Yu no bɔt Beta Thalassemia? Lɛ wi tɔk bɔt am simpul wan!

Yu dɔn ɛva yɛri bɔt di sik we dɛn kɔl ‘thalassemia’? Sɔntɛm sɔmbɔdi na yu famili ɔr yu padi gɛt dis sik. Dis na rili sik we gɛt fɔ du wit wi blɔd. Tide wi go tɔk bɔt wan pan di men kayn thalassemia , Beta Thalassemia . Pan ɔl we dis nem kin tan lɛk se i kɔmplikt smɔl, wi go tɔk bɔt am simpul wan, di we we yu go ɔndastand.

Wetin na Beta Thalassemia?

Fɔ tɔk am simpul wan, beta thalassemia na wan sik we de mek wi bɔdi nɔ ebul fɔ mek ɛmoglobin fayn fayn wan . Naw yu kin de aks se, "Wetin na ɛmoglobin?" Ɛmoglobin na wan prɔtin we de insay wi rɛd blɔd sɛl dɛn we gɛt bɔku ayɔn. Infakt, na in na di men tin we de mek di rɛd blɔd sɛl dɛn.

Tink bɔt dis we: ɛmoglobin tan lɛk motoka we de ɛp wi rɛd blɔd sɛl dɛn fɔ kɛr ɔksijɛn. Dɛn rɛd blɔd sɛl ya kin kɛr ɔksijɛn go na ɔda sɛl dɛn ɛn tisu dɛn ɔlsay na di bɔdi. So, wi sɛl dɛn de yuz dis ɔksijɛn fɔ mek ɛnaji.

Beta thalassemia na wan pan di tu men kayn thalassemia. insay dis, sכm chenj dεm de (jin mכtεshכn), dat na sכm sכm mistek, na di jin dεm na wi εmoglobin protin. Bikɔs ɔf dis jin mistek, wi bɔdi nɔ ebul fɔ mek di beta-globin protin we de insay ɛmoglobin fayn fayn wan.

Aw beta thalassemia kin afɛkt mi bɔdi?

We di beta-globin we wi bɔdi de mek nɔ bɔku, wi rɛd blɔd sɛl dɛn kin pwɛl. Dɔn dɛn kin pul dɛn rɛd blɔd sɛl dɛn ya we dɔn pwɛl kwik kwik wan na di blɔd. Naw, imajin, wetin go apin if dɛn nɔ ebul fɔ mek nyu rɛd blɔd sɛl dɛn fɔ tek di ples fɔ di wan dɛn we dɔn lɔs? Na da tɛm de, anemia , ɔ blɔd we nɔ gɛt bɛtɛ blɔd, kin kam.

Di sayn dɛm fɔ anemia kin apin we wi nɔ gɛt inof rɛd blɔd sɛl fɔ kɛr ɔksijɛn go na wi bɔdi in tisu dɛm. Dɔn dɛn tisu dɛn de nɔ kin gɛt inof ɔksijɛn. Di sayn dɛm fɔ anemia we kin kam wit beta thalassemia kin kɔmɔt frɔm smɔl to siriɔs , i kin dipen pan aw yu rɛd blɔd sɛl nɔ bɔku.

Udat dɛn gɛt mɔ risk fɔ gɛt beta thalassemia?

Beta thalassemia na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa . Dis min se pikin dɛn kin gɛt di jin difrɛns we gɛt fɔ du wit dis sik frɔm dɛn mama ɛn papa. Bɔrku pipul dɛm wae gɛt beta thalassemia de liv na kɔntri dɛm lɛk Afrika, di Mɛditarenian rijɔn, di Midul Is, India ɛn Sawt Is Eshia. Bɔt bikɔs ɔf di maygrɛshɔn ɔlsay na di wɔl, naw dɛn de ripɔt beta thalassemia pasɛnt dɛn bak na Nɔtan Yurop ɛn Nɔt Amɛrika. Dɛn kin si dis sik bak na wi kɔntri, Sri Lanka.

Aw kɔmɔn tin na beta talasemia?

