Yu kin brus izi wan? Yu nɔ kin blɔd izi wan? Lɛ wi tɔk bɔt Glanzmann Thrombasthenia (GT)!

Yu ɔ yu pikin kin tek lɔng tɛm fɔ stɔp fɔ blɔd ivin we dɛn kɔt am smɔl? Ɔ yu jɔs gɛt blu spat (bruis) ɔlsay na yu bɔdi? Sɔntɛnde, i kin tan lɛk se dɛn tin ya na nɔmal tin, bɔt sɔntɛnde dɛn kin bi sɔntin we wi fɔ wɔri bɔt. Na di kɔndishɔn we wi go tɔk bɔt tide, we dɛn kɔl Glanzmann Thrombasthenia (GT). Nɔ wɔri, wi go kip ɔltin simpul.

Wetin na Glanzmann Trɔmbastɛnia (GT)?

Fɔ tɔk am simpul wan, Glanzmann Thrombasthenia (GT) na wan sik we kin de fɔ lɔng tɛm (i.e. layf) we kin mek yu brus izi wan ɛn i nɔ kin izi fɔ yu fɔ stɔp fɔ blɔd. Di men tin we kin mek wi gɛt prɔblɛm na di pletlɛt dɛn we de na wi blɔd, we na di smɔl smɔl sɛl dɛn we de ɛp fɔ mek blɔd klɔt.

Imajin, if yu gɛt GT, bikɔs ɔf wan jenɛtik muteshɔn na yu bɔdi, dɛn pletlɛt ya nɔ de mek wan impɔtant prɔtin we yu nid fɔ mek blɔd klɔt. Bikɔs ɔf dis, di blɔd kin klɔt smɔl smɔl. Di rizulyt na dat yu de blɔd bɔku. Di kayn we aw dis blɔd kin kɔmɔt kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Fɔ sɔm pipul dɛm, dis kin bi smɔl smɔl blɔd we dɛn kin mɛn na os. Fɔ ɔda pipul dɛn , i kin rili bad ɛn dɛn nid fɔ gɛt tritmɛnt kwik kwik wan .

Aw kɔmɔn tin fɔ Glanzmann Thrombasthenia (GT)?

Glanzmann Thrombasthenia (GT) na rili wan sik we nɔ kin apin so ɔltɛm. Masta sabi bukman dɛn we sabi bɔt mɛrɛsin se na wan pan ɛvri milyɔn pipul dɛn na di wɔl kin bɔn wit dis sik.

כltu, na sכm kכmyuniti dεm usay dis jεnεtik vεryushכn de pas dכn frכm jεnereshכn to jεnereshכn, dis nכmba de hכy sכmtεm. Dat min se, na dɛn kayn kɔmyuniti ya, lɛk wan pan ɛvri tu ɔndrɛd tawzin pipul dɛn kin si dis sik. Dɛn ripɔt se di nɔmba fɔ di pikin dɛn we dɛn bɔn wit dis GT kɔndishɔn rili bɔku na sɔm kɔntri dɛn na di Midul Is, na di provins dɛn na Nyufaundlan ɛn Labrador na Kanada, ɛn pan di Romani kɔmyuniti na Frans.

Wetin na di sayn dɛm fɔ Glanzmann Thrombasthenia (GT)?

If yu gɛt GT, yu kin blɔd pas aw ɔda pɔsin go blɔd if dɛn gɛt di sem injuri. Ɔ yu kin bigin fɔ blɔd we yu nɔ bin de ɛkspɛkt ɛn fɔ no rizin.

Di men sayn dɛm fɔ Glanzmann Thrombasthenia (GT) na:

• Brus rili izi: Ivin smɔl bɔmp kin mek big brus.
• Blɔd na yu gɔm: Yu gɔm kin blɔd izi wan we yu de brus yu tit.
• Nɔs blɔd ɔltɛm (epistaxis): Sɔm pipul dɛn kin gɛt blɔd na dɛn nos bɔku tɛm insay di wik, ivin we dɛn jɔs tinap.
• Pɔpul spat ɔ pat na di skin (purpura): Dɛn tin ya difrɛn frɔm nɔmal brus ɛn dɛn kin bi big spat.
• Smɔl pepul, brawn, ɔ rɛd dɔt dɛn na di skin (petechiae): Dis na smɔl dɔt dɛn we tan lɛk se dɛn chuk dɛn wit pin.
• Menorrhagia: Blɔd we de kɔmɔt pasmak we uman dɛn de gɛt mɔnt: Blɔd we kin ebi pas aw i kin kɔmɔt.

insay GT, intanεt bכdi nכ kin bכku pas blכd we de kכmכt frכm wan skin wund (lεk we dεn kכt) כ mכkus mεmbran (lεk insay di nos כ mכt).

