Ubuhlungu be-Sickle Cell? Izimpawu, Izimbangela, Nokwelashwa

Ubuhlungu be-sickle cell luyisifo legazi elithathwa ngokufuywa lapho amaseli akho abomvu egazi ashintsha kusuka esimweni sawo esijwayelekile esiqondile siye esimweni sesinyembezi noma "sesikle." La maseli angaqondile awaphathi kahle i-oksijini njengamaseli aphilile futhi athambekele ekuvaleni imithambo emincane yegazi, okubangela ubuhlungu nezinye izinkinga.

Lesi simo sithinta izigidi zabantu emhlabeni jikelele futhi yinto ozalwa nayo, hhayi into ongayithola kwabanye. Nakuba kuyisimo sokuphila konke esidinga ukunakekelwa okuqhubekayo, abantu abaningi abane-sickle cell anemia baphila impilo egcwele, esebenzayo ngokwelashwa okufanele nokwesekwa.

Ubuhlungu be-Sickle Cell yini?

Ubuhlungu be-sickle cell luyisifo elithathwa ngokufuywa elithinta i-hemoglobin emagagini akho abomvu egazi. I-Hemoglobin yipuroteni ethwala i-oksijini emaphaphwini akho kuya kweminye imizimba yakho.

Kubantu abaphilile, amaseli abomvu egazi ayiqondile futhi athambile, avumela ukuthi ahambe kalula ngemithambo yegazi. Uma une-sickle cell anemia, amaseli akho abomvu egazi abaqatha, anamathele, futhi anefomu lesinyembezi noma isikli. La maseli angaqondile aphuka kalula futhi awaphili isikhathi eside njengamaseli abomvu egazi ajwayelekile.

Amaseli asinyembeziwe angabuye ahlangane ndawonye avikele ukugeleza kwegazi emithambemini emincane. Lokhu kuvimbela i-oksijini ukufinyelela ezicukwini zakho nezinhlungwini, okubangela ubuhlungu nezinye izinkinga ezihlobene nalesi simo.

Ziyini Izimpawu ze-Sickle Cell Anemia?

Izimpawu ze-sickle cell anemia zivame ukuvela ngonyaka wokuqala wokuphila, nakuba abanye abantu bangase bangabi nazimpawu ezinkulu kuze kube kamuva. Ubunzima nokuvamile kwezimpawu kungashintsha kakhulu kusuka kumuntu komunye.

Nazi ezinye zezimpawu ezivamile ongazihlangabezana nazo:

• Ubuhlungu obukhulu (izikhathi zokucindezeleka): Ubuhlungu obungakaze buvele, obukhulu esifubeni, emuva, ezandleni, ezinyaweni, noma esiswini esingaphela amahora kuya ezinsukwini
• Ukukhathala nobuthakathaka: Ukuzizwa ukhathele kalula ngenxa yamaseli abomvu egazi amancane aphilile athwala i-oksijini
• Ukuphefumula okufushane: Ukuphefumula okunzima, ikakhulukazi ngesikhathi somsebenzi womzimba
• Ukukhanya kwesikhumba, imilenze, noma amehlo angaphakathi: Izimpawu ze-anemia ezivela ekutheni inani lamaseli abomvu egazi liphansi
• Ukukhula kwezandla nezinyawo: Ngokuvamile enye yezimpawu zokuqala ezinganeni ezincane
• Ukutheleleka okuvamile: Ukugula kaningi kunokujwayelekile ngoba amaseli asinyembeziwe angalimaza i-spleen yakho
• Ukukhula okulandelayo: Izingane zingakhula kancane kunabangane bazo
• Izinkinga zobumhlophe: Ukubona okungacaci noma ukulahlekelwa ukubona uma amaseli asinyembeziwe evala imithambo yegazi emehlweni akho

Izimpawu ezingavamile kodwa ezinzima zingafaka ukukhanya kwesikhumba namehlo (i-jaundice), okuvela lapho amaseli asinyembeziwe ephuka ngokushesha kunokuba umzimba wakho ubukhumbule. Abanye abantu bangase babe nezilonda ezinyaweni eziphulukayo kancane noma izimpawu ezifana nesifo sobuchopho uma ukugeleza kwegazi ebuchosheni kuvalekile.

