Yu rεd bכdi sεl dεm ‘sfεrikal’ tu? Lɛ wi tɔk bɔt hereditary spherocytosis!

Sɔntɛnde tin kin apin insay wi bɔdi we wi nɔ kin ivin no. Yu ɔ sɔmbɔdi na yu famili kin fil taya ɔltɛm? Sɔntɛm yu skin de tɔn yɔlɔ smɔl, ɔ yu gɛt smɔl prɔblɛm fɔ blo? Sɔntɛnde, dɛn tin ya kin bi sayn fɔ wan sik we nɔ kin bɔku bɔt we impɔtant we dɛn kɔl Hereditary Spherocytosis , we wi go tɔk bɔt tide. So lɛ wi si wetin na dis?

Wetin na Hɛritɛri Sfɛrosaytɔsis?

Fɔ tɔk am simpul wan, dis na wan sik we pɔsin kin gɛt frɔm in blɔd . Wetin kin apin na we wi rɛd blɔd sɛl dɛn kin brok kwik kwik wan pas aw i kin brok. Dis kin mek pɔsin gɛt wan sik we dɛn kɔl ɛmolaytik anemia .

Naw luk, wi gɛt rɛd blɔd sɛl dɛn na wi bɔdi. Dis na di sɛl dɛn we de kɛr ɔksijɛn go ɔlsay na di bɔdi. Nɔmal wan, dɛn rɛd blɔd sɛl ya tan lɛk disk, dɛn bɛn insay na di tu say dɛn, ɛn dɛn kin ebul fɔ chenj. Dɛn tan lɛk smɔl `donut`, bɔt dɛn nɔ gɛt ol na di midul. Bikɔs dɛn kin ebul fɔ chenj dis kayn we, dɛn kin ebul fɔ swɛt ivin di smɔl smɔl blɔd vesel dɛn.

bכt insay dis hεridita sfεrosaytosis kכndishכn, wetin de apin na di shep fכ dεn rεd bכdi sεl dεm ya de chenj. Dɛn kin lɔs dɛn disk shep ɛn dɛn kin tan lɛk smɔl bɔl dɛn, ɔ sfɛrikal . Wi kin kɔl dɛn sfɛrikal sɛl dɛn ya sfɛrosayt . di prכblεm na dat, dεn sfεrosayt dεm ya nכ de fleksibul. Dɛn kin stif smɔl, so we dɛn de travul tru di blɔd vesel dɛn, mɔ we dɛn pas na di splin, dɛn kin stɔp ɛn brok izi wan. Dɛn kin pul dɛn na di blɔd kwik kwik wan pas di nɔmal rɛd blɔd sɛl.

Udat dis tin kin afɛkt mɔ?

Dɛn kin si dis sik bɔrku pan pipul dɛm wae kɔmɔt na Nɔtan Yurop ɔ Nɔt Amɛrika. Bɔt, i kin afɛkt ɛnibɔdi na di wɔl. Di data sho se dɔktɔ dɛn se bitwin 1 pan ɛvri 2,000 ɛn 5,000 pipul dɛn na di wɔl kin gɛt dis sik.

Dɔktɔ dɛn kin no dis sik we dɛn smɔl ɔ we dɛn smɔl . Sɔm pikin dɛn kin bigin fɔ sho di sik bitwin 3 ɛn 8. Bɔt i sɔprayz fɔ no se sɔm pipul dɛn nɔ kin sho ɛni sayn te dɛn rich 30 ɔ 40. Sɔntɛnde, we di pikin we dɛn jɔs bɔn sho sayn fɔ se i gɛt siriɔs anemia insay wan wik afta dɛn bɔn am, dɔktɔ dɛn kin tink se dis sik de ɛn du blɔd tɛst.

Aw di sfɛrosaytɔsis we pɔsin kin gɛt frɔm in mama ɛn papa kin afɛkt mi bɔdi?

Apat frɔm di anemia we wi bin dɔn tɔk bɔt (hemolytic anemia), bɔku pipul dɛn we gɛt dis sik kin gɛt sɔm ɔda tin dɛn:

• Splenomegaly: Wi splin tan lɛk filta we de klin di blɔd. I de pul ol ɛn pwɛl rɛd blɔd sɛl dɛn. so, dεn sfεri `sfεrosayt dεm` de stכk we dεn de tray fכ pas tru di sכm sכm vein dεm na di splin. we di nכmba fכ di sεl dεm we stכk de bכku, di splin de bigin fכ swel.
• Jandis: .Dis na we yu skin, di wayt dεm na yu yay (sclera), εn di mכkus mεmbran dεm de tכn yכlכ. We di rɛd blɔd sɛl dɛn kin brok tu kwik, wan yɔlɔ tin we dɛn kɔl bilirubin kin gɛda na yu blɔd. Jandis kin apin we di lɛvɛl fɔ dis bilirubin go ɔp.
• Gal ston: If di bilirubin lɛvɛl kɔntinyu fɔ bɔku, gal ston kin fɔm.

