Koj puas paub txog Beta Thalassemia? Cia peb tham txog nws yooj yim xwb!

Koj puas tau hnov ​​txog tus kab mob hu ua 'thalassemia'? Tej zaum ib tug neeg hauv koj tsev neeg lossis ib tug phooj ywg muaj tus mob no. Qhov no yog ib yam kab mob uas cuam tshuam nrog peb cov ntshav. Hnub no peb yuav tham txog ib hom kab mob thalassemia tseem ceeb , Beta Thalassemia . Txawm hais tias lub npe no yuav zoo li nyuaj me ntsis, peb yuav tham txog nws yooj yim heev, hauv txoj kev uas koj nkag siab tau.

Beta Thalassemia yog dab tsi?

Hais yooj yim xwb, beta thalassemia yog ib qho teeb meem ntshav uas peb lub cev tsis tuaj yeem tsim hemoglobin kom raug. Tam sim no tej zaum koj yuav nug tias, "Hemoglobin yog dab tsi?" Hemoglobin yog ib qho protein uas pom muaj nyob rau hauv peb cov qe ntshav liab uas muaj ntau hlau. Qhov tseeb, nws yog cov khoom xyaw tseem ceeb hauv cov qe ntshav liab.

Xav txog nws li no: hemoglobin zoo li lub tsheb uas pab peb cov qe ntshav liab nqa oxygen. Cov qe ntshav liab no nqa oxygen mus rau lwm cov qe ntshav thiab cov nqaij thoob plaws lub cev. Yog li, peb cov qe ntshav siv cov pa oxygen no los ua lub zog.

Beta thalassemia yog ib hom ntawm ob hom thalassemia tseem ceeb. Hauv qhov no, muaj qee qhov kev hloov pauv (kev hloov pauv ntawm cov noob caj noob ces), uas yog, qhov yuam kev me me, hauv cov noob caj noob ces hauv peb cov protein hemoglobin. Vim yog qhov yuam kev ntawm cov noob caj noob ces no, peb lub cev tsis tuaj yeem tsim cov protein beta-globin hauv hemoglobin kom raug.

Tus kab mob beta thalassemia cuam tshuam li cas rau kuv lub cev?

Thaum peb lub cev tsim cov beta-globin txo qis, peb cov qe ntshav liab yuav puas tsuaj. Tom qab ntawd cov qe ntshav liab uas puas lawm no yuav raug tshem tawm ntawm cov ntshav sai sai. Xav txog tam sim no, yuav ua li cas yog tias cov qe ntshav liab tshiab tsis tuaj yeem tsim los hloov cov uas ploj lawm? Thaum ntawd yog thaum muaj ntshav tsis txaus , lossis tsis txaus ntshav, tshwm sim.

Cov tsos mob ntawm tus kab mob anemia tshwm sim thaum peb tsis muaj cov qe ntshav liab txaus los nqa oxygen mus rau peb lub cev cov nqaij. Tom qab ntawd cov nqaij ntawd tsis tau txais oxygen txaus. Cov tsos mob ntawm tus kab mob anemia uas los nrog beta thalassemia tuaj yeem sib txawv ntawm qhov me me mus rau qhov hnyav , nyob ntawm seb koj cov qe ntshav liab qis npaum li cas.

Leej twg muaj feem yuav mob beta thalassemia ntau dua?

Beta thalassemia yog ib yam kab mob caj ces uas tau txais los ntawm noob caj ces . Qhov no txhais tau tias cov menyuam yaus tau txais qhov tsis zoo ntawm cov noob caj ces uas cuam tshuam nrog tus kab mob no los ntawm lawv niam lawv txiv. Cov neeg feem coob uas muaj beta thalassemia nyob hauv cov tebchaws xws li Africa, thaj tsam Mediterranean, Middle East, Is Nrias teb thiab Southeast Asia. Txawm li cas los xij, vim muaj kev tsiv teb tsaws chaw thoob ntiaj teb, cov neeg mob beta thalassemia tam sim no kuj tau tshaj tawm hauv Northern Europe thiab North America. Tus kab mob no kuj pom muaj nyob hauv peb lub tebchaws, Sri Lanka.

Beta thalassemia feem ntau tshwm sim li cas?

