Uyazi nge-Beta Thalassemia? Ake sixoxe ngayo kalula!

Wake wezwa ngesifo esibizwa ngokuthi 'i-thalassemia'? Mhlawumbe othile emndenini wakho noma umngane unalesi simo. Empeleni lesi yisifo esihlobene negazi lethu. Namuhla sizokhuluma ngolunye lwezinhlobo eziyinhloko ze-thalassemia , i-Beta Thalassemia . Nakuba leli gama lingase lizwakale liyinkimbinkimbi kancane, sizokhuluma ngalo kalula, ngendlela ongayiqonda.

Kuyini i-Beta Thalassemia?

Kalula nje, i-beta thalassemia iyisifo segazi lapho imizimba yethu ingakwazi ukukhiqiza i-hemoglobin ngendlela efanele. Manje ungase ubuze, "Kuyini i-hemoglobin?" I-hemoglobin iyiprotheni etholakala kumaseli ethu abomvu egazi equkethe insimbi eningi. Eqinisweni, iyisithako esiyinhloko kumaseli abomvu egazi.

Cabanga ngale ndlela: i-hemoglobin ifana nesithuthi esisiza amangqamuzana ethu abomvu egazi ukuthi athwale umoya-mpilo. Lawa mangqamuzana abomvu egazi athwale umoya-mpilo kwamanye amangqamuzana nezicubu zomzimba wonke. Ngakho-ke, amangqamuzana ethu asebenzisa lo moya-mpilo ukwenza amandla.

I-Beta thalassemia ingenye yezinhlobo ezimbili eziyinhloko ze-thalassemia. Kulokhu, kunezinguquko ezithile (ukuguqulwa kwezakhi zofuzo), okungukuthi, iphutha elincane, kuma-genes ku-protein yethu ye-hemoglobin. Ngenxa yaleli phutha lezakhi zofuzo, umzimba wethu awukwazi ukwenza kahle i-beta-globin protein ku-hemoglobin.

I-beta thalassemia iwuthinta kanjani umzimba wami?

Uma ukukhiqizwa kwe-beta-globin emzimbeni wethu kuncipha, amangqamuzana ethu abomvu egazi ayalimala. Khona-ke lawa maseli abomvu egazi alimele asuswa ngokushesha egazini. Manje cabanga, kwenzekani uma amangqamuzana amasha abomvu engenakukwazi ukwenziwa ukuze athathe indawo yalawo alahlekile? Yilapho-ke i-anemia , noma ukuntuleka kwegazi, kuvela khona.

Izimpawu ze-anemia zenzeka uma singenawo amangqamuzana abomvu egazi anele ukuthwala umoya-mpilo ezicutshini zomzimba wethu. Khona-ke lezo zicubu azitholi umoya-mpilo owanele. Izimpawu ze-anemia eziza ne-beta thalassemia zingahluka kusukela kokuncane kuya kokubi kakhulu , kuye ngokuthi inani lamangqamuzana abomvu egazi lakho liphansi kangakanani.

Ubani osengozini enkulu yokuthola i-beta thalassemia?

I-Beta Thalassemia yisifo sofuzo esizuzwa njengefa . Lokhu kusho ukuthi izingane zithola ifa lofuzo elihlobene nalesi sifo kubazali bazo. Iningi labantu abane-beta thalassemia bahlala emazweni anjenge-Afrika, isifunda saseMedithera, iMpumalanga Ephakathi, iNdiya kanye neNingizimu-mpumalanga ye-Asia. Kodwa-ke, ngenxa yokufuduka kwabantu emhlabeni wonke, iziguli ezine-beta thalassemia manje sezibikwa eNyakatho Yurophu naseNyakatho Melika. Lesi sifo siyabonakala nasezweni lethu, iSri Lanka.

Ivame kangakanani i-beta thalassemia?

Ubuwazi ukuthi i-thalassemia iyimbangela ehamba phambili ye-anemia ezuzwe njengefa? Izinkulungwane zeziguli ezintsha ze-beta thalassemia zitholakala minyaka yonke. Kodwa-ke, izindaba ezinhle ukuthi ngokuthuthukiswa kwezinyathelo zokuvimbela ezifana nokuhlolwa ukuze kutholakale abantu abane-thalassemia gene defect, inani lamacala liye lehla ngezinga elithile .

