Konke Odinga Ukukwazi Nge-Thalassemia

-Delile

• Izimpawu ze-thalassemia
• Izimbangela zethalassemia
• Izinhlobo ezahlukene ze-thalassemia
• Ukuxilongwa kwe-thalassemia
• Izinketho zokwelashwa kwe-thalassemia
• Thalassemia beta
• I-Thalassemia enkulu
• I-Thalassemia intermedia
• I-alpha yeThalassemia
• IHemoglobin H
• Ama-Hydrops fetalis
• I-Thalassemia ne-anemia
• I-Thalassemia ne-genetics
• IThalassemia encane
• Thalassemia ezinganeni
• Ukudla kwe-thalassemia
• Isibikezelo
• Isikhathi sokuphila
• I-thalassemia ikuthinta kanjani ukukhulelwa?
• Umbono

Yini i-thalassemia?

I-Thalassemia yisifo segazi esizuzwe njengefa lapho umzimba wenza uhlobo olungajwayelekile lwe-hemoglobin. IHemoglobin yi-molecule yamaprotheni kumaseli abomvu egazi athwala umoya-mpilo.

Lesi sifo siholela ekubhujisweni ngokweqile kwamaseli abomvu egazi, okuholela ekushoneni kwegazi. I-anemia yisimo lapho umzimba wakho ungenawo amaseli abomvu ajwayelekile ajwayelekile, anempilo.

I-Thalassemia izuzwe njengefa, okusho ukuthi okungenani omunye wabazali bakho kufanele abe othwala lesi sifo. Kubangelwa noma ukuguquka kwezakhi zofuzo noma ukususwa kwezicucu ezithile zofuzo eziyisihluthulelo.

I-Thalassemia encane ifomu elibi kakhulu lesifo. Kunezinhlobo ezimbili eziyinhloko ze-thalassemia ezibucayi kakhulu. Ku-alpha thalassemia, okungenani eyodwa yezakhi zofuzo ze-alpha globin inokuguquguquka noma ukungajwayelekile. Ku-beta thalassemia, izinhlobo ze-beta globin ziyathinteka.

Ngayinye yalezi zinhlobo ze-thalassemia inezinhlokwana ezihlukile. Ifomu eliqondile onalo lizothinta ukuqina kwezimpawu zakho nombono wakho.

Izimpawu ze-thalassemia

Izimpawu ze-thalassemia zingahluka. Ezinye zezinto ezivame kakhulu zifaka:

• ukukhubazeka kwamathambo, ikakhulukazi ebusweni
• umchamo omnyama
• ukukhula nokubambezeleka okubambezelekile
• ukukhathala ngokweqile nokukhathala
• isikhumba esiphuzi noma esiphaphathekile

Akuwona wonke umuntu onezimpawu ezibonakalayo ze-thalassemia. Izimpawu zalesi sifo zivame ukuvela kamuva ebuntwaneni noma ebusheni.

Izimbangela zethalassemia

I-Thalassemia yenzeka lapho kunokungajwayelekile noma ukuguquka kolunye lwezakhi zofuzo ezithintekayo ekukhiqizeni i-hemoglobin. Lokhu uzuza njengefa okungajwayelekile kubazali bakho.

Uma kungoyedwa wabazali bakho ophatha i-thalassemia, ungahle uhlakulele uhlobo lwesifo esaziwa njenge-thalassemia minor. Uma lokhu kwenzeka, mhlawumbe ngeke ube nezimpawu, kepha uzoba umphathi. Abanye abantu abane-thalassemia encane baba nezimpawu ezincane.

Uma bobabili abazali bakho bephethe i-thalassemia, unethuba elikhulu lokuzuza ifomu elibi kakhulu lalesi sifo.

kubantu abavela e-Asia, eMiddle East, e-Afrika, kanye naseMedithera emazweni anjengeGrisi neTurkey.

