Ukuthi yini i-Hemochromatosis? Izimpawu, Izimbangela, Nokwelapha

I-Hemochromatosis yisimo lapho umzimba wakho uthatha insimbi eningi kakhulu ekudleni okuwudlayo. Esikhundleni sokukhipha insimbi engeziwe, umzimba wakho uyigcina ezingutsheni ezinjengomthondo, inhliziyo, ne-pancreas, okuyoqeda ekubeni yingozi uma kushiywa ingalashwa.

Cabanga ngakho njengeakhawunti yokonga engapheli ukuqoqa imali. Nakuba insimbi ibalulekile empilweni yakho, ukuba nayo eningi kakhulu kuyoqeda ekubeni yingozi ngokuhamba kwesikhathi. Izindaba ezinhle ukuthi ngokutholakala kwangaphambi kwesikhathi nokuphathwa okuqondile, abantu abaningi abane-hemochromatosis bangaphila impilo evamile, enempilo ngokuphelele.

Ziyini izimpawu ze-hemochromatosis?

Abantu abaningi abane-hemochromatosis abanawo noma yimiphi impawu ezingxenyeni zokuqala. Uma izimpawu zivele, zivame ukuthuthuka kancane kancane futhi zingase ziphuthelwe kalula njengezinye izinkinga zempilo ezivamile.

Nawa ama-symptom ongawaqaphela njengoba insimbi iqala ukwakheka emzimbeni wakho:

• Ukukhathala okuqhubekayo okungaphuli ngokuphumula
• Ubuhlungu bezingqondo, ikakhulukazi ezandleni nasemadolweni
• Ubuhlungu besisu, ikakhulukazi endaweni ephezulu ngakwesokudla
• Ukulahlekelwa isithakazelo ebuhlangwini noma ukungasebenzi kahle kobulili
• Ukushintsha kombala wesikhumba okubhentshwe noma oluhlaza
• Ukuwa kwezinwele okubonakala kungachazeki
• Ukushona kwenhliziyo noma ukushaya kwenhliziyo okungavamile
• Ukutheleleka okuvamile
• Izinkinga zememori noma ubunzima bokuqonda

Ezimweni eziphambili, ungase uhlushwe ukuphefumula okunzima, ukukhula okukhulu kwesisu, noma izimpawu zeshukela njengokomela okukhulu nokukhipha amanzi. Lezi zimpawu zivame ukuthuthuka ngemva kweminyaka yokwakheka kwensimbi, kungakho ukutholakala kwangaphambi kwesikhathi kubaluleke kangaka.

Ziyini izinhlobo ze-hemochromatosis?

Kunezinhlobo ezimbili eziyinhloko ze-hemochromatosis, nokuqonda ukuthi yiluphi uhlobo onalo kusiza ekutholeni indlela yokwelapha engcono kakhulu. I-Hemochromatosis eyinhloko iyifomu elidluliselwa ngezofu, kanti i-hemochromatosis yesibili ithuthukiswa ngenxa yezinye izimo zempilo.

I-Hemochromatosis eyinhloko ibangelwa ukuguqulwa kwe-genetic owuthola kubazali bakho. Uhlobo oluvamile kakhulu lubizwa ngokuthi yi-HFE hemochromatosis, ethinta iningi labantu abanesimo. Kukhona nezinye izinhlobo ze-genetic ezingavamile njenge-juvenile hemochromatosis, ebonakala ekuqaleni kokuphila futhi ithuthuka ngokushesha.

I-Hemochromatosis yesibili kwenzeka lapho ezinye izimo zenza insimbi iqale ukwakheka emzimbeni wakho. Lokhu kungenzeka ngenxa yokutholakala kwegazi okuphindaphindayo, izinhlobo ezithile ze-anemia, isifo somthondo esingamahlalakhona, noma ukuthatha izithasiselo zensimbi eziningi ngokuhamba kwesikhathi.

Yini ebangela i-hemochromatosis?

I-Hemochromatosis eyinhloko ibangelwa ukuguqulwa kwe-genetic okuthinta indlela umzimba wakho ulawula ngayo ukufunwa kwensimbi. Isono eliyinhloko yi-mutation ku-HFE gene, evame ukusiza ukulawula ukuthi ama-intestines akho athatha kangakanani insimbi ekudleni.