Wetin na di sayn dɛm fɔ ɛmolaytik anemia we kin kam bikɔs di blɔd sɛl dɛn kin brok?

Apat frɔm jaundice ɛn spleen swɛlin, sɔm ɔda sayn dɛn kin de:

• I nɔ izi fɔ blo (dyspnea): Dis kin apin we di rɛd blɔd sɛl dɛn nɔ de fɔ transpɔt di ɔksijɛn we di bɔdi nid.
• Taya: Na filin fɔ taya pasmak we de mek i nɔ pɔsibul fɔ du wok dɛn ɛvride.
• Hat bit kwik kwik wan (tachycardia): Di at kin bigin fɔ bit fast pas aw i fɔ bit. We dis kin apin, di at nɔ kin gɛt bɛtɛ tɛm fɔ ful-ɔp wit blɔd, we kin mek di ɔksijɛn we di bɔdi nid nɔ bɔku.
• Hypotension: Blɔd prɛshɔn we smɔl pas aw dɛn bin de tink.

Yu tink se ɔlman kin gɛt ɔl dɛn tin ya?

Nɔ, i nɔ de du dat. Dɔktɔ dɛn kin put dis sik, Hereditary Spherocytosis, insay tri kategori (sɔntɛnde, di nɔmba 4 kategori kin de, we na mɔdaret/ siriɔs ), bay di kayn we aw di sik de.

• Mild: Dis kategori inklud 20% to 30% pan di sik pipul dɛm. Dɛn gɛt ɛmolaytik anemia. Bɔt ɔda sayn dɛn nɔ kin apin te dɛn ol 30 ɔ 40 ia.
• Mɔdarɛt: Bitwin 60% ɛn 75% pan di sik pipul dɛn kin fɔdɔm insay dis kategori. Dis kin inklud bebi ɛn smɔl pikin dɛn. Dɛn kin gɛt smɔl to mɔdaret anemia ɛn janda.
• Sivεr: Dis na de fכm wae de siriכs pas כl. Na lɛk 5% pan di sik pipul dɛn kin fɔdɔm insay dis kategori. Nyu bכn pikin dεm de sho sayn dεm fכ siriכs anemia insay wan wik afta dεn bכn dεm.

Wetin na di rizin fɔ dis?

As di nem sho, dis na sik we pɔsin kin gɛt frɔm in mama ɛn papa, we min se i kin pas frɔm mama ɛn papa to pikin dɛn . Wi ɔl kin gɛt kɔpi fɔ di jin dɛn frɔm wi mama ɛn papa. If ɛni chenj , ɔ chenj de na dɛn jin ya, dɛn kin pas am to wi pikin dɛn. insay sεrosaytosis we dεn kin gεt bכku bכku wan, di kכndyushכn kin kכz fכ mכtεsh כn insay fayv jin dεm . dis jin dεm de kכd fכ protin dεm we de mek di כta shel fכ di rεd bכdi sεl dεm. (Di kayn we aw di sik kin tranga kin dipen pan di kayn we aw di sik kin chenj.)

כlmost 75% pan di pipul dεm we gεt dis sik kin gεt am insay wan כtosom dכminant we. Dis min se i jɔs tek wan jin we dɔn chenj frɔm wan mama ɔ papa fɔ mek i gɛt di sik. di pikin we in mama εn papa bכn wit di mutated jin gεt 50% chans fכ gεt da jin de.

Ɔda wan dɛn kin gɛt am if dɛn gɛt wan kɔpi fɔ di jin we dɛn dɔn chenj frɔm dɛn mama ɛn papa dɛn ɔl tu. dis dεn kכl am כtosom rεsεsiv patεn. If na so i bi, di mama ɛn papa na di wan dɛn nɔmɔ we gɛt di sik ɛn bɔku tɛm dɛn nɔ kin sho di sayn dɛn.

We tu pipul dɛm we gɛt di sik gɛt pikin, ɛni pikin gɛt 25% chans fɔ gɛt di sik, 50% chans fɔ bi pɔsin we gɛt di sik, ɛn 25% chans fɔ mek i nɔ afɛkt am.

Wetin kin apin we dɛn jin ya chenj?