Yini ebangela ubuhlungu be-Sickle Cell?

Ubuhlungu be-sickle cell bubangelwa yishintsho (ukuguqulwa) ku-gene elithi umzimba wakho uwenze kanjani i-hemoglobin. Lesi shintsho le-genetic yinto oyithola kubazali bakho, hhayi into evela phakathi nokuphila kwakho.

Ukuze ube nobuhlungu be-sickle cell, kufanele uzuze amakhophi amabili e-sickle cell gene, elinye elivela kumzali ngamunye. Uma uzuza ikhophi elilodwa kuphela, unelokhu okuthiwa yi-sickle cell trait, evame ukungabangeli zimpawu kodwa kusho ukuthi ungapasa i-gene kubantwana bakho.

Ukuguqulwa kubangela umzimba wakho ukuba ukhiqize uhlobo olungaqondile lwe-hemoglobin oluthiwa yi-hemoglobin S. Uma i-hemoglobin S ikhipha i-oksijini, yenza imikhonto emide, eqinile eshintsha isakhiwo seli ebomvu legazi kusuka ekuqondile siye esimweni sesikle.

Lesi simo sivame kakhulu kubantu abazalwane babo bevela e-Afrika, endaweni ye-Mediterranean, eMpumalanga Ephakathi, noma e-India. Laba bantu bathuthukise i-sickle cell gene njengokuvikelwa e-malaria, isifo esithwalwa yizinyosi esivame kakhulu kulezi zindawo.

Nini okufanele ubona udokotela ngenxa yobuhlungu be-Sickle Cell?

Kufanele ufunuke ukunakekelwa kwezokwelapha ngokushesha uma uhlangabezana nezibonakaliso zezexwayiso ezingase zibonise izinkinga ezinzima. Lezi zimo zidinga ukunakekelwa okusheshayo futhi akufanele zidedelwe.

Shaya udokotela wakho ngokushesha noma uye endlini yokwelapha uma une:

• Ubuhlungu obukhulu besikhathi esibuhlungu: Ubuhlungu obungathuthuki ngemithi yakho evamile yokuhlupheka noma izindlela zokwelapha ekhaya
• Ushukela oluphezulu ku-101.3°F (38.5°C): Ngisho noshukela oluthambile lungase lubonise ukutheleleka okunzima
• Ukuphefumula okunzima: Ukuphefumula okufushane, ubuhlungu esifubeni, noma ukuphefumula okusheshayo
• Ubuhlungu obukhulu ekhanda: Ikakhulukazi uma kuhambisana nokudideka, ubuthakathaka, noma ukushintsha kokubona
• Ukushintsha kokuqonda okungazelelwe: Ukubona okungacaci, amabala abomvu, noma ukulahlekelwa ukubona
• Ubuthakathaka noma ukungabi namandla: Ikakhulukazi ohlangothini olulodwa lomzimba wakho
• Ubuhlungu obukhulu esiswini: Ikakhulukazi uma isisu sakho sizizwa siqabukile noma sibuhlungu
• Izimpawu zesifo sobuchopho: Ukukhuluma okungacaci, ukwehla kobuso, noma ukunzima ukuhamba

Ukuhlolwa okuvamile ngeqembu lakho lezokunakekelwa kwezempilo kubalulekile ngisho noma uzizwa kahle. Lezi zivivinyo zisiza ekuqapheleni isimo sakho futhi kuvimbele izinkinga ngaphambi kokuba zibe nzima.

Ziyini Izici Zingozi ze-Sickle Cell Anemia?

