Ngaba uyayazi iSickle Cell Anemia? Makhe sithethe ngayo!

Ngaba wakha weva ngegama elithi 'Sickle Cell Anemia'? Mhlawumbi eli gama livakala lingaqhelekanga, okanye liyoyikisa kancinci. Kodwa yimeko yemfuza enxulumene negazi lethu. Ngamafutshane, okwenzekayo koku kukuba iiseli zethu ezibomvu zegazi, oko kukuthi, iiseli ezibomvu egazini, ziyatshintsha ngokwemilo. Njengesikela (yiyo loo nto ibizwa ngokuba yi-'sikela'). Olu tshintsho lunokubangela iingxaki ezahlukeneyo zempilo. Ngoko ke, ngaba singathetha ngale nto ngokweenkcukacha namhlanje?

Yintoni iSickle Cell Anemia? Kwenzeka ntoni kanye kanye?

I-Sickle cell anemia yinto oogqirha abayibiza ngokuba lolona hlobo lubi kakhulu lweqela elikhulu elibizwa ngokuba yi-'Sickle Cell Disease'. Esi sisifo segazi esizalwa naso, oko kukuthi, isifo segazi esizuzwe njengelifa . Isizathu esiphambili soku kukuguquka kwemfuza. Ngenxa yolu tshintsho lwemfuza, iiseli ezibomvu zegazi eziveliswa emzimbeni wethu aziqhelekanga ukuba zingqukuva, kodwa zigobile kwaye zolulwe njengesikela (kwimo yoonobumba u-C). Oogqirha bakwabiza ezi "seli zesikela".

Ngoku khangela, iiseli zethu ezibomvu zegazi eziqhelekileyo zijikelezile kwaye ziguquguquka, ngoko ke zinokuhamba ngokulula kwimithambo yethu yegazi ethambileyo kwaye zithwale ioksijini kuyo yonke indawo yomzimba, kuwo onke amalungu omzimba, nakuwo onke amathishu. Kodwa ezi seli zibomvu zegazi ezimile okwesikela ziqinile kwaye zinamathela . Ngoko ke azihambi lula kwimithambo yegazi, kodwa zihlala zibambeke kwiindawo ezithile. Njengomxinano wezithuthi endleleni. Enye into kukuba, ezi seli 'zesikela' ziyawohloka kwaye zife ngokukhawuleza kuneeseli ezibomvu zegazi eziqhelekileyo. Ngenxa yako konke oku, inani leeseli ezibomvu zegazi ezisempilweni emzimbeni wakho liyancipha, okubangela i-anemia enzima. Oko kukuthi, ukunqongophala kwegazi.

Ngaphambili, iintsana ezizelwe nesi sifo zazinethuba eliphantsi kakhulu lokusinda zize zibe ngabantu abadala. Nangona kunjalo, ngenxa yokuqhubela phambili kwezonyango, ukufunyanwa kwangethuba, kunye nonyango olutsha , oku kutshintshe kakhulu. Abantu abaninzi ngoku baphila iminyaka engama-50 nangaphezulu.

Sixhaphake kangakanani esi sifo eSri Lanka? Ngubani onokuba naso ngakumbi?

Kunzima ngokwenene ukufumana izibalo ngesi sifo eSri Lanka. Kodwa xa ujonga ihlabathi, esi sifo sixhaphake kakhulu kubantu baseAfrika, eMzantsi Yurophu, eMbindi Mpuma okanye base-Asia abangamaNdiya. Oko kuthetha ukuba kukho unxibelelwano oluthile lwemfuza.

Zithini iimpawu ze-sickle cell anemia?