Izinhlobo ezahlukene ze-thalassemia

Kunezinhlobo ezintathu ezinkulu ze-thalassemia (kanye nama-subtypes amane):

• i-beta thalassemia, efaka ama-subtypes amakhulu ne-intermedia
• i-alpha thalassemia, efaka ama-subtypes hemoglobin H nama-hydrops fetalis
• i-thalassemia encane

Zonke lezi zinhlobo nama-subtypes ziyahlukahluka ngezimpawu nobukhali. Ukuqala nakho kungahluka kancane.

Ukuxilongwa kwe-thalassemia

Uma udokotela wakho ezama ukuxilonga i-thalassemia, kungenzeka bathathe isampula yegazi. Bazothumela le sampuli ebhodini ukuze ihlolwe i-anemia ne-hemoglobin engavamile. Uchwepheshe waselebhu uzobheka negazi ngaphansi kwesibonakhulu ukubona ukuthi amaseli abomvu egazi abunjwe ngendlela exakile.

Amaseli abomvu angajwayelekile abunjwe uphawu lwe-thalassemia. Isazi selab futhi singenza isivivinyo esaziwa njenge-hemoglobin electrophoresis. Lokhu kuhlolwa kwehlukanisa ama-molecule ahlukene kumaseli abomvu egazi, okuwavumela ukuthi babone uhlobo olungavamile.

Ngokuya ngohlobo nobukhulu be-thalassemia, ukuhlolwa ngokomzimba kungasiza nodokotela wakho ukuthi axilonge. Isibonelo, ubende obukhuliswe kakhulu bungasikisela kudokotela wakho ukuthi unesifo se-hemoglobin H.

Izinketho zokwelashwa kwe-thalassemia

Ukwelashwa kwe-thalassemia kuya ngohlobo nobukhulu besifo esithintekayo. Udokotela wakho uzokunikeza inkambo yokwelashwa ezosebenza kangcono ecaleni lakho elithile.

Ezinye izindlela zokwelapha zifaka:

• ukumpontshelwa igazi
• ukufakelwa umnkantsha wethambo
• imithi nezithako
• ukuhlinzwa okungenzeka ukususa ubende noma i-gallbladder

Udokotela wakho angakuyala ukuthi ungathathi amavithamini noma izithasiselo eziqukethe i-iron. Lokhu kuyiqiniso ikakhulukazi uma udinga ukumpontshelwa igazi ngoba abantu abalitholayo baqoqa insimbi eyengeziwe umzimba ongeke ukwazi ukuyikhipha kalula. I-iron ingakha izicubu, ezingaba yingozi.

Uma uthola ukumpontshelwa igazi, ungahle udinge nokwelashwa kwe-chelation. Lokhu ngokuvamile kubandakanya ukufaka umjovo wekhemikhali elihlangana nensimbi nezinye izinsimbi ezisindayo. Lokhu kusiza ukususa insimbi eyengeziwe emzimbeni wakho.

Thalassemia beta

I-beta thalassemia yenzeka lapho umzimba wakho ungakwazi ukukhiqiza i-beta globin. Izakhi zofuzo ezimbili, eyodwa evela kumzali ngamunye, zitholwa njengefa ukwenza i-beta globin. Lolu hlobo lwe-thalassemia luza ngama-subtypes amabili abucayi: i-thalassemia major (Cooley's anemia) ne-thalassemia intermedia.

I-Thalassemia enkulu

I-Thalassemia enkulu ifomu elibi kakhulu le-beta thalassemia. Ikhula lapho izakhi zofuzo ze-beta globin zilahlekile.

Izimpawu ze-thalassemia ezinkulu ngokuvamile zivele ngaphambi kosuku lokuzalwa lwesibili kwengane. I-anemia enamandla ehlobene nalesi simo ingasongela impilo. Ezinye izimpawu nezimpawu zifaka:

• ukuxokozela
• ukuphaphatheka
• ukutheleleka okuvamile
• ukungathandi ukudla
• ukwehluleka ukuchuma
• i-jaundice, okuwumbala ophuzi kwesikhumba noma abamhlophe bamehlo
• izitho ezikhulisiwe

Leli fomu le-thalassemia ngokuvamile libi kakhulu kangangokuba lidinga ukumpontshelwa igazi njalo.