Koj puas paub tias thalassemia yog tus kab mob ua rau muaj ntshav tsis txaus los ntawm noob caj? Muaj ntau txhiab tus neeg mob beta thalassemia tshiab raug kuaj pom txhua xyoo. Txawm li cas los xij, qhov xov xwm zoo yog tias nrog kev txhim kho ntawm cov kev ntsuas tiv thaiv xws li kev kuaj mob kom paub txog cov neeg uas muaj qhov tsis zoo ntawm thalassemia, tus lej ntawm cov neeg mob tau txo qis mus rau qee qhov .

Dab tsi ua rau muaj beta thalassemia?

Qhov ua rau muaj beta thalassemia yog qhov tsis zoo ntawm cov noob caj noob ces (kev hloov pauv) uas txwv tsis pub peb tsim beta-globin hauv peb lub cev. Raws li peb tau hais lawm, hemoglobin muaj plaub txoj saw protein: ob txoj saw alpha-globin thiab ob txoj saw beta-globin . Qhov tsis zoo ntawm txoj saw alpha-globin ua rau alpha thalassemia, thiab qhov tsis zoo ntawm txoj saw beta-globin ua rau beta thalassemia. Yog tias muaj ib qho ntawm cov saw globin no tsis txaus, cov qe ntshav liab yuav puas tsuaj thiab raug rhuav tshem.

Koj tau txais qhov tsis zoo ntawm cov noob caj noob ces rau beta thalassemia hauv tus qauv autosomal recessive . Qhov no tshwm sim thaum ob leeg niam txiv yug los nqa ib daim qauv ntawm cov noob caj noob ces tsis zoo thiab ib daim qauv ntawm cov noob caj noob ces ib txwm muaj. Hauv hom mob beta thalassemia hnyav tshaj plaws, koj tau txais ib daim qauv ntawm cov noob caj noob ces tsis zoo los ntawm ob leeg niam txiv.

Txawm li cas los xij, tsis tshua muaj, beta thalassemia tuaj yeem tshwm sim los ntawm kev txais ib qho beta-globin gene uas tsis zoo. Qhov no hu ua tus qauv autosomal dominant .

Cov hom beta thalassemia yog dab tsi?

Qhov hnyav ntawm koj tus mob nyob ntawm seb muaj pes tsawg tus noob caj noob ces uas koj tau txais thiab qhov chaw uas muaj qhov tsis zoo. Qee qhov teeb meem ntawm noob caj noob ces ua rau tsis muaj beta-globin tsim tawm li (hu ua beta-zero thalassemia ). Lwm qhov teeb meem ua rau tsis muaj beta-globin tsim tawm tsawg heev (hu ua beta-plus thalassemia ).

Muaj ob peb hom beta thalassemia tseem ceeb:

• Beta thalassemia loj (Cooley's anemia): Qhov no yog hom beta thalassemia hnyav tshaj plaws. Hauv qhov no, ob lub noob beta-globin ploj lawm lossis puas lawm. Beta thalassemia loj tam sim no hu ua "transfusion-dependent thalassemia" vim tias cov neeg uas muaj tus mob no xav tau kev hloov ntshav mus tas li.
• Beta thalassemia intermedia: Qhov no tuaj yeem ua rau muaj ntshav tsis txaus me ntsis mus rau nruab nrab. Hauv qhov xwm txheej no, ob qho beta-globin noob ploj lawm lossis puas lawm. Txawm li cas los xij, cov neeg uas muaj beta thalassemia intermedia feem ntau tsis tas yuav pub ntshav rau tas lawv lub neej.
• Beta thalassemia me (tseem hu ua beta thalassemia trait): Qhov no yog ib qho mob uas feem ntau ua rau muaj ntshav tsis txaus. Tsuas muaj ib lub beta-globin gene uas ploj lawm lossis tsis zoo. Ib txhia neeg uas muaj beta thalassemia me yuav tsis muaj tsos mob dab tsi li.

Cov tsos mob ntawm beta thalassemia yog dab tsi?

Koj cov tsos mob yuav nyob ntawm seb koj tus kab mob beta thalassemia hnyav npaum li cas. Piv txwv li, ib tug neeg uas muaj beta thalassemia me me yuav tsis muaj tsos mob lossis yuav muaj ntshav tsis txaus. Cov neeg uas muaj beta thalassemia intermedia thiab tshwj xeeb tshaj yog beta thalassemia loj yuav muaj cov tsos mob nruab nrab lossis hnyav dua.

Cov tsos mob me me

Beta thalassemia me (beta thalassemia trait) feem ntau yog txuam nrog cov tsos mob ntawm anemia me me xws li:

• Kev qaug zog ntau zaus.
• Kiv taub hau los yog tsis muaj zog .
• Mob taub hau ntau zaus.
• Daim tawv nqaij daj ntseg .

