I thisen sen (red blood cells) te pawh hi ‘spherical’ an ni em? Hereditary spherocytosis chungchang hi han sawi ila!

A chang chuan kan taksa chhungah thil a thleng thin a, kan hriat loh pawhin a thleng thin. Nang emaw, i chhûngkaw zînga mi tu emaw chuan chau takin i inhria em? I vun chu a sen deuh deuh a ni mai thei, a nih loh leh thawk harsa deuh i nei a ni mai thei? Hengte hi a chang chuan natna langsar lo zawk mahse pawimawh tak Hereditary Spherocytosis , tunlaia kan sawi tur chhinchhiahna a ni thei. Chuvangin hei hi eng nge a nih i en ang u?

Hereditary Spherocytosis hi eng nge ni?

A awlsam zawngin, hei hi thisen natna rochun a ni . Thil thleng chu kan thisen sen (red blood cells) te hi a tlangpui aia rang zawkin an chhe vek a ni. Hei hian hemolytic anemia tih natna a thlen thin .

Tunah en teh, kan taksaah thisen sen (red blood cells) kan nei a. Hengte hi taksa pum puia oxygen phurtu cell te an ni. A tlangpuiin heng thisen sen te hi disc ang mai an ni a, a sir lehlamah chhung lam hawiin an ben a, an inthlak danglam thei bawk. `Donuts` te tak te ang mai an ni a, mahse a laiah chuan khur an nei lo. Hetianga an inthlak danglam theihna avang hian thisen kalna kawng tenau ber pawh an squeeze thei a ni.

Mahse he hereditary spherocytosis condition-ah hian thil thleng chu heng thisen sen (red blood cells) te pianzia hi a inthlak danglam thin. An disc pianzia chu an hloh a, ball te tak te, a nih loh leh spherical . Heng spherical cell te hi spherocyte kan ti a . Buaina chu, heng spherocyte te hi an flexible lutuk lo. Tlemin an khauh deuh a, chuvangin thisen kalna kawng an kal lai hian, a bik takin an kal pelh hian an tang a, an chhe awlsam hle. Thisen a\angin an paih chhuak rang zawk a, thisen sen pangngai aia rang zawkin an chhuak \hin.

Hetiang dinhmun hian tute nge a nghawng nasa ber?

He natna hi Northern Europe emaw North American thlahtute zingah hmuh tam ber a ni. Mahse, khawvela tu pawh a nghawng thei a ni. Data atanga a lan danin, doctor-te chuan khawvel mihring 2,000 atanga 5,000 velin he natna hi an vei thei niin an chhut.

Doctor te chuan he natna hi nausen emaw naupan lai emaw ah an hmuchhuak tlangpui thin . Naupang thenkhat chuan kum 3 leh 8 inkarah symptoms an nei tan thin a, mahse mak tak maiin mi thenkhat chuan kum 30 emaw 40 emaw an nih hma chuan symptoms an nei lo.

Engtin nge hereditary spherocytosis hian ka taksa a nghawng?

A hmaa kan sawi tawh ang khan thisen tlakchhamna (hemolytic anemia) bakah hian he natna vei tam tak hian natna dang engemaw zat an nei thei a:

• Splenomegaly: Kan ril hi thisen tifai thei filter ang a ni. Thisen sen hlui leh chhia te a paih chhuak thin. Chuvangin, chu spherical `spherocytes` te chu spleen vein te tak te kal tlang tura an beih laiin an tang tlat thin. Cell stuck an tam chuan spleen chu a lo hring tan thin.
• Jaundice natna: 1.1.Hei hi i vun, i mit var (sclera), leh mucous membrane te chu a sen a nih chuan a ni. Thisen sen (red blood cells) a chhe rang lutuk chuan i thisenah bilirubin an tih thil sen (yellow substance) a lo awm khawm thin. Jaundice hi he bilirubin level a san chuan a awm thin.
• Gallstones: Bilirubin level a sang reng chuan gallstones a lo awm thei.

Thisen cell chhe lutuk avanga hemolytic anemia natna lanchhuahna chu engte nge ni?

Jaundice leh spleen swelling bakah hian symptom dang engemaw zat a awm thei bawk:

• Thâwk harsa (dyspnea): Hei hi taksa mamawh oxygen phur thei tur thisen sen (red blood cells) a awm loh vang a ni.
• Chauhna: Nitin hna thawh theih loh khawpa chau lutuk tih hriatna.
• Rapid heartbeat (tachycardia): Thinlung chu a na tur aia chak zawkin a thawk tan thin. Chutiang a lo thlen chuan thinlungin thisen a khat hun a nei tlem a, chu chuan taksain oxygen a mamawh zat a tihtlem phah a ni.
• Hypotension: Thisen sang hi beisei aia hniam a ni.

Mi zawng zawng hian heng dinhmun zawng zawng hi kan tawng vek em?

Ni lo, a ni lo. Doctor-te chuan he natna, Hereditary Spherocytosis hi chi thum (a chang chuan category palina, moderate/ severe ) ah an then a, a natna lan chhuah dan azirin.

