Genetic disorder chungchang chiang takin i zir ang u

Kan nu leh pate hnen atangin thil kan rochun vek a ni lawm ni? Thil chi hrang hrang vun rawng, sam texture, mit rawng te. Hengte hi kan nu leh pate gene atanga kan hmuhte a ni. Mahse heng thil \ha rual hian natna \henkhat chu kan thlahte a\angin kan rochun theih bawk. Chutiang natna genes hmanga lo thleng chu ‘Genetic Disorders’ kan ti mai a ni. Hemi chungchang hi hriat a pawimawh hle a, a chhan chu keimahni leh kan fate hmalam hun tur chungchangah thutlukna siam turin min pui dawn a ni.

Genetic disorder chu eng nge ni tak tak?

Hei hi hrethiam tur chuan genes leh DNA chungchang tlem han sawi hmasa ila. Kan taksa hi building lian tak a ni tih han ngaihtuah teh. Chu building sakna tur blueprint kimchang tak a awm a, lehkhabu lian tak, a chipchiar zawng zawng pawh huam vek a ni. Chutiang bawkin kan taksaa cell tin chhungah hian chu cell hnathawh dan tur te, kan hmel lan dan te, leh kan mizia zawng zawngte hriat theihna tur thupek hrang hrang a awm a. He thupek set hi DNA (Deoxyribonucleic acid) kan tih hi a ni.

He DNA chain sei tak atanga thupek bik pe thinte hi ‘genes’ kan ti thin. Entirnan, i mit rawng tichiangtu gene, i sam rawng hriltu gene, etc. a awm a.

Tunah chuan, heng gene-a thupekte hi a danglam emaw, a chhiat emaw, a dik lo emaw a awm chuan eng nge thleng ang? Tichuan taksa hnathawh dan pangngai a nghawng a ni. Chutiang gene a inthlak danglamna hlauhawm tak chu mutation an ti a . Chutiang mutation emaw, kan genes awmna structure (chromosomes) lian tham inthlak danglamna avanga natna lo awm chu ‘genetic diseases’ kan ti thin.

Genetic natna chi hrang hrangte chu engte nge ni?

Genetic diseases hi chi thum ah then theih a ni. Heng classification te hi an lo awm dan a zirin an siam a ni.

Genetic diseases awm tam ber chu engte nge ni?

Genetic natna sang tam tak a awm a. Ṭhenkhat chu an tam hle a, ṭhenkhat chu an tlem hle. A hmaa kan sawi tawh chi thum-a tla natna tlanglawn deuh thenkhat han thlir ila.

Genetic diseases awm chhante chu engte nge ni?

Kan sawi tawh ang khan a chhan ber chu genes-a mutation a ni. Hei hi tlem tal i hrethiam zawk ang u.

Kan genes te hi kan taksa mamawh protein siamna atana instruction set ang mai a ni. Heng protein te hian kan taksaa thil thleng zawng zawng deuhthaw hi an control vek a ni. Gene pakhatin mutation a neih chuan heng instruction te hi a kal sual thin. Tichuan thil pahnih a thleng thei a:

1. Either protein mamawh chu siam chhuah a ni lo tak tak.

2. A nih loh leh protein siam chhuahah hian chhiatna a awm a, chuvangin an thawk tha lo.

Heng thil pahnihte hian taksa kalphung pangngai a tibuai a, natna a thlen bawk. Mutations thenkhat chu thlah khat atanga thlah khata rochun a ni. Mahse a chang chuan chhungkaw history engmah nei lovin mi pakhatin a dam chhungin gene mutation thar a nei thei a ni. Hei hi environment factor (mutagens) engemaw zat a awm a, hei hian a nghawng a ni.

• Chemical nena inzawmna: Pesticide thenkhat leh factory atanga chemical chhuak ang chi thil.
• Radiation laka invenna: X-ray ang chi radiation laka invenna tam lutuk.
• Meizial zuk: Zuk leh hmuam chhunga chemical awmte hian DNA a tichhe thei a ni.
• Ni atanga ultraviolet rays hlauhawm (UV exposure): Hengte hian vun cancer ang chi natna a thlen thei.

Heng natna lanchhuahna te hi eng nge ni?

Genetic disease symptoms hi a inang lo hle. Eng gene nge a nghawng, taksa peng eng nge a nghawng tih leh natna nasat danah a innghat a ni. Simptom thenkhat chu pian tirh atangin hmuh theih a ni. Mi dangte chu naupan lai te, tleirawl lai te, a nih loh leh puitling lai te pawhin an lo lang thei a.