Cov tsos mob nruab nrab thiab hnyav

Cov tsos mob hnyav tshaj plaws yog txuam nrog beta thalassemia loj. Qee cov tsos mob no, nyob ntawm seb koj tus mob hnyav npaum li cas, kuj tseem yuav muaj rau cov neeg uas muaj beta thalassemia intermedia. Ntxiv rau cov tsos mob tsis hnyav heev, koj yuav muaj:

• Ua pa nyuaj thaum lub sijhawm ua si.
• Lub plawv dhia ceev zuj zus ( palpitations ).
• Tawv nqaij lossis qhov muag dawb daj ( mob jaundice ).
• Cov zis tsaus los yog xim tshuaj yej.
• Kev loj hlob qeeb lossis kev loj hlob qeeb.
• Mob plab o .
• Kev qaug zog lossis kev puas tsuaj ntawm cov pob txha ntawm caj npab, ceg, thiab lub ntsej muag.

Cov menyuam mos uas muaj tus kab mob beta thalassemia nruab nrab lossis hnyav heev tuaj yeem tsis xis nyob , thiab lawv kuj tseem yuav kis tau kab mob ntau zaus.

Yuav kuaj mob beta thalassemia li cas?

Feem ntau kuaj pom tias muaj tus kab mob beta thalassemia thaum yau . Hom mob hnyav tshaj plaws, beta thalassemia major, yog kuaj pom ua ntej hnub nyoog 2 xyoos, uas txhais tau tias thaum yau. Koj tus kws kho mob yuav kuaj pom tus kab mob beta thalassemia raws li koj cov tsos mob thiab cov txiaj ntsig ntawm kev kuaj ntshav.

Cov kev kuaj mob yog dab tsi?

Koj tus kws kho mob yuav kuaj mob beta thalassemia los ntawm kev kuaj ntshav yooj yim thiab soj ntsuam nws. Kev kuaj mob yuav suav nrog:

• Kev suav cov ntshav tag nrho (CBC): Kev kuaj CBC muab cov ntaub ntawv hais txog koj cov qe ntshav, suav nrog koj cov qe ntshav liab. Nws tuaj yeem qhia tau yog tias koj muaj cov qe ntshav liab tsawg, yog tias lawv me dua li qub, muaj cov duab txawv, lossis dawb (liab dawb). Cov tsos mob no tuaj yeem yog cov cim ntawm thalassemia.
• Tus lej ntawm cov qe ntshav liab (reticulocyte): Cov qe ntshav liab uas tseem tsis tau loj hlob hu ua reticulocytes. Yog tias tus lej ntawm cov qe ntshav liab tsawg txhais tau tias koj lub cev tsis tsim cov qe ntshav liab txaus. Txawm li cas los xij, hauv thalassemia major, tus lej ntawm cov qe ntshav liab feem ntau siab dua. Qhov no yog vim koj lub cev tab tom sim tsim cov qe ntshav liab ntau dua los them rau kev puas tsuaj ntawm cov qe ntshav liab uas muaj hemoglobin tsis zoo.
• Kev kuaj mob noob caj noob ces molecular: Qhov kev kuaj no tso cai rau koj tus kws kho mob kuaj xyuas koj cov hemoglobin thiab txheeb xyuas qhov teeb meem noob caj noob ces uas cuam tshuam nrog beta thalassemia.
• Hemoglobin electrophoresis: Qhov kev kuaj no ntsuas cov protein hemoglobin sib txawv hauv koj cov ntshav. Hauv beta thalassemia, qee hom protein hemoglobin nce, thaum lwm yam txo qis.

Yog tias muaj kev xav tias koj tus menyuam hauv plab yuav tau txais cov noob caj noob ces tsis zoo, koj tus kws kho mob yuav ua qhov kev kuaj hu ua Chorionic Villus Sampling (CVS) lossis Amniocentesis thaum cev xeeb tub. CVS kuaj ib feem ntawm lub placenta kom nrhiav cov cim ntawm qhov tsis zoo ntawm cov noob caj noob ces. Lub placenta yog lub cev uas pab koj thiab koj tus menyuam sib pauv cov as-ham thaum cev xeeb tub. Amniocentesis kuaj cov kua dej nyob ib puag ncig koj tus menyuam kom nrhiav cov cim ntawm beta thalassemia.