• Mild: He category ah hian damlo 20% atanga 30% vel an tel a ni. Hemolytic anemia an nei a ni. Mahse, kum 30 emaw kum 40 emaw an tlin hma chuan symptom dang a lang lo.
• Moderate: Damlo 60% leh 75% inkar chu he category-ah hian an tel a ni. Hei hian nausen leh naupang te te a huam a ni. Anemia leh jaundice na lo tak atanga na lo tak tak an nei thei bawk.
• Severe: Hei hi a na ber ber a ni. Damlo 5% vel chu he category-ah hian an tel a ni. Nau piang tharte hian an pian atanga kar khat chhungin thisen tlakchhamna na tak chhinchhiahna an nei thin.

Hei hi eng nge a chhan?

A hming ang bawkin hei hi thlahtute atanga lo chhuak a ni a, nu leh pa atanga fate hnena kai theih tihna a ni . Kan nu leh pate hnen atangin gene copy kan dawng vek a. Heng genes-ah hian mutations , emaw, inthlak danglamna emaw a awm chuan kan fate hnenah kan kai thei a ni. Hereditary spherocytosis-ah chuan he natna hi gene panga mutations avanga lo awm a ni . Heng genes te hian thisen sen (red blood cells) pawn lam (outer shell) siamtu proteins te hi code a ni. (Natna nasat dan hi mutation chi hrang hrangah a innghat.)

He natna vei zinga 75% vel chuan autosomal dominant takin an rochun thin. Chumi awmzia chu natna thlentu tur hian nu leh pa pakhat atanga mutated gene pakhat chauh a mamawh tihna a ni. Nu leh pa atanga piang, mutated gene nei chuan chu gene chu a rochun theihna chance 50% a nei a ni.

Mi dangte chuan nu leh pa pahnih aṭanga mutated gene copy khat an rochun chuan an rochun a ni. Hei hi autosomal recessive pattern an ti a. Hetiang a nih chuan nu leh pate hi carrier chauh an ni a, a tlangpuiin symptoms an lantir lo.

Carrier pahnihin fa an neih chuan naupang pakhatin natna vei theihna chance 25% an nei a, carrier an nih theihna chance 50% an nei a, a nghawng loh theihna chance 25% an nei bawk.

Heng genes te hi an inthlak danglam hian eng nge thleng thin?

Kan cell zawng zawng hian cell membrane kan nei vek a . Hei hian cell chhunga thil awmte chu pawn lam boruak a\angin a thliar hrang a, a humhim bawk. Thisen sen (red blood cells) membrane hi a pawn lam membrane te tak te leh a chhung lam cytoskeleton atanga siam a ni a, chu chu protein inzawmkhawmtu atanga siam a ni.

Thisen sen (red blood cells) te hi an ben a, an twist a, an pianzia an thlak danglam a ngai a ni. Chutiang chuan thisen kalna kawng te tak te te chu an hrual thei a, spleen an paltlang thei bawk. Kawr nêm tak chu suitcase khata khat takah kan fold ang maiin han ngaihtuah teh. Red blood cell membrane hian a tul hunah a pianzia a thlak thei a, chutih rualin a disc pianzia bik chu a vawng reng thei bawk.

Hereditary spherocytosis-ah chuan genetic mutations hian red blood cell membrane-a protein awmte a nghawng a ni. Hei hian cytoskeleton leh pawn lam membrane inzawmna a tibuai a ni. Chumi hnuah chuan cytoskeleton chuan pawn lam membrane chu a pui thei lo. Chumi avang chuan thisen sen te chu an flexible disc shape atang chuan rigid, spherical ``spherocytes'' ah an inthlak a ni.

He natna hi Doctor ten engtin nge an hriat chian?

Doctor-te chuan he natna hi i symptoms enin, nang leh i chhungte damdawi lam chanchin zawtin, test eng emaw zat an ti a. Heng test-ah hian:

• Complete blood count (CBC): Hei hian i thisen chungchang leh hriselna zawng zawng a hriattir a.
• Peripheral blood smear: Hei hian thisen cell lian leh te, a pianzia a enfiah thin. Spherocyte awm leh awm loh a enfiah thei bawk.
• Reticulocyte count: Hei hian i ruhro hian thisen sen hrisel tak tak a siam chhuak tawk em tih a enfiah thin.
• Direct antiglobulin test (Direct antiglobulin - Coombs test): Hei hian autoimmune hemolytic anemia a awm leh awm loh a enfiah thin.
• Bilirubin level: Thisen test a ni a, thisenah bilirubin a tam em tih enfiahna a ni.
• Red cell osmotic fragility: Hei hian thisen sen (red blood cells) a chhiat awlsam dan a teh a ni.
• Plasma membrane electrophoresis: Hei hi electric field hmanga DNA, RNA emaw protein emaw gel emaw liquid emaw atanga thliar hrangna hmanraw bik a ni. Thisen sen hring membrane-a eng protein nge mutation nei tih a en thin.

Hei hi engtin nge enkawl a nih?