Njengoba ubuhlungu be-sickle cell luyisimo elithathwa ngokufuywa, isisekelo sakho se-genetic yiyona nto ebaluleke kakhulu. Kodwa-ke, ukuqonda lezi zici zingozi kungakusiza ukuba wenze izinqumo ezinolwazi mayelana nohlelo lwentsha yokuzala nokuphathwa kwezempilo.

Izici eziyinhloko zingozi zifaka:

• Umbukiso womndeni: Ukuba nabazali abaphethe i-sickle cell gene
• Isiko: Ukuba ngumuntu wase-Afrika, i-Mediterranean, eMpumalanga Ephakathi, noma i-India
• Ukuvela komhlaba: Ukuba nezigaba ezivela ezindaweni lapho i-malaria ikhona khona noma yayivame khona

Uma bobabili abazali bakho bephethe i-sickle cell gene, unethuba lika-25% lokuba nobuhlungu be-sickle cell, ithuba lika-50% lokuba ne-sickle cell trait, nethuba lika-25% lokungabi nayo. Ukubonisana kwe-genetic kungakusiza ukuqonda lezi zingozi kangcono uma uhlela ukuba nabantwana.

Ziyini Izinkinga Ezingase Zivele Ngobuhlungu be-Sickle Cell?

Ubuhlungu be-sickle cell bungathinta cishe yonke ingxenye yomzimba wakho ngoba kunciphisa ukulethwa kwe-oksijini ezicukwini zakho. Nakuba izinkinga eziningi zingaphathwa ngokunakekelwa okufanele, ukwazi ngazo kukusiza ukuba usebenze neqembu lakho lezokunakekelwa kwezempilo ukuze uzivimbele noma uziphathe kusenesikhathi.

Izinkinga ezivamile ongazihlangabezana nazo zifaka:

• I-Acute chest syndrome: Isimo esinzima lapho amaseli asinyembeziwe evala imithambo yegazi yephunga, ebangela ubuhlungu esifubeni nokuphefumula okunzima
• I-Stroke: Ingozini enkulu ngenxa yemithambo yegazi evaliwe ebuchosheni
• Ukonakala kwezinhlungwini: Izinso, isibindi, ne-spleen zingalimazeka ngokuhamba kwesikhathi ngenxa yokuvalwa okuphindaphindayo
• Ukutheleleka: Ukuba nomphumela omkhulu, ikakhulukazi e-pneumonia nakwezinye izifo zobhaktheriya
• Izilonda ezinyaweni: Izilonda ezivaliwe eziphulukayo kancane, ngokuvamile ezinyaweni
• Ama-Gallstones: Avame kakhulu ngenxa yokwanda kokwanda kwamaseli abomvu egazi
• Izinkinga zamehlo: Ukonakala kwe-retina okungabangela ukulahlekelwa ukubona
• I-Priapism: Kubantu besilisa, ukumisa okubuhlungu, okuhlala isikhathi eside okudingayo ukwelashwa ngokushesha

Izinkinga ezingavamile kodwa ezinzima zifaka i-avascular necrosis, lapho ithishu yamathambo ifa khona ngenxa yokuntuleka kokugeleza kwegazi, ne-pulmonary hypertension, ethinta imithambo yegazi emaphaphwini akho. Ukuqapha okuvamile kusiza ekutholeni lezi zinkinga kusenesikhathi lapho zitholakala khona.

Ubuhlungu be-Sickle Cell butholakala kanjani?

Ubuhlungu be-sickle cell ngokuvamile butholakala ngokuhlolwa kwegazi okungabonisa ukuba khona kwe-sickle cell hemoglobin. Emazweni amaningi, izinhlelo zokuhlola izingane ezisanda kuzalwa zihlwaya zonke izingane ngokushesha ngemva kokuzalwa, okuvumela ukutholakala nokuphathwa kusenesikhathi.