Iimpawu zesi sifo zingahluka kumntu nomntu, kodwa kukho ezinye iimpawu eziqhelekileyo:

• Ukudinwa okubangelwa kukungafumani gazi: Xa le meko isenzeka kwiintsana ezincinci, zinokukhala rhoqo, zizive zingaphilanga, kwaye zingavumi ukuncancisa.
• Usulelo oluqhelekileyo:Esi sifo siyonakalisa i-spleen yethu. I-spleen yinxalenye ebalulekileyo yenkqubo yethu yokuzikhusela komzimba. Ngoko ke xa ibuthathaka, kukho ithuba elikhulu lokufumana izifo kunye nosulelo. Nangona kunjalo, ngenxa yamayeza okubulala iintsholongwane kunye neegonyo ezikhoyo ngoku, le ngozi incitshisiwe kakhulu.
• Intlungu: Le yenye yezona mpawu ziqhelekileyo nezingathandekiyo zesi sifo. Izicubu zomzimba azifumani ioksijini eyaneleyo, nto leyo ebangela umonakalo kwizicubu. Lo monakalo yiwo obangela intlungu. Iindawo eziqhelekileyo zentlungu ziingalo, imilenze, isifuba, nomqolo. Ngamanye amaxesha inokuqala njengentlungu encinci ize inyuke kancinci kancinci, okanye inokuba yintlungu enganyamezelekiyo ngequbuliso.
• Ukudumba okubuhlungu ezandleni nasezinyaweni: Olu lolunye lweempawu zokuqala ze-sickle cell anemia kumntwana. Ukudumba kwenzeka kuba iiseli zegazi ezibomvu ezimile okwesickle zinamathela kwimithambo yegazi ethambileyo ezandleni nasezinyaweni zomntwana, nto leyo ethintela ukuhamba kwegazi.
• Amehlo nolusu olunombala otyheli oluvela kwi-jaundice: Isibindi sethu sinoxanduva lokucoca iiseli ezibomvu zegazi. Kwi-sickle cell anemia, into ebizwa ngokuba yi-bilirubin, ekhutshwa kwiiseli ze-sickle ezifa ngokukhawuleza, iqokelelana emzimbeni, ibangele i-jaundice.

Ezi mpawu zihlala ziqala ukubonakala xa umntwana eneminyaka emalunga ne-6 ukuya kwe-9 ubudala . Ekuhambeni kwexesha, njengoko inani leeseli ezingaqhelekanga (ezinobungozi) emzimbeni lisanda, iimpawu zinokutshintsha kwaye zibe nzima ngakumbi.

Kutheni kuvela i-sickle cell anemia? Yintoni ebangela oku?

I-Sickle cell anemia ibangelwa kukuguquka kwezakhi zofuzo kwiijini zethu. Ngokukodwa, kukho ijini ebizwa ngokuba yi-HBB gene. Le jini isiyalela ukuba senze iproteni ebizwa ngokuba yi-beta-globin, eyinxalenye ye-hemoglobin yethu. Njengoko usazi, i-hemoglobin yeyona nto ibalulekileyo enceda iiseli zethu ezibomvu zegazi zithwale ioksijini.

Ngoko ke, ukuze ufumane i-sickle cell anemia, kufuneka uzuze i-gene efanayo eguquliweyo kumama wakho nakutata wakho . Ngamanye amaxesha, ukuba ufumana i-gene ezimbini eziguquliweyo kubazali bobabini, unokufumana ezinye iintlobo zesifo se-sickle cell, mhlawumbi ezingembi kangako. Oogqirha babiza ezi 'variant genetic mutations'.

Ziziphi iingxaki ezinokwenzeka ngenxa yale meko?

I-Sickle cell anemia inokubangela iingxaki ezinkulu, ngamanye amaxesha ezisongela ubomi . Umzekelo, abantu abanesifo badla ngokufuna unyango olungxamisekileyo kunye nokulaliswa esibhedlele, ingakumbi kwiimeko ezibizwa ngokuba yi-acute chest syndrome (ACS) kunye ne-vaso-occlusive crisis (VOC).

