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MTHFR Kev Tshawb Nrhiav Kev Hloov - Tshuaj Kho Mob
MTHFR Kev Tshawb Nrhiav Kev Hloov - Tshuaj Kho Mob

Zoo Siab

MTHFR kev hloov pauv yog dab tsi?

Qhov kev kuaj no zoo rau kev hloov pauv (hloov pauv) hauv ib lub gene hu ua MTHFR. Cov noob yog qhov tseem ceeb ntawm caj ces dhau los ntawm koj niam thiab koj txiv.

Txhua tus muaj ob tus MTHFR noob, ib tus txais los ntawm koj niam thiab ib los ntawm koj txiv. Kev sib hloov tuaj yeem tshwm sim hauv ib lossis ob qho tib si MTHFR noob. Nws muaj ntau yam sib txawv ntawm MTHFR kev sib pauv. Kev kuaj MTHFR zoo rau ob txoj kev sib hloov no, tseem hu ua variants. MTHFR qhov hloov pauv hu ua C677T thiab A1298C.

Lub MTHFR noob neej pab koj lub cev zom cov tshuaj hu ua homocysteine. Homocysteine ​​yog ib hom amino acid, tshuaj uas koj lub cev siv los ua cov protein. Nquag, folic acid thiab lwm cov vitamins B zom cov homocysteine ​​thiab hloov mus rau lwm yam khoom uas koj lub cev xav tau. Yuav tsum muaj ces tseem tshuav tsawg homocysteine ​​nyob rau hauv cov hlab ntshav.

Yog tias koj muaj MTHFR hloov, koj cov MTHFR noob yuav tsis ua haujlwm. Qhov no yuav ua rau muaj ntau homocysteine ​​los tsim cov ntshav, ua rau muaj ntau yam teebmeem kev noj qab haus huv, suav nrog:


  • Homocystinuria, kev tsis sib haum xeeb uas cuam tshuam rau lub qhov muag, pob qij txha, thiab lub peev xwm ntawm kev txawj ntse. Feem ntau nws pib thaum yau.
  • Ib qho kev pheej hmoo ntxiv ntawm kab mob plawv, mob stroke, ntshav siab, thiab txhaws ntshav

Ntxiv rau, cov poj niam uas muaj MTHFR hloov pauv muaj qhov muaj feem yuav muaj me nyuam nrog ib qho zoo li hauv qab no:

  • Spina bifida, lub npe hu ua neural tube defect. Qhov no yog qhov mob uas cov pob txha ntawm tus txha nqaj qaum tsis kaw kiag li txha nqaj qaum.
  • Anencephaly, lwm yam ntawm cov hlab ntsha neural kho. Hauv qhov tsis txaus siab no, feem ntawm lub hlwb thiab / lossis pob txha taub hau yuav ploj los yog puas.

Koj tuaj yeem txo koj cov qib homocysteine ​​los ntawm kev noj folic acid los yog lwm cov vitamins B Cov no tuaj yeem noj los ua kev pabcuam ntxiv lossis ntxiv los ntawm kev hloov kev noj zaubmov. Yog tias koj xav noj folic acid lossis lwm cov vitamins B, koj tus neeg saib xyuas kev noj qab haus huv yuav qhia cov kev xaiv zoo tshaj rau koj.

Lwm lub npe: ntshav tag nrho homocysteine, methylenetetrahydrofolate reductase kev hloov pauv hloov DNA


Nws siv rau dab tsi?

Qhov kev ntsuas no yog siv los nrhiav seb koj puas muaj ib qho ntawm ob qho kev hloov pauv MTHFR: C677T thiab A1298C. Nws feem ntau siv tom qab lwm cov kev ntsuam xyuas pom tias koj muaj ntau dua li ib homocysteine ​​qib hauv cov ntshav. Cov mob xws li cov roj cholesterol siab, tus kab mob thyroid, thiab kev noj zaub mov tsis zoo kuj tseem tuaj yeem nce qib homocysteine. Kev kuaj MTHFR yuav paub meej tias seb cov qib tsa puas yog los ntawm kev hloov caj ces.

