Ngaba uyayazi i-Beta Thalassemia? Masithethe ngayo ngokulula!

Ngaba wakha weva ngesifo esibizwa ngokuba yi-'thalassemia'? Mhlawumbi umntu kusapho lwakho okanye umhlobo wakho unale meko. Esi sisifo esinxulumene negazi lethu. Namhlanje siza kuthetha ngenye yeentlobo eziphambili ze-thalassemia , i-Beta Thalassemia . Nangona eli gama lisenokuvakala liyinkimbinkimbi, siza kuthetha ngalo ngokulula, ngendlela onokuyiqonda.

Yintoni iBeta Thalassemia?

Ngamafutshane, i-beta thalassemia sisifo segazi apho imizimba yethu ingakwaziyo ukuvelisa i-hemoglobin ngokufanelekileyo. Ngoku usenokuba ubuza, "Yintoni i-hemoglobin?" I-Hemoglobin yiproteni efumaneka kwiiseli zethu ezibomvu zegazi equlethe i-iron eninzi. Enyanisweni, sisithako esiphambili kwiiseli ezibomvu zegazi.

Cinga ngale ndlela: i-hemoglobin ifana nesithuthi esinceda iiseli zethu ezibomvu zegazi zithwale ioksijini. Ezi seli zibomvu zegazi zithwale ioksijini ziye kwezinye iiseli kunye nezicubu zomzimba wonke. Ngoko ke, iiseli zethu zisebenzisa le oksijini ukwenza amandla.

I-Beta thalassemia yenye yeentlobo ezimbini eziphambili ze-thalassemia. Kule meko, kukho utshintsho oluthile (ukuguqulwa kwezakhi zofuzo), oko kukuthi, impazamo encinci, kwiizakhi zofuzo kwiproteni yethu ye-hemoglobin. Ngenxa yale mpazamo yezakhi zofuzo, umzimba wethu awukwazi ukwenza ngokufanelekileyo iproteni ye-beta-globin kwi-hemoglobin.

I-beta thalassemia iyichaphazela njani umzimba wam?

Xa imveliso ye-beta-globin yomzimba wethu incipha, iiseli zethu ezibomvu zegazi ziyabola. Emva koko ezi seli zibomvu zegazi ezonakeleyo zisuswa ngokukhawuleza egazini. Khawucinge nje, kwenzeka ntoni ukuba iiseli ezintsha ezibomvu zegazi azinakwenziwa ukuba zithathe indawo yezo zilahlekileyo? Kulapho ke kuvela khona i-anemia , okanye ukungabikho kwegazi.

Iimpawu ze-anemia zenzeka xa singenazo iiseli ezibomvu zegazi ezaneleyo zokuthwala ioksijini kwiithishu zomzimba wethu. Emva koko ezo thishu azifumani ioksijini eyaneleyo. Iimpawu ze-anemia eziza ne-beta thalassemia zinokuqala kwezincinci ukuya kwezinzima , kuxhomekeke ekubeni inani leeseli ezibomvu zegazi lakho liphantsi kangakanani.

Ngubani osengozini enkulu yokufumana i-beta thalassemia?

I-Beta thalassemia sisifo semfuza esifunyanwa njengelifa . Oku kuthetha ukuba abantwana bafumana isiphene semfuza esinxulumene nesi sifo kubazali babo. Uninzi lwabantu abane-beta thalassemia bahlala kumazwe afana ne-Afrika, ummandla weMeditera, uMbindi Mpuma, iIndiya kunye noMzantsi-mpuma we-Asia. Nangona kunjalo, ngenxa yokufuduka kwabantu kwihlabathi liphela, izigulane ezine-beta thalassemia ngoku zibikwa kuMntla Yurophu nakuMntla Melika. Esi sifo sikwabonwa kwilizwe lethu, iSri Lanka.

Ixhaphake kangakanani i-beta thalassemia?