Kukho nezinye iingxaki:

• Isifo sezintso esingapheliyo: Le meko inokwenzeka xa izintso zingafumani ioksijini eyaneleyo, nto leyo ebangela umonakalo kwizicubu.
• Ii-retina ezihlukanisiweyo: Oku kunokwenzeka ukuba iiseli zesikele zivala imithambo yegazi elisweni.
• I-Priapism (ukuma okubuhlungu): Imeko ebangelwa kukuvaleka kwemithambo yegazi kwilungu lobudoda.
• Ukususwa kwe-splenic: Ukuba iiseli zesickle zivaleleke kwi-spleen kwaye zivale ukuhamba kwegazi, oku kunokubangela i-anemia ekhawulezileyo neqatha.
• Istroke: Nabani na one-sickle cell anemia, kwanabantwana abancinci ( istroke yabantwana), usemngciphekweni.

Yintoni i-Acute Chest Syndrome (ACS)?

Le yeyona ngxaki ixhaphakileyo ye-sickle cell anemia. Ikwangunobangela ophambili wokufa kwaye yeyona sizathu sesibini esiphambili sokulaliswa esibhedlele. Oku kwenzeka xa ii-sickle cells zihlangana kwaye zivale imithambo yegazi emiphungeni. Iimpawu ziquka:

• Intlungu yesifuba ngequbuliso.
• Ukukhwehlela.
• Ifiva.
• Ubunzima bokuphefumla.

Yintoni iVaso-occlusive Crisis (VOC)?

Kulapho iiseli zesikele zivala imithambo yegazi. Oogqirha bakwabiza oku ngokuthi "yingxaki yentlungu ebukhali." Kwi-VOC, iintlungu ezinganyamezelekiyo zinokwenzeka ezingalweni, emilenzeni, emqolo osezantsi, nasesiswini.

Ngamanye amaxesha oogqirha babiza ii-VOC ngokuthi "sisifo esingabonakaliyo." Kuba, kwiimeko ezininzi, uphawu olulodwa yintlungu. Akukho phawu lokwenzakala okanye esinye isifo. Kubuhlungu nje.

Unyango oluphambili lwale ntlungu inzima ziintlungu ze-opioid. Nangona kunjalo, ezinye izifundo zibonise ukuba le mfuneko ye-opioid inokukhokelela ekuzihlukaniseni nabantu kubantu abane-sickle cell anemia, nto leyo enokubangela ukudakumba kunye nokuxhalaba. Lo ngomnye umngeni onokujongana nawo xa uphila nesi sifo.

Sifunyaniswa njani esi sifo? (Ukuxilongwa)

Oogqirha bafumanisa i-sickle cell anemia ngokukuhlola kuqala. Basenokuziva i-spleen okanye isibindi sakho. Baza kubuza ngeempawu zakho, ingakumbi iintlungu ezingalweni nasemilenzeni yakho, nangesisu sakho. Baza kubuza nangezifo zakho zangaphambili kunye nokuba wakha wanayo na nayiphi na intsholongwane. Emva koko banokwenza uvavanyo olufana nolu:

• Ubalo lweGazi olupheleleyo (CBC): Oku kubandakanya iimvavanyo ezininzi ezijonga ngokukodwa iiseli zakho ezibomvu zegazi.
• I-Hemoglobin electrophoresis: Ikwabizwa ngokuba yi-high-performance liquid chromatography, olu vavanyo luhlalutya i-hemoglobin yakho ukuze kufunyanwe kwaye kulinganiswe uhlobo olungaqhelekanga lwe-hemoglobin olubangela i-sickle cell anemia.
• Uvavanyo lwemfuza: Ugqirha wakho unokuyalela olu vavanyo ukuze abone ukuba ngaba utshintsho lwemfuza lubangela i-sickle cell anemia lukhona na.

Zithini iindlela zokunyanga oku? Ngaba kunokunyangwa?

Unyango lwe-sickle cell anemia luxhomekeke kwiimpawu zakho kunye nempilo yakho iyonke. Umzekelo, ukuba uneengxaki ezinzima ezifana ne-acute chest syndrome, iziqendu ezihlala zisenzeka zentlungu enzima, okanye ukuba unesifo esifana nokungakhuli kakuhle, ugqirha wakho unokucebisa ukuba utyando lwe-allogeneic stem cell transplant. Okwangoku le yindlela ekuphela kwayo yokunyanga ngokupheleleyo i-sickle cell anemia .