Txawm hais tias kev hloov pauv MTHFR ua rau muaj kev pheej hmoo tiv thaiv menyuam tsis taus ntau, qhov kev sim no tsis pom zoo rau cov poj niam cev xeeb tub. Noj folic acid pab ntxiv thaum cev xeeb tub tuaj yeem txo qhov kev pheej hmoo ntawm cov leeg ntshav muaj tsis zoo. Yog li cov pojniam cev xeeb tub feem ntau raug txhawb kom noj folic acid, txawm lawv muaj MTHFR hloov pauv los tsis ua.

Vim li cas kuv thiaj li xav tau txoj kev hloov MTHFR hloov?

Koj tuaj yeem xav tau qhov kev ntsuas no yog tias:

  • Koj tau kuaj ntshav uas pom tias muaj ntau dua li ib homocysteine
  • Ib tus neeg txheeb ze tau txheeb xyuas tau nrog kev hloov MTHFR
  • Koj thiab / lossis cov neeg nyob ze hauv koj tsev neeg muaj keeb kwm txog kab mob plawv ntxov lossis ntshav tsis zoo

Koj tus menyuam tshiab tuaj yeem kuaj MTHFR ua ib feem ntawm kev soj ntsuam menyuam mos ib txwm muaj. Kev kuaj xyuas cov menyuam mos yog txoj kev kuaj ntshav yoojyim uas yog kuaj xyuas ntau yam kabmob hnyav.


Yuav muaj dab tsi tshwm sim thaum MTHFR hloov kev pauv?

Tus kws kho mob yuav kuaj ntshav ntawm txoj hlab ntshav hauv koj txhais caj npab, siv rab koob me me. Tom qab cov koob raug tso nkag, cov ntshav me me yuav raug sau rau hauv lub khob kuaj lossis vial. Koj tuaj yeem hnov ​​me ntsis thaum cov koob nkag mus lossis tawm. Qhov no feem ntau yuav siv sijhawm tsawg dua tsib feeb.

Kev kuaj menyuam mos, tus kws saib xyuas kev noj qab haus huv yuav ntxuav koj tus menyuam pob taws nrog cawv thiab nchuav caj dab nrog rab koob me me. Nws yuav khaws ob peb ncos roj ntshav thiab muab ntaub qhwv rau ntawm qhov chaw.

Kev ntsuam xyuas yog feem ntau ua thaum tus menyuam muaj 1 txog 2 hnub, feem ntau nyob hauv tsev kho mob uas nws yug. Yog tias koj tus menyuam tsis tau yug los hauv tsev khomob lossis yog koj tau tawm tsev khomob uantej tus menyuam yuav raug sim, nrog koj tus kws khomob tham txog sijhawm teem sijhawm kom sai li sai tau.

Kuv puas yuav tau ua ib yam dab tsi txhawm rau npaj rau qhov kev xeem?

Koj tsis tas yuav muaj kev npaj tshwj xeeb rau MTHFR kev hloov mus kuaj.

Puas muaj kev pheej hmoo rau kev kuaj?

Nws muaj feem yuav muaj feem ntau tsawg rau koj lossis koj tus menyuam uas kuaj MTHFR. Koj yuav muaj mob me lossis doog ntshav ntawm qhov chaw tso rab koob, tab sis feem ntau cov tsos mob ploj mus sai.

Koj tus menyuam tuaj yeem hnov ​​me ntsis thaum lub pob taws los, thiab ua pob me me rau ntawm thaj chaw. Qhov no yuav tsum ploj mus sai heev.

Cov txiaj ntsig li cas?

