I thisena thisen sen (red blood cells) chungchang hi i hria a. A tlangpuiin a zungpui, a hmin thei, rubber ball te tak te ang mai an ni. Hei hian i taksa chhunga thisen kalna kawng te tak te kal tlangin awlsam takin a kal thei a, i taksa peng zawng zawngah oxygen a phur thei bawk. Mahse mi thenkhatah chuan heng thisen sen (red blood cells) te hi sickle ang (C-shaped) angin an lo chang a, an khauh a, an sticky bawk. Hei hi sickle cell disease (SCD) kan tih chu a ni. Hei hi rochun natna a ni lo va, genetic condition a ni zawk.
Sickle cell disease (SCD) hi eng nge ni tak tak?
A awlsam zawngin sawi ila, sickle cell natna hi genetic natna a ni a, kan thisen sen (red blood cells) te a nghawng a ni. Heng thisen sen chhungah hian protein pakhat hemoglobin tih a awm a . A hna ber chu lung atanga oxygen lakkhawm a, taksa pum puia sem darh hi a ni. Mi hrisel chuan hemoglobin molecule hi a zungbun a, a hrual (smooth) a ni. Chuvang chuan thisen sen (red blood cells) te hi mawi takin an zungbun a ni.
Mahse sickle cell natna vei pakhatah chuan genetic defect vangin he hemoglobin molecule pianzia hi a danglam thin. He hemoglobin pangngai lo avang hian thisen sen chu sickle ang maiin a lo nghet a, a sticky bawk. Ngaihtuah teh, thisen khauh tak, sickle ang maia siam chu tube te tak te hmanga thawn chhuah i tum a, chu chu ball zungbun kal tlanga kal ai chuan eng nge thleng ang? An inzawm khawm ang a, tube chhungah an inkhung khawm ang a ni lawm ni? Chutiang bawkin heng sickle ang maia siam cell te hi kan thisen kalna kawng te tak teah an tang a, thisen kal dan a tikhawlo a ni. Hei hian harsatna hrang hrang a thlen a , natna nasa tak leh thisen tlakchhamna te a thlen thin .
He natna lan chhuah dan tlangpui engte nge ni?
Sickle cell natna vei nausen piangte hian thla 5 vel atanga an lan chhuah tan tlangpui. Heng symptoms te hi mi hrang hrangah a inang lo thei. Hun kal zelah pawh an danglam thei bawk.
| Symptom a ni | A sawifiahna awlsam tak |
|---|---|
| Thisen tlakchhamna (Anaemia). | Sickle cells hi a chhe thei hle. Thisen sen pangngai chu ni 120 vel dam mah se, heng cell te hi ni 10-20 chhungin an thi a ni. Hei hian taksaah thisen sen (red blood cells) a tlakchham phah a, chu chuan chau leh chau takin a awm reng thin. |
| Pain Crises a awm thin | Hei hi he natna lanchhuahna ber leh na ber a ni. Sickle cells te an lo pungkhawm a, rilru, pum, ke leh ruh chhunga thisen kalna kawng nalh tak takte chu an tihkhawtlai chuan tuar theih loh khawpin natna a thlen thin. Hetiang natna hi a nasat chuan damdawi inah dah a ngai mai thei a, ETU (Emergency Treatment Unit) ah kal a ngai mai thei. |
| Kut leh ke a hring chhuak | Kut leh kea thisen petu thisen kalna kawng nalh tak takte chu a inkhar chuan chu hmunte chu a lo hring tan ta a ni. |
| Hri kai fo thin | Heng sickle cells te hian a chang chuan organ te chu spleen ang chi te hi a tichhe thin. Kan taksa invenna kawngah hian kan taksa peng pawimawh tak a ni. A chhiat chuan natna hrik kai theihna a sang hle. |
| Mit leh vun a sen (yellowing) thin | Sickle cell chhia tam tak a chhiat chuan mit vun leh var te chu a sen (jaundice ang chi) a lo ni thei. |
| Mit lama harsatna nei | Heng cell te hi mit hnena thisen petu thisen kalna kawng hrang hrangah an block a nih chuan mit retina a chhiat phah thei a, mit hmuhna lama harsatna a awm thei bawk. |
| Growth tihkhawtlai a ni | Hetiang natna nei naupangte hi naupang dang aiin an lo thang zawi zawk thei a, puitlin hun pawh a tlai thei bawk. |
Engvangin nge he natna hi a lo awm? Tu nge hlauhawm ber?
He natna thlentu ber chu genetic defect a ni. Kan chromosome 11-a gene (hemoglobin-beta gene) chhiatna avanga lo awm a ni a, chu chu hemoglobin siam chhuahnaah a inrawlh a ni.
A pawimawh ber chu naupangin he natna hi a neih theih nan chuan he gene chhia hi an nu leh pa hnen atangin an rochun a ngai a ni.
Nu leh pa pahnih hi he gene chhia hi kengtu an nih a, chu chu natna nei lo mahse an taksaah natna thlentu gene nei an nih chuan an fa chu natna neia piang theihna chance 4 zinga 1 (25%) a ni.