Uma le gene ingasebenzi kahle, umzimba wakho ucabanga ukuthi udinga insimbi eyengeziwe futhi uyaqhubeka uyithatha ekudleni kwakho. Ngezinye izinyanga neminyaka, le insimbi eyengeziwe iqala ukwakheka ezingutsheni zakho. Udinga ukudlulisela i-gene engalungile kubazali bobabili ukuze uthuthukise lesi simo, nakuba ukuba nokukopisha okukodwa kungase kubangele ukwanda okuncane kwensimbi.

Ngokungavamile, ukuguqulwa kwezinye i-genes njenge-TFR2, HAMP, noma i-HJV kungabangela izinhlobo ezahlukene ze-hereditary hemochromatosis. Lezi zinhlobo ezingavamile zivame ukubangela ukwakheka kwensimbi ukuthi kwenzeke ngokushesha, ngezinye izikhathi ngisho nasebuntwaneni noma ebudaleni.

I-Hemochromatosis yesibili ithuthukiswa lapho ezinye izimo zezokwelapha noma ukwelashwa kubangela ukwanda kwensimbi. Ukufakwa kwegazi okuvamile, izifo zegazi ezithile njenge-thalassemia, i-hepatitis C engapheli, noma ukusetshenziswa kotshwala isikhathi eside konke kungabangela ukugcinwa kwensimbi okukhulu emzimbeni wakho.

Nini okufanele ubona udokotela nge-hemochromatosis?

Kufanele ucabange ukuya kudokotela uma uhlushwa ukukhathala okuqhubekayo kanye nobuhlungu bezingqondo, ikakhulu uma lezi zimpawu zingenawo umbangela obonakalayo. Abantu abaningi bayazidela lezi zimpawu zokuqala njengokuguga okuvamile noma ukucindezeleka, kodwa kufanele kuphenywe.

Kubalulekile kakhulu ukuhlolwa uma unembali yomndeni we-hemochromatosis, isifo somthondo, ushukela, noma izinkinga zenhliziyo ezingase zibe nobudlelwano nokukhuphuka kwensimbi. Njengoba lesi isifo se-genetic, ukuhlola komndeni kungasithola ngaphambi kokuthi izimpawu zivele.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uqaphela ukushintsha kombala wesikhumba okubhentshwe noma oluhlaza, ubuhlungu besisu obukhulu, ukuphefumula okunzima, noma izimpawu zeshukela. Lezi zimpawu zibonisa ukwakheka kwensimbi okuphambili okudingayo ukuhlolwa nokuphathwa ngokushesha.

Ungalindi uma unezimpawu ezinkulu kanye nembali yomndeni yesimo. Ukutholakala kwangaphambi kwesikhathi nokuphathwa kungavimbela izinkinga ezinzima futhi kusize ugcine impilo enhle.

Ziyini izimbangela zingozi ze-hemochromatosis?

Ubungozi bakho bokuthuthukisa i-hemochromatosis kuncike kakhulu ku-genetics yakho nembali yomndeni. Ukuqonda lezi zimbangela zingozi kungakusiza wena nodokotela wakho unqume ukuthi ukuhlolwa kuyafaneleka yini kuwe.

Izimbangela eziyinhloko zingozi zihlanganisa:

• Ukuba nabazali noma abazalwane abane-hemochromatosis
• Ukuba ngumuntu waseYurophu enyakatho, ikakhulukazi uCeltic, ubuzwe
• Ukuba yindoda (amadoda athuthukisa izimpawu ngaphambi kwabesifazane)
• Ukuba ngumfazi osele eseminyakeni yokuqala uma ungumfazi
• Ukuba nezifo zegazi ezithile ezidinga ukufakwa kwegazi
• Isifo somthondo esingamahlalakhona esibangelwa noma yini
• Ukusetshenziswa kwesikhathi eside kwezithasiselo zensimbi ngaphandle kokunakekelwa kwezokwelapha

Amadoda avame ukuthuthukisa izimpawu phakathi kweminyaka engu-40-60, kanti abesifazane bavame ukungabonisi izimpawu kuze kube ngemva kokuphela kwesikhathi sabo sokuzala. Lokhu kwenzeka ngoba abesifazane bahlushwa insimbi ngokutholakala kwesikhathi sabo, okunikeza isivikelo semvelo ekuqaleni kwensimbi ngesikhathi seminyaka yabo yokuzala.

Ngisho noma unezimbangela zingozi ze-genetic, ukukhetha indlela yokuphila njengokulinganisela ukusetshenziswa kotshwala nokugwema izithasiselo zensimbi ezingadingekile kungasiza ekunciphiseni ubungozi bakho bezinkinga.