Yu no se talasemia na di men tin we kin mek pɔsin gɛt blɔd we pɔsin kin gɛt frɔm in mama ɛn papa? Dɛn kin no bɔku bɔku nyu wan dɛn we gɛt beta thalassemia ɛvri ia. Bɔt di gud nyus na dat , wit di impɔtant tin dɛn we dɛn dɔn du fɔ mek dɛn nɔ gɛt di sik lɛk fɔ chɛk pipul dɛn we gɛt di thalassemia jin difrɛns, di nɔmba fɔ di wan dɛn we gɛt di sik dɔn go dɔŋ to sɔm mak .

Wetin kin mek pɔsin gɛt beta thalassemia?

di men tin we de mek beta thalassemia na wan jεnεtik difεkt (mכtεshכn) we de sכmtεm sכmtεm we de mek di beta-globin na wi bכdi. as wi bin dכn tכk, εmoglobin kכmכt fכ fכ protin chen dεm: tu alfa-globin chen dεm εn tu beta-globin chen dεm. difεkt dεm na di alfa-globin chen kin mek di alfa thalassemia, εn difεkt dεm na di beta-globin chen kin mek di beta thalassemia. If ɛni wan pan dɛn globin chen ya nɔ de, di rɛd blɔd sɛl dɛn kin pwɛl ɛn pwɛl.

yu inhεrit di jin dεfεkt fכ beta thalassemia in wan כtosom rεsεsiv patεn . Dis kin apin we di mama ɛn papa dɛn ɔl tu gɛt wan kɔpi fɔ di jin we nɔ fayn ɛn wan kɔpi fɔ di nɔmal jin. Insay di kayn we we rili bad fɔ beta thalassemia, yu kin gɛt kɔpi fɔ di jin we nɔ fayn frɔm yu mama ɛn papa dɛn ɔl tu.

Bɔt i nɔ kin izi fɔ mek dɛn gɛt beta talasemia bay we dɛn gɛt jɔs wan beta-globin jin we nɔ fayn. dis dεn kכl am כtosom dכminant patεn .

Wetin na di kayn beta thalassemia?

Aw yu sik kin tranga kin dipen pan di nɔmba fɔ di jin dɛn we nɔ fayn we yu gɛt ɛn usay di prɔblɛm de. Sɔm jin dɛn we nɔ fayn kin mek dɛn nɔ mek ɛni beta-globin atɔl (dɛn kɔl am beta-ziro thalassemia ). Ɔda tin dɛn we nɔ fayn kin mek dɛn mek smɔl beta-globin (dɛn kɔl am beta-plus thalassemia ).

Sɔm men kayn beta talasemia de:

• Beta thalassemia major (Cooley’s anemia): Dis na di kayn we we kin rili bad fɔ beta thalassemia. insay dis, di tu beta-globin jin dεm nכ de כ dεfεkt. Naw dɛn kɔl di beta thalassemia major "transfusion-dependent thalassemia" bikɔs pipul dɛn we gɛt dis sik nid fɔ gɛt blɔd fɔ ɔl dɛn layf.
• Beta thalassemia intermedia: Dis kin mek yu gɛt smɔl to mɔdaret anemia. insay dis kכndishכn, di tu beta-globin jin dεm nכ de כ dεfεkt. Bɔt pipul dɛn we gɛt beta thalassemia intamɛdia nɔ kin nid fɔ gi blɔd fɔ di res ɔf dɛn layf.
• Beta thalassemia minor (ɔ beta thalassemia trait): Bɔku tɛm dis kin mek yu gɛt smɔl smɔl anemia simptom. Insay dis, na wan beta-globin jin nɔmɔ nɔ de ɔ i nɔ fayn. Sɔm pipul dɛm wae gɛt beta thalassemia minor nɔr kin sho ɛni sayn.

Wetin na di sayn dɛm fɔ beta thalassemia?

Yu simptom go dipen pan aw yu beta thalassemia tranga. Fɔ ɛgzampul, pɔsin we gɛt beta thalassemia minor kin nɔ gɛt ɛni sayn ɔ i kin gɛt rili smɔl anemia. Pipul dɛm wae gɛt beta thalassemia intermedia ɛn mɔr lɛk beta thalassemia major kin gɛt mɔdaret ɔr mɔr siriɔs simptom dɛm.

Sɔm sayn dɛn we nɔ at fɔ si

Beta thalassemia minor (beta thalassemia trait) kin gɛt fɔ du wit smɔl smɔl anemia simptom dɛm lɛk:

• Fɔ taya bɔku tɛm .
• Diziz ɔ wik .
• Di ed we kin at bɔku tɛm .
• Pale skin .