I-Thalassemia intermedia

I-Thalassemia intermedia ifomu elibi kakhulu. Ikhula ngenxa yezinguquko kuzo zombili izinhlobo zofuzo ze-beta. Abantu abane-thalassemia intermedia abadingi ukumpontshelwa igazi.

I-alpha yeThalassemia

I-Alpha thalassemia yenzeka lapho umzimba ungakwazi ukwenza i-alpha globin. Ukuze wenze i-alpha globin, udinga ukuthi ube nezakhi zofuzo ezine, ezimbili ezivela kumzali ngamunye.

Lolu hlobo lwe-thalassemia lunezinhlobo ezimbili ezibucayi: isifo se-hemoglobin H kanye ne-hydrops fetalis.

IHemoglobin H

IHemoglobin H iba njengalapho umuntu elahlekile izakhi zofuzo ezintathu ze-alpha globin noma ehlangabezana nezinguquko kulezi zofuzo. Lesi sifo singaholela ezindabeni zamathambo. Izihlathi, isiphongo, nomhlathi kungahle kugcwale. Ngokwengeziwe, isifo se-hemoglobin H singadala:

• i-jaundice
• ubende obukhuliswe ngokweqile
• ukungondleki

Ama-Hydrops fetalis

I-Hydrops fetalis iyindlela eqine ngokweqile ye-thalassemia eyenzeka ngaphambi kokuzalwa. Iningi lezingane ezinalesi sifo zizalwa zingasekho emhlabeni noma zife ngemuva nje kokuzalwa. Lesi simo siqala lapho wonke ama-alpha globin genes eguqulwa noma engekho.

I-Thalassemia ne-anemia

I-Thalassemia ingaholela ngokushesha ekushoneni kwegazi. Lesi simo sibonakala ngokungabikho komoya-mpilo ohanjiswa ezicutshini nasezithweni. Njengoba amangqamuzana abomvu egazi enesibopho sokuletha umoya-mpilo, inani elincishisiwe lala maseli lisho ukuthi awunayo i-oxygen eyanele emzimbeni futhi.

I-anemia yakho ingaba mnene ize ibe nzima. Izimpawu ze-anemia zifaka:

• isiyezi
• ukukhathala
• ukucasuka
• ukuphelelwa umoya
• ubuthakathaka

Ukushoda kwegazi nakho kungadala ukuthi uphume. Amacala abucayi angaholela ekulimaleni komzimba okugcwele, okungaba yingozi.

I-Thalassemia ne-genetics

I-Thalassemia inofuzo ngokwemvelo. Ukuthuthukisa i-thalassemia ephelele, Kokubili yabazali bakho kumele kube abathwali balesi sifo. Ngenxa yalokho, uzoba nezakhi zofuzo ezimbili eziguquliwe.

Kungenzeka futhi ukuthi ube ngumthwali we-thalassemia, lapho une-gene eyodwa kuphela eshintshiwe hhayi emibili evela kubo bobabili abazali. Noma yimuphi wabazali bakho noma bobabili kufanele babe nalesi simo noma abe othwala kwalo. Lokhu kusho ukuthi uzuza ifa elilodwa eliguqukile komunye wabazali bakho.

Kubalulekile ukuhlolwa uma omunye wabazali bakho noma isihlobo sinohlobo oluthile lwesifo.

IThalassemia encane

Ezimweni ezincane ze-alpha, izakhi zofuzo ezimbili azikho. Ku-beta minor, isakhi sofuzo esisodwa asikho. Abantu abane-thalassemia ezincane ngokuvamile abanazo izimpawu. Uma bekwenza, kungenzeka kube i-anemia encane. Isimo sihlukaniswa njenge-alpha noma i-beta thalassemia encane.