Enkawl dan pawh a lan dan azirin a inang lo. Entirnan, nau piang thar, thisen tlakchhamna nasa tak nei chu a natna hmuhchhuah a nih veleh thisen pek leh/ emaw erythropoietin-stimulating agents (ESA) pek theih a ni. ESAs hi thisen zam (red blood cells) siam chhuahna tichaktu damdawi a ni.

Enkawlna dangte chu:

• Phototherapy: Nausen piang tharte jaundice enkawlna atana enkawlna light tak a ni.
• Thisen pek: Thisen hi thisen tlakchhamna (anemia) enkawlna atan pek a ni.
• Splenectomy: Natna khirh tak enkawlna atan spleen hi surgery hmanga lakchhuah a ni.
• Cholecystectomy: He surgery hi gallstones enkawlna atan an ti thin.
• Iron chelation therapy: Thisen pek fo hian taksaah iron tam lutuk a tipung thei (hemochromatosis) . He treatment hi he iron tam lutuk hi paih chhuah nan hman a ni.

Hereditary spherocytosis hi a veng thei ang em?

I chhungkuaa mi tu emaw hian he natna hi a vei a nih chuan, chu chu thlahtu (hereditary history) a awm chuan ven a harsa hle. A chhan chu genes atanga lo chhuak thil a nih vang a ni. Mahse hriat reng tur pawimawh tak chu i chhungkuaa mi tu emawin a neih vang mai mai chuan nangmah emaw i fate emaw hian he natna hi i vei ngei ang tihna a ni lo.

Entirnan, i nu leh pa pakhat hnen atanga mutated gene i rochun chuan 50% in natna i vei theihna chance i nei a ni. Nu leh pa pahnih atanga mutated gene i rochun chuan natna vei theihna chance 25% i nei a ni. Tin, natna kengtu i nih a, symptom i lantir loh theihna chance 50% a awm bawk.

Hemi chungchangah hian ngaihtuahna leh ngaihtuahna i neih chuan i fa doctor emaw hnenah hereditary spherocytosis test neihpui turin i sawi thei ang. Chu result chuan nangmah emaw, i fa emaw hian genetic mutation hi in rochun em tih hriat theih nan a pui ang che. Tichuan, eng nge i beisei ang tih ngaihtuahna i nei thei ang.

I doctor chuan test result awmzia te, natna chu a na lo emaw, a hniam emaw, a na emaw, nakin lawkah eng dinhmun nge lo awm thei tih te, leh an natna lan chhuah hmasak berte chu eng nge ni tih te a hrilhfiah ang che.

Kei/ka fa hian hetiang dinhmun hi a neih chuan eng nge ka beisei ang?

Hereditary spherocytosis vei tam zawk hian prognosis tha tak an nei a . Mahse, mi zawng zawng hi kan inang vek lo. I fa emaw i fa emaw prognosis chu natna nasat dan te, hriselna lama harsatna dang i neih leh neih loh te, leh i hriselna zawng zawngah a innghat a ni.

Ka fa hian hereditary spherocytosis a nei a. Engtin nge ka enkawl ang?

He natna vei naupangte enkawl zui zelHei hi an hriselna zawng zawng enfiah nan leh natna lan chhuah thar, thisen tlakchham emaw, gallstone emaw te enfiah nan a ni. I fain thisen pek fo a mamawh chuan, doctor-te chuan hepatitis B virus laka vaccine pek an rawt thei a ni . I fate chu virus infection laka i tih theih dan tur, parvovirus B19 , hriselna lama harsatna nasa tak thlen nghal thei tur chungchangah pawh thurawn an pe thei che a ni.

Hereditary spherocytosis hi thisen natna rochun atanga lo chhuak a ni a , dam chhung damdawi lam enkawl ngai a ni . Doctor-te chuan he natna avanga hriselna lama harsatna awm \henkhat chu an enkawl thei a ni. Mahse, he thisen natna hi damdawi a la awm lo.

A tawp berah chuan ka sawi tur chu... (Take-Home Message)

Natna khirh tak nena khawsak emaw, natna vei enkawl emaw hi thil awlsam a ni ngai lo. Tin, mi tam takin an hriat loh leh an hriat ngai loh dinhmun i neih lai hian a harsa zawk thei bawk. Nang emaw, i fa emaw hian hereditary spherocytosis i vei a nih chuan, i rilru a buai hle a, nangmah chauhvin i awm thei a, ṭanpuina dil tur pawh i nei lo thei bawk.

Lungngai suh. I doctor nen inbia ang che. Nang leh i naute tanpui nan theihtawp an chhuah ang. I zawhnate chu lawm takin an chhang ang. He zinkawngah hian nangmah chauh i ni lo tih hre reng ang che. I mamawh support leh information i hmu thei ang.

He thu hi i tan a tangkai ngei ka beisei. Hrisel takin awm rawh!

` Hereditary spherocytosis, red blood cells, thisen tlakchhamna, spleen, thlahtu natna, genes, thisen natna, jaundice, gallstones