Mɔdaret ɛn siriɔs sayn dɛm

Di simptom dɛm we kin rili bad kin gɛt fɔ du wit beta thalassemia major. Sɔm pan dɛn sik ya, dipen pan aw yu sik bad, kin de bak pan pipul dɛm wae gɛt beta thalassemia intermedia. Apat frɔm di sayn dɛm wae nɔr kin izi fɔ yu, yu kin gɛt:

• I nɔ kin izi fɔ yu fɔ blo we yu de du ɛksɛsayz.
• Inkrεs hat rεt ( palpitations ).
• Di skin kin yɔlɔ ɔ di yay kin wayt ( jaundice ).
• Urin we gɛt dak ɔ we gɛt ti kɔlɔ.
• Slow growth or delay divεlכpmεnt.
• Di bɛlɛ we de blo .
• We di bon dɛn na di an, di fut, ɛn di fes wik ɔ nɔ fayn .

Yɔŋ pikin dɛn we gɛt mɔdaret ɔ siriɔs beta thalassemia kin rili nɔ rɛst , ɛn dɛn kin gɛt infɛkshɔn bak bɔku tɛm.

Aw dɛn kin no se pɔsin gɛt beta thalassemia?

Bɔku tɛm dɛn kin no se dɛn gɛt beta thalassemia we dɛn smɔl . Di kayn we we kin rili bad, we na beta thalassemia major, dɛn kin no am bifo i ol 2 ia, we min se na we i smɔl. Yu dɔktɔ go no se yu gɛt beta thalassemia bay di sayn dɛm we yu gɛt ɛn di rizɔlt fɔ yu blɔd tɛst.

Wetin na di tɛst dɛn we dɛn kin du fɔ no if pɔsin gɛt sik?

Yu dɔktɔ go no se yu gɛt beta thalassemia bay we i tek wan simpul blɔd sɛmpul ɛn analayz am. Di tɛst dɛn kin inklud:

• Kɔmplit Blɔd Kɔnt (CBC): CBC tɛst de gi infɔmeshɔn bɔt yu blɔd sɛl dɛn, ivin yu rɛd blɔd sɛl dɛn. I kin sho if yu gɛt smɔl nɔmba pan di rɛd blɔd sɛl dɛn, if dɛn smɔl pas aw i fɔ bi, if dɛn gɛt ɔda shep, ɔ dɛn nɔ gɛt bɛtɛ blɔd (layt rɛd). Dɛn sayn ya kin bi sayn fɔ thalassemia.
• rεtikulכsayt kכnt: dεn kכl di rεtikulכsayt dεm we nכ machכ rεtikulכsayt. If yu nɔ gɛt bɔku rɛtikulosayt, dat min se yu bɔdi nɔ de mek inof rɛd blɔd sɛl dɛn. כltu, insay thalassemia major, di rεtikulכsayt kכnt kin כlwayz εlevεt. Dis na bikɔs yu bɔdi de tray fɔ mek mɔ rɛd blɔd sɛl dɛn fɔ kɔmpɛns di pwɛl pwɛl we di rɛd blɔd sɛl dɛn de pwɛl wit abnɔmal ɛmoglobin.
• Mɔlikul jenɛtik tɛst: Dis tɛst de mek yu dɔktɔ ebul fɔ chɛk yu ɛmoglobin gud gud wan ɛn no di jenɛtik dɛfɛkt we gɛt fɔ du wit beta thalassemia.
• εmoglobin εlektrofכresis: Dis tεst de mכsu di difrεn kayn εmoglobin protin dεm we de na yu bכdi. Insay beta thalassemia, sɔm kayn ɛmoglobin protin dɛn kin bɔku, ɛn ɔda wan dɛn kin go dɔŋ.

If yu tink se yu pikin we nɔ bɔn yet go dɔn gɛt di jin we nɔ fayn, yu dɔktɔ kin du wan tɛst we dɛn kɔl Chorionic Villus Sampling (CVS) ɔ Amniocentesis we i gɛt bɛlɛ. CVS de tεst wan pat pan di plasεnta fכ luk fכ sayn dεm fכ di jεnεtik difεkt. di plasεnta na di כgan we de εp yu εn yu pikin fכ chenj di nyutriεnt dεm we yu bεlε. Amniocentesis de tεst di wata we de rawnd yu pikin fכ luk fכ sayn dεm fכ beta thalassemia.