Yini ebangela i-beta thalassemia?

Imbangela eyinhloko ye-beta thalassemia ukukhubazeka kwezakhi zofuzo (ukuguqulwa) okunciphisa ukukhiqizwa kwe-beta-globin emzimbeni wethu. Njengoba sesishilo kakade, i-hemoglobin yakhiwe ngamaketanga amane amaprotheni: amaketanga amabili e-alpha-globin kanye namaketanga amabili e-beta-globin . Ukukhubazeka kuketanga le-alpha-globin kubangela i-alpha thalassemia, kanti ukukhubazeka kuketanga le-beta-globin kubangela i-beta thalassemia. Uma noma iyiphi yalezi zingxenye ze-globin ishoda, amaseli abomvu egazi ayalimala futhi abhujiswe.

Uthola ifa lesici sezakhi zofuzo se-beta thalassemia ngendlela ye-autosomal recessive pattern . Lokhu kwenzeka lapho bobabili abazali bemvelo bephethe ikhophi eyodwa yesakhi sofuzo esinephutha kanye nekhophi eyodwa yesakhi sofuzo esivamile. Esimweni esibi kakhulu se-beta thalassemia, uthola ikhophi eyodwa yesakhi sofuzo esinephutha kubo bobabili abazali.

Kodwa-ke, akuvamile kakhulu, i-beta thalassemia ingabangelwa ukuzuza i-gene eyodwa enephutha ye-beta-globin. Lokhu kubizwa ngokuthi i-autosomal dominant pattern .

Yiziphi izinhlobo ze-beta thalassemia?

Ubunzima besimo sakho buxhomeke enanini lezakhi zofuzo ezinephutha ozizuzayo kanye nendawo lapho kunephutha khona. Amanye amaphutha ezakhi zofuzo abangela ukuthi kungakhiqizwa i-beta-globin nhlobo (ebizwa ngokuthi i-beta-zero thalassemia ). Amanye amaphutha abangela ukuthi kukhiqizwe i-beta-globin encane kakhulu (ebizwa ngokuthi i-beta-plus thalassemia ).

Kunezinhlobo ezimbalwa eziyinhloko ze-beta thalassemia:

• I-Beta thalassemia enkulu (i-Cooley's anemia): Lolu uhlobo olubi kakhulu lwe-beta thalassemia. Kulokhu, womabili ama-gene e-beta-globin awekho noma anephutha. I-Beta thalassemia enkulu manje ibizwa ngokuthi "i-thalassemia encike ekufakweni kwegazi" ngoba abantu abanalesi simo badinga ukumpontshelwa igazi impilo yabo yonke.
• I-Beta thalassemia intermedia: Lokhu kungabangela i-anemia encane kuya kwephakathi. Kulesi simo, womabili ama-gene e-beta-globin awekho noma anephutha. Kodwa-ke, abantu abane-beta thalassemia intermedia ngokuvamile akudingeki banikele ngegazi impilo yabo yonke.
• I-Beta thalassemia minor (eyaziwa nangokuthi i-beta thalassemia trait): Lesi yisimo esivame ukubangela i-anemia encane. I-beta-globin gene eyodwa kuphela engekho noma enephutha. Abanye abantu abane-beta thalassemia minor bangase bangabi nazimpawu.

Ziyini izimpawu ze-beta thalassemia?

Izimpawu zakho zizoncika ekutheni i-beta thalassemia yakho inzima kangakanani. Isibonelo, umuntu one-beta thalassemia minor angase angabi nazimpawu noma abe ne-anemia encane kakhulu. Abantu abane-beta thalassemia intermedia futhi ikakhulukazi i-beta thalassemia major bangase babe nezimpawu eziphakathi noma ezinzima kakhulu.