Wetin mek Glanzmann Thrombasthenia (GT) kin apin? Wetin na di tin dɛn we kin mek i apin?

di pikin dεm we dεn bכn wit Glanzmann Thrombasthenia (GT) kin gεt wan dεfekt, כ m כtεshכn , na di jin we de mek wan protin we dεn kכl integrin alpha IIb/beta 3, we de εp di bכdi pletlet dεm fכ kכlכt. fכ mek pikin gεt GT, i fכ gεt di jin we nכ de wok fayn frכm in mama εn papa. dis dεn kכl am כtosom rεsεsiv inhεritεns .

Bɔku tɛm, mama ɛn papa dɛn nɔ kin no se na dɛn gɛt dis jin we nɔ fayn. Dis na bikɔs dɛn nid tu jin dɛn we nɔ fayn fɔ sho di sayn dɛn. Carrier na pɔsin we gɛt wan nɔmal jin ɛn wan jin we nɔ fayn.

If di mama ɛn papa ɔl tu na di wan dɛn we de kɛr pikin, dɛn gɛt 25% chans fɔ gɛt pikin we gɛt GT.

Leta i kin bigin Glanzmann Thrombasthenia (GT) .

Sɔm pipul kin gɛt GT leta na dɛn layf. Dis nɔ kin apin so ɔltɛm. Pan ɔl we i kin apin, masta sabi bukman dɛn we sabi bɔt mɛrɛsin stil de kɔl Glanzmann Thrombasthenia (GT) as wan sik we dɛn kin bɔn wit blɔd .

dis na aw GT de divεlכp leta, we yu bכdi de mek antibodi dεm agens di integrin alfa IIb/beta 3 protin we wi bin dכn tכk bכt. Sɔm sik dɛn, ivin sɔm mɛrɛsin dɛn kin mek pɔsin gɛt dis. Bɔt di tin we kin apin na di sem tin. Bikɔs di aktif protin nɔ de, i kin tek lɔng tɛm fɔ mek yu pletlɛt dɛn klot.

Wetin na di poshubul kɔmplikeshɔn dɛm fɔ Glanzmann Thrombasthenia (GT)?

uman dεm kin gεt ayron-dεfisiεns anemia biכs fכ hεvi mεnstral bכdi bכdi. If i siriɔs, GT kin mek yu blɔd kɔmɔt bad bad wan, we kin mek yu layf de pan denja (ɛmoraji). Dis risk kin bɔku mɔ di tɛm we pɔsin de blɔd bɔku , lɛk we i de bɔn pikin ɔ we dɛn de du ɔpreshɔn.

Bɔt nɔ wɔri, if dɛn no se yu gɛt GT, yu dɔktɔ kin tek di step dɛn we nid fɔ mek dɛn nɔ gɛt dɛn prɔblɛm ya.

Aw yu go no fɔ tru if yu gɛt Glanzmann Thrombasthenia (GT)? (Diagnosis) .

Dɔktɔ dɛn kin yuz difrɛn tɛst dɛn fɔ no if pɔsin gɛt GT. Bɔku tɛm, dɛn kin no am we dɛn smɔl. As mama ɔ papa, if yu pikin kin brus izi wan, i kin gɛt blɔd na in nos ɔltɛm, ɔ i kin tek lɔng tɛm fɔ lɛ i stɔp fɔ blɔd, yu kin want fɔ kɛr yu pikin go to dɔktɔ. Sɔntɛnde, impɔtant tɛm dɛn na pikin in layf, fɔ ɛgzampul:

• We yu de sakɔmsayz pikin.
• We di fɔs pikin tut fɔdɔm.
• If na gyal pikin, na we i rich in fɔs tɛm (menarche).

Dis tɛm, yu kin notis se yu de blɔd pasmak ɔ yu de kɔntinyu fɔ blɔd. Mɔr pas 80% pan di pipul dɛm wae gɛt Glanzmann Thrombasthenia (GT) kin no bifo dɛn rich 14 ia, ɛn bɔrku kin gɛt am bifo dɛn ol 5. Pipul dɛm wae dɛn kin no se gɛt GT as big pipul nɔr kin no se dɛn gɛt am te dɛn gɛt siriɔs injuri ɔr aksidɛnt.