Aw dɛn kin trit beta talasemia?

Bɔku tɛm yu go gɛt fɔ wok wit wan tim we de kia fɔ pipul dɛn we gɛt difrɛn spɛshal pipul dɛn. I impɔtant mɔ fɔ wok wit spɛshal dɔktɔ we de mɛn sik dɛn we gɛt fɔ du wit blɔd, we na dɔktɔ we de mɛn blɔd .

Di tritmɛnt we dɛn kin pik kin bi:

• Blɔd transfyushɔn: Pɔsin we gɛt beta thalassemia major kin nid fɔ gi blɔd bɔku tɛm (sɔntɛm ɛvri tu wik). We yu de du dis, yu kin gɛt blɔd frɔm pɔsin we gi yu blɔd. di rεd bכdi sεl dεm we de kכmכt frכm dis bכdi we dεn gi de εp fכ kכri כksijεn to di tisu dεm כlsay na di bכdi.
• Iron chelation therapy: Ayron na impɔtant pat pan di ɛmoglobin protin we de ɛp fɔ kɛr ɔksijɛn. Bɔt if yu gɛt ayɛn tumɔs, dat kin ambɔg yu. Ayron chelation therapy kin mek yu nɔ gɛt ayron ɔva lod.
• Fɔlik asid sɔpɔtmɛnt: Fɔlik asid kin ɛp yu bɔdi fɔ mek rɛd blɔd sɛl dɛn. If yu gɛt beta thalassemia minor, yu dɔktɔ kin tɛl yu fɔ tek dis sɔpɔt. If yu sik bad, yu kin nid fɔ tek fɔlik asid apat frɔm we yu de gi blɔd ɔltɛm.
• Luspatercept: If yu gɛt thalassemia major, dɛn kin gi yu wan injɛkshɔn we dɛn kɔl luspatercept ɛvri tri wik fɔ ɛp yu bɔdi fɔ mek mɔ rɛd blɔd sɛl. Luspatercept de ɛp fɔ ridyus anemia pan beta thalassemia pasɛnt dɛn we de gi blɔd.
• Bon mכro εn stεm sεl transplant:Yu kin gɛt bon mɛrɔ stem sɛl frɔm pɔsin we gi yu. Dɛn stem sɛl ya na di wan dɛn we leta kin bi rɛd blɔd sɛl. Yu kin mɛn beta thalassemia bay we yu riples yu bon mɛro stem sɛl dɛn wit stem sɛl dɛn frɔm pɔsin we gɛt wɛlbɔdi. Bɔt fɔ fɛn pɔsin we go gi di mɔni we go gri wit am na tin we nɔ izi fɔ du. Dɔn bak, dɛn kin tek dis kayn transplant as sɔntin we gɛt bɔku prɔblɛm.

Wetin na de kɔmplikeshɔn ɔr sayd ɛfɛkt dɛm wae de tritmɛnt kin gɛt?

Di prɔblɛm we kin apin we pɔsin gi blɔd na we i gɛt bɔku bɔku ayɛn . We yu gi blɔd, yu bɔdi kin gɛt ɛkstra rɛd blɔd sɛl ɛn ayɛn. We yu gi blɔd bɔku tɛm, dis ayɛn we pasmak kin gɛda ɛn pwɛl impɔtant pat dɛn lɛk di liva, at, ɛn pankrias. If yu na pɔsin we de gi blɔd ɔltɛm, tɔk to yu dɔktɔ bɔt aw ɔltɛm yu fɔ tek ayɔn chɛleshɔn tɛrapi fɔ pul di ayɔn we pasmak na yu bɔdi.

Aw yu go ridyus di risk fɔ gɛt beta thalassemia?

Yu nɔ go ebul fɔ ridyus yu risk fɔ gɛt wan jin dɛfekt we gɛt fɔ du wit beta thalassemia. Bɔt yu kin mek yu pikin nɔ gɛt am. If yu ɔ yu patna de pan denja fɔ gɛt dis jin difrɛns ɛn yu de op fɔ bɔn pikin, tɔk to yu dɔktɔ bɔt aw dɛn go chɛk yu fɔ beta thalassemia.