Yuav kho tus kab mob beta thalassemia li cas?

Feem ntau koj yuav tsum tau ua haujlwm nrog ib pab neeg saib xyuas uas muaj ntau tus kws tshwj xeeb. Nws yog ib qho tseem ceeb heev uas yuav tsum ua haujlwm nrog ib tus kws tshwj xeeb uas kho cov kab mob ntsig txog ntshav, uas yog ib tus kws kho mob ntshav .

Cov kev xaiv kho mob yuav muaj xws li:

• Kev hloov ntshav: Ib tug neeg uas muaj tus kab mob beta thalassemia loj yuav tsum tau pub ntshav ntau zaus (tej zaum txhua ob lub lis piam). Thaum lub sijhawm no, koj tau txais ntshav los ntawm tus neeg pub ntshav. Cov qe ntshav liab los ntawm kev pub ntshav no pab nqa cov pa oxygen mus rau cov nqaij thoob plaws lub cev.
• Kev kho mob hlau chelation: Hlau yog ib feem tseem ceeb ntawm cov protein hemoglobin uas pab nqa oxygen. Txawm li cas los xij, hlau ntau dhau tuaj yeem ua rau muaj kev phom sij. Kev kho mob hlau chelation tuaj yeem tiv thaiv kev ntau dhau ntawm hlau.
• Cov tshuaj folic acid ntxiv: Folic acid tuaj yeem pab koj lub cev tsim cov qe ntshav liab. Yog tias koj muaj beta thalassemia me, koj tus kws kho mob yuav pom zoo kom noj cov tshuaj no. Yog tias koj tus mob hnyav heev, koj yuav tsum noj folic acid ntxiv rau kev pub ntshav tsis tu ncua.
• Luspatercept: Yog tias koj muaj thalassemia loj, koj yuav raug txhaj tshuaj hu ua luspatercept txhua peb lub lis piam los pab koj lub cev tsim cov qe ntshav liab ntau dua. Luspatercept pab txo cov ntshav tsis txaus hauv cov neeg mob beta thalassemia uas pub ntshav.
• Kev hloov pob txha thiab cov hlwb ntawm cov noob:Koj tuaj yeem tau txais cov hlwb pob txha los ntawm tus neeg pub dawb. Cov hlwb pob txha no yog cov uas tom qab ntawd hloov mus ua cov hlwb ntshav liab. Beta thalassemia tuaj yeem kho tau los ntawm kev hloov koj cov hlwb pob txha nrog cov hlwb los ntawm tus neeg pub dawb noj qab haus huv. Txawm li cas los xij, kev nrhiav tus neeg pub dawb sib phim yog ib qho nyuaj. Tsis tas li ntawd, hom kev hloov pauv no suav tias yog ib qho txheej txheem muaj kev pheej hmoo siab.

Cov teeb meem lossis cov kev mob tshwm sim ntawm kev kho mob yog dab tsi?

Qhov teeb meem feem ntau ntawm kev pub ntshav yog muaj hlau ntau dhau . Thaum koj pub ntshav, koj lub cev tau txais cov qe ntshav liab thiab hlau ntxiv. Thaum koj pub ntshav tas li, cov hlau ntau dhau no tuaj yeem sib sau ua ke thiab ua rau cov kab mob tseem ceeb xws li lub siab, lub plawv, thiab lub txiav ua kab mob puas tsuaj. Yog tias koj yog tus pub ntshav ntau zaus, nrog koj tus kws kho mob tham txog seb koj yuav tsum noj tshuaj chelation iron ntau npaum li cas kom tshem tawm cov hlau ntau dhau ntawm koj lub cev.

Koj yuav ua li cas thiaj li txo tau qhov kev pheej hmoo ntawm kev muaj beta thalassemia?

Koj tsis tuaj yeem txo koj txoj kev pheej hmoo ntawm kev tau txais qhov tsis zoo ntawm cov noob caj noob ces uas cuam tshuam nrog beta thalassemia. Txawm li cas los xij, koj tuaj yeem tiv thaiv koj tus menyuam kom tsis txhob tau txais nws. Yog tias koj lossis koj tus khub muaj kev pheej hmoo ntawm kev ua tus nqa cov teeb meem ntawm cov noob caj noob ces no thiab vam tias yuav muaj menyuam, tham nrog koj tus kws kho mob txog kev kuaj mob beta thalassemia.

Puas kho tau tus kab mob beta thalassemia?