Us tɛst dɛn de du fɔ dis?

Dɔktɔ dɛn kin yuz blɔd tɛst fɔ no if pɔsin gɛt Glanzmann Thrombasthenia (GT). Dɛn tɛst ya kin sho prɔblɛm wit:

• Yu pletlɛt dɛn: We yu du kɔmplit blɔd kɔnt (CBC) tɛst kin chɛk if yu pletlɛt kɔnt nɔmal. Wan periferik blɔd smyuɛl kin chɛk bak if dɛn luk abnɔmal.
• Aw yu blɔd kin klɔt fayn: Bɔku tɛst dɛn lɛk di Prothrombin Time (PT) tɛst ɛn di Partial Thromboplastin Time (PTT) tɛst kin no aw yu blɔd kin klɔt kwik ɛn fayn. Dɛn tin ya kin ɛp bak fɔ rul ɔut mɔ kɔmɔn blɔd dizayd dɛm we gɛt di sem kayn simptom dɛm lɛk GT (e.g., von Willebrand disease, Bernard-Soulier syndrome).
• Integrin alpha IIb/beta3: tεst dεm lεk fכ fכlכ saytכmetri εn monoklonal antibodi panεl dεm kin no if yu gεt dεfisiεns כ difεkt na dis protin. Dɛn kin no bak if yu gɛt antibodi dɛn we de atak dis prɔtin.
• yu jin dεm: jεnεtik tεst kin kכnfכm if yu gεt di jεnεtik mכtεshכn dεm (jin dεm we dεn kכl `ITGA2B` εn `ITGB3`) we de mek GT.

Wetin na di tritmɛnt dɛm fɔ Glanzmann Thrombasthenia (GT)?

If dɛn no se yu gɛt GT, yu dɔktɔ go advays yu bɔt aw fɔ ridyus yu risk fɔ blɔd. I go mɔs bi se yu go nid fɔ wok wit dɔktɔ we de mɛn yu blɔd . Apat frɔm tin dɛn we yu kin du fɔ mek yu nɔ gɛt blɔd, di tritmɛnt go dipen pan aw yu blɔd bad bad wan.

Fɔ smɔl to mɔdaret blɔd

Di tritmɛnt fɔ dɛn kayn kes ya na:

• Kɔmpreshɔn: Yu dɔktɔ go tich yu aw fɔ put prɛshɔn fɔ ridyus blɔd we de kɔmɔt na wund ɛn stɔp smɔl smɔl blɔd we de kɔmɔt na yu nos. Fɔ blɔd we de kɔmɔt na yu nos bad bad wan, yu dɔktɔ kin put sɔntin lɛk goz ɔ fom insay yu nos fɔ stɔp di blɔd (nasal packing).
• Mɛrɛsin: Yu kin nid mɛrɛsin lɛk fibrin sialant (sɔntin lɛk blɔd glu), jelatin fom, trombin we yu kin put pan yu bɔdi, ɛn antifibrinolytic ɛjɛn fɔ ɛp fɔ mek blɔd klɔt.

Fɔ blɔd we de kɔmɔt bad bad wan

If pɔsin gɛt siriɔs blɔd we Glanzmann Thrombasthenia (GT) kin mek i nid fɔ gɛt tritmɛnt kwik kwik wan . Di tritmɛnt dɛn we dɛn kin gi na:

• Plɛtlɛt transfyushɔn: Yu kin nid fɔ mek dɛn gi yu pletlɛt fɔ stɔp di blɔd we de kɔmɔt bad bad wan, ɔ fɔ mek yu nɔ lɔs blɔd bifo dɛn du big ɔpreshɔn ɔ bɔn pikin. Dis min se dɛn fɔ gi yu pletlɛt frɔm pɔsin we gɛt wɛlbɔdi.
• Rɛd blɔd sɛl: If yu dɔn lɔs bɔku blɔd, dɛn kin gi yu rɛd blɔd sɛl bak fɔ mek yu gɛt da blɔd de bak.
• Rikombinεnt koaguleshכn fכktכ VIIa (rFVIIa): Yu kin nid dis mεdisin if yu nכ fayn fכ pletlet transfyushכn.
• εmatopoiεtik stεm sεl transplant: stεm sεl transplant na di כnli tritmεnt we kin kכl GT. Dis kin bi opshɔn fɔ siriɔs kes dɛm fɔ GT we dɛn nɔ kin ebul fɔ kɔntrol wit ɔda we dɛn. Insay dis, dɛn kin injɛkt stem sɛl dɛn frɔm pɔsin we gi yu insay yu bɔdi.