Yu tink se dɛn kin mɛn beta talasemia?

di onli kכreshכn fכ beta thalassemia na fכ bon mכro εn stεm sεl transplant frכm wan mach dכna. Bɔt bɔku tɛm, i nɔ kin izi fɔ fɛn pɔsin we fit fɔ gi mɔni. Ivin famili mɛmba dɛn nɔ kin tek dɛn as pipul dɛn we fit fɔ gi mɔni.

Naw, di wan dɛn we de stɔdi bɔt dis de stɔdi ɔda tritmɛnt dɛn fɔ beta thalassemia, lɛk fɔ chenj di jin dɛn we nɔ fayn wit di wan dɛn we gɛt wɛlbɔdi ( jin tɛrapi ). Dis wok stil de na in fɔs stej.

Wetin na di layf we pɔsin we gɛt beta thalassemia kin liv?

Beta thalassemia na wan sik we pɔsin kin mɛn . Pipul wae gɛt smɔl ɛn mɔdaret kayn beta talasemia, lɛk smɔl ɛn intamɛdiya, kin ɛkspɛkt fɔ liv nɔrmal layf if dɛn fala dɛn dɔktɔ in tritmɛnt instrɔkshɔn. Bɔt, beta thalassemia major kin mek dɛn layf shɔt. De tin wae kin mek pɔrsin day pan dis sik na wae at kin pwɛl wae pɔrsin gɛt ayron pasmak.

Tɔk to yu dɔktɔ bɔt yu prɔgnosis bay aw yu sik siriɔs.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Aks yu dɔktɔ aw ɔltɛm yu fɔ du blɔd tɛst ɛn tritmɛnt, ɛn us layf yu fɔ chenj fɔ mek yu ebul fɔ kɔntrol yu sik.

Sɔm kwɛstyɔn dɛn we yu kin aks:

• Us kayn beta thalassemia a gɛt?
• Us kayn tritmɛnt a go nid fɔ kɔntrol mi sik?
• Aw dɛn go ridyus di prɔblɛm dɛn we kin kam wit di tritmɛnt?
• Aw ɔltɛm a fɔ du blɔd tɛst fɔ no aw a de sik?
• Us kayn blɔd tɛst a go du?
• Us chenj na mi layf (e.g., it, ɛksesaiz) a nid fɔ mek fɔ manej mi kɔndishɔn?
• Mi na kandidet fɔ mek dɛn transplant mi stem sɛl?
• Wetin na di chans fɔ mek mi pikin dɛnsɛf gɛt beta thalassemia?

Aw yu kin gɛt beta thalassemia kin dipen pan aw yu sik bad. I nɔ mata di kayn beta talasemia, i impɔtant fɔ wok wit spɛshal pipul dɛn we gɛt ɛkspiriɛns fɔ no ɛn trit talasemia.

If yu gɛt di rayt tritmɛnt, i kin mek yu nɔ gɛt blɔd ɛn i kin mek yu nɔ gɛt bɔku prɔblɛm dɛn lɛk we yu gɛt bɔku bɔku ayɛn.

Fɔ wok wit wɛl bɔdi tim wae de wach yu sik gud gud wan ɛn gi yu wan kɔstɔmayt kia plan kin ɛp fɔ mek yu prɔgnosis bɛtɛ.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Beta Thalassemia nɔto sɔntin we pɔsin fɔ fred, bɔt na wan sik we dɛn nid fɔ mɛn fayn fayn wan . If yu ɔr pɔrsin wae yu sabi gɛt dis sik, e fayn fɔ fala di rayt advays wae de gi yu, gɛt di tɛst ɛn tritmɛnt wae yu nid . Mɛmba se nɔto yu wangren de, ɛn dɔktɔ ɛn wɛlbɔdi wokman dɛn de we go ɛp yu. So, nɔ fred fɔ tɔk to dɛn if yu gɛt ɛni kwɛstyɔn. Wi op se dis infɔmeshɔn go ɛp yu fɔ liv fayn layf!

` Beta thalassemia, thalassemia, anemia, hemoglobin, jenɛtik muteshon, blɔd doneshɔn, ayɔn ɔvalod