I-beta thalassemia

Iyini i-beta thalassemia enkulu?

Iyini i-beta thalassemia ezinganeni?

I-Beta thalassemia yisimo segazi esiwufuzo. Lokho kusho ukuthi idluliselwa ngezakhi zofuzo zomzali. Kuwuhlobo lwe-anemia. I-anemia yizinga elincishisiwe lamangqamuzana abomvu egazi noma i-hemoglobin ephansi. Ingxenye yamangqamuzana abomvu egazi i-hemoglobin. Ithwala izicubu, izicubu namaseli nge-oxygen. I-Beta thalassemia kuthinta ukukhula kwe-hemoglobin.

Izinhlobo ezahlukene ze-thalassemia zenzeka. Ubukhulu be-anemia yengane yakho buncike ohlotsheni onalo.

Yini ebangela i-beta thalassemia enganeni?

I-Beta thalassemia ibangelwa ukukhubazeka kwezakhi zofuzo ezilawula ukukhiqizwa kwe-hemoglobin. Amafomu amathathu akhona:

• I-Beta thalassemia enkulu (i-anemia ka-Cooley): Lolu uhlobo lwe-beta thalassemia oludlulele kakhulu. Phakathi neminyaka emi-2 yokuqala yokuphila, ngezinye izikhathi kuyaqashelwa. Izingane nazo zidinga ukumpontshelwa igazi njalo. Lokhu kungabangela izinkinga zokugcwala kwe-iron ezivamile ezivamile.
• I-Beta thalassemia intermedia: Lolu hlobo lwe-thalassemia lusabalele emhlabeni wonke. I-hemoglobin engavamile ingase ibangele. Noma kungase kube nezinhlobo ezingaphezu kolulodwa ze-hemoglobin engavamile ezikhona. Ivamise ukutholwa kamuva kune-beta thalassemia enkulu. Ngokuvamile, ukumpontshelwa igazi akudingeki.
• I-Thalassemia encane noma isici se-thalassemia: Laba abathwali be-beta thalassemia.

Yiziphi izingane ezisengozini ye-beta thalassemia?

I-Beta thalassemia yisimo esiwufuzo. Idluliselwa kusuka kubazali kuya ezinganeni.

• Lapho abazali ababili abathwali abane-thalassemia encane bedlulisela kusana lwabo, i-thalassemia enkulu itholwa ngofuzo. Ingane ngayinye kubazali ababili abaphethe ine-beta thalassemia enkulu engama-25%.
• Lapho abazali ababili abathwalayo bedlulisela usana lwabo, i-Thalassemia encane itholwa ngofuzo. Kukhona ingozi engamaphesenti angu-50 yokuthola i-beta thalassemia encane enganeni ngayinye yabazali ababili abaphethe.

Kubantu abalandelayo, ukukhubazeka kofuzo okubangela i-beta thalassemia kuvame kakhulu:

• Greek
• Italian
• Ephakathi Ephakathi
• Asian
• African

Yiziphi izimpawu ze-beta thalassemia enganeni?

Izimpawu ze-beta thalassemia ezinkulu zenzeka lapho usana luphakathi kwezinyanga eziyisi-6 nezingu-24. Zihlanganisa:

• Ukukhula nokungathuthuki kahle
• Isikhumba esiphezulu
• Izinkinga zokudla
• Uhudo
• Ukucasuka, ukucasuka
• Imikhuhlane
• Isisu esikhulisiwe sisuka kubende obukhulisiwe

Izimpawu ze-beta thalassemia intermedia zenzeka eminyakeni yakamuva futhi zihlanganisa:

• Isikhumba esiphaphathekile noma esiphuzi
• Ama-gallstones
• Isibindi esinwetshiwe kanye nobende
• Amathambo ashintsha
• Izilonda emilenzeni noma izilonda
• Amathambo athambile

Izingane ezine-beta thalassemia minor zine-anemia, kodwa ngokuvamile azinazo izimpawu.