Ziyini izinkinga ezingase zenzeke nge-hemochromatosis?

Uma i-hemochromatosis ingalashwa iminyaka eminingi, insimbi eyengeziwe ingabangela umonakalo omkhulu ezingutsheni eziningi emzimbeni wakho. Izindaba ezinhle ukuthi ukwelashwa kwangaphambi kwesikhathi kungavimbela iningi lalezi zinkinga ngokuphelele.

Nawa ama-complications ayinhloko angathuthuka ngokuhamba kwesikhathi:

• Umonakalo womthondo, kufaka phakathi i-cirrhosis nokukhula kengozi yomdlavuza womthondo
• Izinkinga zenhliziyo njengokuhlukana okungavamile noma ukwehluleka kwenhliziyo
• Ushukela ovela ekulimala kwensimbi ku-pancreas
• I-Arthritis, ikakhulukazi ezandleni nasemadolweni
• Ukushintsha kombala wesikhumba okungase kube okungapheli
• Ukusebenza okungalungile kobulili nezinkinga zokuzala
• Izifo ze-thyroid
• Ukukhula kengozi yokutheleleka

Umthondo uvame ukuba yingxenye yokuqala ebonisa umonakalo omkhulu, kungakho ukulandelela okuvamile kubaluleke kangaka. Izinkinga zenhliziyo zingase zibe nzima kakhulu kodwa ziphinde zibe phakathi kwezinto ezivimbeka kakhulu ngokwelashwa okuqondile.

Iningi le-complications lingamiswa noma liphinde libuyiswe uma litholakala ngokushesha. Kungakho ukuhlola amalungu omndeni nokuqala ukwelashwa ngaphambi kokuthi izimpawu zivele kubaluleke kangaka.

I-Hemochromatosis ingavikeleka kanjani?

Njengoba i-hemochromatosis eyinhloko iyisimo se-genetic esidluliselwa ngezofu, awukwazi ukuvimbela lesi simo ngokwalo. Kodwa-ke, ungavimbela ngokuphelele izinkinga nezimpawu ngokutholakala kwangaphambi kwesikhathi nokukhetha indlela yokuphila.

Uma unembali yomndeni we-hemochromatosis, ukuhlolwa kwe-genetic nokulandelela okuvamile kwezinga lensimbi kungasithola lesi simo ngaphambi kokuba kube khona umonakalo wezingxenye zomzimba. Ukuqala ukwelashwa kwangaphambi kwesikhathi kusho ukuthi ungaphila impilo evamile ngokuphelele ngaphandle kokuthuthukisa izimpawu.

Unganciphisa ubungozi bakho bokukhuphuka kwensimbi ngokugwema izithasiselo zensimbi ezingadingekile, ukulinganisela izithasiselo ze-vitamin C (ezandisa ukufunwa kwensimbi), nokulinganisela ukusetshenziswa kotshwala. Lezi zinyathelo zibaluleke kakhulu uma uthwala ukuguqulwa kwe-genetic kwe-hemochromatosis.

Ukuvimbela i-hemochromatosis yesibili, sebenzisana nodokotela wakho ukuze ulawule noma yiziphi izimo ezingase zibangele ukwakheka kwensimbi, futhi uthathe izithasiselo zensimbi kuphela uma kudingeka ngokwelapha.

I-Hemochromatosis ihlonishwa kanjani?

Ukuhlonishwa kwe-hemochromatosis kuvame ukuqala ngezivivinyo zegazi ezilinganisa amazinga ensimbi yakho nokuthi umzimba wakho ugcina kangakanani insimbi. Lezi zivivinyo zilula, zishesha, futhi zikhokha kakhulu ekutholeni ukwanda kwensimbi.

Udokotela wakho cishe uzo-oda i-transferrin saturation test ne-ferritin test. I-transferrin saturation ibonisa ukuthi yingakanani insimbi esekhona egazini lakho, kanti i-ferritin ibonisa ukuthi yingakanani insimbi egcinwe emzimbeni wakho. Amazinga aphezulu kuzo zombili lezi ziviniyo abonisa i-hemochromatosis.

Uma izivivinyo zakho zegazi zibonisa amazinga aphezulu ensimbi, ukuhlolwa kwe-genetic kungakuqinisekisa ukuthi unefomu elidluliselwa ngezofu le-hemochromatosis. Lokhu kuhilela ukuhlolwa okulula kwegazi okubuka ukuguqulwa kwe-genes elawula ukufunwa kwensimbi.

