Thalassemia: yintoni, iimpawu kunye nenketho yokonyango

Umxholo

• Iimpawu eziphambili
• Iindidi zeThalassemia
• 1. Alpha Thalassemia
• 2. Thalassemia Beta
• Indlela yokuqinisekisa ukuxilongwa
• Unyango lwenziwa njani
• 1. I-Thalassemia encinci
• 2. I-thalassemia ephakathi
• 3. I-Thalassemia enkulu
• Iingxaki ezinokwenzeka

I-Thalassemia, ekwabizwa ngokuba yi-Mediterranean anemia, sisifo esizuzwe njengelifa esibonakaliswa ziziphene kwimveliso yehemoglobin, ejongene ikakhulu nokuhambisa ioksijini kwizicwili.

Ukubonakaliswa kweklinikhi ye-thalassemia kuxhomekeke kubungakanani bemixokelelwane echaphazelekayo kwi-hemoglobin kunye nohlobo lokutshintsha kwemfuza olwenzekileyo, olunokubangela ukudinwa, ukudodobala kokukhula, ipallor kunye ne-splenomegaly, umzekelo.

I-Thalassemia sisifo semfuza kunye nelifa, asosuleli okanye sibangelwe kukusilela kwesondlo, nangona kunjalo, kwimeko ezithile ze-thalassemia, unyango lunokubandakanya ukutya okufanelekileyo. Jonga ukuba ukutya kwe-thalassemia kwenziwa njani.

Iimpawu eziphambili

Ngokubanzi, uhlobo oluncinci lwe-thalassemia, olona hlobo luchanekileyo lwesifo, lubangela kuphela i-anemia encinci kunye ne-pallor, engaqhelekanga iqatshelwe ngumguli. Nangona kunjalo, eyona fomu iphambili, lolona hlobo lwesifo lunamandla kunayo yonke, inokubangela:

• Ukudinwa;
• Ukucaphuka
• Amajoni omzimba abuthathaka kunye nokuba sesichengeni kosulelo;
• Ukulibaziseka kokukhula;
• Ukuphefumla okufutshane okanye okusebenzayo ngokulula;
• IPallor;
• Ukungabikho komdla.

Ukongeza, ekuhambeni kwexesha esi sifo sinokubangela iingxaki kudakada, isibindi, intliziyo kunye namathambo, ukongeza kwinyongo, engumbala otyheli wolusu namehlo.

Iindidi zeThalassemia

I-Thalassemia yahlulwe yane-alpha kunye ne-beta ngokokuhambelana kweglobin chain. Kwimeko ye-alpha thalassemia, kukho ukuhla okanye ukungabikho kwemveliso yee-alpha hemoglobin, ngelixa kwi-beta thalassemia kukho ukwehla okanye ukungabikho kwemveliso yeetyathanga ze-beta.

1. Alpha Thalassemia

Kubangelwa luguqulelo lwe-alpha-globin yemolekyuli yegazi, kwaye lungohlulwa lube:

• Uphawu lwealpha thalassemia: ibonakaliswa yi-anemia encinci ngenxa yokunciphisa enye ye-alpha-globin chain;
• Isifo seHemoglobin H: ebonakaliswa kukungabikho kwemveliso ye-3 ye-4 alpha genes enxulumene ne-alpha globin chain, ithathwa njengenye yeendlela ezinobungozi zesifo;
• I-Bart's hemoglobin hydrops fetal syndrome: lolona hlobo lukhulu lwe-thalassemia, kuba lubonakaliswa kukungabikho kwazo zonke iintlobo zealpha, ezikhokelela ekufeni komntwana nangona ekhulelwe;

2. Thalassemia Beta

Kubangelwa lutshintsho kwimolekyuli ye-beta-globin yeehemoglobins zegazi, kwaye inokwahlulwa-hlulwa ibe:

• I-Thalassemia encinci (encinci) okanye uphawu lweBeta-thalassemia: loluphi olunye uhlobo lwesona sifo sinobulali, apho umntu engaziva zimpawu, ngenxa yoko uxilongwa kuphela emva kweemviwo zehematological. Kule meko, akukhuthazwa ukuba wenze unyango oluthile ebomini, kodwa ugqirha unokucebisa ukusetyenziswa kwe-folic acid yokuncedisa ukukhusela i-anemias elula;
• I-Beta-Thalassemia Ephakathi: kubangela i-anemia ethambileyo ukuya kwinto embi, kwaye kunokuba yimfuneko kwisigulana ukufumana utofelo-gazi manqaphanqapha;
• I-Beta thalassemia enkulu okanye enkulu: ngowona mfanekiso ubalulekileyo weklinikhi we-betas thalassemia, njengoko kungekho mveliso yamakhonkco e-beta globin, efuna ukuba isiguli sifumane utofelo-gazi rhoqo ukunciphisa iqondo le-anemia. Iimpawu ziqala ukubonakala kunyaka wokuqala wobomi, zibonakaliswa ziipallor, ukudinwa okugqithisileyo, ukozela, ukuba nochuku, amathambo obuso abonakalayo, amazinyo angahambelaniyo kakuhle kunye nesisu esidumbileyo ngenxa yezitho ezandisiweyo.

