Ingabe ingane yakho ihlala iphaphathekile futhi ikhathele? Ingabe kungaba yiThalassemia?

Ingabe ingane yakho encane ibonakala ikhathele ngaso sonke isikhathi? Ayigijimi yini idlale njengabanye abantwana? Ingabe ithanda ukudla kakhulu? Ingabe wake wazizwa ephaphathekile? Kuvamile ukuthi noma yimuphi umama noma ubaba azizwe esaba kakhulu uma ebona izinto ezinjengalezi. Nakuba lezi zimpawu zivame ukubangelwa izimo ezivamile, ngezinye izikhathi kungase kube nesimo sezokwelapha ngemuva kwalokhu, njenge-Thalassemia. Ngakho-ke namuhla, ake sixoxe ngokuthi iyini i-Thalassemia, ukuthi iyithinta kanjani imizimba yethu, nokuthi yiziphi izindlela zokwelapha.

Iyini ngempela i-Thalassemia?

Kalula nje, i-thalassemia yisifo esizuzwa njengefa esithinta igazi lethu . Akusona isifo esithelelanayo. Lokho kusho ukuthi asisabalali sisuka komunye umuntu siye komunye njengomkhuhlane. Kuyinto esiyizuza njengefa kubazali bethu ngezakhi zofuzo zethu.

Ukuze sikuqonde kangcono lokhu, ake siqale sixoxe kancane ngamaseli abomvu egazini lethu. Cabanga ngala maseli abomvu egazi njengenkonzo yokulethwa ethwala umoya-mpilo emizimbeni yethu yonke. Isithuthi sale nkonzo yokulethwa, okungukuthi, inqola ethwala umoya-mpilo, sibizwa ngokuthi i-hemoglobin . I-hemoglobin iyiprotheni ekhethekile etholakala ngaphakathi kwamaseli abomvu egazi. Yilokhu okuthwala umoya-mpilo emaphashini ethu bese kuwusabalalisa kuwo wonke amaseli emzimbeni.

Umuntu one-thalassemia akakwazi ukukhiqiza le phrotheni eyanele ebizwa ngokuthi i-hemoglobin. Njengalapho imoto yakhiwe, uma ezinye zezingxenye ezidingekayo zingekho noma uma kusetshenziswa izingxenye ezingaphansi, imoto ngeke isebenze kahle. Lokhu kubangela ukwehla kwenani lamaseli abomvu egazi anempilo emzimbeni. Lesi simo sibizwa ngokuthi i-anemia yamaseli abomvu egazi aphansi.

Ngakho-ke uma amangqamuzana emzimbeni engatholi isilinganiso esifanele somoya-mpilo, awakwazi ukukhiqiza amandla awadingayo. Yingakho iziguli ezine-thalassemia zithola izimpawu ezahlukahlukene.

Ubani osengozini enkulu yokuthola lesi sifo?

Ukuguquka kwezakhi zofuzo okubangela lokhu kucatshangwa ukuthi kwaqala ukuvela kubantu njengendlela yokuvikela umalaleveva. Ngakho-ke, abantu abanobudlelwano bezakhi zofuzo nezifunda lapho umalaleveva uvame khona, njenge-Afrika, eningizimu yeYurophu, kanye namazwe aseNtshonalanga, eNingizimu, naseMpumalanga ye-Asia, basengozini enkulu yokuthola i-thalassemia. Njengoba iSri Lanka nayo iyizwe laseNingizimu Asia, kuneziguli ezithwala i-thalassemia phakathi kwabantu bethu.

Yini ebangela i-thalassemia? Ake sibheke kabanzi.

Leyo "nqola ye-oxygen" ebizwa ngokuthi i-hemoglobin engikhulume ngayo ekuqaleni yakhiwe ngamaketanga amane eprotheni. Amabili kulawa abizwa ngokuthi amaketanga e-alpha globin , kanti amanye amabili abizwa ngokuthi amaketanga e-beta globin .

Sithola "imiyalelo" noma "ikhodi" yokwenza la maketanga avela ku-genes esiwazuza kubazali bethu. Cabanga ngala ma-genes njengendlela yokwenza isidlo. Uma kukhona iphutha noma iphutha ku-recipe, isidlo asikwazi ukulungiswa kahle. Ngokufanayo, uma kukhona iphutha noma ukuntuleka kwala ma-genes, amaketanga e-alpha noma e-beta globin ngeke akheke kahle. Yilapho kwenzeka khona isimo esibizwa ngokuthi i-thalassemia.

• Amaketanga e-alpha globin: Lawa adinga izakhi zofuzo ezine ukuze kwenziwe. Ezimbili zivela kumama kanti ezimbili zivela kubaba.
• Amaketanga e-beta globin: Lawa adinga izakhi zofuzo ezimbili ukuze kwenziwe. Elinye livela kumama nelinye livela kubaba.