Izimpawu ezincane

I-Beta thalassemia minor (isici se-beta thalassemia) ivame ukuhlotshaniswa nezimpawu ezincane ze-anemia ezifana nalezi:

• Ukukhathala njalo.
• Isiyezi noma ubuthakathaka .
• Ubuhlungu bekhanda obuhlala bukhona.
• Isikhumba esimpunga .

Izimpawu ezimaphakathi nezinzima

Izimpawu ezibucayi kakhulu zihlotshaniswa ne-beta thalassemia major. Ezinye zalezi zimpawu, kuye ngokuthi isimo sakho sibucayi kangakanani, zingase zibe khona nakubantu abane-beta thalassemia intermedia. Ngaphezu kwezimpawu ezingatheni, ungase ubhekane nalokhu:

• Ubunzima bokuphefumula ngesikhathi sokuzivocavoca.
• Ukwanda kwesilinganiso senhliziyo ( ukushaya kwenhliziyo ).
• Ukuphuzi kwesikhumba noma okumhlophe kwamehlo ( i-jaundice ).
• Umchamo omnyama noma onombala wetiye.
• Ukukhula okuhamba kancane noma intuthuko ebambezelekile.
• Ukuqunjelwa kwesisu .
• Ubuthakathaka noma ukukhubazeka kwamathambo ezingalo, imilenze, nobuso.

Izinsana ezincane ezine-beta thalassemia ephakathi nendawo noma enzima zingaba nokungahlaliseki kahle , futhi zingase zithole izifo njalo.

Itholakala kanjani i-beta thalassemia?

I-Beta thalassemia ivame ukutholakala ebuntwaneni . Uhlobo olubi kakhulu, i-beta thalassemia enkulu, lutholakala ngaphambi kweminyaka engu-2, okusho ukuthi ebuntwaneni bokuqala. Udokotela wakho uzokuthola i-beta thalassemia ngokusekelwe ezimpawu zakho kanye nemiphumela yokuhlolwa kwegazi.

Yiziphi izivivinyo zokuxilonga?

Udokotela wakho uzoxilonga i-beta thalassemia ngokuthatha isampula yegazi elula bese elihlaziya. Ukuhlolwa kungafaka:

• Ukubalwa Kwegazi Okuphelele (i-CBC): Ukuhlolwa kwe-CBC kunikeza ulwazi mayelana namaseli akho egazi, okuhlanganisa namaseli akho abomvu egazi. Kungabonisa ukuthi unenani eliphansi lamaseli abomvu egazi, uma emancane kunokujwayelekile, enesimo esingajwayelekile, noma ephaphathekile (abomvu kancane). Lezi zimpawu zingaba izimpawu ze-thalassemia.
• Inani lama-reticulocyte: Amaseli abomvu egazi angakavuthwa abizwa ngokuthi ama-reticulocyte. Inani eliphansi lama-reticulocyte lisho ukuthi umzimba wakho awukhiqizi amaseli abomvu egazi anele. Kodwa-ke, ku-thalassemia major, inani lama-reticulocyte livame ukuphakama. Lokhu kungenxa yokuthi umzimba wakho uzama ukwenza amaseli abomvu egazi amaningi ukuze ukhokhele ukubhujiswa kwamaseli abomvu egazi ane-hemoglobin engajwayelekile.
• Ukuhlolwa kwezakhi zofuzo zama-molecule: Lokhu kuhlolwa kuvumela udokotela wakho ukuthi ahlole ngokucophelela i-hemoglobin yakho futhi athole iphutha lezakhi zofuzo elihlobene ne-beta thalassemia.
• I-Hemoglobin electrophoresis: Lokhu kuhlolwa kulinganisa izinhlobo ezahlukene zamaprotheni e-hemoglobin egazini lakho. Ku-beta thalassemia, ezinye izinhlobo zamaprotheni e-hemoglobin ziyanda, kanti ezinye ziyancipha.