Ubusazi na ukuba i-thalassemia yeyona nto iphambili ebangela i-anemia ezuzwe njengelifa? Amawakawaka ezigulane ezintsha ze-beta thalassemia afunyaniswa minyaka le. Nangona kunjalo, iindaba ezimnandi zezokuba ngokuphuculwa kwamanyathelo okuthintela anjengokuhlolwa kwabantu abane-thalassemia gene defect, inani lamatyala liye lehla ngandlela thile .

Yintoni ebangela i-beta thalassemia?

Eyona nto ibangela i-beta thalassemia sisiphene semfuza (uguquko) esithintela ukuveliswa kwe-beta-globin emizimbeni yethu. Njengoko sele sitshilo, i-hemoglobin yenziwe ngee-protein chain ezine: ii-alpha-globin chain ezimbini kunye nee-beta-globin chain ezimbini. Iziphene kwi-alpha-globin chain zibangela i-alpha thalassemia, kwaye iziphene kwi-beta-globin chain zibangela i-beta thalassemia. Ukuba nayiphi na kwezi globin chain ayinazo izakhamzimba, iiseli ezibomvu zegazi ziyamoshakala kwaye zitshatyalaliswe.

Ufumana isiphene sejini kwi-beta thalassemia kwipatheni ye-autosomal recessive . Oku kwenzeka xa abazali bobabini bephethe ikopi enye yejini enesiphene kunye nekopi enye yejini eqhelekileyo. Kwindlela enzima kakhulu ye-beta thalassemia, ufumana ikopi yejini enesiphene kubazali bobabini.

Nangona kunjalo, kunqabile kakhulu, i-beta thalassemia inokubangelwa kukufumana i-gene enye ye-beta-globin enesiphako. Oku kubizwa ngokuba yi-autosomal dominant pattern .

Ziziphi iintlobo ze-beta thalassemia?

Ubunzima bemeko yakho buxhomekeke kwinani leejini ezineziphene ozizuze njengelifa kunye nendawo enesiphene kuyo. Ezinye iziphene zejini azibangeli ukuba kuveliswe i-beta-globin kwaphela (ebizwa ngokuba yi -beta-zero thalassemia ). Ezinye iziphene zibangela ukuba kuveliswe i-beta-globin encinci kakhulu (ebizwa ngokuba yi -beta-plus thalassemia ).

Kukho iintlobo ezimbalwa eziphambili ze-beta thalassemia:

• I-Beta thalassemia enkulu (i-Cooley's anemia): Olu lolona hlobo lubi kakhulu lwe-beta thalassemia. Kule meko, zombini ii-gene ze-beta-globin azikho okanye zineziphene. I-Beta thalassemia enkulu ngoku ibizwa ngokuba yi- "transfusion-dependent thalassemia" kuba abantu abanale meko bafuna utofelo-gazi ubomi babo bonke.
• I-Beta thalassemia intermedia: Oku kunokubangela i-anemia encinci ukuya kwephakathi. Kule meko, zombini ii-gene ze-beta-globin azikho okanye zineziphene. Nangona kunjalo, abantu abane-beta thalassemia intermedia abadli ngokufuna ukunikela ngegazi ubomi babo bonke.
• I-Beta thalassemia minor (ekwaziwa ngokuba yi-beta thalassemia trait): Le yimeko edla ngokubangela i-anemia encinci. I-beta-globin gene enye kuphela engekhoyo okanye enesiphako. Abanye abantu abane-beta thalassemia minor basenokungabi nazimpawu.

Zithini iimpawu ze-beta thalassemia?

Iimpawu zakho ziya kuxhomekeka ekubeni i-beta thalassemia yakho inzima kangakanani. Umzekelo, umntu one-beta thalassemia minor usenokuba akanazimpawu okanye usenokuba ne-anemia encinci kakhulu. Abantu abane-beta thalassemia intermedia kwaye ngakumbi i-beta thalassemia major banokuba neempawu eziphakathi okanye eziqatha ngakumbi.

Iimpawu ezibuthathaka

I-Beta thalassemia minor (uphawu lwe-beta thalassemia) idla ngokunxulunyaniswa neempawu ze-anemia ezincinci ezifana nezi:

• Ukudinwa rhoqo.
• Ukuba nesiyezi okanye ubuthathaka .
• Intloko ebuhlungu rhoqo.
• Ulusu oluphaphathekileyo .