Ezimweni ezithile, udokotela wakho angase acele ezinye izivivinyo njenge-MRI ukulinganisa amazinga ensimbi emthondweni wakho, noma ngokungavamile, i-liver biopsy ukuhlola noma yimuphi umonakalo. Lezi zivivinyo zisiza ekuqondeni ukuthi lesi simo siphambili kangakanani futhi ziqondise izinqumo zokwelapha.

Yini ukwelashwa kwe-hemochromatosis?

Ukwelashwa okuyinhloko kwe-hemochromatosis kulula kakhulu futhi kuphumelela kakhulu: ukususa igazi njalo emzimbeni wakho ngenqubo ebizwa ngokuthi yi-phlebotomy. Lokhu kufana kakhulu nokunikela igazi, kodwa kwenziwa ngokukhethekile ukunciphisa amazinga ensimbi yakho.

Ekuqaleni, ungase udinga i-phlebotomy kanye noma kabili ngesonto kuze kube yilapho amazinga ensimbi yakho ebuyela ezingeni elivamile. Lokhu kuvame ukuthatha izinyanga ezimbalwa kuya kuminyaka, kuye ngokuthi yingakanani insimbi eyengeziwe umzimba wakho uyigcinile. Uma amazinga akho eqala ukulingana, cishe uzodinga i-phlebotomy yokugcina yonke izinyanga ezimbalwa.

Ukwelashwa kuvame ukutholakala kahle, futhi abantu abaningi bazizwa bekhulu kakhulu njengoba amazinga ensimbi abo ephucuka. Ukukhathala kwakho kuvame ukunciphisa, ubuhlungu bezingqondo bungase buthuthuke, kanti ubungozi bakho bezinkinga buyahlala buhla.

Kubantu abangakwazi ukuthola i-phlebotomy ngenxa yezinye izimo zempilo, udokotela wakho angase a-prescribe i-iron chelation therapy. Lezi zidakamizwa zisiza umzimba wakho ukuba ususe insimbi eyengeziwe ngomchamo noma ngezisu, nakuba zivame ukugcinelwa izimo ezikhethekile.

Indlela yokuphatha i-hemochromatosis ekhaya?

Ukuphatha i-hemochromatosis ekhaya kuhilela ukwenza izinqumo ezinhle zokudla nokwenza izinguquko zendlela yokuphila ezisekela ukwelashwa kwakho. Lezi zinguquko zingasiza ekuthuthukiseni amazinga ensimbi yakho nokuthuthukisa indlela ozizwa ngayo usuku nosuku.

Linganisela ukudla okune-iron eningi kakhulu, ikakhulukazi inyama ebomvu, inyama yezingxenye zomzimba, nama-cereal ahlanganiswe insimbi. Awudingi ukususa lezi zinto zokudla ngokuphelele, kodwa ukulinganisela kusiza ukwelashwa kwakho ukusebenza kahle.

Gwema ukuthatha izithasiselo zensimbi noma ama-multivitamins ane-iron ngaphandle uma kunconywe ngudokotela wakho. Futhi, linganisela izithasiselo ze-vitamin C, njengoba i-vitamin C iyakhuphula ukufunwa kwensimbi ekudleni.

Cabanga ukuphuza itiye noma ikhofi ngesikhathi sokudla, njengoba lezi zinto zokuphaphama zinganciphisa ukufunwa kwensimbi. Ukulinganisela ukusetshenziswa kotshwala noma ukugwema ngokuphelele kusiza futhi ekuvikeleni umthondo wakho futhi kusekela uhlelo lwakho lokwelapha ngokuphelele.

Kufanele ulungiselele kanjani i-appointment yakho yodokotela?

Ngaphambi kwe-appointment yakho, buza ulwazi mayelana nembali yomndeni wakho yezokwelapha, ikakhulukazi noma yimiphi amalungu omndeni ane-liver disease, ushukela, izinkinga zenhliziyo, noma i-hemochromatosis eyaziwayo. Lolu lwazi lusiza udokotela wakho ukuthi ahlole ubungozi bakho futhi ahlele ukuhlolwa okuqondile.

Yenza uhlu lwezimpawu zakho zamanje, kufaka phakathi ukuthi zaqala nini nokuthi zikuthinta kanjani impilo yakho yansuku zonke. Ungakhohlwa ukukhuluma ngokukhathala, ubuhlungu bezingqondo, ukushintsha kombala wesikhumba, noma noma yiziphi ezinye izinkinga, ngisho noma zibonakala zingenawo ubudlelwano.