Noma i-thalassemia encane ingabangeli zimpawu ezibonakalayo, usengaba ngumphathi wesifo. Lokhu kusho ukuthi, uma unezingane, zingathuthukisa uhlobo oluthile lokuguqulwa kwezakhi zofuzo.

Thalassemia ezinganeni

Kuzo zonke izingane ezizalwa zine-thalassemia unyaka ngamunye, kulinganiselwa ukuthi bangu-100 000 abazalwa benamafomu abucayi emhlabeni jikelele.

Izingane zingaqala ukukhombisa izimpawu ze-thalassemia phakathi neminyaka emibili yokuqala yokuphila. Ezinye zezimpawu eziphawuleka kakhulu zifaka:

• ukukhathala
• i-jaundice
• isikhumba esiphaphathekile
• ukungathandi ukudla
• ukukhula kancane

Kubalulekile ukuxilonga i-thalassemia ngokushesha ezinganeni. Uma wena noma omunye umzali wengane yakho nizithwali, kufanele nihlolwe kusenesikhathi.

Uma ushiywe ungalashwa, lesi simo singaholela ezinkingeni esibindini, enhliziyweni nasesipilini. Ukutheleleka nokuhluleka kwenhliziyo yizinkinga ezivame kakhulu ezisongela impilo ze-thalassemia ezinganeni.

Njengabantu abadala, izingane ezine-thalassemia enamandla zidinga ukumpontshelwa igazi kaningi ukuze kususwe i-iron eyeqile emzimbeni.

Ukudla kwe-thalassemia

Ukudla okunamafutha aphansi, okususelwa ezitshalweni kuyisinqumo esingcono kakhulu kubantu abaningi, kubandakanya nalabo abane-thalassemia. Kodwa-ke, kungadingeka ukuthi ubeke umkhawulo ekudleni okunothe ngensimbi uma usuvele unamazinga aphezulu ensimbi egazini lakho. Izinhlanzi nenyama zicebile ngensimbi, ngakho-ke kungadingeka ukuthi uzikhawulele ekudleni kwakho.

Ungase futhi ucabangele ukugwema okusanhlamvu okuqinisiwe, izinkwa, namajusi. Ziqukethe amazinga aphezulu wensimbi, nawo.

I-Thalassemia ingadala ukusilela kwe-folic acid (folate). Kutholakala ngokwemvelo ekudleni okufana nemifino enamaqabunga amnyama nemidumba, le vithamini B ibalulekile ekuvikeleni imiphumela yamazinga aphezulu ensimbi nokuvikela amaseli abomvu egazi. Uma ungatholi i-folic acid eyanele ekudleni kwakho, udokotela wakho angancoma isithasiselo se-1 mg esithathwa nsuku zonke.

Akukho kudla okukodwa okungalapha i-thalassemia, kodwa ukuqinisekisa ukuthi udla ukudla okulungile kungasiza. Qinisekisa ukuthi uxoxa nodokotela wakho nganoma yiziphi izinguquko zokudla ngaphambi kwesikhathi.

Isibikezelo

Njengoba i-thalassemia iyisifo sofuzo, ayikho indlela yokuyivimba. Kodwa-ke, kunezindlela ongaphatha ngazo lesi sifo ukusiza ukuvimbela izinkinga.

Ngaphezu kokunakekelwa kwezempilo okuqhubekayo, ukuthi bonke abantu abanokuphazamiseka bazivikele ezifweni ngokuhambisana nale mithi yokugoma elandelayo:

• uhlobo lwe-haemophilus influenza b
• i-hepatitis
• meningococcal
• pneumococcal

Ngaphezu kokudla okunempilo, ukuzivocavoca njalo kungasiza ukuphatha izimpawu zakho futhi kuholele ekubikezelweni okuhle kakhulu. Ukuvivinya umzimba ngokulingene kuvame ukunconywa, ngoba ukuvivinya umzimba okunzima kungenza izimpawu zakho zibe zimbi kakhulu.