Uhlobo lwe-thalassemia olutholayo luncike ekutheni iyiphi yalezi zinhlobo ze-alpha noma ze-beta enesici sezakhi zofuzo. Ubukhulu besifo bunqunywa inani lezakhi zofuzo ezinesici.

Yiziphi izinhlobo eziyinhloko ze-thalassemia?

I-Thalassemia ihlukaniswe ngamazinga amaningana ayinhloko kuye ngokuthi lesi sifo sibucayi kangakanani. Okungukuthi, uphawu lwe-thalassemia, i-thalassemia minor, i-thalassemia intermedia, kanye ne-thalassemia major . Esimweni sokuthwala, ungase ungabi nazimpawu. Noma ungase ube ne-anemia encane kakhulu. I-Thalassemia major yisimo esibi kakhulu esidinga ukwelashwa.

Kunezinhlobo ezimbili eziyinhloko, kuye ngokuthi iphutha lofuzo lisezintanjeni ze-alpha noma ze-beta.

1. I-Alpha Thalassemia

Lesi simo senzeka uma kukhona iphutha kwelinye noma ngaphezulu kwezakhi zofuzo ezine ezenza i-alpha globin chain. Ubukhulu bezimpawu buxhomeke enanini lezakhi zofuzo ezinephutha. Ake sibheke lokhu ngendlela elula yokukuqonda.

2. I-Beta Thalassemia

Lesi simo senzeka uma kukhona iphutha kwelinye noma kuzo zombili izakhi zofuzo ezimbili ezenza i-beta globin chain (elinye livela kumama, elinye livela kubaba).

• Izakhi zofuzo ezinephutha elilodwa: Lesi simo sibizwa ngokuthi i-beta thalassemia minor noma isimo sokuthwala. Izimpawu zincane kakhulu.
• Izakhi zofuzo ezimbili ezinephutha: Izimpawu zingasukela kweziphakathi kuya kwezinzima kakhulu.
• Isimo esiphakathi sibizwa ngokuthi i-Thalassemia intermedia .
• Uhlobo olubi kakhulu lubizwa ngokuthi i-beta thalassemia major noma i-Cooley's anemia . Laba bantu badinga ukwelashwa okuqhubekayo.

Ziyini izimpawu ze-thalassemia?

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

Azikho izimpawu noma izimpawu ezithambile kakhulu

Uma uphuthelwa yi-gene eyodwa kuphela kwezine ze-alpha, cishe ngeke ube nezimpawu. Uma izakhi zofuzo ezimbili ze-alpha noma i-gene eyodwa ye-beta inephutha, ungase ungabi nazimpawu nhlobo. Noma ungase ube nezimpawu ezincane ze-anemia, njengokuzizwa ukhathele ngaso sonke isikhathi.

Izimpawu eziphakathi nendawo (i-Thalassemia Intermedia)

Laba bantu bangase babe nezinye izimpawu ngaphezu kwe-anemia encane.

• Ukwehluleka ukukhula: Ukuphakama nesisindo sengane akukhuphuki ngokulingana neminyaka yayo.
• Ukuthomba okulibazisekile.
• Ukukhubazeka kwamathambo:Izimo ezifana ne-osteoporosis.
• Ubende olukhulisiwe: Ubende luyisitho esitholakala ohlangothini lwesobunxele lwesisu sethu esisiza ekulweni nezifo.

Izimpawu ezinzima (i-Thalassemia Major)

Izimpawu ezibucayi zenzeka ezimweni ezifana nokukhubazeka kwezakhi zofuzo ezintathu (isifo se-Hemoglobin H) kanye ne-beta thalassemia major (i-Cooley's anemia). Lezi zimpawu zivame ukuqala ukuvela ingane ingakafiki eminyakeni emibili ubudala .

Ngaphezu kwezimpawu ezingenhla, ungase ubone okulandelayo:

• Ukudla akunambitheki.
• Isikhumba esikhanyayo noma esiphuzi (i-jaundice).
• Umchamo omnyama (onombala wetiye).
• Ukukhubazeka kwamathambo obuso (ngenxa yokukhula ngokweqile kwamathambo ekhanda).

Ungasithola kanjani lesi sifo?

I-thalassemia ephakathi nendawo futhi enzima ivame ukutholakala ebuntwaneni, njengoba izimpawu ziqala ukuvela eminyakeni emibili yokuqala yokuphila kwengane. Udokotela wakho angase akucele ukuhlolwa kwegazi okuhlukahlukene ukuqinisekisa ukuxilongwa.