Letha uhlu oluphelele lwezidakamizwa, izithasiselo, nama-vitamins owuthathayo. Faka noma yiziphi izithasiselo zensimbi, ama-multivitamins, noma ama-herbal remedies, njengoba lezi zingathinta amazinga ensimbi yakho.

Lungiselela imibuzo mayelana nesimo, izinketho zokwelapha, nokuthi yini okulindelekile ngokuhamba kwesikhathi. Buza ngezincomo zokuhlola umndeni nokuthi ukwelulekwa kwe-genetic kungase kube usizo yini kuwe namalungu omndeni wakho.

Yini okufanele uyikhumbule nge-hemochromatosis?

I-Hemochromatosis yisimo esilawuleka kakhulu uma kutholakala kwangaphambi kwesikhathi futhi kuphathwa kahle. Ngokuphindaphindwa kwe-phlebotomy nokwenza izinguquko ezifanele zendlela yokuphila, abantu abaningi abane-hemochromatosis bangaphila impilo evamile, enempilo ngaphandle kokuthuthukisa noma yiziphi izinkinga.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukutholakala kwangaphambi kwesikhathi kwenza umehluko. Uma unembali yomndeni yesimo noma uhlushwa ukukhathala okuqhubekayo nobuhlungu bezingqondo, ungangabazi ukuxoxa ngokuhlolwa nodokotela wakho.

Ukwelashwa kulula futhi kuphumelela kakhulu, futhi uma uqala ngokushesha, i-outlook yakho yesikhathi eside iyoba ngcono. Abantu abaningi bazizwa bekhulu kunangaphambili uma amazinga ensimbi abo elawulwa kahle.

Imibuzo evamile ebuzwayo mayelana ne-hemochromatosis

Ingaphiliswa yini i-hemochromatosis?

Nakuba ayikho impilo yesimo se-genetic ngokwalo, i-hemochromatosis ingalawulwa ngokuphelele ngokwelashwa okuqondile. I-Phlebotomy eqondile ilawula amazinga ensimbi futhi ivimbela izinkinga. Abantu abaningi abane-hemochromatosis elawulwa kahle baphila impilo evamile, enempilo ngaphandle kwezimpawu noma imingcele.

Ngamakhandlela mangaki ngizodinga ukwelashwa kokususa igazi?

Ekuqaleni, ungase udinga i-phlebotomy kanye noma kabili ngesonto kuze kube yilapho amazinga ensimbi yakho eqala ukulingana, okuvame ukuthatha izinyanga eziyi-6-12. Ngemva kwalokho, abantu abaningi badinga ukwelashwa kokugcina yonke izinyanga eziyi-2-4. Udokotela wakho uzoqapha amazinga ensimbi yakho futhi alungise ubukhulu ngokusekelwe ezidingweni zakho.

Ingabe abantwana bami bazodlulisela i-hemochromatosis?

Uma une-hemochromatosis, ngamunye wabantwana bakho unethuba elingu-25% lokuthola lesi simo uma umlingani wakho futhi ethwala i-gene mutation. Kodwa-ke, ukuphatha ikhophi elilodwa le-gene (ukuba ngumthwali) ngokuvamile akubangeli izinkinga. Ukwelulekwa kwe-genetic kungakusiza uqonde ubungozi nezinketho zokuhlola zomndeni wakho.

Nginganikela yini igazi lami ngesikhathi sokwelashwa kwe-phlebotomy?

Ezindaweni eziningi, igazi elisusiwe ngesikhathi sokwelashwa kwe-phlebotomy ye-hemochromatosis linganikelwa kuma-blood banks, lisize abanye abantu ngesikhathi sokwelapha isimo sakho. Lokhu kwenza ukwelashwa kwakho kube usizo kokubili kuwe nabanye abadinga ukufakwa kwegazi. Xhumana nesikhungo sakho sokwelapha mayelana nezinhlelo zokunikela endaweni yakho.

Ingabe i-hemochromatosis ihlobene ne-anemia?

I-Hemochromatosis empeleni iyiphambene ne-anemia. Nakuba i-anemia isho ukuthi awunayo insimbi eyanele, i-hemochromatosis isho ukuthi une-iron eningi egcinwe emzimbeni wakho. Kodwa-ke, abanye abantu abanezinhlobo ezithile ze-anemia abamukela ukufakwa kwegazi okuvamile bangathuthukisa ukwanda kwensimbi yesibili, okudingayo izindlela ezifanayo zokwelapha.