So wowɔ ɔhaw bi wɔ wo mogya mu nkwammoaa a ɛma mogya tu no ho? Momma yensua ‘May-Hegglin Anomaly’ no ho ade!

So woate edin ‘May-Hegglin Anomaly’ no ho asɛm pɛn? Ebia ɛnte saa. Efisɛ eyi yɛ nea ɛntaa nsi mmom, kyerɛ sɛ, awosu mu tebea a wɔntaa nhu koraa. Nanso so ɛnsɛ sɛ wosuro bere a wote saa din yi? Ɛnnɛ, momma yɛnka eyi ho asɛm tiawa, wɔ ɔkwan a wubetumi ate ase so. Efisɛ eyi a wubehu no betumi ayɛ nea ɛho hia paa.

Dɛn ne ‘May-Hegglin Anomaly’ yi?

Sɛ yɛbɛka no tiawa a, May-Hegglin Anomaly yɛ tebea a nsakrae ketewaa bi a ɛba w’awosu mu (awosu mu nkwaadɔm mu nsakrae) na ɛde ba. Eyi ma wo nipadua no yɛ mogya mu nkwammoaa nketenkete a ɛyɛ mogya mu nkwammoaa nketenkete a yɛfrɛ no mogya mu nkwammoaa a ɛsõ kakra na ɛnyɛ nea ɛsɛ sɛ ɛyɛ no. Wɔfrɛ mogya nkwammoaa a ɛso tew yi wɔ aduruyɛ mu sɛ thrombocytopenia.

Afei ebia woresusuw nea ɛto saa mogya nkwammoaa yi ho. Fa no sɛ wowɔ kuru ketewaa bi. Afei mogya nkwammoaa yi boa ma mogya no gyae. Wɔyɛ mogya a ɛtɔ na ɛma mogya no gyae. Enti, obi a ɔwɔ ‘May-Hegglin Anomaly’, esiane sɛ saa mogya nkwammoaa yi yɛ akɛse na ɛyɛ nketewa wɔ ɔkwan a ɛnteɛ so nti, ɛtɔ mmere bi a obetumi apirapira anaasɛ mogya atu no ntɛmntɛm sen onipa a ɔte ase. Mogya a ɛte saa (kyerɛ sɛ, ``mogya a ɛtɔ'') nso betumi akɔ soro wɔ oprehyɛn kɛse akyi.

Nanso biribi a ɛsɛ sɛ yɛma ɛtra yɛn adwenem ni: Nnipa pii a wɔwɔ saa tebea yi nkyerɛ yare no ho sɛnkyerɛnne biara. Anaasɛ, ɛmfa ɔhaw akɛse biara mma. Nanso, sɛ́ wowɔ sɛnkyerɛnne ahorow anaasɛ wunni bi no, ɛho hia sɛ wuhu sɛ wowɔ May-Hegglin Anomaly. Afei wo ne wo nnuruyɛfo betumi ayɛ nneɛma a ɛho hia de abɔ wo ho ban afi akwanhyia ne mogya a ɛbɛtɔ ho.

So su atitiriw abiɛsa wɔ hɔ a ɛkyerɛ ‘May-Hegglin Anomaly’?

Yiw, nneɛma atitiriw abiɛsa na nnuruyɛfo hwehwɛ na ama wɔahu tebea yi pɛpɛɛpɛ. Eyi ne nea yɛfrɛ no ‘triad’. Ɛne sɛ, nneɛma abiɛsa a ɛda nsow.

Wɔne:

• Ntini mu nkwammoaa akɛse a ɛnyɛ ne kwan so a obi wɔ: Yɛfrɛ eyi macrothrombocytopenia.
• Mprɛte dodow a ɛso tew: Eyi ne tebea a yɛadi kan aka ho asɛm a wɔfrɛ no thrombocytopenia.
• Ebia wubehu nneɛma nketenkete a ɛte sɛ poma a wɔfrɛ no Döhle nipadua wɔ wo leukocytes, mogya mu nkwammoaa fitaa bi mu. Döhle nipadua ahorow yi yɛ soronko.

Nnuruyɛfo betumi ahu nsonsonoe a ɛda May-Hegglin Anomaly ne nyarewa afoforo a ɛka mogya nkwammoaa a ɛma mogya tu no ntam denam su abiɛsa yi a wɔbɛhwehwɛ so.

Saa tebea yi abu so dɛn? Anaasɛ ɛho yɛ na?