Ukuxilongwa kwe-beta thalassemia enganeni

Uchwepheshe wezokunakekelwa kwempilo uzobe ebuza ngezimpawu nomlando wezempilo wosana lwakho. Uzohlola ingane yakho ngokomzimba. Ingane yakho izoba nokuhlolwa okufana nalokhu:

• Isibalo segazi esiphelele (CBC):Amangqamuzana egazi abomvu namhlophe, ama-blood clotting cells (ama-platelet) futhi ngezikhathi ezithile, amangqamuzana egazi abomvu amancane ahlolwa ngesibalo segazi eligcwele. I-Hemoglobin ne-hematocrit ifakiwe futhi amangqamuzana egazi abomvu anemininingwane eyengeziwe.
• I-peripheral smear:Ukuze kubonakale ukuthi zibonakala ziyinqaba, inani elincane legazi lihlolwa ngesibonakhulu.
• I-Hemoglobin electrophoresis. Lokhu kuhlolwa kukala izinhlobo nenani le-hemoglobin.
• Izifundo zensimbi. Lezi zifundo zihlola ukuntuleka kwe-iron anemia.
• Ukuhlolwa kwe-DNA. Lezi zivivinyo zibheka ukukhubazeka kofuzo. Ukuhlolwa kwe-DNA kungathola abathwali be-alpha thalassemia.

Ukwelashwa kwe-beta thalassemia enganeni

Ukwelashwa kuzoncika ezimpawini, ubudala, kanye nempilo jikelele yengane yakho. Kuzoncika futhi ekutheni lesi sifo sibucayi kangakanani.

Umhlinzeki wezempilo wengane yakho angakudlulisela kudokotela wegazi. Unguchwepheshe wezifo zegazi. Ukwelashwa kwe-Beta thalassemia kuncike ohlotsheni. Kungabandakanya:

• Nge-beta thalassemia enkulu:
  • Ukumpontshelwa igazi okuvamile (ingane yakho ithola igazi elinempilo kumnikeli)
  • Ingane yakho idinga ukuthi ibe isiluqedile uchungechunge lokugomela i-hepatitis B.
  • Imithi (ukusika inani lensimbi emzimbeni, ebizwa ngokuthi i-chelation therapy)
  • I-stem cell noma ukufakelwa igazi ngentambo
  • Ezinye izindlela zokwelapha zisacwaningwa, kuhlanganise nokwelapha ngezakhi zofuzo.
• Okwe-beta thalassemia intermedia:
  • Ukumpontshelwa igazi okungenzeka
  • Ukususwa kobende
• Imithamo yansuku zonke ye-folic acid, ivithamini edingekayo ukwenza i-hemoglobin

Izinkinga ze-beta thalassemia enganeni

Izinkinga zokumpontshelwa njalo zingase zenzeke lapho ingane ineminyaka engaba ngu-10 noma engu-11 ubudala. Zisuka ekubeni nensimbi eningi. Izinkinga zihlanganisa:

• Ukukhula okubambezelekile nokuthuthuka, okuhlanganisa nokukhula kocansi
• Izinkinga zenhliziyo, isibindi, nobende
• Izinkinga zesistimu ye-Endocrine (isibonelo, isifo sikashukela noma izinkinga zegilo)
• Ama-clots egazi
• Kwamathambo

Izingane ezine-beta thalassemia intermedia zingase zibe nezinkinga zokugcwala kwensimbi.

Ngingayisiza kanjani ingane yami ukuthi iphile ne-beta thalassemia?

Ukunakekelwa okuqhubekayo kwengane yakho kufanele kufake:

• Ukuhlolwa komzimba njalo
• Umsebenzi wegazi ojwayelekile
• Ukugwema izithasiselo zensimbi

Khuluma nomhlinzeki wakho mayelana nokwelulekwa ngofuzo.

Kufanele ngishayele nini umhlinzeki wezempilo wengane yami?

Izimpawu nokwelashwa kwengane ngayinye kuhlukile. Qiniseka ukuthi uyaziqonda izimpawu nokwelashwa kwengane yakho, okuhlanganisa nemiphumela engemihle engase ibe khona. Shayela umhlinzeki wengane yakho uma ubona izinguquko noma unemibuzo. Isibonelo, shayela umhlinzeki uma ingane yakho inokunoma yikuphi kwalokhu okulandelayo:

• Ukukhula okunensayo noma ukukhula
• Izinkinga zokudla
• Ukuxokozela
• Imikhuhlane

Amaphuzu abalulekile mayelana ne-beta thalassemia ezinganeni

• I-Beta thalassemia isifo segazi esizuzwe njengefa lapho ingane ine-anemia.
• Kubangelwa ukukhubazeka kofuzo okulawula ukukhiqizwa kwe-hemoglobin.
• Izinhlobo ze-beta thalassemia ezinkulu, i-intermedia, nezincane.
• Ukwelashwa kuhlanganisa ukumpontshelwa igazi njalo.
• Ukwelashwa kokugcwala kwensimbi kuyadingeka ngemva kweminyaka yokumpontshelwa.

Izinyathelo ezilandelayo

Amathiphu angakusiza ukuthi uthole okuningi ngokuvakashela umhlinzeki wezempilo wengane yakho:

• Yazi isizathu sokuvakasha kanye nalokho ofuna kwenzeke.
• Ngaphambi kokuvakasha kwakho, bhala phansi imibuzo ofuna iphendulwe.
• Ekuvakasheni, bhala phansi igama lokuxilongwa okusha, nanoma yimiphi imithi emisha, ukwelashwa, noma ukuhlolwa. Futhi bhala noma yimiphi imiyalelo emisha umhlinzeki wakho okunika yona yengane yakho.
• Yazi ukuthi kungani kunikezwa umuthi omusha noma ukwelashwa nokuthi kuzosiza kanjani ingane yakho. Yazi futhi ukuthi iyini imiphumela emibi.
• Buza ukuthi isimo sengane yakho singelashwa yini ngezinye izindlela.
• Yazi ukuthi kungani kunconywa ukuhlolwa noma inqubo nokuthi imiphumela ingasho ukuthini.
• Yazi ukuthi yini ongayilindela uma ingane yakho ingawuphuzi umuthi noma ingahlolisiswanga noma ingawuhloli.
• Uma ingane yakho inesikhathi sokulandelela, bhala phansi usuku, isikhathi, nenjongo yalokho kuvakasha.
• Yazi ukuthi ungaxhumana kanjani nomhlinzeki wengane yakho ngemva kwamahora okusebenza. Lokhu kubalulekile uma ingane yakho igula futhi unemibuzo noma udinga iseluleko.

Yiziphi Izinhlobo Ezihlukene Ze-Beta Thalassemia?

Izinhlobo ezintathu ze-beta thalassemia yilezi:

• I-Beta thalassemia minor (ebizwa nangokuthi uhlobo lwe-beta thalassemia) : Abantu abane-beta thalassemia encane bangase babe ne-anemia encane, kodwa akukho ukunakekelwa kwezokwelapha okudingekayo ngokuvamile.
• I-Beta thalassemia intermedia:Abantu abane-beta thalassemia emaphakathi bane-anemia eyingozi kakhulu, futhi ukumpontshelwa igazi nsuku zonke nokunye ukunakekelwa kwezokwelapha kungase kudingeke kwabanye. Ukumpontshelwa igazi kunikeza umzimba i-hemoglobin enhle nama-RBC.
• I-Beta thalassemia enkulu(ebizwa nangokuthi I-anemia kaCooley): Izimpawu ezibalulekile kanye ne-anemia esongela ukuphila zikhona kubantu abane-beta thalassemia enkulu. Kudingeka ukumpontshelwa igazi njalo nezinye izinkonzo zezokwelapha.

Izimpawu nezimpawu ze-beta thalassemia

Ngokuvamile azikho izimpawu kubantu abanesici se-beta thalassemia.

Izingane ezine-beta thalassemia emaphakathi noma enkulu zingase zingabi nazo izimpawu lapho zizalwa, kodwa zivame ukukhula eminyakeni emi-2 yokuqala yokuphila. Bangase babe nezimpawu ze-anemia, njenge:

• ukhathala
• ukuphelelwa umoya
• ukushaya kwenhliziyo okusheshayo
• isikhumba esiphaphathekile
• isikhumba esiphuzi namehlo (i-jaundice)
• isimo sengqondo
• ukukhula kancane

Abantu abane-beta thalassemia enkulu noma emaphakathi ngokuvamile banensimbi eyeqile emzimbeni, kungaba ngenxa yesifo ngokwaso noma ngokumpontshelwa igazi njalo. Inhliziyo, isibindi, kanye nesistimu ye-endocrine ingakhinyabezeka ngenxa yensimbi eyeqile.

Abantu abane-beta thalassemia ebalulekile bangaba nezinkinga ezinkulu zempilo yabo, okuhlanganisa:

• ukukhubazeka kwamathambo namathambo aphukile ngenxa yoshintsho kumnkantsha (lapho ama-RBC enziwa khona)
• ubende olukhulisiwe ngenxa yokuthi isitho sisebenza kanzima kunokujwayelekile. Odokotela bangase badinge ukukhipha i-spleen uma iba nkulu kakhulu.
• izifo, ikakhulukazi uma odokotela besusa i-spleen (i-spleen isiza ukulwa nezifo ezithile)

Izinkinga ze-beta thalassemia

Amaprotheni amabili e-alpha namaprotheni amabili e-beta enziwe nge-hemoglobin. Ukuguqulwa kofuzo (ukuguqulwa) kubangela i-alpha thalassemia kumaprotheni e-alpha. I-Beta thalassemia idala ukuguqulwa kofuzo kumaprotheni e-beta.

Ukuguqulwa kofuzo kudala ukweqisa kwamaprotheni e-hemoglobin ku-beta thalassemia. Ukungalingani kubangela i-anemia ngoba:

• Amangqamuzana egazi abomvu aphuka ngokushesha kunokujwayelekile.
• Ama-RBC ambalwa enziwa.
• Kwenziwa i-hemoglobin encane.

Ukungalingani kuholela ezinkingeni zezokwelapha emathanjeni, umnkantsha nezinye izitho.

Ubani Othola I-Beta Thalassemia?

Abantu bazuza kubazali babo ufuzo lwe-beta thalassemia. Ingane ithola olunye lwezakhi zofuzo ze-beta zama-protein kanye nolunye lukayise:

• Umuntu ozuza njengefa ushintsho lofuzo kuphrotheni ye-beta kumzali oyedwa une-beta thalassemia minor (isici se-beta thalassemia).
• Umuntu ozuza njengefa ushintsho lofuzo kuwo womabili amaprotheni e-beta (eyodwa kumzali ngamunye) une-beta thalassemia intermedia noma i-beta thalassemia enkulu (i-anemia kaCooley).

Ngokuvamile ngokushintsha kofuzo lwe-sickle cell, ukuguqulwa kofuzo lwe-beta thalassemia kungase kuzuzwe njengefa. I-Sickle beta thalassemia, uhlobo lwesifo sama-sikela cell, luphumela kulokhu. Umeluleki wezakhi zofuzo uzosiza imindeni ukuthi iqonde ukuthi i-beta thalassemia isebenza kanjani emindenini ngezindlela ezihlukahlukene.

Itholakala Kanjani I-Beta Thalassemia?

Odokotela bazohlola umbungu uma owesifazane ekhulelwe futhi bobabili abazali benesici se-beta thalassemia:

• I-Chorionic villus sampling (CVS): Lokhu kuhlanganisa ukuthatha ingxenye encane ye-placenta ukuze ihlolwe, eyenziwa cishe amasonto angu-11 ekukhulelwe.
• I-Amniocentesis: Lokhu kuhlanganisa ukukhipha isampula yoketshezi olumboza umbungu ukuze kuphenywe izimpawu zezinkinga, ngokuvamile ezenziwa cishe amasonto ayi-16 ekukhulelweni.

Izingane ezincane zingase zihlolwe igazi uma zine-anemia, isisu esikhukhumele (lapho ubende sikhulisiwe), noma ukukhula kabi. Okukodwa noma ngaphezulu kwalokhu kusetshenziswa ekuhlolweni kwegazi:

• i-hemoglobin electrophoresis
• ukuhlolwa kwezakhi zofuzo ze-hemoglobin engavamile

Yelashwa Kanjani I-Beta Thalassemia?

Ukwelashwa kuncike ohlotsheni lwe-beta thalassemia umuntu analo.

Izingane ezine-beta thalassemia ngokuvamile azidingi ukwelulekwa.

Izingane kanye nabantu abadala abakhulu ku-beta thalassemia badinga ukwelashwa impilo yonke, okuhlanganisa:

• ukumpontshelwa igazi njalo cishe njalo emavikini angu-2-4
• imithi yokukhipha insimbi eyengeziwe emizimbeni yabo (okuthiwa i-chelation)

Abantu abane-beta thalassemia emaphakathi bangadinga ukumpontshelwa igazi kanye ne-chelation, kodwa hhayi njengalabo abane-beta thalassemia enkulu.

I-Beta thalassemia ayelashwa ngokumpontshelwa igazi kanye ne-chelation. Ingelashwa ngokufakelwa kwe-stem cell, kodwa kuwukuhlinzwa okunzima okunezinkinga eziningi futhi ngeke kusize muntu onalesi sifo. Ukuze kusekelwe abantu abane-beta thalassemia, odokotela nososayensi bagxile ekuthuthukiseni ukwelashwa kwezakhi zofuzo nezinye izindlela zokwelapha.

Abazali Bangazisiza Kanjani Izingane Nge-Beta Thalassemia Trait?

Akukho ukwelashwa okukhethekile okudingekayo enganeni enesici se-beta thalassemia. Ukuze uqonde ukuthi i-beta thalassemia isebenza kanjani emindenini, ingane yakho izofuna ukukhuluma nomeluleki wezakhi zofuzo ngolunye usuku.

Qiniseka ukuthi utshela bonke abasebenzi bezempilo ukuthi kunesici se-beta thalassemia enganeni yakho. Ngale ndlela, ochwepheshe bazokwazi imbangela lapho i-anemia encane ivela ngesikhathi sokuhlolwa kwegazi.

Abazali Bangazisiza Kanjani Izingane Nge-Beta Thalassemia Intermedia noma Enkulu?

Izingane ezine-beta thalassemia emaphakathi noma enkulu zidinga ukwelashwa impilo yonke. Ngokunakekelwa kwezempilo okujwayelekile, izingane ezine-beta thalassemia emaphakathi nezinkulu zizophila kuze kube yiminyaka engu-50. Ukwelashwa okuvamile, okuhlanganisa ukumpontshelwa igazi kanye ne-chelation, kuyindlela ephephe kunazo zonke yokuba ingane yakho iphile impilo yayo enempilo.

Ukusungula ithimba lokunakekelwa kwezempilo lengane yakho kubalulekile. Isikhungo sizokusiza ukuthi uhlanganise ithimba uma uhlala eduze Nesikhungo Sokwelapha I-Thalassemia. Iqembu kufanele lifake:

• i-hematologist (udokotela obhekele izifo zegazi)
• odokotela ukwelapha izinkinga zokugcwala kwe-iron, okuhlanganisa:
  • i-endocrinologist (udokotela obhekele izitho ezenza amahomoni)
  • udokotela wenhliziyo (inhliziyo)
  • udokotela wesisu (udokotela ogxile emgudwini wokugaya ukudla)
  • udokotela wezifo ezithathelwanayo ukusiza ukwelapha noma yiziphi izifo
  • i-dietitian ukusiza ukuhlela ukudla nanoma yiziphi izithasiselo zamavithamini ezidingekayo
  • udokotela oyinhloko ukusiza ngokunakekelwa okujwayelekile
  • umphathi wecala (umhlengikazi noma omunye umhlinzeki oxhumanisa ukunakekelwa kwezempilo kwengane yakho)
  • usonhlalakahle ozokusiza ngolwazi lomshwalense kanye nokufunda kwengane yakho, nokondla wena, ingane yakho, nomndeni wakho
  • isazi sokusebenza kwengqondo ukusiza abanakekeli kanye nengane yakho ukuthi babhekane ne-thalassemia

Yini Okunye Okufanele Ngiyazi?

Lapho ingane yakho ine-beta thalassemia emaphakathi noma i-beta thalassemia enkulu, ukuphatha ukwelashwa kanye nemizwelo nemizwa ehambisana nalesi sifo kungaba umzabalazo emkhayeni wakho. Kungaholela kokuthi:

• Thola ukwesekwa nge:
  • ithimba lokunakekela ingane yakho, ikakhulukazi usonhlalakahle noma isazi sokusebenza kwengqondo
  • eminye imindeni enengane ene-beta thalassemia
  • abangane nomndeni
• Siza ingane yakho ibone amathuba enawo, hhayi ukulinganiselwa.
• Lawula izinga lakho lokucindezeleka ngokuzinakekela futhi wenze izinto ozithandayo.
• Bandakanya izingane zakini zengane ezine-thalassemia. Babonise ukuthi bangaba nendima ethile, njengokugcina izingane zakwabo bekanye nazo phakathi nokumpontshelwa igazi noma ukuba khona nje ukuze balalele.