Ɔl wi sɛl dɛn gɛt wan sɛl mɛmbran . Dis na di tin we de mek di tin dɛn we de insay di sɛl difrɛn frɔm di say we de na do ɛn protɛkt am. di mεmbran fכ di rεd bכdi sεl dεm na wan tכn mεmbran na di כdasay εn wan saytoskelεt na insay, we mek wit protin dεm we de kכnεkt dεm togeda.

Rɛd blɔd sɛl dɛn nid fɔ bɛn, twist, ɛn chenj dɛn shep. Na so dɛn kin swɛt tru smɔl smɔl blɔd vesel dɛn ɛn pas na di splin. Tink bɔt am lɛk se wi de fold wan saf shirt insay wan bag we rili ful-ɔp. di rεd bכdi sεl mεmbran kin chenj in shep we i nid, pan כl we i de mεnten in spεshal disk shep.

insay hεridita sfεrosaytosis, di jεnεtik mכtεshכn dεm de afekt di protin dεm na di rεd bכdi sεl mεmbran. dis de disrupt di kכnεkshכn bitwin di saytoskεlet εn di כta mεmbran. afta dat di saytoskεlet nכ de ebul fכ gi sכpכt to di כta mεmbran. as a rizulכt, di rεd bכdi sεl dεm de chenj frכm dεn fleksibul disk shep fכ bi rigid, sfεrik ``sfεrosayt'' dεm.

Aw dɔktɔ dɛn kin no bɔt dis sik?

Dɔktɔ dɛn kin no dis sik bay we dɛn de luk yu sayn dɛm, aks bɔt yu ɛn yu famili in mɛdikal histri, ɛn du sɔm tɛst dɛm. Dɛn tɛst ya kin bi:

• Kɔmplit blɔd kɔnt (CBC): Dis kin gi infɔmeshɔn bɔt yu blɔd ɛn ɔl yu wɛlbɔdi.
• Peripheral blood smear: Dis de chɛk di sayz ɛn shep fɔ di blɔd sɛl dɛn. i kin chεk bak fכ di prεsεns fכ sfεrosayt dεm.
• rεtikulכsayt kכnt: Dis de chεk if yu bon mכro de prodyuz inof hεlty rεd bכdi sεl dεm.
• Dairekt antiglobulin tεst (Dayrekt antiglobulin - Coombs tεst): Dis de chεk fכ כtoimyun hεmolaytik anemia.
• Bilirubin lɛvɛl: Na blɔd tɛst we de chɛk fɔ si if bilirubin de bɔku na di blɔd.
• Rεd sεl osmotik fragiliti: Dis de mכsu aw i izi fכ rεd blכd sεl dεm fכ brok dכn.
• Plasma membran electrophoresis: Dis na spεshal tεknik we de yuz ilektrikal fil fכ separet DNA, RNA, כ protin dεm frכm jel כ likwid. i de luk us protin na di rεd bכdi sεl mεmbran gεt di mכtεshכn.

Aw dɛn kin trit dis?

Di tritmɛnt opshɔn dɛn kin difrɛn difrɛn wan bay di sayn dɛm. Fɔ ɛgzampul, dɛn kin gi nyu bɔbɔ we gɛt siriɔs anemia blɔd ɛn/ɔ erythropoietin-stimulating agents (ESA) jɔs afta dɛn no se i gɛt di sik. ESA na drɔgs we de mek dɛn mek rɛd blɔd sɛl.

Ɔda tritmɛnt dɛn we yu kin gɛt na:

• Fɔtotɛrapi: Na layt tritmɛnt we dɛn kin gi fɔ trit janda pan pikin dɛn we dɛn jɔs bɔn.
• Blɔd transfyushɔn: Dɛn kin gi blɔd as tritmɛnt fɔ blɔd we nɔ gɛt bɛtɛ blɔd.
• Splenectomy: Dɛn kin ɔpreshɔn di splin as tritmɛnt fɔ siriɔs kɔndishɔn.
• Cholecystectomy: Dɛn kin du dis ɔpreshɔn as tritmɛnt fɔ gal ston.
• Iron chelation therapy: If yu transfyuz yu blɔd ɔltɛm, dat kin mek di ayron we pasmak kam bɔku na di bɔdi (hemochromatosis) . Dɛn kin yuz dis tritmɛnt fɔ pul dis ayɛn we pasmak.

Yu tink se dɛn kin mek dɛn nɔ gɛt sfɛrosaytɔsis we dɛn kin gɛt frɔm dɛn mama ɛn papa?

If pɔsin na yu famili gɛt dis sik, dat min se if pɔsin gɛt dis sik we pɔsin kin gɛt frɔm in mama ɛn papa, i nɔ kin izi fɔ mek i nɔ gɛt am. Na bikɔs na sɔntin we kɔmɔt frɔm jin. Bɔt di tin we impɔtant pas ɔl fɔ mɛmba na dat, jɔs bikɔs pɔsin na yu famili gɛt am, dat nɔ min se yu ɔ yu pikin dɛn go mɔs gɛt dis sik.