Ukuhamba nokuhamba ngamabhayisikili kuyizibonelo zokuzivocavoca ngamandla amaphakathi. Ukubhukuda ne-yoga ngezinye izindlela, futhi kuhle kumajoyinti akho. Okusemqoka ukuthola okuthile okujabulelayo futhi uqhubeke nokunyakaza.

Isikhathi sokuphila

I-Thalassemia ukugula okungathi sína okungaholela ezinkingeni ezisongela impilo uma ishiywe ingalashwa noma ingenziwa. Yize kunzima ukukhomba isikhathi esiqondile sokuphila, umthetho ojwayelekile ukuthi uma isimo sisibi kakhulu, i-thalassemia esheshayo ingaba yingozi.

Ngokokunye ukulinganisela, abantu abane-beta thalassemia - ifomu elibi kakhulu - ngokuvamile bafa beneminyaka engama-30. Isikhathi sokuphila esifushane sihlobene nokugcwala kwensimbi, okungagcina kuthinte izitho zakho.

Abaphenyi bayaqhubeka nokuhlola ukuhlolwa kofuzo nokuthi kungenzeka yini ukuthi kwelashwe izakhi zofuzo. I-thalassemia yangaphambilini iyatholakala, ngokushesha ungathola ukwelashwa. Ngokuzayo, ukwelashwa kofuzo kungenzeka kuvuselele i-hemoglobin futhi kukhubaze ukuguqulwa kohlobo olungajwayelekile emzimbeni.

I-thalassemia ikuthinta kanjani ukukhulelwa?

I-Thalassemia nayo iveza ukukhathazeka okuhlukile okuhlobene nokukhulelwa. Lesi sifo sithinta ukukhula kwezitho zokuzala. Ngenxa yalokhu, abesifazane abane-thalassemia bangahlangabezana nobunzima bokuzala.

Ukuqinisekisa impilo yakho nobabili nengane yakho, kubalulekile ukuhlela kusenesikhathi ngangokunokwenzeka. Uma ufuna ukuba nomntwana, xoxa ngalokhu nodokotela wakho ukuze uqiniseke ukuthi usempilweni engcono kakhulu.

Izinga lakho lensimbi lizodinga ukubhekwa ngokucophelela. Izinkinga ezazikhona ngaphambilini ezinezitho ezinkulu nazo ziyabhekwa.

Ukuhlolwa ngaphambi kokubeletha kwe-thalassemia kungenziwa emavikini ayi-11 nangu-16. Lokhu kwenziwa ngokuthatha amasampuli oketshezi kusuka ku-placenta noma kumbungu, ngokulandelana.

Ukukhulelwa kunezinto ezilandelayo eziyingozi kwabesifazane abane-thalassemia:

• ingozi ephezulu yokutheleleka
• isifo sikashukela sokukhulelwa
• izinkinga zenhliziyo
• i-hypothyroidism, noma i-thyroid ephansi
• inani elandayo lokumpontshelwa igazi
• ukuminyana kwamathambo okuphansi

Umbono

Uma une-thalassemia, umbono wakho uncike ohlotsheni lwesifo. Abantu abanezinhlobo ezimnene noma ezincane ze-thalassemia bangahlala impilo ejwayelekile.

Ezimweni ezinzima, ukwehluleka kwenhliziyo kungenzeka. Ezinye izinkinga zifaka phakathi isifo sesibindi, ukukhula kwamathambo okungavamile, nezinkinga ze-endocrine.

Udokotela wakho angakunika imininingwane eminingi ngombono wakho. Bazophinde bachaze ukuthi ukwelashwa kwakho kungasiza kanjani ekuthuthukiseni ikhwalithi yempilo yakho noma kwandise isikhathi sempilo yakho.