So ɛnyɛ den sɛ wobɛpirapira? So ɛnyɛ mmerɛw sɛ mogya bɛtu wo? Momma yɛnka Glanzmann Thrombasthenia (GT) ho asɛm!

So wo anaa wo ba gye bere tenten ansa na mogya atɔ no esiane sɛ wɔatwa no ketewaa bi mpo nti? Anaasɛ wowɔ nsensanee bruu (akuru) wɔ wo nipadua nyinaa so kɛkɛ? Ɛtɔ da bi a, ɛte sɛ nea eyinom yɛ ade a ɛfata, nanso ɛtɔ mmere bi a ebetumi ayɛ biribi a ɛsɛ sɛ ɛhaw yɛn. Ɛno ne tebea a yɛbɛka ho asɛm nnɛ, a wɔfrɛ no Glanzmann Thrombasthenia (GT). Mma ɛnhaw wo, yɛbɛma biribiara ayɛ mmerɛw.

Dɛn ne Glanzmann Thrombasthenia (GT) a ɛma mogya tu?

Sɛ yɛbɛka no tiawa a, Glanzmann Thrombasthenia (GT) yɛ tebea a ɛtra hɔ kyɛ (i.e. nkwa nna nyinaa) a ɛma wo ho yɛ wo yaw ntɛmntɛm na ɛyɛ den ma wo sɛ wubegyae mogya. Nea ɛde ba titiriw ne mogya nkwammoaa a ɛwɔ yɛn mogya mu, nkwammoaa nketenkete a ɛboa ma mogya tu no ho haw.

Fa no sɛ, sɛ wowɔ GT a, esiane awosu mu nsakrae bi a ɛba wo nipadua mu nti, mogya nkwammoaa yi ntumi nyɛ protein titiriw bi a ehia na ama mogya atɔ. Esiane eyi nti, mogya a ɛtwetwe no kɔ so nkakrankakra paa. Nea efi mu ba ne sɛ wo mogya pii. Mogya a ɛtɔ yi dodow betumi ayɛ soronko wɔ onipa biara ho. Wɔ nnipa binom fam no, eyi betumi ayɛ mogya nketenkete a wobetumi adi ho dwuma wɔ fie. Wɔ afoforo fam no ebia emu yɛ den araa ma ebehia sɛ wɔsa yare ntɛm ara .

Glanzmann Thrombasthenia (GT) abu so dɛn?

Glanzmann Thrombasthenia (GT) yɛ tebea a ɛntaa nsi koraa ankasa. Sɛnea aduruyɛ ho abenfo kyerɛ no, nnipa ɔpepem biako biara mu biako pɛ na wɔwo saa yare yi.

Nanso, wɔ mpɔtam bi a wɔde saa awosu mu nsakrae yi fi awo ntoatoaso so kɔ foforo so no, dodow yi dɔɔso kakra. Ɛne sɛ, wɔ mpɔtam a ɛtete saa no, bɛyɛ nnipa mpem ahanu biara mu biako tumi hu tebea yi. Wɔbɔ amanneɛ sɛ nkokoaa dodow a wɔwo wɔn a wɔwɔ GT tebea yi mu no dɔɔso titiriw wɔ aman bi a ɛwɔ Mfinimfini Apuei, Newfoundland ne Labrador mantam mu wɔ Canada, ne Romanifo a wɔwɔ France no mu.

Dɛn ne Glanzmann Thrombasthenia (GT) ho sɛnkyerɛnne ahorow?

Sɛ wowɔ GT a, ebia mogya bɛtɔ wo asen sɛnea obi foforo bepira saa ara a. Anaasɛ ebia mogya befi ase atu wo mpofirim a ntease biara nni mu.

Glanzmann Thrombasthenia (GT) ho sɛnkyerɛnne atitiriw ne:

• Ɛnyɛ den koraa sɛ wobɛpira: Sɛ wobɔ akuturuku ketewaa bi mpo a, ebetumi ama woapirapira kɛse.
• Mogya a ɛretu wo sẽ: Wo sẽ betumi atu mogya ntɛm bere a worehohoro wo sẽ no.
• Mogya a ɛtaa tu fi hwene mu (epistaxis): Ebia nnipa binom benya mogya a ɛba wɔn hwene mu mpɛn pii dapɛn biara, mpo sɛ wogyina hɔ ara kwa.
• Nsonsonoe anaa nsensanee a ɛyɛ kɔkɔɔ wɔ honam ani (purpura): Eyinom yɛ soronko wɔ akuru a ɛtaa ba ho na ebetumi ayɛ nsensanee akɛse.
• Nsonsonoe nketenkete a ɛyɛ kɔkɔɔ, bruu, anaa kɔkɔɔ a ɛwɔ honam ani (petechiae): Eyinom yɛ nsensanee nketenkete a ɛte sɛ nea wɔde pin na ɛbɔɔ no.
• Menorrhagia: Mogya a ɛtɔ dodo bere a mmea rekɔ brayɛ mu: Mogya a ɛtɔ a emu yɛ duru sen sɛnea ɛte daa.

Wɔ GT mu no, mogya a ɛba nipadua no mu no ntaa mma koraa te sɛ mogya a efi honam ani kuru (te sɛ nea wɔatwa) anaa ntini a ɛwɔ nipadua no mu (te sɛ hwene anaa ano mu) mu ba.

Dɛn nti na Glanzmann Thrombasthenia (GT) ba? Dɛn na ɛde ba?

Nkokoaa a wɔwo wɔn a wɔwɔ Glanzmann Thrombasthenia (GT) no nya sintɔ anaa nkwaadɔm mu nsakrae , wɔ awosu mu abɔde a ɛma protein bi a wɔfrɛ no integrin alpha IIb/beta 3 a ɛboa ma mogya mu nkwammoaa a ɛtwetwe mogya no mu. Sɛ abofra benya GT a, ɛsɛ sɛ onya awosu mu abɔde a asɛe no fi ne maame ne ne papa nyinaa hɔ. Wɔfrɛ eyi sɛ autosomal recessive inheritance .

Mpɛn pii no, awofo nnim sɛ wɔyɛ awosu mu abɔde a asɛe yi kurafo. Nea enti a ɛte saa ne sɛ awosu mu nkwaadɔm abien a asɛe na ama wɔada yare no ho sɛnkyerɛnne adi. Carrier yɛ obi a ɔwɔ awosu mu abɔde biako a ɛfata ne awosu mu abɔde biako a asɛe.

Sɛ awofoɔ mmienu no nyinaa yɛ asoafoɔ a, wɔwɔ hokwan 25% sɛ wɔbɛwo abofra a ɔwɔ GT.

Akyiri yi Glanzmann Thrombasthenia (GT) a efi ase .

Nnipa binom betumi anya GT akyiri yi wɔ wɔn asetra mu. Eyi ho yɛ na koraa. Ɛwom mpo sɛ ebetumi aba de, nanso aduruyɛ ho abenfo da so ara bu Glanzmann Thrombasthenia (GT) sɛ mogyatɔw a wɔde awo obi .

Eyi ne sɛnea GT nyin akyiri yi, bere a wo nipadua no yɛ nnuru a ɛko tia integrin alpha IIb/beta 3 protein a yɛadi kan aka ho asɛm no. Nyarewa bi, nnuru bi mpo betumi de eyi aba. Nanso nea efi mu ba no yɛ ade koro. Esiane sɛ protein a ɛyɛ adwuma no nnɔɔso nti, egye bere tenten ansa na wo mogya mu nkwammoaa kɔkɔɔ no ayɛ mmerɛw.

Dɛn ne nsɛnnennen a ebetumi afi Glanzmann Thrombasthenia (GT) mu aba?

Mmea betumi anya mogya a ɛtɔ kɔ nipadua mu a dade nnim esiane mogya a ɛtɔ kɛse wɔ brayɛ mu nti. Wɔ tebea horow a emu yɛ den mu no, GT betumi ama mogya atɔ no denneennen a ɛde ne nkwa to asiane mu (mogya a ɛtɔ). Asiane yi yɛ kɛse titiriw wɔ mmere a mogya tu kɛse te sɛ awo anaa oprehyɛn mu.

Nanso mma ɛnhaw wo, sɛ wohu sɛ wowɔ GT a, wo duruyɛfo betumi ayɛ nneɛma a ɛho hia de asiw saa nsɛnnennen yi ano.

Wobɛyɛ dɛn ahu sɛ wowɔ Glanzmann Thrombasthenia (GT) anaa? (Nyare a Wɔahu) .

Nnuruyɛfo de nhwehwɛmu ahorow di dwuma de hu GT. Wɔtaa hu no wɔ mmofraase. Sɛ́ ɔwofo no, sɛ wo ba no twitwa ntɛmntɛm, mogya taa tu ne hwene mu, anaasɛ egye bere tenten ansa na mogya atɔ no a, ebia wobɛpɛ sɛ wode wo ba no kɔ oduruyɛfo nkyɛn. Ɛtɔ da bi a, wɔ mmerɛ a ɛho hia wɔ abofra asetena mu, sɛ nhwɛsoɔ no:

• Bere a wɔretwa abofra twetia no.
• Bere a akokoaa sẽ a edi kan no hwe ase no.
• Sɛ ɛyɛ abeawa a, ɛyɛ bere a odu ne bra a edi kan (menarche).

Saa bere yi de, ebia wubehu sɛ mogya retu dodo anaasɛ ɛretu. Nnipa bɛboro 80% a wɔwɔ Glanzmann Thrombasthenia (GT) no, wohu ansa na wɔadi mfe 14, na pii na wohu ansa na wɔadi mfe 5. Ebia nnipa a wohu sɛ wɔwɔ GT bere a wɔanyinyin no renhu sɛ wɔwɔ bi kosi sɛ wobepira kɛse anaa akwanhyia.

Sɔhwɛ ahorow bɛn na wɔreyɛ ama eyi?

Nnuruyɛfo de mogya mu nhwehwɛmu di dwuma de hu Glanzmann Thrombasthenia (GT). Saa sɔhwɛ ahorow yi betumi akyerɛ ɔhaw ahorow wɔ:

• Wo mogya mu nkwammoaa kɔkɔɔ: Mogya dodow (CBC) nhwehwɛmu a edi mũ betumi ahwɛ sɛ wo mogya mu nkwammoaa dodow yɛ nea ɛfata anaa. Mogya a wɔde srasra nipadua no akyi nso betumi ahwɛ sɛ ɛte sɛ nea ɛnyɛ ne kwan so anaa.
• Sɛnea wo mogya tu yiye: Nhwehwɛmu pii te sɛ Prothrombin Time (PT) nhwehwɛmu ne Partial Thromboplastin Time (PTT) nhwehwɛmu betumi ahwɛ sɛnea wo mogya tu ntɛmntɛm na ɛyɛ adwuma yiye. Eyinom nso betumi aboa ma wɔayi mogyatɔw a ɛtaa ba a ɛwɔ sɛnkyerɛnne a ɛte sɛ GT (e.g., von Willebrand yare, Bernard-Soulier syndrome) afi hɔ.
• Integrin alpha IIb/beta3: Sɔhwɛ te sɛ flow cytometry ne monoclonal antibody panels betumi akyerɛ sɛ ebia wowɔ protein yi a enni mu anaasɛ sintɔ bi. Wobetumi ahu nso sɛ ebia wowɔ nnuru a ɛko tia nyarewa a ɛtow hyɛ protein yi so anaa.
• Wo awosu mu nkwaadɔm: Awosu mu nhwehwɛmu betumi asi so dua sɛ ebia wowɔ awosu mu nsakrae (awosu mu nkwaadɔm a wɔfrɛ no `ITGA2B` ne `ITGB3`) a ɛde GT ba no.

Dɛn ne ayaresa a wɔde sa Glanzmann Thrombasthenia (GT)?

Sɛ wohu sɛ wowɔ GT a, wo duruyɛfo betu wo fo wɔ sɛnea wobɛtew mogya a ɛbɛtɔ wo so no ho. Ɛda adi sɛ ebehia sɛ wo ne mogya ho oduruyɛfo bi yɛ adwuma . Sɛ nneɛma a wubetumi ayɛ de asiw mogya a ɛbɛtɔ wo ano da nkyɛn a, ayaresa no begyina sɛnea wo mogya no mu yɛ den so.

Wɔ mogya a ɛtɔ nketenkete kosi nea ɛkɔ fam ho

Ayaresa a wɔde sa nsɛm a ɛtete saa ne:

• Compression: Wo duruyɛfo bɛkyerɛ wo sɛnea wode nhyɛso bɛba na ama mogya a ɛtɔ fi kuru bi mu no so atew na ama mogya nketenkete a ɛba hwene mu no agyae. Sɛ mogya tu kɛse wɔ hwene mu a, ebia wo duruyɛfo de biribi te sɛ gauze anaa foam bɛhyɛ wo hwene mu na ama mogya no agyae (nasal packing).
• Nnuru: Ebia wubehia nnuru te sɛ fibrin sealant (biribi te sɛ mogya mu gluu), gelatin foam, thrombin a wɔde gu nipadua no so, ne nnuru a ekum fibrinolytic na aboa ma mogya no akɔ.

Esiane mogya a ɛretu kɛse nti

Mogya a emu yɛ den a Glanzmann Thrombasthenia (GT) de ba no hwehwɛ sɛ wɔsa no ntɛm ara . Ayaresa ahorow no bi ne:

• Ntini mu mogya a wɔde ma: Ebia ebehia sɛ wɔma wo mogya mu nkwammoaa a ɛma mogya tu kɛse na ama mogya a ɛretu kɛse no agyae, anaasɛ na amma mogya antɔ ansa na wɔayɛ oprehyɛn kɛse anaa awo. Nea ɛka eyi ho ne sɛ wɔbɛma wo mogya nkwammoaa a efi obi a ɔwɔ apɔwmuden hɔ.
• Mogya mu nkwammoaa kɔkɔɔ a wɔde ma: Sɛ woahwere mogya pii dedaw a, wobetumi ama wo mogya mu nkwammoaa kɔkɔɔ nso de ahyɛ saa dodow no mu ma.
• Recombinant coagulation factor VIIa (rFVIIa): Ebia aduru yi ho behia sɛ womfata sɛ wɔde mogya mu nkwammoaa kɔkɔɔ ma a.
• Hematopoietic stem cell transplant: Ntini mu nkwammoaa a wɔde si ananmu nkutoo ne ayaresa a ebetumi asa GT. Ebia eyi yɛ ɔkwan a wobetumi afa so ama GT a emu yɛ den a wontumi mfa akwan foforo so nni so. Wɔ eyi mu no, wɔde ntini mu nkwammoaa a efi obi a ɔde ma no mu gu wo nipadua mu.

So nsɛnnennen bi wɔ ayaresa no mu?

Yiw, ampa. Nnipa a wonya mogya mu nkwammoaa kɔkɔɔ no mu 20% kosi 30% nya nnuru a ɛko tia wɔn bere tenten. Eyi kyerɛ sɛ mogya mu nkwammoaa foforo a wonya no rentumi nyɛ adwuma. Sɛ ɛba saa a, ɛsɛ sɛ wokɔ ayaresa foforo te sɛ rFVIIa injection. Nanso saa aduru no nso wɔ asiane ahorow bi. Sɛ nhwɛso no, ebetumi ama wo mogya atɔ dodo.

Ɛwom sɛ ntini mu nkwammoaa a wɔde si ananmu betumi asa Glanzmann Thrombasthenia (GT) de, nanso sɛ wubenya obi a ɔfata wo nipadua no betumi ayɛ asɛnnennen. Wɔ stem cell a wɔde ma GT mu no, wɔn a wɔde ma no taa yɛ anuanom. Sɛ wohu nea ɛne no hyia mpo a, asiane wɔ hɔ sɛ wo nipadua no bɛpow nkwammoaa a wɔde ma no. Wɔfrɛ saa tebea yi Graft versus Host Disease (GvHD) .

Sɛ wo duruyɛfo ne wo kasa fa ayaresa a wubetumi apaw ho a, obedi kan akyerɛkyerɛ asiane ne mfaso a ɛwɔ so no mu.

Daakye bɛn na obi a ɔwɔ GT betumi ahwɛ kwan?

Nnipa baanu biara nni hɔ a wɔwɔ Glanzmann Thrombasthenia (GT), sɛ wofi abusua biako mu mpo na wɔn awosu mu nsakrae koro mpo a, ɛsono sɛnea wohu yare no. Mogya dodow a ɛretu wo ne nea ɛsɛ sɛ woyɛ de di wo tebea no ho dwuma no begyina wo tebea pɔtee no so.

Asɛmpa no ne sɛ, sɛ wɔhwɛ so yiye a, nnipa dodow no ara a wɔwɔ Glanzmann Thrombasthenia (GT) no tra ase sɛnea ɛsɛ a wɔn nkwa nna yɛ nea ɛfata. Wɔ tebea horow bi mu no, mogya a ɛba no so betumi atew mpo bere a wɔrenyin no.

Mɛyɛ dɛn atumi ne GT atra ase yiye? (Sɛnea mɛhwɛ me ho)

Sɛ wowɔ GT a, wo ne wo duruyɛfo nyɛ adwuma na ama asiane a ɛwɔ hɔ sɛ mogya bɛtɔ wo ne mogya a ɛbɛtɔ wo kɛse no so atew. Ɛsɛ sɛ woyɛ saa nneɛma yi:

• Hu nnuru a ɛnsɛ sɛ wonom no pɛpɛɛpɛ.Akyinnye biara nni ho sɛ twe wo ho fi nnuru a ɛma mogya yɛ mmerɛw (te sɛ aspirin ne NSAID afoforo) ne nnuru afoforo a wo duruyɛfo aka akyerɛ wo sɛ nnom no ho.
• Hwɛ w’ano akwahosan yiye. Wo sẽ a wobɛhohoro na wode nhama abɔ wo sẽ da biara, ne wo sẽ ho oduruyɛfo a wobɛkɔ akɔhwɛ wo daa no betumi aboa ma asiane a ɛwɔ hɔ sɛ mogya bɛtu wo sẽ no so atew.
• Hwɛ wo hwene nso yiye. Sɛ wo hwene mu yɛ nwini a, ebetumi aboa ma asiane a ɛwɔ hɔ sɛ mogya bɛtɔ wo hwene mu no so atew. Wubetumi de humidifier adi dwuma, de aduru a wɔde petepete hwene mu adi dwuma, anaasɛ wode Vaseline kakra ahyɛ wo hwene mu na amma anyow.
• Di mogya a ɛtɔ kɛse wɔ brayɛ mu no ho dwuma. Sɛ wɔde hormone awo ano aduru di dwuma a, ebetumi aboa ma wɔasiw nna a emu yɛ duru ano. Wo ne wo mmea ho ɔyaresafo nka eyi ho asɛm.
• Hyɛ medic alert bracelet. Fa ID krataa ka wo ho bere nyinaa sɛnea ɛbɛyɛ a wubetumi akyerɛ sɛ wowɔ mogyatɔw yare bi wɔ tebea a egye ntɛmpɛ mu. Ebetumi agye wo nkwa.
• Yɛ nhyehyɛe ma nea wobɛyɛ sɛ mogya tu wo a. Hu bere a ɛsɛ sɛ wosa wɔ fie ne bere a ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn ntɛm ara. Hu onii a wo ne no bɛkasa ne baabi a wobɛkɔ. Saa kwan no so no, ɛrenka akyi dodo sɛ wobenya ayaresa.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wo anaa wo ba no reda sɛnkyerɛnne ahorow adi sɛ mogya retu ntɛm a, kɔ oduruyɛfo nkyɛn. Akuru ne hwene mu mogya abu so. Nanso sɛ saa nsɛnkyerɛnne yi taa ba, anaasɛ mogya a ɛretu no gye bere tenten ansa na agyae a – akyinnye biara nni ho sɛ kɔ oduruyɛfo nkyɛn.

Bere bɛn na ɛsɛ sɛ wokɔ Emergency Treatment Unit (ETU) ?

Sɛ mogya retu wo a wuntumi nnyae, a mogya a ɛba wo brayɛ mu kɛse ka ho a, kɔ dwumadibea a wɔhwɛ ntɛmpɛ so (ETU) tẽẽ a wonnyɛ nhyehyɛe sɛ wobɛkɔ oduruyɛfo nkyɛn. Nsɛnkyerɛnne a ɛsɛ sɛ yɛhwɛ yiye wɔ ho bi ne:

• Mogya a ɛba hwene mu a ennyae dɔnhwerew biako.
• Brayɛ mu nsu a emu yɛ duru a ɛkyɛ nnɔnhwerew abien anaa nea ɛboro saa, na ɛma tampon abien anaa pads abien yɛ nsu dɔnhwerew biara anaa nea ɛboro saa.

Nsɛmmisa a ɛho hia a ɛsɛ sɛ wubisa wo duruyɛfo

Mma wo werɛ mmfi sɛ wubebisa nsɛm te sɛ eyinom:

• Nhwehwɛmu bɛn na ɛsɛ sɛ wɔyɛ de hu me tebea no?
• Ayaresa bɛn na mihia?
• Asetra mu nsakrae bɛn na metumi ayɛ de adi me tebea no ho dwuma?
• Hokwan bɛn na ɛwɔ hɔ sɛ me ba no benya GT tebea yi afi awo mu?
• So wokamfo kyerɛ sɛ wɔnyɛ awosu mu nhwehwɛmu sɛ meresusuw ho sɛ mɛnyinsɛn a?

So mogya nkwammoaa dodow yɛ nea ɛfata wɔ nnipa a wɔwɔ GT mu?

Mpɛn pii no, mogya nkwammoaa dodow a ɛkɔ nipadua no mu no yɛ nea ɛfata wɔ Glanzmann Thrombasthenia (GT) mu.Ɛnyɛ mogya nkwammoaa dodow a ɛwɔ ɔhaw no mu. Mmom no, ɛyɛ ɔhaw a ɛwɔ protein a ɛboa ma mogya nkwammoaa no bata ho, na ɛmma mogya nkwammoaa ntumi nkɔ yiye no ho.

Nsonsonoe bɛn na ɛda Glanzmann Thrombasthenia (GT) ne Bernard-Soulier yare (BSS) ntam?

Glanzmann Thrombasthenia (GT) ne Bernard-Soulier syndrome (BSS) nyinaa yɛ awosu mu tebea horow a ɛntaa nsi a ɛka ɔkwan a wo mogya tu no. Nanso awosu mu nkwaadɔm mu nsakrae ahorow na ɛde ba. Ɔhaw pɔtee a ɛwɔ wo mogya mu nkwammoaa mu no nso yɛ soronko. Ebia nnipa a wɔwɔ BSS no mogya nkwammoaa dodow a ɛba fam ne mogya nkwammoaa a ɛsõ wɔ ɔkwan a ɛnteɛ so nyinaa.

Nneɛma a ɛho hia sen biara a ɛsɛ sɛ yɛkae fi nea yɛaka ho asɛm no mu (Take-Home Message) .

Glanzmann Thrombasthenia (GT) yɛ nkwa nna nyinaa tebea a ɛsɛ sɛ wo ne wo mogya ho ɔyaresafo hwɛ so yiye. Sɛ wode GT di dwuma a, ɔkwan biara nni hɔ a wobɛfa so akyerɛ sɛnea wo mogya no bɛyɛ kɛse (anaasɛ ketewaa bi). Nanso, sɛ woyɛ nneɛma bi a ɛbɛma mogya atɔ wo so atew a, ebetumi aboa ma woanya apɔwmuden. Sɛ wo GT mu yɛ den a, ayaresa te sɛ mogya nkwammoaa a wɔde ma nso betumi aboa.

Bere a wuntumi nni awo a wobɛwo wo a wowɔ saa tebea yi so no, kae sɛ wowɔ akwan horow a wobɛfa so adi ho dwuma wɔ ɔkwan a ɛrensiw w’asetra kwan so. Nsuro sɛ wobɛhwehwɛ aduruyɛ mu afotu na woahwɛ wo ho. Afei akyinnye biara nni ho sɛ wubetumi ne tebea yi atra ase yiye.

` Glanzmann thrombasthenia, GT, mogya a ɛtɔ, mogya mu nkwammoaa a ɛma mogya tu, awosu mu nyarewa, akuru, mogya a ɛtɔ, mogya mu nkwammoaa a ɛma mogya tu