Ɛni kɔmplikeshɔn de pan di tritmɛnt?

Yɛs, fɔ tru. bitwin 20% εn 30% pan di pipul dεm we de gεt pletlet dεm de divεlכp antibodi dεm agens dεm as tεm de go. Dis min se di nyu pletlɛt dɛn we dɛn kin gɛt nɔ go wok. If dat apin, yu go gɛt fɔ go to ɔda tritmɛnt, lɛk di rFVIIa injɛkshɔn. Bɔt da mɛrɛsin de gɛt sɔm prɔblɛm dɛn bak. Fɔ ɛgzampul, i kin mek yu blɔd klɔt tumɔs.

Pan ɔl we stem sɛl transplant kin mɛn Glanzmann Thrombasthenia (GT), fɔ fɛn pɔsin we go mach yu bɔdi kin bi prɔblɛm. insay stεm sεl transplant fכ GT, di dכna dεm kin bi bכda sista dεm. Ivin if dɛn fɛn wan mach, risk de fɔ mek yu bɔdi nɔ gri wit di sɛl dɛn we de gi yu. Dɛn kɔl dis sik Graft versus Host Disease (GvHD) .

We yu dɔktɔ tɔk to yu bɔt di tritmɛnt dɛn we yu go gɛt, i go ɛksplen di prɔblɛm dɛn ɛn di bɛnifit dɛn bifo tɛm.

Us kayn fiuja pɔsin we gɛt GT kin ɛkspɛkt?

Nɔr tu pipul dɛm wae gɛt Glanzmann Thrombasthenia (GT), ivin if dɛn kɔmɔt na di sem famili ɛn gɛt di sem jɛnɛtik muteshɔn, kin gɛt dis sik difrɛn we. Aw bɔku blɔd yu gɛt ɛn wetin yu nid fɔ du fɔ kɔntrol yu kɔndishɔn go dipen pan yu patikyula kɔndishɔn.

Di gud nyus na dat, wit di rayt manejmɛnt, bɔrku pipul dɛm wae gɛt Glanzmann Thrombasthenia (GT) de liv nɔrmal layf wit nɔrmal layfspan. Sɔntɛnde, di blɔd we de kɔmɔt kin ivin go dɔŋ as dɛn de ol.

Aw a go liv fayn wit GT? (Aw fɔ tek kia ɔf misɛf)

If yu gɛt GT, wok wit yu dɔktɔ fɔ ridyus yu risk fɔ blɔd ɛn fɔ gɛt siriɔs anemia. Yu fɔ du dɛn tin ya:

• No gud gud wan us mɛrɛsin yu nɔ fɔ tek.Fɔ tru, yu fɔ de fa frɔm di mɛrɛsin dɛn we de mek yu blɔd tan (lɛk aspirin ɛn ɔda NSAID) ɛn ɔda mɛrɛsin dɛn we yu dɔktɔ dɔn tɛl yu fɔ nɔ tek.
• Tek kia gud gud wan fɔ yu mɔt wɛlbɔdi. Fɔ brus ɛn yuz flos yu tit ɛvride, ɛn fɔ go to yu dɛntist ɔltɛm, dat kin ɛp fɔ mek yu nɔ gɛt blɔd na yu tit.
• Tek kia gud gud wan fɔ yu nos bak. If yu kip di insay pat na yu nos wet, dat kin ɛp fɔ mek yu nɔ gɛt blɔd na yu nos. Yu kin yuz humidifier, yuz nasal spray, ɔ put smɔl Vaseline insay yu nos fɔ mek i nɔ dray.
• Manej di ebi ebi blɔd we de kɔmɔt na yu mɔnt. If yu yuz ɔmon fɔ kɔntrol di pikin, dat kin ɛp fɔ mek yu nɔ gɛt ebi ebi prɛgnɛshɔn. Tɔk to yu dɔktɔ we de mɛn uman dɛn bɔt dis.
• Wear wan mɛdikal alert breslɛt. Ɔltɛm, kɛr ID kad wit yu so dat yu go no se yu gɛt prɔblɛm wit blɔd we yu gɛt ɛnitin fɔ du wit am. I kin sev yu layf.
• Gɛt plan fɔ wetin fɔ du if yu gɛt blɔd episɔd. No ustɛm fɔ trit am na os ɛn ustɛm fɔ go to dɔktɔ wantɛm wantɛm. No udat fɔ tɔk to ɛn usay fɔ go. Da we de, i nɔ go let fɔ gɛt tritmɛnt.