Izivivinyo eziyinhloko zokuxilonga zifaka i-hemoglobin electrophoresis, ehlukanisa izinhlobo ezahlukene ze-hemoglobin ukuze ithole i-sickle cell hemoglobin. Udokotela wakho angase futhi ahlele ukubalwa okuphelele kwegazi ukuze ahlole i-anemia nezinye izinkinga zamaseli egazi.

Uma ungumuntu omdala owayengakahlatshwa njengengane, noma uma uhlela ukuba nabantwana, ukuhlolwa kwe-genetic kungakwazi ukuqondisa ukuthi uthwala i-sickle cell gene yini. Lolu lwazi lubalulekile ekucwaningeni komndeni nasekuqondeni ingozi yakho yokudlulisa lesi simo kubantwana bakho.

Ukuhlolwa kwangaphambi kokuzalwa ngesikhathi sokukhulelwa kungase futhi kuthole ubuhlungu be-sickle cell ezinganeni ezingakazalwa. Lokhu kuhlolwa ngokuvamile kunikezwa abantu abashadile abaphethe i-sickle cell gene.

Yini ukwelashwa kwe-Sickle Cell Anemia?

Ukwelashwa kwe-sickle cell anemia kugxile ekuvimbeleni izikhathi zokucindezeleka, ukuphatha izimpawu, nokuvimbela izinkinga. Nakuba kungekho ukwelashwa okuqondile, izindlela zokwelapha eziningi zingathuthukisa kakhulu ikhwalithi yakho yokuphila nokuphila kwakho.

Uhlelo lwakho lokwelashwa ngokuvamile lufaka:

• I-Hydroxyurea: Imithi eyahlala ikhiqiza i-fetal hemoglobin, inciphisa izikhathi zokucindezeleka
• Ukuphathwa kobuhlungu: Kokubili imithi yokuthengwa ngaphandle kwesikripthi neye-prescription yezikhathi zokucindezeleka
• Ukugeleza kwegazi: Ukugeleza okuvamile kwegazi ukwandisa amaseli abomvu egazi aphilile
• Ama-Antibiotics: Ama-antibiotics okuvimbela ukuvimbela ingozi yokutheleleka, ikakhulukazi ezinganeni
• I-Vaccinations: Ama-vaccines engeziwe ukuze avikele ekutheni utheleleke i-spleen yakho evame ukulwa nayo
• I-Folic acid supplements: Ukuze usize umzimba wakho ukuba wenze amaseli abomvu egazi amasha

Kwabanye abantu, izindlela zokwelapha ezintsha njenge-voxelotor (evimbela amaseli abomvu egazi ukuba angasinyembezi) noma i-crizanlizumab (inciphisa izikhathi zokucindezeleka) zingase zibe izinketho. Ukuhlinzwa komgogodla wamathambo kusala kuphela ukwelashwa okungenzeka, kodwa ngokuvamile kugcinelwe izimo ezinzima ngenxa yezingozi ezihilelekile.

I-Gene therapy iyindlela yokwelapha entsha ebonisa ithemba ekuhlolweni kwezokwelapha. Le ndlela ihilela ukuguqula amaseli akho siqu emathanjeni ukukhiqiza i-hemoglobin enempilo, okungenzeka kube ukwelashwa okungadingi umnikelo.

Ungawuthatha kanjani ukwelashwa ekhaya ngesikhathi sobuhlungu be-Sickle Cell?

Ukuphatha ubuhlungu be-sickle cell ekhaya kuhilela imikhuba yansuku zonke engavimbela izikhathi zokucindezeleka futhi ikusize uzizwe kahle. Lezi zindlela zisebenza ndawonye nokwelashwa kwakho kwezokwelapha ukukunika ukulawula okungcono ngesimo sakho.