‘May-Hegglin Anomaly’ no yɛ tebea a ɛntaa nsi koraa.Sɛnea aduruyɛ mu nhwehwɛmu amanneɛbɔ kyerɛ no, nnipa a wɔanya bi no nnu 200 wɔ wiase nyinaa. Wo de susuw sɛnea ɛno ho yɛ na no ho hwɛ! Esiane sɛ ɛntaa nsi nti, nnuruyɛfo taa gye akyinnye mfiase no. Ebia ɛho behia sɛ wo duruyɛfo no pow tebea afoforo pii a ebetumi aka wo mogya nkwammoaa mu ntini ansa na waka sɛ wowɔ May-Hegglin Anomaly.

Dɛn ne ‘May-Hegglin Anomaly’ ho sɛnkyerɛnne?

Sɛnea yɛadi kan aka no, nnipa dodow no ara a wɔwɔ saa tebea yi nhu sɛnkyerɛnne titiriw biara. Nea enti a ɛte saa ne sɛ mogya mu nkwammoaa a ɛdɔɔso wɔ wɔn nipadua mu a ɛbɛma mogya antɔ wɔn dodo. Nanso, sɛ wuhu yare no ho sɛnkyerɛnne ahorow a, ebegyina sɛnea wo mogya mu nkwammoaa kɔkɔɔ dodow sua so kɛse.

Eyinom ne sɛnkyerɛnne ahorow a wobetumi ahu wɔ ɔkwan a ɛkɔ akyiri so:

• Akuru ne mogya a ɛbɛtɔ ntɛmntɛm. Sɛ wodan bruu bere a woabɔ no ketewaa bi mpo akyi, anaasɛ wobɛgye bere kakra ansa na mogya atɔ wo wɔ baabi ketewaa bi mpo.
• Mogya a ɛtaa tu fi hwene mu. Nnipa binom frɛ eyi `(epistaxis)`.
• Mogya a ɛretu wɔ anom. Eyi betumi asi bere a worehohoro wo sẽ no.
• Wɔ mmea fam no, mogya a ɛtɔ dodo bere a wɔrekɔ brayɛ mu. Wɔsan frɛ eyi `(menorrhagia)`.
• Nsonsonoe kɔkɔɔ, kɔkɔɔ, anaa bruu wɔ honam ani. Wɔfrɛ eyinom ``purpura''.
• Mogya a ɛtɔ kɛse wɔ oprehyɛn akyi, bere a wɔayiyi sẽ, anaa bere a wɔawo akokoaa akyi.

Nea ɛho hia ne sɛ, nsuro sɛ wubesusuw sɛ wowɔ May-Hegglin Anomaly esiane sɛ wowɔ saa sɛnkyerɛnne ahorow yi mu biako anaa abien nti. Eyinom nso betumi afi tebea afoforo mu aba. Enti ɛyɛ papa sɛ wobɛhwehwɛ aduruyɛ mu afotu.

Dɛn na ɛde ‘May-Hegglin Anomaly’ no ba?

May-Hegglin Anomaly yɛ awosu mu yare a wunya fi w’awofo no mu biako hɔ. Yɛwɔ gene bi a wɔfrɛ no `MYH9` wɔ yɛn nipadua mu. Nsakraeɛ ketewa bi a ɛba wɔ saa `MYH9` awosuo mu abɔdeɛ yi mu nie, kyerɛ sɛ, `nsakraeɛ`, a ɛno ne adeɛ titire a ɛde yei ba. Esiane saa awosu mu nkwaadɔm mu nsakrae yi nti, ɔhaw ahorow sɔre wɔ ɔkwan a wɔfa so hyehyɛ mogya nkwammoaa no mu. Ɛno nti na wɔhyehyɛ no akɛse a ɛnyɛ ne kwan so no. Afei nso, esiane saa `MYH9` awosu mu nkwaadɔm mu nsakrae yi nti, mogya nkwammoaa dodow nso so tew. Ɛno nti na wubetumi apirapira na mogya atu wo ntɛm no.

Yɛfrɛ May-Hegglin Anomaly agyapade nhyehyɛe no sɛ autosomal dominant nhyehyɛe. Eyi kyerɛ sɛ ɛsɛ sɛ wunya MYH9 awosu mu abɔde a wɔayɛ no foforo no biako pɛ na ama woanya tebea no. Wei kyerɛ sɛ sɛ wo maame anaa wo papa wɔ mutation no a, wowɔ hokwan 50% sɛ wobɛnya bi.

Ɔkwan bɛn so na wobetumi ahu May-Hegglin Anomaly no?