Fɔ ɛgzampul, if yu gɛt wan mutated jin frɔm wan pan yu mama ɛn papa, yu gɛt 50% chans fɔ gɛt di sik. If yu gɛt di mutated jin frɔm yu mama ɛn papa ɔl tu, yu gɛt 25% chans fɔ gɛt di sik. Dɔn bak, 50% chans de fɔ mek yu gɛt di sik ɛn nɔ sho ɛni sayn.

If yu gɛt ɛnitin fɔ wɔri ɔr wɔri bɔt dis, yu kin tɔk to yu ɔ yu pikin in dɔktɔ bɔt fɔ mek dɛn du tɛst fɔ di sfɛrosaytɔsis we dɛn kin gɛt frɔm dɛn mama ɛn papa. Di rizulyt go ɛp yu fɔ no if yu ɔ yu pikin dɔn gɛt di jenɛtik mutation. Dɔn yu kin gɛt wan aidia bɔt wetin fɔ ɛkspɛkt.

Yu dɔktɔ go ɛksplen to yu wetin di tɛst rizɔlt min, if di sik nɔr kin pasmak, i nɔr kin pasmak, ɔr i bad, us kayn tin kin kam tumara bambay, ɛn wetin na dɛn fɔs sayn dɛm.

Wetin a fɔ ɛkspɛkt if mi/mi pikin gɛt dis kɔndishɔn?

Bɔrku pipul dɛm wae gɛt hereditary spherocytosis gɛt gud prognosis . Bɔt, nɔto ɔlman na di sem. Yu ɔ yu pikin in prɔgnosis dipen pan tin dɛm lɛk aw di sik tranga, if yu gɛt ɔda wɛl bɔdi prɔblɛm, ɛn yu ɔl wɛl bɔdi.

Mi pikin gɛt sfɛrosaytɔsis we dɛn kin gɛt frɔm in mama ɛn papa. Aw a go kia fɔ am?

Fɔ fala di pikin dɛn we gɛt dis sik ɔltɛmDis na fɔ wach dɛn ɔl wɛl bɔdi ɛn fɔ chɛk fɔ nyu sayn dɛm, lɛk anemia ɔ gal ston. If yu pikin nid fɔ gɛt blɔd ɔltɛm, dɔktɔ dɛn kin se i fɔ tek di vaysin fɔ di epataytis B vayrɔs . Dɛn kin advays yu bak bɔt di tin dɛn we yu kin du fɔ protɛkt yu pikin frɔm vayrɔs infɛkshɔn, lɛk parvovirus B19 , we kin mek i gɛt siriɔs wɛlbɔdi prɔblɛm wantɛm wantɛm.

Hereditary spherocytosis na wan sik we nɔ kin apin ɔltɛm we pɔsin kin gɛt frɔm in blɔd ɛn we kin nid fɔ gɛt mɛrɛsin fɔ ɔl in layf . Dɔktɔ dɛn kin trit di bad bad wɛlbɔdi prɔblɛm dɛn we di sik kin kam wit sɔntɛnde. Bɔt, no mɛrɛsin nɔ de fɔ dis blɔd sik.

Fɔ dɔn, a fɔ se... (Tek-Home Message)

Fɔ liv wit wan sik wae nɔr de dɔn, ɔr fɔ kia fɔ pɔrsin wae gɛt dis sik, nɔr kin izi ɔltɛm. Ɛn e kin tranga pasmak wae yu de liv wit wan sik wae bɔrku pipul nɔr ivin no bɔt ɔr dɔn yɛri bɔt. If yu ɔ yu pikin gɛt sfɛrosaytɔsis we yu kin gɛt frɔm yu mama ɛn papa, yu kin fil se yu de fil bad, yu de wangren, ɛn yu nɔ go gɛt ɛnibɔdi fɔ go to fɔ ɛp yu.

Nɔ wɔri. Tɔk to yu dɔktɔ. Dɛn go du ɔl wetin dɛn ebul fɔ ɛp yu ɛn yu pikin. Dɛn go gladi fɔ ansa yu kwɛstyɔn dɛn. Mɛmba se nɔto yu wangren de du dis waka. Yu kin gɛt di sɔpɔt ɛn infɔmeshɔn we yu nid.

A op se dis infɔmeshɔn go yusful to yu. Stay wit wɛlbɔdi!

` Hεridita sfεrosaytosis, rεd bכdi sεl dεm, anemia, splin, hεridita sik dεm, jin dεm, bכdi sik dεm, janda, gal stכn