Kwiimeko ze-thalassemia enkulu, usenokubona kancinci kunokukhula okuqhelekileyo, okwenza ukuba umntwana abe mfutshane kwaye anciphe kunokuba bekulindelwe ubudala babo. Ukongeza, kwizigulana ezifumana utofelo-gazi rhoqo, ukusetyenziswa kwamayeza athintela i-iron engaphezulu emzimbeni kudla ngokubonakaliswa.

Indlela yokuqinisekisa ukuxilongwa

Ukuxilongwa kwe-thalassemia kwenziwa ngovavanyo lwegazi, njengesixa segazi, ukongeza kwi-hemoglobin electrophoresis, ejolise ekuvavanyeni uhlobo lwe-hemoglobin ejikeleza egazini. Jonga indlela yokutolika ihemoglobin electrophoresis.

Iimvavanyo zemfuzo zingenziwa kwakhona ukuvavanya ii-genes ezinoxanduva lwesifo kunye nokwahlula iintlobo ze-thalassemia.

Uvavanyo lwesithende alufanele lwenziwe ukuxilonga i-thalassemia, kuba ekuzalweni i-hemoglobin eyahlukileyo yahlukile kwaye akukho tshintsho, kunokwenzeka ukuba ichonge i-thalassemia kuphela emva kweenyanga ezintandathu zobomi.

Unyango lwenziwa njani

Unyango lwe-thalassemia kufuneka lukhokelwe ngugqirha kwaye zihlala zihluka ngokobungqongqo besifo:

1. I-Thalassemia encinci

Olu luhlobo lwesifo esincinci kwaye alufuni unyango oluthile. Ngokubanzi, umntu akaziboni iimpawu, kodwa kufuneka aqonde ukwanda kwe-anemia kwiimeko ezinje ngokuhlinzwa, izifo ezinzulu, iimeko zoxinzelelo oluphezulu okanye ngexesha lokukhulelwa.

Ngokubanzi, ugqirha wakho unokucebisa ukuba kusetyenziswe izongezo ze-folic acid, ivithamini evuselela ukuveliswa kweeseli zegazi kunye nokunceda ukunciphisa i-anemia. Jonga ukutya okunothe nge-folic acid kunye nendlela ukutya okunokunceda ngayo ukunyanga i-thalassemia.

2. I-thalassemia ephakathi

Ngokubanzi, unyango lwale fomu ye-thalassemia lwenziwa ngokutofelwa igazi ngexa lobuntwana, kwimeko apho umntwana enokubambezeleka kokukhula, okanye kwiimeko apho kukho udakada kunye nesibindi esandisiweyo.

3. I-Thalassemia enkulu

Sesona sifo sibaluleke kakhulu, apho umntu kufuneka atofelwe igazi ubomi bakhe bonke, rhoqo emva kweeveki ezi-2 ukuya kwezi-4, kuxhomekeke kwinqanaba le-anemia. Unyango kwangoko luqalisiwe, kokukhona kuya kubakho iingxaki ezimbalwa kwesi sifo kwikamva.

Abantu abane-thalassemia enkulu banokugqibela ngokufumana i-iron engaphezulu emzimbeni ngenxa yokumpontshelwa igazi rhoqo, ke ugqirha unokuyalela iziyobisi ezisebenzisa intsimbi, ezibopha intsimbi emzimbeni kwaye zithintele ukugqitha kwayo. La mayeza anokunikwa ngqo emthanjeni amaxesha ama-5 ukuya kwasi-7 ngeveki okanye ngeepilisi.

Iingxaki ezinokwenzeka

Iingxaki zeThalassemia zivela kuphela phakathi kunye neendlela ezinzima zesifo, ngakumbi xa singanyangwa ngokufanelekileyo.

Kwimeko ephakathi kwesi sifo, iingxaki zinokuthi:

• Ukukhubazeka emathanjeni nasemazinyweni;
• IOsteoporosis;
• Amatye e-Gall;
• Izilonda zomlenze, ngenxa yokunqongophala kweoksijini kwiziphelo zomzimba;
• Iingxaki zezintso;
• Umngcipheko ophezulu we-thrombosis;
• Iingxaki zentliziyo.

Kwiimeko ezinzima, iingxaki ezinjengezithambo kunye nokukhubazeka kwamazinyo, ukwandiswa kwesibindi kunye ne-spleen kunye nokuhluleka kwentliziyo.