Uma kukhona ukusola ukuthi ingane yakho engakazalwa kungenzeka ukuthi izuze ifa lesakhi sofuzo esingenasici, udokotela wakho angenza ukuhlolwa okubizwa ngokuthi i-Chorionic Villus Sampling (CVS) noma i-Amniocentesis ngesikhathi sokukhulelwa. I-CVS ihlola ingxenye ye-placenta ukuze ibheke izimpawu zesiphazamiso sezakhi zofuzo. I-placenta iyisitho esisiza wena nomntwana wakho ukushintshanisa izakhamzimba ngesikhathi sokukhulelwa. I-Amniocentesis ihlola uketshezi oluzungeze ingane yakho ukuze ibheke izimpawu ze-beta thalassemia.

Iphathwa kanjani i-beta thalassemia?

Ngokuvamile kuzodingeka usebenze nethimba lokunakekela elihlanganisa ochwepheshe abahlukahlukene. Kubaluleke kakhulu ukusebenza nochwepheshe ophatha izifo ezihlobene negazi, isazi segazi .

Izinketho zokwelapha zingafaka:

• Ukumpontshelwa igazi: Umuntu one-beta thalassemia major angadinga ukunikela ngegazi njalo (mhlawumbe njalo emavikini amabili). Phakathi nale nqubo, uthola igazi elivela kumnikeli. Amaseli abomvu egazi avela kulokhu kunikelwa kwegazi asiza ukuthwala umoya-mpilo ezicutshini kuwo wonke umzimba.
• Ukwelashwa nge-iron chelation: I-iron iyingxenye ebalulekile yeprotheni ye-hemoglobin esiza ekuthwaleni umoya-mpilo. Kodwa-ke, i-iron eningi ingaba yingozi. Ukwelashwa nge-iron chelation kungavimbela ukugcwala kwe-iron.
• Izithasiselo ze-Folic acid: I-Folic acid ingasiza umzimba wakho ukuthi wakhe amangqamuzana abomvu egazi. Uma une-beta thalassemia minor, udokotela wakho angancoma lesi sithasiselo. Uma isimo sakho sibi kakhulu, kungadingeka ukuthi uphuze i-folic acid ngaphezu kokunikela ngegazi njalo.
• I-Luspatercept: Uma une-thalassemia major, unganikwa umjovo obizwa ngokuthi i-luspatercept njalo emavikini amathathu ukusiza umzimba wakho ukuthi wakhe amaseli egazi abomvu engeziwe. I-Luspatercept iyasiza ekunciphiseni i-anemia ezigulini ezine-beta thalassemia ezinikela ngegazi.
• Ukufakelwa kwe-bone marrow kanye ne-stem cell:Ungathola amaseli okuqala omnkantsha wamathambo kumnikeli. Lawa maseli okuqala yiwo kamuva aba amaseli abomvu egazi. I-Beta thalassemia ingelapheka ngokufaka amaseli okuqala omnkantsha wakho endaweni yamaseli okuqala omnkantsha wakho endaweni yomnikeli onempilo. Kodwa-ke, ukuthola umnikeli ofanayo kuyinselele. Futhi, lolu hlobo lokufakelwa lubhekwa njengenqubo eyingozi kakhulu.

Yiziphi izinkinga noma imiphumela emibi yokwelashwa?

Inkinga evame kakhulu yokunikela ngegazi ukugcwala kwensimbi . Uma unikela ngegazi, umzimba wakho uthola amangqamuzana egazi abomvu engeziwe kanye nensimbi. Uma unikela ngegazi ngokuphindaphindiwe, le nsimbi eningi ingakha futhi yonakalise izitho ezibalulekile njengesibindi, inhliziyo, kanye ne-pancreas. Uma ungumnikeli wegazi njalo, khuluma nodokotela wakho ngokuthi kufanele uthathe kangaki ukwelashwa nge-iron chelation ukuze ususe insimbi eningi emzimbeni wakho.

Ungayinciphisa kanjani ingozi yokuthola i-beta thalassemia?

Awukwazi ukunciphisa ingozi yakho yokuthola ifa lofuzo elihlobene ne-beta thalassemia. Kodwa-ke, ungavimbela ingane yakho ukuthi ithole ifa lofuzo. Uma wena noma umlingani wakho nisengozini yokuba ngabathwali balesi sici sofuzo futhi ninethemba lokuba nomntwana, khuluma nodokotela wakho mayelana nokuhlolwa i-beta thalassemia.