Nu leh pa pakhat chauhvin gene an rochun chuan naupang chu natna phurtu a lo ni ta a ni. A tlangpuiin symptom an nei lo a, mahse an fate hnenah gene hi an pe chhuak thei a ni.
Khawvel pumah he natna hi African, Middle Eastern, Southern Europe, leh Asian Indian hnam chhuak zingah a tam ber a ni.
Engtin nge natna hi kan hriat theih ang? (Diagnosis) tih a ni.
Hei hi hriat theih dan awlsam tak a awm. Thisen test awlsam tak hmangin he hemoglobin chi chhia hi a awm tih hriat theih a ni. Ram tam takah chuan nausen piang thar apiang chu hei hi test vek an ni.
Nangmah emaw i fa emaw hian he natna hi i vei tih hmuhchhuah a nih chuan i doctor chuan test dang neih belh (stroke hlauhawmna enfiah nan special scan ang chi) a rawt thei ang. Tin, genetic condition a nih avangin genetic counselor hnenah pawh refer i ni thei bawk.
Nangmah emaw, i kawppui emaw chuan sickle cell natna i neih emaw, carrier emaw i nih chuan i naupai laiin i naute amniotic fluid test tir la, natna an vei em tih i enfiah thei bawk. I doctor hnenah thu belhchian dawl zawk zawt rawh.
Enkawlnate chu engte nge ni?
Sickle cell natna enkawlna atana thil tum lian pathum a awm a, chungte chu:
- Pain crisis venna
- Symptoms control leh relief pek
- Harsatna dang awm thei tur venna
Hemi atan hian enkawlna chi hrang hrang a awm a.
Damdawi chi hrang hrang
- Hydroxyurea: He damdawi hi nitin ei hian attack tamna a tiziaawm thei a, thisen tlakchhamna leh natna hrik kai ang chi harsatna a tiziaawm thei bawk. Nu naupai chuan he damdawi hi ei loh tur a ni.
- Painkillers: Pain attack a awm chuan doctor-in a pek painkillers hian a natna chu a thunun thei a ni.
- Damdawi dang: Damdawi `Crizanlizumab` (injection pakhat) leh `L-glutamine` (a powder) te chu tunah chuan natna tihziaawmna atan hman a ni a, thisen tlakchhamna damdawi `Voxelotor` ang chi te pawh hman a ni bawk.
Enkawlna dang
- Thisen pek: Thisen hrisel pek hian thisen tlakchhamna leh paralysis ang chi harsatna a veng thei a ni.
- Stem Cell Transplant: Hei hi ruhro (bone marrow transplant) a ni. Naupang leh puitling tleirawl thenkhat chuan hei hmang hian natna atanga dam kim theihna an nei a ni. Mahse, hei atan hian donor inmil tak (a tlangpuiin a chhungte hnai tak) zawn a ngai a ni.
Enkawl dan thar ber: Gene Therapy
Damdawi lam thiamna a lo thang chho zel a, tunah hian he natna enkawlna hlawhtling tak tak leh beisei awm tak tak a lo chhuak ta a ni. `Casgevy` leh `Lyfgenia` te hi chutiang gene therapies thar ber pahnih an ni. A awlsam zawngin sawi ila, heng hmanrua te hian damlo ruhro atanga lak chhuah stem cells te, `CRISPR` ang chi genetic technology hmanga ‘edited’ te hmangin , chu chu a chhiatna chu siamthat a, thisen sen hring siamtu cell hrisel takah a chantir a, chu chu taksaah dah leh a ni. Hei hi enkawlna changkang tak a ni a, natna tidam thei a ni.
Sickle cell natna leh malaria inzawmna hi eng nge ni?
Hei hi thawnthu mak tak mai a ni. Malaria hi natna khirh tak, thosi atanga kai theih a ni. Scientist-te chuan sickle cell gene hi malaria laka mihringte venhimna atana lo piang chhuak niin an ngai. Engtin nge chu chu a theih ang? Sickle cell natna (natna ni lo, gene chauh) kengtu mi pakhatin malaria a vei chuan a na lo zawk. Hei hi a chhan chu sickle ang maia thisen sen (red blood cells) hian malaria parasite hi taksa chhungah a thang tha lo thei lo a ni. Hei vang hian he gene nei mite hi malaria natna vei tamna hmun, Africa ramah te an dam khawchhuak a ni.
Take-Home Thuchah a ni
- Sickle cell natna hi natna hrik kai theih a ni lo va, nu leh pate hnen atanga rochun genetic natna a ni.
- Heta buaina ber chu thisen zam (red blood cells) pianzia a inthlak a, thisen kalna kawng (blood vessels)-ah a inkharkhip thin hi a ni.
- Natna nasa tak, hah fo (anemia), leh natna hrik kai te hi a lan chhuahna ber a ni.
- Damdawi inenkawlna leh thurawn dik tak zawm chuan i natna lan chhuah dante i thunun thei a, nun pangngaiin i nung thei bawk. Doctor nena inbiak reng a pawimawh hle.
- Tunlai damdawi, gene therapy ang chite avang hian tunah chuan he natna hi beiseina tha tak a awm ta a ni.
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