Isifo se-anemia yesifo

Isifo se-Sickle cell yisifo segazi esidluliselwa ezizukulwaneni ngezizukulwane. I-Hemoglobin enamaphutha kuwuphawu. Lena iphrotheni esemangqamuzaneni abomvu egazi ahambisa umoya-mpilo ezicutshini zomzimba. Ngenxa yalokho, isifo se-sickle cell sivimbela umoya-mpilo ekufinyeleleni ezicutshini.

Amangqamuzana abomvu egazi avamile ane-hemoglobin abushelelezi, amise okwe-disk, futhi avumelana nezimo, njengamadonadi angenazimbobo. Angadlula kalula emithanjeni yegazi. I-sickle cell hemoglobin yenza amangqamuzana aqine futhi anamathele. Lapho ephelelwa umoya-mpilo, akha isikela noma umumo ocwebile, ofana nohlamvu C. La mangqamuzana anqwabelana futhi enze kube nzima ngawo ukuba adlule emithanjeni yegazi. Lokhu kungase kuvimbe ukugeleza kwegazi elinempilo, eliphethe umoya-mpilo emithanjeni emincane yegazi. Ukuvinjwa kungase kubangele ukungakhululeki.

Amangqamuzana egazi abomvu anesikhathi sokuphila esingafika ezinsukwini eziyi-120. Ngakolunye uhlangothi, ama-sickle cell aphila izinsuku ezingu-10 kuya kwezingu-20 kuphela. Ngenxa yesimo nokuqina kwawo, ama-sikela cell angase akhishwe ubende. I-spleen isiza ekuhlungeni amagciwane asuka ekujikelezeni kwegazi. Lesi sihlungi sivalela amaseli ane-sickled, awenze abhubhe. I-anemia engapheli kwenzeka lapho amangqamuzana egazi abomvu enempilo entuleka. Ubende nalo ulinyazwa ama-sickled cells. Ngenxa yalokho, usengozini yokuthola izifo.

Izinkinga ze-sickle cell anemia

Ukuguqulwa kofuzo okubonisa umzimba wakho ukuthi ukhiqize isakhi esinothe ngensimbi esenza igazi libebomvu futhi livumele amangqamuzana egazi abomvu ukuthi adlulisele umoya-mpilo emaphashini akho kuwo wonke umzimba wakho kubangela i-sickle cell anemia (i-hemoglobin). I-hemoglobin enesici ku-sickle cell anemia ibangela amangqamuzana egazi abomvu ukuba aqine, anamathele futhi angasebenzi kahle.

Ukuze ingane ithinteke, uhlobo olunephutha lofuzo kufanele ludluliselwe kubazali bobabili.

Uma umzali oyedwa kuphela ethwala isakhi sofuzo se-sickle cell emntwaneni wakhe, osemncane uyozuza lesi sici. Abantu abanesici se-sickle cell bakhiqiza kokubili i-hemoglobin evamile ne-sickle cell ngoba banofuzo olulodwa oluvamile nolulodwa olunephutha.

Bangase babe nama-sickle cell egazini labo, kodwa ngokuvamile awabonakali. Noma kunjalo, bangabathwali bezifo, okusho ukuthi bangadlulisela isakhi sofuzo ezinganeni zabo.

Izimpawu ze-sickle cell anemia

Uhlu lwezimpawu nezinkinga ezihlobene nesifo se-sickle cell lunikezwe ngezansi. Izimpawu, ngakolunye uhlangothi, zingahluka kumuntu nomuntu. Okulandelayo ezinye zezimpawu ezingaba nezinkinga:

• Ukushoda kwegazi. Ngenxa yokuthi ama-sickled cells awahlala isikhathi esifushane noma ayabhujiswa, mancane amangqamuzana egazi abomvu atholakalayo emzimbeni. Lokhu kubangela i-anemia. I-anemia enzima ingakwenza uzizwe unesiyezi, uphelelwa umoya, futhi ukhathele.
• I-Pain crisis, noma i-sikela crisis. Lokhu kwenzeka lapho ukugeleza kwegazi kuvimbekile endaweni ngenxa yokuthi amangqamuzana e-sickled anamathele emithanjeni yegazi. Ubuhlungu bungenzeka noma kuphi, kodwa ngokuvamile buvela esifubeni, ezingalweni nasemilenzeni. Izinsana nezingane ezincane zingase zibe nokuvuvukala okubuhlungu kweminwe nezinzwane. Ukuphazamiseka kokugeleza kwegazi kungase futhi kubangele ukufa kwezicubu.
• I-acute chest syndrome. Lokhu kwenzeka lapho ukugula kwenzeka esifubeni. Lokhu kungase kube ukuphila engozini. Ngokuvamile kwenzeka ngokuzumayo, lapho umzimba ucindezelekile ngenxa yokutheleleka, imfiva, noma ukuphelelwa amanzi emzimbeni. Amangqamuzana anamasikela anamathelana futhi avimbe ukuhamba komoya-mpilo emithanjeni emincane emaphashini. Ifana nenyumoniya futhi ingahlanganisa imfiva, ubuhlungu, nokukhwehlela okunamandla.
• Ukuhlukaniswa kwe-splenic (ukuhlanganisa). Izinkinga ziwumphumela wokuhlangana kwama-sickle cell ku-spleen. Lokhu kungabangela ukwehla kungazelelwe kwe-hemoglobin futhi kungaba yingozi empilweni uma kungelashwa ngokushesha. Ubende nalo lungakhula futhi lube buhlungu ngenxa yokwanda komthamo wegazi. Ngemva kweziqephu eziphindaphindiwe, i-spleen iba nezibazi, futhi ilimale unomphela. Izingane eziningi, lapho zineminyaka engu-8 ubudala, azinawo umbende osebenzayo kusukela ekukhishweni kokuhlinzwa, noma eziqeshini eziphindaphindiwe zokuhlukaniswa kwe-splenic. Ingozi yokutheleleka iyinkinga enkulu yezingane ezingenawo ubende olusebenzayo. Ukutheleleka kuyimbangela enkulu yokufa kwezingane ezingaphansi kweminyaka engu-5 kulesi sibalo.
• Isibungu. Lena enye inkinga engazelelwe futhi enzima yabantu abanesifo se-sickle cell. Amaseli e-misshapen angavimba imithambo yegazi emikhulu enikeza ubuchopho umoya-mpilo. Noma yikuphi ukuphazamiseka kokugeleza kwegazi nomoya-mpilo kuya ebuchosheni kungaholela ekulimaleni okukhulu kwengqondo. Uma une-stroke eyodwa evela ku-sickle cell anemia, maningi amathuba okuba ube ne-stroke yesibili neyesithathu.
• I-jaundice, noma ukuphuzi kwesikhumba, amehlo, nomlomo. I-Jaundice uphawu oluvamile kanye nophawu lwesifo se-sikela. Ama-sickle cell awaphili isikhathi eside njengamaseli abomvu egazi avamile, ngakho-ke, afa ngokushesha kunokuba isibindi singawahlunga. I-Bilirubin (ebangela umbala ophuzi) kusuka kulawa maseli aphukile akheka ohlelweni okubangela i-jaundice.
• I-Priapism.  Lokhu kuwukuvinjwa okubuhlungu kwemithambo yegazi epipini ngama-sikela cell. Uma kungelashwa ngokushesha, kungaholela ekuphelelweni amandla.

Izimpawu zesifo se-sickle cell zingase zibukeke njengezinye izifo zegazi noma izinkinga zezokwelapha. Hlala uthintana nomhlinzeki wakho wokunakekelwa kwezempilo ukuze uthole ukuxilongwa.

Ukuxilongwa kwe-sickle cell anemia

Ungase uhlolwe igazi nokunye ngaphezu komlando wezokwelapha ophelele kanye nokuhlolwa komzimba.

Abaningi bathi bahlola izingane ngesifo se-sickle cell njalo ukuze ukwelashwa kuqale ngokushesha ngangokunokwenzeka. Izinkinga zingancishiswa uma zitholwa futhi zelashwa kusenesikhathi.

I-Hemoglobin electrophoresis ukuhlolwa kwegazi okungathola ukuthi umuntu unesifo se-sickle cell noma uma engumthwali we-sickle cell gene.

I-Sickle cell anemia ibangelwa uhlobo olunephutha lwe- haemoglobin, olungatholwa ngokuhlolwa kwegazi. Lokhu kuhlolwa kwegazi kuyingxenye yokuhlolwa okuvamile kwezingane ezisanda kuzalwa e-United States. Nokho, izingane ezindala kanye nabantu abadala nabo bangahlolwa.

Isampula yegazi ithathwa emthanjeni wengalo kubantu abadala. Isampula yegazi livame ukuthathwa emunweni noma esithendeni ezinganeni ezincane nasezinsaneni. Ngemva kwalokho, isampula ithuthelwa elabhorethri ukuze ihlolwe ukuthi ayinaphutha yini i-hemoglobin. Uma wena noma ingane yakho ine-sickle cell anemia, udokotela wakho angase atuse ukuhlolwa okwengeziwe ukuze akhiphe noma yikuphi ukukhathazeka okungase kube khona. Wena noma ingane yakho cishe nizoqondiswa kumeluleki wofuzo uma wena noma ingane yakho ninofuzo lwe-sickle cell.