Izinyathelo zokuphatha zansuku zonke zifaka:

• Hlala uthambile: Phuza amanzi amaningi usuku lonke ukuze usize ukuvimbela ukucindezeleka
• Gwema ukushisa okukhulu: Hlala ufudumala ngesikhathi esibandayo futhi uthole ukupholisa ngesikhathi esishisayo
• Thola ukuphumula okwanele: Hlose amahora angu-7-8 wokulala ubusuku ngabunye
• Zivocavoca ngobumnene: Ukuzivocavoca okulula kuya kokuphakathi kusiza, kodwa gwema ukusebenza ngokweqile
• Phatha ukucindezeleka: Sebenzisa amasu okuphumula njengokuphefumula okujulile noma ukucamngca
• Thatha imithi njengoba kuyalelwe: Ungalokothi udlulise izilinganiso zemithi yakho yansuku zonke
• Gwema izinto eziqala ubuhlungu: Gwema ukuphakama okuphezulu, ukushisa okukhulu, nokuntuleka kwamanzi

Ngesikhathi sobuhlungu obukhulu, faka ubushushu ezindaweni ezibuhlungu, thatha imithi yakho yokuhlupheka njengoba kuyalelwe, uphumule. Uma ubuhlungu bukhulu noma abuthuthuki, ungangabazi ukuthintana nodokotela wakho noma ufunuke ukunakekelwa okusheshayo.

Ingabe ubuhlungu be-Sickle Cell bungavikelwa?

Njengoba ubuhlungu be-sickle cell luyisimo le-genetic elithathwa ngokufuywa, awukwazi ukuvimbela ukuba khona uma uzalwa nge-gene mutations. Kodwa-ke, ukubonisana kwe-genetic nokuhlolwa kungasiza abazali abazayo ukuqonda ingozi yabo yokuba nengane enalesi simo.

Uma uhlela ukuba nabantwana futhi unembukiso womndeni wesifo se-sickle cell, ukuhlolwa kwe-genetic kungakwazi ukuqondisa ukuthi wena nomlingani wakho niyaphethe i-sickle cell gene. Lolu lwazi lukuvumela ukuba wenze izinqumo ezinolwazi mayelana nohlelo lwentsha yokuzala.

Okungavikelwa yizinkinga eziningi nezikhathi zokucindezeleka ezihlobene nobuhlungu be-sickle cell. Ukulandela uhlelo lwakho lokwelashwa, ukuhlala uthambile, ukugwema izinto eziqala ubuhlungu, nokunakekelwa okuvamile kwezokwelapha kunganciphisa kakhulu ingozi yezinkinga ezinzima.

Kufanele ulungiselele kanjani i-Appointment yakho yokuya kudokotela?

Ukuba ulungile ngesikhathi sokuya kudokotela kukusiza ukuba uthole okuningi ngesikhathi sakho neqembu lakho lezokunakekelwa kwezempilo. Ukulungiselela okuhle kuqinisekisa ukuthi izinkinga ezibalulekile zixazululwe futhi izinhlelo zokwelashwa zilungiselelwe izidingo zakho.

Ngaphambi kwe-appointment yakho, buza ulwazi mayelana nezimpawu zakho zakamuva, kufaka phakathi ukuthi izikhathi zokucindezeleka zenzeke nini, zazinzima kangakanani, nokuthi yini ebonakala iyibangele. Gcina idayari yezimpawu uma kungenzeka, ubhale amazinga obuhlungu, imisebenzi, nanoma iyiphi imithi oyithathile.

Letha uhlu oluphelele lwemithi yonke oyithathayo, kufaka phakathi imithi yokuthengwa ngaphandle kwesikripthi nezinye izinto ezengeziwe. Letha nanoma imiphi imibuzo noma izinkathazo onazo mayelana nesimo sakho, izinketho zokwelashwa, noma amasu okuphatha imihla ngemihla.

Cabanga ukuletha ilungu lomndeni noma umngani ongakusiza ukuba ukhumbule ulwazi olukhulu oluxoxwe ngesikhathi se-appointment. Ungangabazi ukubuza udokotela wakho ukuba achaze noma yini ongayiqondi kahle.