Koj cov txiaj ntsig yuav qhia seb koj puas muaj qhov zoo lossis qhov tsis zoo rau kev hloov MTHFR. Yog tias muaj txiaj ntsig zoo, qhov tshwm sim yuav qhia pom qhov twg ntawm ob kev sib hloov uas koj muaj, thiab seb koj puas muaj ib lossis ob daim ntawv theej ntawm cov noob hloov. Yog tias koj cov txiaj ntsig tsis zoo, tab sis koj muaj homocysteine ​​siab heev, koj tus kws kho mob yuav xaj kuaj ntxiv kom paub qhov ua rau.

Txawm hais tias yog vim li cas rau homocysteine ​​ntau ntau, koj tus kws kho mob yuav qhia kom noj folic acid thiab / lossis lwm yam tshuaj vitamin B ntxiv, thiab / lossis hloov koj li kev noj haus. Cov vitamins B tuaj yeem pab coj koj cov qib homocysteine ​​rov qab zoo li qub.

Yog koj muaj lus nug txog koj cov txiaj ntsig, nrog koj tus kws kho mob tham.

Kawm paub ntau ntxiv txog cov kev sim hauv chaw soj ntsuam, cov chaw siv ntsuas, thiab nkag siab cov txiaj ntsig tau.

Puas muaj lwm yam ntxiv uas kuv xav paub txog MTHFR hloov mus kuaj?

Qee tus kws saib xyuas kev noj qab haus huv xaiv xaiv tsuas yog sim seb homocysteine ​​qib siab dua li sim ntsuas MTHFR cov noob ntsuas. Qhov ntawd vim hais tias kev kho mob feem ntau zoo ib yam, txawm hais tias muaj ntau homocysteine ​​ntau ntau tshwm sim los ntawm kev hloov pauv.