• Ukubalwa Kwegazi Okuphelele (i-CBC): Lokhu kulinganisa inani le-hemoglobin egazini, inani lamaseli abomvu egazi, kanye nosayizi wawo. Abantu abane-thalassemia banamaseli abomvu egazi ambalwa anempilo kanye ne-hemoglobin encane. Amaseli abomvu egazi nawo angase abe mancane kunokujwayelekile.
• Inani lama-reticulocyte: Lokhu kulinganisa inani lamaseli abomvu egazi asanda kwakheka. Lokhu kungakunikeza umbono wokuthi umnkantsha wakho ukhiqiza amaseli abomvu egazi anele yini.
• Izifundo zensimbi: Lokhu kuhlolwa kusiza ekutholeni ngokunembile ukuthi i-anemia yakho ibangelwa ukuntuleka kwensimbi noma i-thalassemia.
• I-Hemoglobin electrophoresis: Lokhu ukuhlolwa okubaluleke kakhulu ekuxilongweni kwe-beta thalassemia.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kusetshenziselwa ukuxilonga i-alpha thalassemia.

Yiziphi izindlela zokwelapha i-thalassemia?

Izindlela zokwelapha ezijwayelekile zezimo ezinzima njenge-thalassemia major ukumpontshelwa igazi kanye nokwelashwa kokususwa kwensimbi.

• Ukufakelwa Igazi: Kalula nje, lokhu ukumpontshelwa igazi kwangaphandle. Igazi eliqukethe amangqamuzana egazi abomvu aphilile linikezwa emzimbeni ngomthambo. Lokhu kubuyisela amangqamuzana egazi abomvu aphilile kanye namazinga e-hemoglobin. Ezimweni ezinzima ze-thalassemia (isb., i-beta thalassemia major), ukumpontshelwa igazi kungadingeka njalo, njengamasonto amabili kuya kwamane .
• Ukwelashwa Nge-Iron Chelation:Omunye wemiphumela emibi kakhulu yokunikela ngegazi njalo ukwanda okungadingekile kwamazinga ensimbi emzimbeni. Lokhu sikubiza ngokuthi ukugcwala kwensimbi ngokweqile . Le nsimbi eyengeziwe inganqwabelana ezithweni ezibalulekile njengenhliziyo nesibindi sethu bese izilimaza. Ngakho-ke, abantu abathola igazi njalo banikezwa imithi (amaphilisi noma imijovo) esusa le nsimbi eyengeziwe emzimbeni.
• Izithasiselo ze-Folic Acid: I-Folic acid inikezwa ukusiza umzimba ukuthi wakhe amangqamuzana egazi anempilo.
• Ukufakelwa Kwe-Bone Marrow kanye ne-Stem Cell: Okwamanje lokhu ukuphela kokwelashwa okungayelapha ngokuphelele i-thalassemia. Kodwa-ke, kulokhu, isiguli sidinga umnikeli onempilo ohambisanayo ngokuphelele. Ngokuvamile, kuba umfowethu noma udadewethu. Lokhu kuyindlela yokwelapha eyingozi kakhulu futhi eyinkimbinkimbi.
• I-Luspatercept: Lona umuthi wokugoma onikezwa njalo emavikini amathathu. Usebenza ngokusiza umzimba ukuthi ukhiqize amangqamuzana egazi abomvu engeziwe.

Impilo injani ngalesi sifo? Ingabe singavinjelwa?

Uma une-thalassemia minor, ungalindela isikhathi sokuphila esijwayelekile. Kungakhathaliseki ukuthi isimo sakho simaphakathi noma sibi kakhulu, uma ulandela uhlelo lokwelashwa olubekiwe (ukumpontshelwa igazi nokwelashwa kokususwa kwensimbi) ngqo, unethuba elihle lokuphila impilo ende.

Lesi sifo sibangelwa izakhi zofuzo, ngakho-ke asikwazi ukusivimbela. Kodwa-ke, ukuhlolwa kwezakhi zofuzo kungakusiza ukuthi uthole ukuthi wena noma umlingani wakho ninayo yini i-thalassemia gene. Ukwazi lolu lwazi kubaluleke kakhulu emibhangqwaneni ehlela ukuba nomntwana. Khuluma nodokotela wakho ukuze uthole iseluleko esengeziwe ngalokhu.

Ekugcineni, i-thalassemia iyisifo esilawulekayo. Uhlobo lokwelashwa oludingayo nokuthi uludinga kangaki kuzoncika ebunzimeni besimo sakho. Kubalulekile ukuba nengxoxo evulekile nodokotela wakho ngesimo sakho kanye nohlelo lwakho lokunakekelwa kwesikhathi eside.