Iimpawu eziphakathi neziqatha

Ezona mpawu zinzima zinxulunyaniswa ne-beta thalassemia major. Ezinye zezi mpawu, ngokuxhomekeke kubunzima bemeko yakho, zinokubakho nakubantu abane-beta thalassemia intermedia. Ukongeza kwiimpawu ezingembi kangako, unokufumana:

• Ubunzima bokuphefumla ngexesha lokuzilolonga.
• Ukunyuka kwesantya sentliziyo ( ukubetha kwentliziyo ).
• Ukutyheli kwesikhumba okanye amhlophe emehlweni ( i-jaundice ).
• Umchamo omnyama okanye onombala weti.
• Ukukhula okucothayo okanye ukulibaziseka kophuhliso.
• Ukudumba kwesisu .
• Ubuthathaka okanye ukukhubazeka kwamathambo eengalo, imilenze, nobuso.

Iintsana ezincinci ezine-beta thalassemia ephakathi okanye enzima zinokuba nokuphazamiseka kakhulu , kwaye zinokufumana usulelo rhoqo.

Ifunyaniswa njani i-beta thalassemia?

I-Beta thalassemia idla ngokufunyaniswa ebuntwaneni . Olona hlobo lubi kakhulu, i-beta thalassemia enkulu, ifunyaniswa ingekafiki iminyaka emi-2 ubudala, oko kuthetha ukuba kwasebuntwaneni. Ugqirha wakho uza kuxilonga i-beta thalassemia ngokusekelwe kwiimpawu zakho kunye neziphumo zovavanyo lwegazi.

Zithini iimvavanyo zokuxilonga?

Ugqirha wakho uza kufumanisa i-beta thalassemia ngokuthatha isampuli yegazi elula aze ayihlalutye. Uvavanyo lunokuquka:

• Ukubalwa kwegazi okupheleleyo (CBC): Uvavanyo lwe-CBC lunika ulwazi malunga neeseli zakho zegazi, kuquka neeseli zakho ezibomvu zegazi. Lungabonisa ukuba unenani eliphantsi leeseli ezibomvu zegazi, ukuba zincinci kunesiqhelo, zinemilo engaqhelekanga, okanye zimhlophe (zibomvu kancinci). Ezi mpawu zinokuba ziimpawu ze-thalassemia.
• Inani lee-reticulocyte: Iiseli ezibomvu zegazi ezingavuthwanga zibizwa ngokuba zii-reticulocytes. Inani eliphantsi lee-reticulocyte lithetha ukuba umzimba wakho awuvelisi iiseli ezibomvu zegazi ezaneleyo. Nangona kunjalo, kwi-thalassemia major, inani lee-reticulocyte lidla ngokuba phezulu. Oku kungenxa yokuba umzimba wakho uzama ukwenza iiseli ezibomvu zegazi ezininzi ukuze kulungiswe ukutshatyalaliswa kweeseli ezibomvu zegazi ezine-hemoglobin engaqhelekanga.
• Uvavanyo lwe-molecular genetic: Olu vavanyo luvumela ugqirha wakho ukuba ahlolisise i-hemoglobin yakho aze achonge isiphene se-genetic esinxulumene ne-beta thalassemia.
• I-Hemoglobin electrophoresis: Olu vavanyo lulinganisa iintlobo ezahlukeneyo zeeproteni ze-hemoglobin egazini lakho. Kwi-beta thalassemia, ezinye iintlobo zeeproteni ze-hemoglobin ziyanda, ngelixa ezinye ziyancipha.

Ukuba kukho ukurhaneleka kokuba umntwana wakho ongekazalwa usenokuba ufumene ilifa le-gene enesiphene, ugqirha wakho angenza uvavanyo olubizwa ngokuba yiChorionic Villus Sampling (CVS) okanye i-Amniocentesis ngexesha lokukhulelwa. I-CVS ivavanya inxalenye ye-placenta ukuze ikhangele iimpawu zesiphene se-genetic. I-placenta sisitho esikunceda wena nomntwana wakho nitshintshiselane ngezondlo ngexesha lokukhulelwa. I-Amniocentesis ivavanya ulwelo olujikeleze umntwana wakho ukuze ikhangele iimpawu ze-beta thalassemia.