Ua tim khawv

  1. Cleveland Clinic [Hauv Is Taws Nem]. Cleveland (OH): Cleveland Clinic; c2018. Kev kuaj ntsuas keeb kwm koj tsis tas yuav muaj; 2013 Sep 27 [raug nplua 2018 Aug 18]; [txog 4 ntxaij]. Muaj los ntawm: https://health.clevelandclinic.org/a-genetic-test-you-dont-need
  2. Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Kev kuaj menyuam mos rau homocystinurias thiab methylation ntshawv siab: kev tshuaj xyuas kom nruj thiab cov lus qhia. J Inherit Metab Dis [Internet]. 2015 Nov [suav 2018 Aug 18]; 38 (6): 1007–1019. Muaj los ntawm: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
  3. Kev Noj Qab Haus Huv Menyuam Yaus los ntawm Nemours [Is Taws Nem]. Cov Nyiaj Nemours; c1995–2018. Kev Kuaj Menyuam Mos; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://kidshealth.org/en/parents/newborn-saib-taw.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
  4. Kev Tshuaj Ntsuam Xyuas online [Internet]. Washington D.C .: Koom Haum Asmeskas Rau Chaw Kuaj Mob; c2001–2018. Homocysteine; [kho tshiab 2018 Mar 15; hais 2018 Aug 18]; [txog 2 ntxaij]. Muaj los ntawm: https://labtestsonline.org/tests/homocysteine
  5. Kev Tshuaj Ntsuam Xyuas online [Internet]. Washington D.C .; Cov Koom Haum Asmeskas rau Chaw Kho Mob Soj Ntsuam; c2001–2018. MTHFR Kev Sib Hloov; [hloov tshiab 2017 Nov 5; hais 2018 Aug 18]; [txog 2 ntxaij]. Muaj los ntawm: https://labtestsonline.org/tests/mthfr-mutation
  6. Lub Peb Hlis Dimes [Is Taws Nem]. Tiaj Dawb (NY): Lub Peb Hlis Ntuj Tim; c2018. Kev Kuaj Menyuam Mos Rau Koj Cov Menyuam; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.marchofdimes.org/baby/newborn-vaj-vaj-for-your-baby.aspx
  7. Mayo Clinic: Mayo Medical Laboratories [Is Taws Nem]. Mayo Foundation for Medical Education thiab Tshawb Fawb; c1995–2018. Xeem ID: MTHFR: 5,10-Methylenetetrahydrofolate Txo C677T, Sib Koom Tes, Ntshav: Kev Ntsuam Xyuas thiab Txhais; [hais 2018 2018 18; [txog 4 ntxaij]. Muaj los ntawm: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
  8. Merck Los Ntawm Cov Neeg Siv Khoom Siv [Internet]. Kenilworth (NJ): Merck & Co. Inc .; c2018. Homocystinuria; [hais 2018 2018 18; [txog 2 ntxaij]. Muaj los ntawm: https://www.merckmanuals.com/home/children-s- health-issues/hereditary-metabolic-disorders/homocystinuria
  9. National Cancer Institute [Internet]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; NCI Lus Txhais ntawm Cancer Cov Lus Cog Tseg: noob; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  10. Lub Chaw hauv National rau Advancing Translational Sciences: Caj Xov Xwm Genetic thiab Tsis tshua Muaj [Kab Tshab]. Gaithersburg (MD): Lub Tsev Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; Homocystinuria vim MTHFR tsis muaj peev xwm; [hais 2018 2018 18; [txog 2 ntxaij]. Muaj los ntawm: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
  11. National Center for Advancing Translational Sciences: Neeg Keeb Kwm thiab Cov Ntaub Ntawv Kab Mob Tsis Muaj Tseeb [Is Taws Nem]. Gaithersburg (MD): Lub Tsev Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; MTHFR noob hloov pauv; [hais 2018 2018 18; [txog 2 ntxaij]. Muaj los ntawm: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
  12. NIH Lub Tebchaws Asmeskas Cov Tsev Kuaj Tshuaj (Genetics) Hauv Tsev [Hauv Is Taws Nem]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; MTHFR noob; 2018 Lub Yim Hli 14 [muab los ntawm 2018 Aug 18]; [txog 3 ntxaij]. Muaj los ntawm: https://ghr.nlm.nih.gov/gene/MTHFR
  13. NIH Lub Tebchaws Asmeskas Cov Tsev Kuaj Tshuaj (Genetics) Hauv Tsev [Hauv Is Taws Nem]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; Lub cev hloov pauv tau zoo li cas thiab kev hloov pauv muaj li cas ?; 2018 Lub Yim Hli 14 [muab los ntawm 2018 Aug 18]; [txog 3 ntxaij]. Muaj los ntawm: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
  14. Teb Chaws Lub Plawv, Lub Ntsws, thiab Koom Haum Ntshav [Internet]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; Kuaj ntshav; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.nhlbi.nih.gov/health-topics/blood-tests
  15. Kev Tshawb Nrhiav Yeeb Yam [Internet]. Kev Tshawb Nrhiav Yeeb Yam; c2000–2017. Lub Chaw Kuaj: Methylenetetrahydrofolate Reductase (MTHFR), Kev Tshawb Nrhiav Ntsuam Xyuas DNA; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=17911&searchString=MTHFR
  16. Varga EA, Sturm AC, Misita CP, thiab Moll S. Homocysteine ​​thiab MTHFR Kev Sib Koom Tes: Kev Txheeb Ze rau Mob Nqa Hlav thiab Mob Hlav Kev ncig ua si [Internet]. 2005 Tsib Hli 17 [hais 2018 2018 18]; 111 (19): e289–93. Muaj los ntawm: https://www.ahajournals.org/doi/full/10.1161/01.CI

Cov ntaub ntawv ntawm lub xaib no yuav tsum tsis txhob siv los hloov chaw kho mob lossis tswv yim kho mob. Hu rau kws kho mob yog tias koj muaj lus nug txog koj txoj kev noj qab haus huv.

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