Yini eyinhloko mayelana nobuhlungu be-Sickle Cell?

Ubuhlungu be-sickle cell luyisimo esinzima le-genetic esidinga ukuphathwa okuphila konke, kodwa akufanele lichaze impilo yakho. Ngokunakekelwa okufanele kwezokwelapha, ukuphathwa kwansuku zonke, nokwesekwa kweqembu lakho lezokunakekelwa kwezempilo, abantu abaningi abane-sickle cell anemia baphila impilo egcwele, ezuzisayo.

Ukuphumelela kuyindlela yokusebenza eduze nabaphakeli bezempilo abaqonda lesi simo, ukulandela uhlelo lwakho lokwelashwa ngokuqhubekayo, nokufunda ukuqaphela nokuqeda izinto eziqala ubuhlungu bakho.

Khumbula ukuthi izinketho zokwelashwa ziyaqhubeka zithuthuka, futhi abacwaningi bathuthukisa izindlela zokwelapha ezintsha ezinikeza ithemba ngisho nemiphumela engcono ngokwengeziwe esikhathini esizayo. Hlala uxhumene neqembu lakho lezokwelapha, hlala uqaphele isimo sakho, futhi ungangabazi ukufuna ukwesekwa uma usikudinga.

Imibuzo Evamile Mayelana nobuhlungu be-Sickle Cell

UMbuzo 1: Ingabe ubuhlungu be-sickle cell buthakazelisa?

Cha, ubuhlungu be-sickle cell abuthakazelisi. Awukwazi ukuwuthola kwabanye noma uwudlulisele kwabanye. Kuyisimo le-genetic oyithola kubazali bakho nge-genes zabo.

UMbuzo 2: Ingabe abantu abane-sickle cell anemia bangaba nabantwana?

Yebo, abantu abane-sickle cell anemia bangaba nabantwana. Kodwa-ke, kuneingozi yokudlulisa lesi simo kubantwana babo kuye ngokuthi umlingani wabo uthwala i-sickle cell gene yini. Ukubonisana kwe-genetic kungasiza abantu abashadile ukuqonda lezi zingozi futhi benze izinqumo ezinolwazi.

UMbuzo 3: Abantu abane-sickle cell anemia ngokuvamile baphila isikhathi esingakanani?

Isikhathi sokuphila sithuthukile kakhulu ngezindlela zokwelapha ezinhle. Abantu abaningi abane-sickle cell anemia manje baphila kuze kube eminyakeni engu-40, engu-50, nangaphezulu. Ukutholakala kusenesikhathi, ukunakekelwa okuqhubekayo kwezokwelapha, nokulandela izinhlelo zokwelashwa kungasiza ekuthuthukiseni isikhathi sokuphila nokwenza ikhwalithi yokuphila ibe ngcono.

UMbuzo 4: Ingabe ubuhlungu be-sickle cell bungaphiliswa?

Okwamanje, ukuhlinzwa komgogodla wamathambo kuyilona kuphela ukwelashwa okuqondile, kodwa kuza nezingozi ezinkulu futhi ngokuvamile kugcinelwe izimo ezinzima. I-Gene therapy ibonisa ithemba ekuhlolweni kwezokwelapha futhi ingase inikeze ithemba lokwelashwa esikhathini esizayo ngaphandle kokudingi umnikelo.

UMbuzo 5: Uyini umehluko phakathi kwe-sickle cell anemia ne-sickle cell trait?

Ubuhlungu be-sickle cell buvela uma uzuza amakhophi amabili e-sickle cell gene (elinye elivela kumzali ngamunye). I-Sickle cell trait ivela uma uzuza ikhophi elilodwa kuphela le-gene. Abantu abane-sickle cell trait ngokuvamile abanawo ama-symptoms kodwa bangapasa i-gene kubantwana babo.