Fanconi Anemia chu eng nge ni? He dinhmun rare tak hi thumal awlsam takin han sawi ila!

I fa chu a chau reng em? A hmasawnnaah rinhlelhna i nei em? A nih loh leh, a chang chuan cut tlemte pawh thisen chhuah a reh theih nan hun rei tak a ngai em? Nu emaw pa emaw hian hetiang thil an hmuh hian hlauhna an nei hi thil pangngai tak a ni. Vawiin hian kan sawi dawn a, mi tam takin an la hriat ngai loh, mahse hriat a pawimawh hle. Chu chu Fanconi Anemia (FA) a ni. A hming hi a mak deuhin a lang thei a, mahse, a awlsam zawngin, i hriatthiam theih angin sawi ila.

A awlsam zawngin Fanconi anemia (FA) hi eng nge ni?

Fanconi anemia, a tawi zawngin FA hi rochun natna hmuh tur awm lo tak a ni . I ruhro a nghawng ber a ni . Tunah chuan he ruhro hi eng nge a nih tih i ngaihtuah mai thei.

Ruhro hi kan taksa ruh lian tak tak chhunga sponge ang maia awm angin han ngaihtuah teh. Kan taksa thisen siamna factory ang mai a ni. He factory hian kan taksa mamawh cell chi thum a siam a, chungte chu:

• Red blood cells: Taksa pum puia oxygen phurtu hnathawkte an ni.
• White blood cells: Kan taksa sipai, natna leh hrik dotu.
• Platelets: Hliam a awm chuan thisen chhuah titawp leh thisen tikhawlo thei hnathawk te te.

Tunah chuan FA vei miah chuan ruhro, factory-in hna a thawk tha lo. Chumi awmzia chu thisen hrisel tha tawk a siam thei lo tihna a ni. Hei hi bone marrow failure kan ti a . Hei hian taksaah harsatna tam tak a thlen thei a ni. Tin, he natna hian taksa peng dang leh taksa lan dan a nghawng thei bawk.

FA hian engtin nge ka taksa emaw, ka fa taksa emaw a nghawng?

FA hian mi tin a nghawng dan hi a inang lo thei a, mahse a tlangpuiin kawng pawimawh pathum a nghawng thei a ni.

1. Taksa lama harsatna: FA vei naupang piang zinga 75% vel chuan taksa lama harsatna eng emaw zat an nei a. Chung zinga ṭhenkhat chu hmuh theih a ni thei (entir nan, kut leh kut zungtang inthlak danglamna), thenkhat erawh chu chhungril taksa peng hrang hrang a inzawm thei thung.

2. Bone Marrow Failure: Hetiang natna hi FA vei zinga 90% vel ah a awm thin. Chumi awmzia chu bone marrow hian thisen cell hrisel siam chhuah zawi zawiin a titawp tihna a ni. Hei hian thisen tlakchhamna (anemia condition) aplastic anemia leh myelodysplastic syndrome (MDS) tih ang chi natna a thlen thei a ni. MDS hi pre-leukemia anga ngaih a ni bawk.

3. Cancer hlauhawmna a sang:FA vei te hi mipui zawng zawng aiin cancer chi thenkhat an vei theihna a sang zawk. A bik takin thisen cancer, leukemia leh lu, kawr leh vun cancer te vei an hlauhawm hle. Heng zinga 10% leh 30% inkar hian cancer chi khat emaw an vei dawn a ni.

Chuti a nih chuan FA hi cancer a ni em?

Hei hi mi tam takin harsatna an neih a ni. Ni lo, FA hi cancer a ni lo. Mahse, genetic disease a nih avangin taksain cell chhia a siam that theihna chu a tlahniam a ni. Chuvangin, hun kal zelah heng cell chhia te hi cancer an nih theihna chance a sang zawk a ni . A awlsam zawngin FA hi cancer tan kawng hawnsak thei dinhmun a ni a, mahse cancer tak tak erawh a ni lo.

FA natna lan chhuah dan chu engte nge ni?

FA hian mi hrang hrang a nghawng dan a inang lo avangin a natna lan chhuah dan pawh a inang lo thei hle. Mi thenkhat chu kum tam tak chhung chu natna lanchhuahna langsar tak nei lovin an kal thei. Heng symptoms te hi chi hrang hrangah then ila.

Engvangin nge hetiang FA dinhmun hi a lo awm?

Hei hi kan genes a chhiatna avanga lo awm a ni . Kan taksa siamna tur blueprint angin genes hi han ngaihtuah teh. FA-ah hian gene 20 vel a inrawlh a ni. Heng genes te hnathawh ber chu kan DNA chhiatna siamthat hi a ni .

Kan dam chhung zawng hian kan chhehvela thil awmte leh kan ei leh in avang hian kan taksa cell chhunga DNA chu a chhe deuh deuh thin. Chu chu thil pangngai a ni. FA genes siam protein te hian repair team angin hna an thawk a, he DNA chhia hi an siam tha thin.

Mahse, FA vei chuan heng genes-ah hian mutation a neih avangin repair team te hian hna an thawk tha lo hle. Chuti a nih chuan eng nge thleng?