Ustɛm a fɔ go to dɔktɔ?

If yu ɔ yu pikin de sho sayn dɛn fɔ blɔd izi wan, go to dɔktɔ. Brus ɛn blɔd na in nos kin bɔku. Bɔt if dɛn sayn ya kin apin bɔku tɛm, ɔ if di blɔd kin tek lɔng tɛm fɔ stɔp – fɔ tru, go to dɔktɔ.

Ustɛm yu fɔ go na di Imejɛnsi Tritmɛnt Yunit (ETU) ?

If yu gɛt blɔd we yu nɔ ebul fɔ stɔp, inklud di blɔd we de kɔmɔt na yu mɔnt, go stret to di imejensi dipatmɛnt (ETU) we yu nɔ mek apɔntinmɛnt fɔ go to dɔktɔ. Sayn dɛn we yu fɔ wach bɔt na:

• Wan blɔd we de kɔmɔt na di nos we nɔ de stɔp fɔ wan awa.
• Hevi menstrual flow we de las tu awa ɔ mɔ, wet tu tampon ɔ tu pad fɔ wan awa ɔ mɔ.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

Nɔ fɔgɛt fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Us tɛst dɛn fɔ du fɔ no if a gɛt sik?
• Us kayn tritmɛnt a nid?
• Us chenj dɛn a kin chenj mi layf fɔ mek a ebul fɔ kɔntrol mi sik?
• Wetin na di chans fɔ mek mi pikin gɛt dis GT kɔndishɔn?
• yu rekomend foh du jenetik tehst if a de tink foh geht bele?

Yu tink se di pletlɛt kɔnt nɔmal fɔ pipul dɛn we gɛt GT?

di pletlet kכnt kin nכmal na Glanzmann Thrombasthenia (GT).Di prɔblɛm nɔto di nɔmba fɔ di pletlɛt dɛn. Bifo dat, na prɔblɛm wit di prɔtin we de ɛp di pletlɛt dɛn fɔ stik togɛda, we de mek di pletlɛt dɛn nɔ klɔt fayn fayn wan.

Wetin na di difrɛns bitwin Glanzmann Thrombasthenia (GT) ɛn Bernard-Soulier syndrome (BSS)?

Glanzmann Thrombasthenia (GT) ɛn Bernard-Soulier syndrome (BSS) na dɛn tu tin ya we nɔ kin apin so ɔltɛm we kin afɛkt di we aw yu blɔd kin klɔt. Bɔt difrɛn difrɛn jin dɛn we kin chenj na di jin dɛn kin mek dɛn. Di patikyula prɔblɛm dɛn we yu gɛt wit yu blɔd pletlɛt dɛnsɛf difrɛn. Pipul dεm wae gεt BSS kin gεt כl tu di lכw pletlεt kכnt εn abnכmal big pletlet.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt (Take-Home Message) .

Glanzmann Thrombasthenia (GT) na wan sik we yu ɛn yu hematologist nid fɔ wach gud gud wan fɔ yu layf. Wit GT, no we nɔ de fɔ no aw bad (ɔ smɔl) yu blɔd go bi. Bɔt if yu du tin fɔ mek yu nɔ gɛt bɔku blɔd, dat kin ɛp fɔ mek yu gɛt wɛlbɔdi. If yu GT tranga, tritmɛnt dɛn lɛk fɔ gi yu pletlɛt kin ɛp bak.

Pan ɔl we yu nɔr kin ebul fɔ kɔntrol fɔ bɔn wit dis sik, mɛmba se yu gɛt opshɔn fɔ manej am di kayn we we nɔ go ambɔg yu kwaliti fɔ liv. Nɔ fred fɔ go to dɔktɔ ɛn tek kia ɔf yusɛf. Dɔn yu kin rili liv fayn wit dis kɔndishɔn.

` Glanzmann thrombasthenia, GT, blɔd, blɔd pletlɛt, jɛnɛtik sik, brus, blɔd disɔda, pletlɛt