Ukwelashwa kwe-sickle cell anemia 

Lapho unquma ukwelashwa okufanele, udokotela wakho uzocabangela iminyaka yakho, impilo yonke, nokunye okucatshangelwayo.

Ekulawulweni kwesifo se-sickle cell, ukutholakala kusenesikhathi nokugwema izinkinga kubalulekile. Umgomo wokwelapha uwukugwema ukulimala kwezitho zomzimba, njengokushaywa unhlangothi, kanye nokuvimbela ukutheleleka nokunciphisa izimpawu. Izindlela zokwelapha ezilandelayo zingasetshenziswa:

• Imithi yobuhlungu. Lokhu kungenxa yezinkinga ze-sickle cell.
• Ukuphuza amanzi amaningi nsuku zonke (8 kuya kweziyi-10 izingilazi). Lokhu okokuvikela nokwelapha izinkinga zobuhlungu. Kwezinye izimo, kungase kudingeke uketshezi olufakwa emthanjeni.  
• Ukumpontshelwa igazi. Lokhu kungasiza ekwelapheni i-anemia nokuvimbela isifo sohlangothi. Zibuye zisetshenziselwe ukuhlambulula i-hemoglobin ene-sickled nge-hemoglobin evamile ukwelapha ubuhlungu obungapheli, i-acute chest syndrome, i-splenic sequestration, nezinye izimo eziphuthumayo.
• Imithi yokugoma kanye nama-antibiotics. Lezi zisetshenziselwa ukuvimbela izifo.
• I-folic acid. I-Folic acid izosiza ekuvimbeleni i-anemia enzima.
• I-Hydroxyurea. Lo muthi usiza ukunciphisa imvamisa yezinkinga zobuhlungu kanye ne-acute chest syndrome. Kungase futhi kusize ekunciphiseni isidingo sokumpontshelwa igazi. Imiphumela yesikhathi eside yomuthi ayaziwa.
• Ukuhlolwa kwamehlo njalo. Lokhu kwenziwa ukuze kuhlolwe i-retinopathy.  
• Ukufakelwa komnkantsha. Ukufakelwa komnkantsha kungalapha abanye abantu abanesifo se-sickle cell. Isinqumo sokwenza le nqubo sisekelwe ebucayi besifo kanye nekhono lokuthola umnikezeli womnkantsha ofanelekayo. Lezi zinqumo zidinga ukuxoxwa nodokotela wakho futhi zenziwa kuphela ezikhungweni zezokwelapha ezikhethekile.

Ukufakelwa kwe-stem cell (okubizwa nangokuthi ukufakelwa komnkantsha) ukuphela kwekhambi elaziwayo lesifo se-sickle cell. Ukufakelwa kabusha kuyinkimbinkimbi futhi kuyingozi, futhi okwamanje kuyinketho yeziguli ezithile kuphela.

Ososayensi batadisha ukwelashwa kofuzo kwe-sickle cell anemia. Ngolunye usuku, kuthenjwa ukuthi odokotela banganqanda lesi sifo ngokushintsha noma ngokufaka isakhi sofuzo esingajwayelekile esisibangelayo.

Kodwa ngisho nangaphandle kokwelapha, izingane ezinesifo se-sickle cell zingaphila impilo evamile uma zilandela uhlelo lwazo lokwelapha.

Uhlelo lokwelapha lungase luhlanganise:

• Ukugonywa kanye nemithamo yansuku zonke ye-penicillin ukusiza ukuvimbela ukutheleleka. Izingane ezinesifo se-sickle cell kufanele zithole yonke imigomo enconywayo, kuhlanganise ne-pneumococcal, umkhuhlane, ne-meningococcal.
• Izithako ze-folic acid, ezingasiza izingane zenze amaseli abomvu egazi amasha.
• I-Hydroxyurea, umuthi owenza amaseli anganamatheli. Lokhu kusiza ukwehlisa ukuvama nokuqina kweziqephu ezibuhlungu nezinye izinkinga. IHydroxyurea ithathwa nsuku zonke.
• I-L-glutamine, omunye umuthi. Isetshenziswa uma i-hydroxyurea ingasebenzi kahle noma othile esenezinkinga zobuhlungu ngisho nange-hydroxyurea.
• Imithi yokusiza ukuphatha ubuhlungu uma kwenzeka.
• Ngezinye izikhathi, ukumpontshelwa igazi ngenxa ye-anemia enzima noma ezinye izinkinga