Inyangwa njani i-beta thalassemia?

Kuya kufuneka usebenze neqela lokhathalelo eliquka iingcali ezahlukeneyo. Kubaluleke kakhulu ukusebenza nengcali enyanga izifo ezinxulumene negazi, ingcali ye-hematologist .

Iindlela zonyango zingabandakanya:

• Utofelo-gazi: Umntu one-beta thalassemia major unokufuna ukunikela ngegazi rhoqo (mhlawumbi rhoqo emva kweeveki ezimbini). Ngeli xesha le nkqubo, ufumana igazi elivela kumnikeli. Iiseli ezibomvu zegazi ezivela kulo mnikelo wegazi zinceda ekuthwaleni ioksijini ukuya kwizicwili zomzimba wonke.
• Unyango lwe-iron chelation: I-iron yinxalenye ebalulekileyo yeproteni ye-hemoglobin enceda ekuthwaleni ioksijini. Nangona kunjalo, i-iron eninzi inokuba yingozi. Unyango lwe-iron chelation lunokuthintela ukugcwala kwe-iron.
• Izongezo ze-folic acid: I-folic acid inokunceda umzimba wakho wenze iiseli ezibomvu zegazi. Ukuba une-beta thalassemia minor, ugqirha wakho unokucebisa esi songezo. Ukuba imeko yakho imbi kakhulu, kunokufuneka uthathe i-folic acid ukongeza ekunikeleni ngegazi rhoqo.
• I-Luspatercept: Ukuba une-thalassemia major, unokunikwa inaliti ebizwa ngokuba yi-luspatercept rhoqo kwiiveki ezintathu ukunceda umzimba wakho wenze iiseli ezibomvu zegazi ezingaphezulu. I-Luspatercept inceda ekunciphiseni i-anemia kwizigulane ezine-beta thalassemia ezinikela ngegazi.
• Ukufakelwa kwe-bone marrow kunye ne-stem cell:Ungafumana ii-stem cells ze-bone marrow kumntu onikela ngegazi. Ezi stem cells zezona ziba zii-red blood cells kamva. I-Beta thalassemia inokunyangeka ngokutshintsha ii-stem cells ze-bone marrow ngee-stem cells ezivela kumntu onikela ngegazi ophilileyo. Nangona kunjalo, ukufumana umntu onikela ngegazi ofanelekileyo kuyingxaki. Kwakhona, olu hlobo lokufakelwa luthathwa njengenkqubo enobungozi obukhulu.

Zithini iingxaki okanye iziphumo ebezingalindelekanga zonyango?

Eyona ngxaki ixhaphakileyo yokunikela ngegazi kukugcwala kwesinyithi . Xa unikela ngegazi, umzimba wakho ufumana iiseli ezibomvu zegazi ezongezelelweyo kunye nesinyithi. Xa unikela ngegazi ngokuphindaphindiweyo, le sinyithi ingaphezulu inokwakheka kwaye yonakalise amalungu abalulekileyo anjengesibindi, intliziyo kunye nepancreas. Ukuba ungumnikeli wegazi rhoqo, thetha nogqirha wakho malunga nokuba kufuneka uthathe kangaphi unyango lwesinyithi esinyibilikayo ukuze ususe isinyithi esingaphezulu emzimbeni wakho.

Ungayinciphisa njani ingozi yokuba ne-beta thalassemia?

Awunakunciphisa umngcipheko wakho wokufumana isiphene sejini esinxulunyaniswa ne-beta thalassemia. Nangona kunjalo, unokuthintela umntwana wakho ekubeni asifumane njengelifa. Ukuba wena okanye iqabane lakho nisengozini yokuba ngabathwali besi siphene sejini kwaye ninethemba lokuba nomntwana, thetha nogqirha wakho malunga nokuhlolwa kwe-beta thalassemia.