• DNA chhiatna a pungkhawm zel a.
• Hei hian cell te chu a pangngai lo takin a inthen tan thin (chu chuan cancer a thlen thei) emaw, cell te chu a thi thei a ni.
• Cell te an thih chuan ruhro a chak lo va, taksa a inthlak danglam thin.

Hei hi nu leh pa atanga fate rochun thil a ni. Nu leh pa pahnih hi he gene chhia hi kengtu an nih chuan an fain FA a vei theihna chance 25% a awm a ni.

Engtin nge doctor-te hian FA hi an hriat chhuah?

FA hi enkawlna emaw, natna dang (anemia emaw cancer emaw ang chi) test-naah hmuhchhuah a ni fo thin. I doctor chuan i emaw i fa emaw symptoms chu uluk takin a enfiah ang a, FA rinhlelh a nih chuan test eng emaw zat neih a rawt ang.

Test tih tlangpui: 1.1.

• Complete Blood Count (CBC): Hei hian thisen chhunga red cell, white cell leh platelet awm zat a tehna a ni. Heng zingah hian level hniam tak tak a awm leh awm loh a check thei.
• Bone Marrow Biopsy: Bone marrow sample te tak te lak a ni a, microscope hmangin an enfiah a, cell te hi engtin nge an lo awm tih leh eng harsatna nge an neih tih an enfiah thin.
• MRI leh Ultrasound Scan: Heng test te hian taksa chhunga taksa peng hrang hrang (kidney leh heart ang chi) ah danglamna a awm em tih hriat nan a pui thin.

FA finfiahna atana test bik:

• Chromosome Breakage Test: Hei hi FA hriat theihna atana hman ber a ni. He test-ah hian thisen sample-a cell-ah chemical dahin, chromosome-te chu a chhiat leh chhe loh enfiah a ni. FA vei cell-a chromosomes te hi mi pangngai aiin a chhe rang zawk hle.
• Genetic Screening: He test hian FA thlentu genetic defect bik chu a hriat theih a ni.

Naupai lai hian test ka nei thei ang em?

Awle. I chhungkuaa mi pakhatin FA a neih chuan i naute chu naupai laiin he natna hi test theih a ni. Hei hi amniocentesis emaw chorionic villus sampling ang chi test hmanga tih theih a ni . Hemi chungchang hi i doctor nen inbiakna neihpui la, a chipchiar zawkin i hre thei ang.

FA enkawlna tur engte nge ni?

FA enkawl lai hian doctor-te thil tum ber chu symptoms control leh complication enkawl hi a ni.

• Bone Marrow Transplant: Hei hi FA vanga thisen lama harsatna awmte tihdamna awmchhun a ni. Hetah hian damlo ruhro chhia chu tihchhiat a ni a, donor hrisel, inmil tak atanga ruhro chu damlo hnenah pek kir leh a ni.
• Androgen Therapy: Hengte hi hormone chi khat a ni. Heng damdawi te hian ruhro a tichak a, thisen sen leh platelet siam chhuahna tipung turin a pui a ni.
• Synthetic Growth Factors: Hengte hi injection anga pek a ni a, ruhro atanga thisen var leh thisen sen siam chhuahna tipung turin a pui a ni.
• Surgery: Taksa inthlak danglamna siamthat nan (entir nan, ke ruh lian lama harsatna awm) emaw, taksa peng chhia siamthat nan emaw operation neih a ngai mai thei.

FA nena khawsak leh fimkhur tur thil

FA hi dam chhung zawnga enkawl ngai a nih avangin i hriselna enfiah reng a pawimawh.

• Cancer hlauhawmna: FA hian cancer hlauhawmna a tihpun avangin meizuk leh zu in hi pumpelh vek tur a ni . Tin, vun cancer hlauhawmna a san avangin, ni chhuahna hmuna chhuah hunahSunscreen tha tak hmang leh lukhum bun hmangin i vun i humhim tur a ni. I vunah hmun thar leh bumps awmte chu fimkhur rawh.
• Thisen chhuah: Infiamna leh infiamna, platelet count tlem avanga hliam thlen thei thil tih loh tur. Ha i sil dawnin toothbrush nem tak hmang thin ang che. Thisen chhuak emaw, hliam emaw i neih chuan doctor hnenah hriattir nghal rawh.
• Medical checkup neih fo: Doctor-in a tih angin checkup neih fo tur . Thisen test leh cancer screening a hun taka tih a pawimawh hle.

Bone marrow transplant hlawhtling tak ka neih hnuah pawh heng thilte hi ka la ngaihtuah reng a ngai em?

Ni e, a dik tak zet. Bone marrow transplant hian FA vanga thisen natna a tidam thei a, mahse FA genetic defect hi taksa cell dangteah a la awm reng a ni. Chuvangin, lu, kawr leh vun ang chi hmunah te cancer vei theihna a la awm reng a ni. Chuvangin, transplant hnuah pawh dam chhung zawng doctor enkawlna hnuaia awm hi a pawimawh hle.