Ingabe i-beta thalassemia ingelapheka?

Ukuphela kwendlela yokwelapha okwamanje ye-beta thalassemia ukufakelwa kwe-bone marrow kanye ne-stem cell kusuka kumuntu onikelayo ofanayo. Kodwa-ke, ukuthola umuntu onikelayo ofanayo kuvame ukuba nzima. Ngisho namalungu omndeni angase angabhekwa njengabanikeli abafanelekile.

Abacwaningi okwamanje bafunda ezinye izindlela zokwelapha i-beta thalassemia, njengokufaka esikhundleni sezakhi zofuzo ezinephutha ngezinempilo ( ukwelashwa ngezakhi zofuzo ). Lo msebenzi usesesigabeni sawo sokuqala.

Iyini isikhathi sokuphila somuntu one-beta thalassemia?

I-Beta thalassemia iyisifo esingelapheka . Abantu abanezinhlobo ezincane neziphakathi ze-beta thalassemia, njenge-minor kanye ne-intermedia, bangalindela isikhathi sokuphila esijwayelekile uma belandela imiyalelo yokwelashwa kadokotela wabo. Kodwa-ke, i-beta thalassemia enkulu inganciphisa isikhathi sabo sokuphila. Imbangela evame kakhulu yokufa kulesi simo ukwehluleka kwenhliziyo okubangelwa ukugcwala kwensimbi.

Khuluma nodokotela wakho mayelana nokubikezela kwakho ngokusekelwe ebunzimeni besimo sakho.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Buza udokotela wakho ukuthi kufanele uhlolwe igazi kangaki futhi welashwe, nokuthi yiziphi izinguquko zendlela yokuphila okufanele uzenze ukuze uphathe isimo sakho.

Eminye imibuzo ongayibuza:

• Uhlobo luni lwe-beta thalassemia enginalo?
• Uhlobo luni lokwelashwa engizodinga ukuze ngiphathe isimo sami?
• Ingancishiswa kanjani ingozi yezinkinga ezivela ekwelashweni?
• Kufanele ngihlolwe igazi kangaki ukuze ngiqaphele isimo sami?
• Hlobo luni lokuhlolwa kwegazi engizoluthola?
• Yiziphi izinguquko zendlela yokuphila (isib. ukudla, ukuzivocavoca) okudingeka ngizenze ukuze ngilawule isimo sami?
• Ingabe ngingumuntu ofanelekela ukufakelwa i-stem cell?
• Angakanani amathuba okuba izingane zami nazo zibe ne-beta thalassemia?

Indlela obhekana ngayo ne-beta thalassemia incike ekutheni isimo sakho sibi kangakanani. Kungakhathaliseki ukuthi hlobo luni lwe-beta thalassemia, kubalulekile ukusebenza nochwepheshe abanolwazi ekuxilongeni nasekwelapheni i-thalassemia.

Ukuthola ukwelashwa okufanele kungavimbela i-anemia futhi kunciphise ingozi yezinkinga ezifana nokusetshenziswa ngokweqile kwensimbi.

Ukusebenza nethimba lezokunakekelwa kwempilo eliqapha isimo sakho eduze futhi linikeze uhlelo lokunakekelwa oluqondene nawe kungasiza ekuthuthukiseni ukubikezela kwakho.

Okokugcina, izinto okufanele uzikhumbule

I-Beta Thalassemia akuyona into okufanele uyesabe, kodwa yisimo esidinga ukuphathwa kahle . Uma wena noma othile omaziyo enalesi simo, kubaluleke kakhulu ukulandela iseluleko sezokwelapha esifanele, uthole ukuhlolwa nokwelashwa okudingekayo . Khumbula, awuwedwa, futhi kukhona odokotela nezisebenzi zezempilo abangakusiza. Ngakho-ke, ungesabi ukukhuluma nabo uma unemibuzo. Sithemba ukuthi lolu lwazi luzokusiza uphile impilo enempilo!

I- Beta thalassemia, i-thalassemia, i-anemia, i-hemoglobin, izinguquko zofuzo, ukunikela ngegazi, ukugcwala kwensimbi