Tib txoj kev kho mob beta thalassemia tam sim no yog kev hloov pob txha thiab cov noob hlwb los ntawm tus neeg pub dawb uas phim. Txawm li cas los xij, kev nrhiav tus neeg pub dawb uas phim feem ntau nyuaj. Txawm tias cov tswv cuab hauv tsev neeg kuj tsis raug suav hais tias yog cov neeg pub dawb uas tsim nyog.

Cov kws tshawb nrhiav tab tom kawm txog lwm yam kev kho mob rau beta thalassemia, xws li hloov cov noob caj noob ces uas tsis zoo nrog cov noob caj noob ces noj qab nyob zoo ( kev kho noob caj noob ces ). Txoj haujlwm no tseem nyob rau theem pib.

Lub neej cia siab ntawm ib tug neeg uas muaj beta thalassemia yog ntev npaum li cas?

Beta thalassemia yog ib yam kab mob uas kho tau . Cov neeg uas muaj hom beta thalassemia me me thiab nruab nrab, xws li me me thiab nruab nrab, tuaj yeem cia siab tias yuav muaj lub neej ntev li qub yog tias lawv ua raws li lawv tus kws kho mob cov lus qhia kho mob. Txawm li cas los xij, beta thalassemia loj tuaj yeem ua rau lawv lub neej luv dua. Qhov ua rau tuag feem ntau hauv tus mob no yog lub plawv tsis ua haujlwm vim muaj hlau ntau dhau.

Tham nrog koj tus kws kho mob txog koj qhov kev kwv yees raws li qhov hnyav ntawm koj tus mob.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Nug koj tus kws kho mob seb koj yuav tsum tau kuaj ntshav thiab kho mob ntau npaum li cas, thiab koj yuav tsum hloov pauv koj txoj kev ua neej li cas los tswj koj tus mob.

Qee cov lus nug koj tuaj yeem nug:

• Kuv muaj hom beta thalassemia twg?
• Kuv yuav tsum tau kho mob li cas los tswj kuv tus mob?
• Yuav ua li cas thiaj txo tau qhov kev pheej hmoo ntawm cov teeb meem los ntawm kev kho mob?
• Kuv yuav tsum tau kuaj ntshav ntau npaum li cas los saib xyuas kuv tus mob?
• Kuv yuav tau kuaj ntshav li cas?
• Kuv yuav tsum hloov pauv dab tsi hauv kuv lub neej (piv txwv li, kev noj zaub mov, kev tawm dag zog) kom tswj tau kuv tus mob?
• Kuv puas yog tus neeg sib tw rau kev hloov pauv stem cell?
• Muaj feem ntau npaum li cas uas kuv cov menyuam yuav muaj tus kab mob beta thalassemia?

Koj tus mob beta thalassemia li cas nyob ntawm seb koj tus mob hnyav npaum li cas. Txawm yog hom beta thalassemia twg los xij, nws yog ib qho tseem ceeb uas yuav tsum tau nrog cov kws tshwj xeeb uas muaj kev paub txog kev kuaj mob thiab kho thalassemia ua haujlwm.

Kev kho mob kom zoo yuav pab tiv thaiv tau qhov ntshav tsis txaus thiab txo qhov kev pheej hmoo ntawm cov teeb meem xws li muaj hlau ntau dhau.

Kev ua haujlwm nrog pab pawg neeg saib xyuas kev noj qab haus huv uas saib xyuas koj tus mob zoo thiab muab kev npaj kho mob raws li koj xav tau tuaj yeem pab txhim kho koj qhov kev kwv yees.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Beta Thalassemia tsis yog ib yam dab tsi uas yuav tsum ntshai, tab sis nws yog ib yam mob uas yuav tsum tau tswj hwm kom zoo . Yog tias koj lossis ib tus neeg koj paub muaj tus mob no, nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia kho mob kom zoo, mus kuaj mob thiab kho mob kom raug . Nco ntsoov tias, koj tsis nyob ib leeg, thiab muaj cov kws kho mob thiab cov neeg ua haujlwm kho mob uas tuaj yeem pab koj. Yog li, tsis txhob ntshai tham nrog lawv yog tias koj muaj lus nug. Peb vam tias cov ntaub ntawv no yuav pab koj ua neej noj qab haus huv!

Beta thalassemia, thalassemia, ntshav tsis txaus, hemoglobin, kev hloov pauv ntawm cov noob caj noob ces, kev pub ntshav, hlau ntau dhau