cell?
Ukuhlolwa kwegazi ukuphela kwendlela yokuthola isifo se-sickle cell noma ukuthola ukuthi ngabe kukhona yini ophethe isakhi sofuzo esingasidlulisela enganeni.
Umhlinzeki wezokunakekelwa kwezempilo uzodonsa igazi emthanjeni wengalo kubantu abadala, nomunwe noma isithende ezinganeni nasezingane ezisencane. E-U.S., Izingane ezisanda kuzalwa zivame ukuhlolwa isifo se-sickle cell. Ngemuva kokudonswa kwegazi, ilebhu bese ihlunga isampula ye-hemoglobin enesici.
Izikhathi eziningi, abantu abatholakala bephethe i-sickle cell gene bese bedluliselwa kumeluleki wezofuzo osiza iziguli nemindeni yazo ukuthi baqonde imininingwane yezofuzo nokuthi kuthinta kanjani ukunakekelwa kwabo kwezokwelapha noma ukuphatha isimo sabo.
Ngabe yelashwa iseli?
Ukuphila nesifo se-sickle cell kungaba yinselele, kodwa kusenokwenzeka ukuthi ube nokuphila okugcwele nokunempilo. Eminyakeni engama-20 kuya kwengu-30 edlule, ucwaningo lwezokwelapha, ukunakekelwa kanye nemfundo ngesifo se-sickle cell kusize ekuthuthukiseni umbono wabantu abakulesi simo.
Inani lokushona kwe-SCD kubantu abasha linalo kwehle kakhulu emashumini ambalwa eminyaka edlule, kusuka ku-9.3% ngo-1975 kuya ku 2.6% ngo-1989 . TO isifundo sakamuva kukhombisa ukuthi inani lokufa kwezingane zase-Afrika zaseMelika lehle ngo-68% esikhathini esiyiminyaka eyi-16. Abaphenyi bathi ukwehla kumuthi wokugoma we-pneumococcal owakhishwa ngo-2000. Abantu abane-SCD abavikelekile kangako ezifweni ezibucayi neziyingozi njenge-pneumonia.
Noma izingane ezine-sickle cell disease ziphila isikhathi eside, lesi simo sisaxhunyaniswa ne-a isikhathi esifushane sokuphila kubantu abadala . Ucwaningo lukhombisa isilinganiso seminyaka yokuphila kwabantu engama-42 kwabesifazane neminyaka engama-38 kwabesilisa.
Ngenkathi ukunakekelwa kwabantwana kusheshisiwe ngezikhungo zokwelashwa ezintsha kanye nodokotela abasebenzayo, iziguli zabantu abadala zisabhekene nezikhala ohlelweni lokunakekelwa kwezempilo.
Ngemuva kokuthi umuntu oneseli lesikela afinyelele eminyakeni eyi-18 noma eyi-19, kufanele ashiye isikhala sabantwana, futhi ngeshwa yiphuzu lapho abanye abantu bewela eweni, kusho uBarbara Harrison, umeluleki wezofuzo nomqondisi weCommunity Outreach and Education for Isikhungo Sezifo Zesifo Sokugula esibhedlela iHoward University. Azikho izazi ze-hematologists ezifanelekile, ezinolwazi eziqeqeshwe ku-sickle cell isifo futhi zijwayele izinkinga zabantu abadala.
Enye inselelo: imali yocwaningo. Isifo se-Sickle cell singesinye sezifo zofuzo ezisongela impilo e-U.S. Nokho, siyasithola imali encane kakhulu yocwaningo kunezinye izinkinga zofuzo ezifana ne-cystic fibrosis, ukungafani okusolwa ngokubandlulula okuhleliwe ekunakekelweni kwezempilo. Isisekelo samangqamuzana nesofuzo sesifo se-sickle cell sasingenye yezifo zokuqala ezitholwe ezifweni zabantu, kodwa-ke, sisekude impela ngezindlela zokwelashwa kanye namagxathu asethathiwe ukusiza ukwelapha lesi sifo, kusho uHarrison.