Ezinye iindlela zonyango zezi:

• Utofelo-gazi.
• Ii-antibiotics zosulelo.
• Amayeza anceda iimpawu ezithile. Ezinye zazo zezi:
• I-Hydroxyurea: Eli liyeza elilwa nomhlaza. Lisetyenziswa kwiintsana eziphakathi kweenyanga ezi-6-9, abantwana, kunye nabantu abadala. Linganciphisa ukwanda kweengxaki ezinkulu kwaye linciphise iimpawu ze-anemia.
• I-Voxeletor: Oku kuthintela iiseli ezibomvu zegazi ukuba zingabi ziiseli zesikele. Inikwa abantwana abangaphezu kweminyaka emi-4 ubudala.
• Unyango lwe-L-glutamine: Olu nyango, olunikwa abantwana abangaphezu kweminyaka emi-5 ubudala kunye nabantu abadala, luthintela iiseli zesikele ekubeni zingasebenzi kakuhle.
• I-Crizanlizumab-tmca: Oku kunciphisa ukuxhaphaka kwe-VOC/iintlungu ezibukhali. Inikwa abantu abangaphezu kweminyaka eli-16 ubudala.

Ubomi bam buza kuba njani ukuba ndine-sickle cell anemia?

Kwabaninzi abantu, i-sickle cell anemia sisifo esingapheliyo . Oku kuthetha ukuba uya kufuna unyango kunye nenkxaso ubomi bakho bonke. Iimpawu zinokuba buthathaka kwabanye, zibe phakathi kwabanye, kwaye zibe yingozi kakhulu kwabanye. Imeko yomntu wonke yahlukile. Ngoko ke thetha nogqirha wakho malunga nento omawuyilindele. Uyazi kakuhle impilo yakho kunye nendlela esi sifo esiya kukuchaphazela ngayo.

Ingaba le meko iya isiba mandundu njengoko ukhula?

Ewe, njengoko sikhula, ezinye iingxaki zempilo ezinokuba zimbi kakhulu zinokuvela ngenxa yokuhanjiswa kweoksijini ngokwaneleyo kwizitho zomzimba nakwizicwili. Abantu abane-sickle cell anemia basengozini enkulu yokukhubazeka, imiphunga, izintso, ipleyini kunye nomonakalo wesibindi.

Ingakanani imilinganiselo yokuphila yomntu onesi sifo?

Izinto zingcono kakhulu ngoku kunangaphambili. Ngokufunyanwa kwangoko kunye nonyango lokunciphisa iingxaki , abantu abane-sickle cell anemia banokuphila bade bafikelele kwiminyaka yabo engama-50. Abanye abantu baphila ixesha elide nangakumbi. Ukuba unemibuzo malunga noku, thetha nogqirha wakho. Angakuxelela.

Ngaba ikho indlela yokuthintela ukuba esi sifo singabikho?

I-Sickle cell anemia sisifo esidluliselwa kwilifa, ngoko ke asinakuthintelwa.Nangona kunjalo, ungavavanywa igazi ukuze ubone ukuba unayo na i-genetic mutation ebangela i-sickle cell anemia. Kumazwe amaninzi aphuhlileyo, umntwana ngamnye uvavanywa esi sifo xa ezalwa. Eyona nto ibalulekileyo kukufumanisa isifo kwangethuba kwaye uqale unyango .