Hengte hi a lan chhuah dan tlangpui thenkhat chu an ni:

• Nungchang inthlak danglamna emaw harsatna emaw.
• Thâwk harsa.
• Cognitive deficits, thluak in information dik taka a process theih lohna ang chi te.
• Hmasawnna lama harsatna, tawngkam tihkhawtlai emaw, khawtlang nun thiamna emaw.
• Chaw ei harsat emaw, nutrients tha taka lakluh theih lohna emaw.
• Ke leh ke ruh emaw hmai emawa thil dik lo awm thei, kut zungtang awm lo emaw, hmui leh hmui hrual emaw te.
• Muscle stiffness emaw chak lohna emaw avanga che harsa.
• Neurological problems, seizures emaw stroke emaw a awm thei.
• Taksa thanna tlahniam emaw, a sei tawi emaw.
• Mit emaw hriatna lama harsatna nei.

Engtin nge genetic disease i neih leh neih loh i hriat theih ang?

I chhungkuaa mi pakhatin genetic disease a neih a, i vei nia i rinhlelh chuan doctor pan a, genetic counseling lak a tha ber . Genetic testing hian natna pakhat nena inzawm genetic mutation i neih leh neih loh a finfiah fo thin.

Chhungkaw din mek emaw, nu naupai emaw pawhin test engemaw zat a nei thei.

Carrier testing neih a ni

Hei hi thisen test a ni. Nangmah emaw i kawppui emaw hian genetic disease atana gene chhia i keng em tih a hriat theih a, symptoms engmah lantir lovin (are carrier) a ni. He test hi fa neih tum tan chuan duhthlan tur tha tak a ni a, chhungkaw history-a natna vei lo pawh nise.

Nau neih hmaa screening neih a ni

He test hian nu naupai atanga thisen lak lak enfiahna hmangin nausen pum chhunga nausen pakhatin Down syndrome ang chi chromosomal disorder pangngai a neih theihna tur a hriat theih a ni.

Nau neih hmaa diagnostic test neih a ni

Hei hian naute hian genetic disease a nei em tih chiang zawka hriat theih nan a pui thei a ni. Chumi atan chuan amniotic fluid tlemte lak a ni a, test a ni. He test hi amniocentesis an ti a .

Nau piang thar screening neih a ni

He test hi naute piang thar apiang kekawr atanga thisen sample te tak te lak atanga tih a ni. Sri Lanka rama damdawi inah pawh tih dan pangngaiin an ti thin. Hei hian enkawl theih genetic disease thenkhat chu a hmaa hriat theihna a siam a, naupang chu a rang thei ang bera enkawlna mamawh a dawng thei bawk.

Genetic diseases enkawlna tur engte nge ni?

Hei hi kan hriat duh zawng zawng a ni. Mahse thudik tak chu genetic natna tam zawk hi chu tihdam kim theih a ni lo. Mahse, lungngai suh. Natna hi tihdam kim theih a nih loh laiin, natna lan chhuah dan thunun thei, natna zual zel tur venna leh nun awlsam zawka enkawl thei tur enkawlna tam tak a awm.

I mamawh enkawlna chi chu i natna chi hrang hrang leh a nasat danah a innghat ang.

• Chemotherapy hmanga enkawlna, natna lan chhuah dan tihtlem nan emaw, cancer ang chi dinhmuna cell than dan pangngai lo control nan emaw damdawi te .
• I taksain a mamawh ei leh in a hmuh theih nan nutritional counseling emaw dietary supplement emaw pek a ni.
• Thiamna ṭha ber neih reng theih nân taksa lam enkawlna, hnathawhna lama enkawlna emaw, thusawi hmanga enkawlna emaw a ngai mai thei.
• Thisen cell hrisel level siam that leh nan thisen pek .
• Structure dik lo siamthat emaw, complication enkawl emaw tur surgery .
• Cancer enkawlna atana radiation therapy ang chi enkawlna bik.
• Organ transplant : Organ tha lo tak chu a hrisel zawka thlak.

Hetiang natna vei mi tan chuan hmalam hun chu eng ang nge ni ang?

He zawhna hi chhanna pakhat chauh pek a harsa a, a chhan chu natna hrang hrangah a inang lo hle a ni. Naupang pianpui natna tlemte leh na tak tak, anencephaly ang chi nei chu ni tlemte chauh a dam thei.

Mahse isolated cleft lip ang chi condition hian dam rei zawng a nghawng lo. Mahse, nun pangngaia an awm theih nan specialist medical treatment leh care mumal tak an la mamawh mai thei. A pawimawh ber chu, damdawi lam thurawn leh enkawl dan dik tak nen, thlahtu natna vei tam tak chuan awmze nei tak, nun tha tak an nei thei a ni.

Genetic disease hi ven theih a ni em?

Genetic natna laka invenna tur thil kan tih hi a tlem hle a, a chhan chu kan DNA-ah a awm a ni. Mahse, genetic counseling leh testing hmangin i risk chu i hre thei a ni. I fate’n natna ṭhenkhat an rochun theihna chance chu i hre thei bawk. He hriatna hian thu tlûkna pawimawh tak tak siam tûrin a ṭanpui thei che a, chu chu chhûngkaw ruahmanna siam ang chite hi a ni.