Njengamanje, ukufakelwa kwe-stem cell (okubizwa nangokuthi ukufakelwa umnkantsha wethambo) yikhona kuphela okwelapha isifo se-sickle cell. Phakathi nale nqubo, odokotela bafaka amangqamuzana anempilo (ama-stem cells) emzimbeni ukuze athathe indawo yomnkantsha owonakele noma onesifo. Umzimba wenza amangqamuzana egazi emnkantsheni wethambo enkabeni yethambo. Imvamisa, odokotela basebenzisa ukufakelwa kwegazi namathambo kusuka kubaxhasi abanempilo ukwelapha i-SCD, kepha iziguli zidinga umnikeli kumuntu onomnkantsha ofanayo. Ukufakelwa kwesinye isikhathi futhi kungadala imiphumela emibi kakhulu nokufa, futhi akutholakali kabanzi ngaphandle kwase-U.S. NaseYurophu.
Okunye ukwelashwa okungenzeka kusondele ukwelashwa kofuzo . Kubandakanya ukukhipha ama-stem cells akha igazi namaseli omzimba emnkantsheni noma egazini bese engeza isakhi sofuzo esinamaphutha kubantu abanesifo se-sickle cell. Odokotela bese bebuyisela amangqamuzana esigulini, okuholela ekutheni umzimba ukhiqize i-anti-sickling hemoglobin. Abaphenyi basenza izivivinyo zokwelashwa, kepha imiphumela yokuqala ibukeka ithembisa.
Okwamanje, umuthi osebenzayo ubalulekile. Sidinga ukwelashwa okwengeziwe ngenkathi sisebenza kubuchwepheshe obuphakeme, izindlela zokwelapha ezinjenge-STEM ukufakelwa kwamaseli nokwelashwa kofuzo, kusho uDkt. Kutlar.
Ukwelashwa kwamaseli okugula
Isinyathelo sokuqala sokuphila impilo ende ne-SCD ukuthola ukunakekelwa kwezempilo okuseqophelweni kusuka kochwepheshe kulesi simo. Ngemuva kwalokho, umuthi olungele izimpawu zakho ezithile.
I-Hydroxyurea
Ukwelashwa okujwayelekile kwesifo se-sickle cell kuyinto i-hydroxyurea , umuthi abahlinzeki bezokunakekelwa kwempilo abawusebenzisa kuqala ukwelapha umdlavuza. Abantu abane-SCD bathatha umthamo omncane, futhi kukhulisa i-hemoglobin ye-fetus ngenkathi ivimbela izinkinga eziningi zalesi simo-ukwehlisa izingqinamba zeseli lesikela, ukuya esibhedlela, imicimbi ye-pneumonia, kanye nesidingo sokumpontshelwa igazi.
Eminyakeni yamuva nje, izinkampani ezenza imishanguzo seziye zaba nentshisekelo yokwakha izindlela ezintsha zokwelapha izifo ze-sickle cell. Lokhu kungenxa yokuthi, ngokwengxenye, ukuntuleka kwemithi yokwelapha, futhi ngoba isifo se-sickle cell siyisibonelo sokwelapha ezinye izimo ezifana nokuvuvukala nezifo zemithambo yegazi.
I-Endari (L-glutamine powder yomlomo)
Kusukela ngo-2017, i- Ukuphathwa Kwezokudla Nezidakamizwa zase-U.S (I-FDA) ivume ukwelashwa okusha kwesifo se-sickle cell, esokuqala emashumini eminyaka. Endari ( I-L-glutamine powder yomlomo ) eyabantu abane-SCD abaneminyaka engu-5 nangaphezulu. Lesi sidakamizwa, impuphu ethathwa ngomlomo, isebenza njenge-antioxidant ukudambisa izinkinga ezinkulu ezixhumene nalesi simo. Abaphenyi bathole ukuthi abantu abathatha i-Endari banezinkinga ezimbalwa zeseli lesikela futhi baya esibhedlela, kanye nokuhlala isikhashana esibhedlela.