Ndingaphila njani kakuhle nesi sifo? (Ukuzinyamekela)

Unyango olutsha luye lwavumela abantu abane-sickle cell anemia ukuba baphile ubomi obungcono kakhulu. Ukuba unesifo, cinga ngezi zinto:

• Funa unyango olukhethekileyo: Kubalulekile ukufuna unyango kwiqela leengcali zegazi.
• Fumana uhlolo lwezonyango rhoqo: Ukugcina ubudlelwane obuhle nogqirha wakho wosapho kunye nokuya kuhlolwa rhoqo kunokunceda ukuthintela iingxaki ezinkulu.
• Cinga ngolawulo lweentlungu: Iintlungu ziyinxalenye eqhelekileyo yesi sifo. Funa ingcebiso kwingcali yolawulo lweentlungu.
• Fumana inkxaso yempilo yengqondo: Ngamanye amaxesha esi sifo sinokubangela iimvakalelo zokuba wedwa, ukudakumba, kunye nokuxhalaba. Ukuba uvakalelwa ngolu hlobo, thetha nogqirha.
• Zikhusele kwiintsholongwane: Thetha nogqirha wakho malunga nokugonywa. Thatha amanyathelo okuzikhusela kwiintsholongwane.
• Lumka kwindawo okuyo: Kubaluleke kakhulu kubantu abane-sickle cell anemia ukugcina ubushushu bomzimba bulungelelene. Zigcine kude nobushushu obugqithisileyo kunye neendawo ezibandayo.
• Jonga uvavanyo lweklinikhi: Oogqirha nabaphandi bahlala bevavanya unyango olutsha. Usenokuba nethuba lokubandakanyeka kolunye.

Ndifanele ndimbone nini ugqirha?

Ukuba uziva ngathi iimpawu zakho ziya zisiba mandundu, okanye ukuba ubonakalisa iimpawu ezintsha, bonana nogqirha ngoko nangoko .

Kufuneka uye nini kwiGumbi loNgxamiseko?

I-Sickle cell anemia ingabangela izifo ezinzulu. Yiya kwigumbi longxamiseko ngokukhawuleza ukuba unenye yezi mpawu:

• Iimpawu ze-anemia (ukudinwa kakhulu, ukuphefumla kancinci, ukubetha kwentliziyo okungahambelaniyo).
• Umkhuhlane ongaphezulu kwama-38.5 degrees Celsius (101.3 Fahrenheit).
• Iintlungu zesifuba.
• Ukukhwehlela.

Le meko ikwanyusa umngcipheko westroke. Istroke yingxamiseko yezonyango . Ukuba uneempawu ezilandelayo, yiya esibhedlele ngokukhawuleza:

• Iingxaki ngokulinganisela komzimba okanye ukulungelelaniswa kwawo.
• Umbono ofipheleyo okanye umbono ophindwe kabini.
• Ukudideka.
• Ubuthathaka okanye ukuba ndindisholo kwelinye icala lomzimba.
• Ubunzima bokuthetha (ukuthintitha).

Okokugqibela, izinto ezimbalwa ekufuneka uzikhumbule

I-Sickle cell anemia yimeko enzima ngokwenene. Kwiminyaka eyadlulayo, abantwana abazalwa benesi sifo babengenathemba lingako lokusinda. Kodwa,Uphando lwezonyango lwenze inkqubela enkulu kwiminyaka elishumi edlulileyo okanye ngaphezulu, ngoko ke abantu abaninzi ngoku bayakwazi ukulawula esi sifo singapheliyo kwaye baphila ubomi obuhle.

Ukuba wena okanye umntwana wakho unesi sifo, ngelixa wonwabile ngenkqubela oyenzileyo kwixesha elidlulileyo, yiba nethemba ngekamva. Abaphandi bahlala bezama ukufumana unyango olutsha lwesi sifo. Thetha nogqirha wakho kwaye uqaphele iimvavanyo ezintsha zeklinikhi. Ungaze ulahle ithemba . Kubaluleke kakhulu ukulandela iingcebiso zonyango ezifanelekileyo kwaye ube nesimo sengqondo esihle.

I- Sickle cell anemia, i-anemia, izifo ezizuzwa njengelifa, izifo zegazi, utshintsho lwemfuza, i-hemoglobin, iingcebiso zempilo