Ngaba i-beta thalassemia inokunyangeka?

Unyango olulodwa kuphela lwangoku lwe-beta thalassemia kukufakelwa kwe-bone marrow kunye ne-stem cell ukusuka kumntu onikelayo. Nangona kunjalo, ukufumana umntu onikelayo ohambelanayo kudla ngokuba nzima. Kwanamalungu osapho asenokungathathwa njengabanikeli abafanelekileyo.

Abaphandi okwangoku bafunda ezinye iindlela zonyango ze-beta thalassemia, ezinje ngokutshintsha ii-genes ezineengxaki ngezo ziphilileyo ( unyango lwe-gene ). Lo msebenzi usekwinqanaba lokuqala.

Ingakanani ixesha lokuphila komntu one-beta thalassemia?

I-Beta thalassemia sisifo esinokunyangwa . Abantu abaneentlobo ezincinci neziphakathi ze-beta thalassemia, ezifana ne-minor kunye ne-intermedia, banokulindela ubomi obuqhelekileyo ukuba balandela imiyalelo yonyango kagqirha wabo. Nangona kunjalo, i-beta thalassemia enkulu inokunciphisa ubomi babo. Eyona nto ixhaphakileyo yokufa kule meko kukusilela kwentliziyo okubangelwa kukugqithisa kwesinyithi.

Thetha nogqirha wakho malunga noqikelelo lwakho ngokusekelwe kubunzulu bemeko yakho.

Ndingayibuza yiphi imibuzo ugqirha wam?

Buza ugqirha wakho ukuba kufuneka uvavanywe igazi kangaphi kwaye ufumane unyango, kwaye zeziphi iinguqu kwindlela ophila ngayo ekufuneka uzenze ukuze ulawule imeko yakho.

Eminye imibuzo onokuyibuza:

• Luhlobo luni lwe-beta thalassemia endinalo?
• Luhlobo luni lonyango endiya kuludinga ukuze ndilawule imeko yam?
• Ingancitshiswa njani ingozi yeengxaki ezibangelwa lunyango?
• Kufuneka ndivavanywe kangaphi igazi ukuze ndijonge imeko yam?
• Luhlobo luni lovavanyo lwegazi endiza kulufumana?
• Zeziphi iinguqu kwindlela yokuphila (umz., ukutya, umthambo) ekufuneka ndizenze ukuze ndilawule imeko yam?
• Ngaba ndingumntu oza kufakelwa i-stem cell?
• Ngawaphi amathuba okuba abantwana bam nabo bafumane i-beta thalassemia?

Indlela ofumana ngayo i-beta thalassemia ixhomekeke ekubeni imeko yakho imbi kangakanani na. Nokuba loluphi uhlobo lwe-beta thalassemia, kubalulekile ukusebenzisana neengcali ezinamava ekuxilongeni nasekunyangeni i-thalassemia.

Ukufumana unyango olufanelekileyo kunokuthintela i-anemia kwaye kunciphise umngcipheko weengxaki ezifana nokugcwala kwesinyithi.

Ukusebenza neqela lezonyango elijonga imeko yakho ngokusondeleyo kwaye linikeze isicwangciso sonyango esilungiselelwe wena kunokunceda ukuphucula ukubikezela kwakho.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Beta Thalassemia ayisiyonto yokoyika, kodwa yimeko ekufuneka ilawulwe ngokufanelekileyo . Ukuba wena okanye umntu omaziyo unale meko, kubaluleke kakhulu ukulandela icebiso elifanelekileyo lezonyango, ufumane uvavanyo nonyango olufunekayo . Khumbula, awuwedwa, kwaye kukho oogqirha kunye nabasebenzi bezempilo abanokukunceda. Ngoko ke, ungoyiki ukuthetha nabo ukuba unemibuzo. Siyathemba ukuba olu lwazi luya kukunceda uphile ubomi obusempilweni!

I- Beta thalassemia, i-thalassemia, i-anemia, i-hemoglobin, utshintsho lwemfuza, ukunikela ngegazi, ukugqithiswa kwesinyithi