I-Oxbreaker (voxelotor)
Ngo-2019, ukuvunyelwa kwe-FDA okusheshayo I-Oxbryta (voxelotor), umuthi wokuqala ukwelapha izimbangela ze-sickle cell anemia esikhundleni sezimpawu zayo nje. Nge-Oxbryta, amangqamuzana amasikela mancane amathuba okuthi ahlangane ndawonye futhi akhe ukuma kwesikela, okungadala amazinga aphansi e-hemoglobin ngenxa yokubhujiswa kwamangqamuzana egazi abomvu, uRichard Pazdur, MD, umqondisi we-FDA's Oncology Center of Excellence (OCE) uthe ku ukukhishwa kwezindaba ezimemezela ukwelashwa . Lokhu kwelashwa kunikeza inketho yokwelashwa entsha yeziguli ezikulesi simo esibi futhi esisongela impilo. I-Oxbryta ingeyabantwana kanye nabantu abadala abaneminyaka engu-12 nangaphezulu.
I-Adakveo (crizanlizumab-tmca)
I-FDA ivume esinye isidakamizwa ngasekupheleni kuka-2019 , I-Adakveo (crizanlizumab-tmca), eyehlisa inani lezinkinga zeseli lesikela kubantu abadala nezingane ezingaphezulu kweminyaka yobudala eyi-16. Umuthi ungumjovo, otholwa abantu abane-SCD ngezikhathi ezithile, njalo emavikini amabili ekuqaleni bese beya kuwo kanye ngenyanga.
I-Sickle Cell Centre yase-Augusta University ibiyingxenye yesivivinyo ezweni lonke salokhu kwelashwa, futhi uDkt. Kutlar uthi ukusabela kweziguli bekukuhle kakhulu. Ngemuva kokuthi isifundo siqedile, iziguli ezimbalwa zeza kithi zathi, ‘Ngangizizwa ngincono kakhulu ngenkathi ngithola leyo infusions. Ngabe ikhona indlela ongangibuyisela ngayo kulokhu? ’Ngakho-ke, ngamafuphi, lokho kwaba isipiliyoni esihle ngombono wesiguli.
| Ukwelashwa kwezifo zesiguli | |||||
|---|---|---|---|---|---|
| Igama lomuthi | Isigaba sezidakamizwa | Umzila wokuphatha | Umthamo ojwayelekile | Okuqhamuka uma udla imishanguzo | Thola isigqebhezana |
| I-Hydroxyurea (Droxia, Hydrea, Siklos) | I-Antimetabolite | Ngomlomo | I-capsule eyodwa ye-200-400 mg ngosuku | Isiyezi, ukozela, ubuhlungu besisu, ukuqunjelwa, uhudo, isicanucanu, ukuhlanza nokulahlekelwa isifiso sokudla | Thola isigqebhezana |
| L-glutamine powder womlomo ( Endari ) | I-amino acid | Ngomlomo | 10-30 amagremu kabili ngosuku exutshwe nokudla noma isiphuzo | Ukuqunjelwa, isicanucanu, ikhanda elibuhlungu, ubuhlungu besisu, ukukhwehlela, ubuhlungu ekugcineni, ubuhlungu beqolo nobuhlungu besifuba | Thola isigqebhezana |
| I-Voxelotor (Oxbryta) | Isimoduli seHemoglobin oxygen-affinity modulator | Ngomlomo | Ithebhulethi eyodwa ye-1,500 mg ngosuku ethathwe noma ngaphandle kokudla | Ukuphathwa ikhanda, isifo sohudo, ubuhlungu besisu, isicanucanu, ukukhathala, ukuqubuka nomkhuhlane | Thola isigqebhezana |
| ICrizanlizumab-tmca (Amanzi) | I-P-selectin inhibitor | Ukujova | Imijovo engu-5 mg emavikini angu-0 no-2, bese kuba njalo emavikini amane | Ukucanuzela kwenhliziyo, ubuhlungu bamalunga, ubuhlungu beqolo nomkhuhlane | Funda kabanzi |
Abantu abanesifo se-sickle cell nabo bathatha i-counter-counter noma imithi kadokotela yezinhlungu ezingapheli futhi kungadinga ukumpontshelwa igazi ukwelapha izinkinga ezinjenge-anemia noma izifo.
Izinsiza zamaseli agulayo
I-United States Congress iqoke uSepthemba njengeNyanga Yokuqwashisa Ngamaseli Kazwelonke ukusiza ukuletha ukuqwashisa ocwaningweni nasekwelapheni isifo se-sickle cell. Ukuze ufunde kabanzi ngalesi simo, vakashela:
