Izinto okudingeka uzazi nge-Thalassemia: Ake sixoxe ngakho kalula

Ingabe uhlala uzizwa ukhathele futhi ukhathele? Mhlawumbe isikhumba sakho simhlophe kancane? Lezi akuzona nje izinto ezingahleliwe, mhlawumbe lokhu kuntuleka kwegazi, okungukuthi, ukuntuleka kwegazi, kungabangwa yilokhu. Namuhla sikhuluma nge-'Thalassemia', isifo sokuzalwa esihlobene negazi, esivame kubantu abaningi ezweni lakithi. Ungesabi uma uzwa leli gama. Masiqonde konke ngalokhu kalula.

Iyini ngempela i-Thalassemia?

Kalula nje, i-thalassemia isifo segazi esizuzwa njengefa esizuzwa kusukela ekuzalweni . Akusona isifo esithelelanayo. Lesi simo sivimbela imizimba yethu ekukhiqizeni i-hemoglobin eyanele enempilo.

Manje ungase uzibuze ukuthi iyini i-hemoglobin. I-hemoglobin iyiprotheni ekhethekile etholakala ngaphakathi kwamaseli ethu abomvu egazi. Isebenza 'njengesevisi yokulethwa' ethwala umoya-mpilo emizimbeni yethu yonke. Leli phakethe elibizwa ngokuthi i-hemoglobin lilethwa kuwo wonke amaseli emzimbeni yizimoto ezibizwa ngamaseli abomvu egazi.

Umuntu one-thalassemia ukhiqiza i-hemoglobin enempilo enciphile emzimbeni wakhe. Ngakho-ke, inani lamaseli abomvu egazi anempilo emzimbeni nalo liyancipha. Lesi simo samaseli abomvu egazi anciphile yilokho esikubiza ngokuthi i-anemia , noma 'ukuntuleka kwegazi'. Lapho amaseli omzimba engawutholi umoya-mpilo awudingayo, izimpawu ezahlukahlukene ziqala ukuvela.

Lokho kusho ukuthi ungase uzizwe izinto ezinjengalezi:

• Ukuzizwa ukhathele kakhulu futhi ukhathele njalo.
• Ubunzima bokuphefumula.
• Ukuzizwa ubanda.
• Ukuzizwa unesizungu.
• Isikhumba esimpunga.

Yini ebangela i-thalassemia? Ubani osengozini enkulu?

I-Thalassemia ibangelwa yiphutha elisezakhini zethu zofuzo. Cabanga ngalezi zakhi zofuzo 'njengekhodi yohlelo' equkethe imiyalelo yokuthi konke okusemzimbeni wethu kufanele kwakhiwe kanjani. Iphrotheni ye-hemoglobin yakhiwa ngokwemiyalelo evela kulezi zakhi zofuzo. Uma kukhona okungahambi kahle ngale miyalelo, noma uma ingxenye yazo ingekho, umzimba awukwazi ukwenza i-hemoglobin enempilo. Sizuza lezi zakhi zofuzo ezinephutha kubazali bethu. Yingakho kubizwa ngokuthi isifo esizuzwe njengefa.

I-molecule ye-hemoglobin yakhiwe ngamaketanga amane amaprotheni: amaketanga amabili e-alpha globin kanye namaketanga amabili e-beta globin.

• Kudingeka izakhi zofuzo ezine ukuze kwenziwe i-alpha globin chains (ezimbili ezivela kumzali ngamunye).
• Kudingeka izakhi zofuzo ezimbili ukuze kwenziwe i-beta globin chains (eyodwa evela kumzali ngamunye).

Uma kukhona iphutha kuma-gene enza la ma-alpha noma ama-beta chain, kuvela i-thalassemia. Ubunzima besifo bunqunywa inani lama-gene anephutha.

Yiziphi izinhlobo eziyinhloko ze-thalassemia?

I-Thalassemia ingahlukaniswa ngezigaba eziningana eziyinhloko ngokusekelwe ebunzimeni besifo. Okusho ukuthi, ingahluka kusukela esimweni sokuthwala izimpawu (isici), kuya kokuncane, okuphakathi, kanye nokukhulu. Uhlobo olubi kakhulu, i-Thalassemia Major, ngokuvamile ludinga ukwelashwa okuqhubekayo.

I-Thalassemia ihlukaniswe ngezinhlobo ezimbili eziyinhloko, kuye ngokuthi iphutha lofuzo lisezintanjeni ze-alpha noma ze-beta.

1. I- Alpha Thalassemia

2. I -Beta Thalassemia

Ake siqonde lezi zinhlobo ezimbili ngokuningiliziwe kusukela kuthebula elingezansi.

Yiziphi izimpawu ezingaba khona ze-thalassemia?

Izimpawu ozibonayo zincike ohlotsheni lwe-thalassemia onayo kanye nobunzima bayo.

Amacala angenazo izimpawu

Uma unesici esisodwa se-alpha gene noma isimo esincane njenge-beta thalassemia minor, ungase ungabi nazimpawu nhlobo . Noma ungase uzizwe sengathi ukhathele kancane.

Izimpawu ezithambile neziphakathi nendawo

Ezimweni ezingatheni kakhulu, njenge-beta thalassemia intermedia, ngaphezu kwezimpawu ze-anemia ezincane, okulandelayo kungenzeka:

• Ukukhula kancane kwezingane.
• Ukuthomba okulibazisekile.
• Ukukhubazeka kwamathambo (isib. i-osteoporosis).
• Ukwanda kwe-spleen (lesi isitho esilwa nezifo).

Izimpawu ezinkulu

Ezimweni ezinzima, njengokukhubazeka kwezakhi zofuzo ezintathu ze-alpha (isifo se-Hemoglobin H) noma i-beta thalassemia major (i-Cooley's anemia), izimpawu zivela ngaphambi kokuba ingane ibe neminyaka emi-2 ubudala. Ngaphezu kwezimpawu ezingenhla, okulandelayo kungabonakala:

• Ukulahlekelwa yisifiso sokudla.
• Isikhumba esikhanyayo noma esiphuzi (njenge-jaundice).
• Umchamo omnyama, onombala wetiye .
• Ukukhula okungavamile kwamathambo obuso.

Ungasibona kanjani lesi sifo ngokunembile?

I-thalassemia ephakathi nendawo futhi enzima ivame ukutholakala ebuntwaneni. Lokhu kungenxa yokuthi izimpawu ziqala ukuvela eminyakeni emibili yokuqala yokuphila kwengane. Udokotela wakho angase akucele ukuhlolwa kwegazi okuhlukahlukene ukuze kutholakale lesi simo.

• Ukubalwa Kwegazi Okuphelele (i-CBC): Lokhu kulinganisa inani lamaseli abomvu egazi, usayizi wawo, kanye namazinga e-hemoglobin. Abantu abane-thalassemia banamaseli abomvu egazi ambalwa anempilo, futhi bangase babe mancane ngobukhulu.
• Ukuhlolwa kwezinga lensimbi: Lokhu kuhlolwa kubalulekile ukuze kuhlukaniswe phakathi kokuntuleka kwensimbi kanye ne-thalassemia.
• I-Hemoglobin Electrophoresis: Lokhu kuhlolwa kusetshenziselwa ngqo ukuxilonga i-beta thalassemia.
• Ukuhlolwa Kwezakhi Zofuzo: Lezi zivivinyo zisetshenziselwa ukuqinisekisa i-alpha thalassemia nokuhlonza abathwali besifo.

Yiziphi izindlela zokwelapha i-thalassemia?

Izinketho zokwelapha zincike ebunzimeni besimo. Amacala amancane avame ukungadingi ukwelashwa. Kodwa-ke, kunezindlela eziningana zokwelapha eziyinhloko zamacala abucayi.

• Ukumpontshelwa Igazi: Kalula nje, 'ukunikela ngegazi' . Igazi elivela kumuntu ophilile linikezwa isiguli ngomthambo ukuze kubuyiselwe amangqamuzana abomvu egazi aphilile kanye namazinga e-hemoglobin. Iziguli ezine-beta thalassemia major zidinga ukumpontshelwa igazi njalo, ngokuvamile njalo emavikini ama-2-4.
• Ukwelashwa Nge-Iron Chelation: Ukumpontshelwa igazi njalo kungabangela ukwanda okungadingekile kwamazinga e-iron emzimbeni. Lokhu kubizwa ngokuthi 'ukugcwala kwe-iron'. Le i-iron eningi ingalimaza izitho ezifana nenhliziyo nesibindi. Ngakho-ke, imithi esusa le i-iron eningi emzimbeni ibizwa ngokuthi 'i-iron chelation'. Le mithi ingathathwa ngesimo samaphilisi.
• Izithasiselo ze-Folic Acid: I-Folic acid inikezwa ukusiza umzimba ukuthi wakhe amangqamuzana egazi anempilo.
• Ukufakelwa Umongo Wethambo: Lokhu ukuphela kokwelashwa okungayelapha ngokuphelele i-thalassemia . Kodwa-ke, kuwukuhlinzwa okuyingozi kakhulu futhi okuyinkimbinkimbi. Lokhu kudinga umnikeli onempilo ohambisana ngokuphelele nesiguli, ngokuvamile umfowabo nodadewabo.

Funda ngezinkinga, ukwelashwa, kanye nempilo yakho.

Uma kungelashwa kahle, inkinga enkulu ukulimala kwezindlala zenhliziyo, isibindi kanye nama-hormone, ikakhulukazi ngenxa yokusetshenziswa ngokweqile kwensimbi. Ngakho-ke, njengoba kuyalelweUkwelashwa nge-iron chelation kubaluleke kakhulu.

Ngokuphathelene nobude besikhathi sokuphila, uma une-thalassemia minor, ungalindela ubude besikhathi sokuphila obujwayelekile ngokuphelele. Ngisho noma unesifo esimaphakathi noma esibi kakhulu, uma ulandela ukwelashwa okunqunyiwe (ukumpontshelwa igazi nokususwa kwensimbi) ngqo, unethuba elihle lokuphila impilo ende nenempilo . Isifo senhliziyo yisona sizathu esiyinhloko esibangela ukufa. Ngakho-ke, kubalulekile ukwenza ukwelashwa kokususwa kwensimbi ngaphandle kokweqa.

Ingabe lesi sifo singavinjelwa? Futhi kudingeka ukunakekelwa okuqhubekayo

I-Thalassemia iyisifo esibangelwa izakhi zofuzo, ngakho-ke asikwazi ukusivimbela ukuthi singenzeki. Kodwa-ke, ukuhlolwa kwezakhi zofuzo kungakusiza ukuthi uthole ukuthi wena noma umlingani wakho ningabathwali bezakhi zofuzo ze-thalassemia. Uma uhlela ukuba nomntwana, kubalulekile ukwazi lolu lwazi. Ukuze uthole iseluleko esengeziwe, bheka umeluleki wezakhi zofuzo noma udokotela wakho.

Uma une-thalassemia, kuzodingeka ukuthi uhlolwe igazi njalo (i-CBC) kanye namazinga ensimbi. Udokotela wakho angase futhi akuncome ukuthi uhlolwe ukusebenza kwenhliziyo yakho kanye nesibindi okungenani kanye ngonyaka.