Mpɛn pii no, wohu May-Hegglin Anomaly no wɔ akwanhyia mu bere a wɔreyɛ mogya mu nhwehwɛmu esiane biribi foforo nti. Nnuruyɛfo susuw sɛ ɛyɛ bere a mogya mu nhwehwɛmu aba kyerɛ sɛ mogya nkwammoaa a ɛwɔ mogya mu no sua anaasɛ mogya mu nkwammoaa a ɛdɔɔso no. Sɛ nhwɛso no, wobetumi ahu eyi bere a wɔreyɛ mogya mu nhwehwɛmu daa bere a wɔyem no mpo.

Sɔhwɛ ahorow pii wɔ hɔ a wobetumi de akyerɛ sɛ wowɔ May-Hegglin Anomaly no anaa:

• Mogya Dodow a Edi Mu (CBC): Saa ``(CBC)`` nhwehwɛmu yi betumi ahwɛ sɛ wo mogya nkwammoaa dodow sua anaa. Wɔ tebea yi mu no, mpɛn pii no mogya nkwammoaa dodow betumi ayɛ 40,000 kosi 80,000 wɔ mogya microliter biara mu. Ɛtɔ mmere bi mpo a ebetumi ayɛ nea ɛfata. Kae sɛ, mpɛn pii no yebu no sɛ ``ɛba fam'' sɛ mogya nkwammoaa dodow nnu 150,000 wɔ mogya microliter biara mu a.
• Peripheral Blood Smear (PBS): Saa PBS nhwehwɛmu yi betumi ahwɛ wo mogya nkwammoaa dodow. Ɛsan nso hwɛ sɛ saa nneɛma a ɛte sɛ poma a wɔfrɛ no Döhle nipadua ahorow a yɛadi kan aka ho asɛm no wɔ wo mogya mu nkwammoaa mu.
• Awosu mu nhwehwɛmu: Saa sɔhwɛ yi betumi asi so dua sɛ ebia wowɔ nkwaadɔm mu nsakrae wɔ wo `MYH9` awosu mu nkwaadɔm mu anaa.

Nea ɛka ho no, wo duruyɛfo no bɛhwehwɛ sɛnkyerɛnne afoforo a ɛkyerɛ sɛ mogya nkwammoaa a ɛwɔ mogya mu no so tew, te sɛ bere a mogya tu no kɔ soro.

Ɔkwan bɛn so na wɔsa May-Hegglin Anomaly?

Nokwarem no, nnipa dodow no ara a wɔwɔ May-Hegglin Anomaly no nnya yare no ho sɛnkyerɛnne a emu yɛ den araa ma ɛho behia sɛ wɔsa wɔn yare. Ɛno yɛ ahotɔ ankasa, ɛnte saa? Nanso, sɛ ɛsɛ sɛ woyɛ oprehyɛn a, ebia ɛho behia sɛ wo duruyɛfo yɛ ahwɛyiye kɛse na amma mogya antɔ wo dodo. Sɛ nhwɛso no, wobetumi de aduru bi a wɔfrɛ no desmopressin ahyɛ ntini mu ansa na wɔayɛ oprehyɛn na ama mogya a ɛbɛtɔ no so atew, anaasɛ wɔde mogya mu nkwammoaa a ɛma mogya tu no bɛma.

Sɛ mogya tu wo boro so, te sɛ akwanhyia mu a, ebia ebehia sɛ wɔma wo mogya mu nkwammoaa a ɛma mogya mu nkwammoaa a ɛsan ba.

Sɛ woanyinsɛn a, akyinnye biara nni ho sɛ wubehia sɛ wɔhwɛ wo so bio. Mmea dodow no ara a wɔwɔ May-Hegglin Anomaly no wo nkokoaa a wɔwɔ apɔwmuden a ɔhaw biara nni ho. Nanso, tebea biara a ɛma mogya tu no yɛ nea asiane wom wɔ nyinsɛn mu. Enti, wo awo ne mmea ho oduruyɛfo betu wo fo wɔ nea ɛsɛ sɛ woyɛ de bɔ wo ho ne wo ba a ɔhyɛ yafunu mu no ho ban. Ɛho hia paa sɛ yedi saa akwankyerɛ ahorow no akyi.

Dɛn na ɛsɛ sɛ yɛhwɛ kwan bere a wo ne ‘May-Hegglin Anomaly’ no te?

May-Hegglin Anomaly yɛ tebea a ɛba nkwa nna nyinaa mu. Ɛyɛ nokware.Nanso, nea eye ne sɛ, wɔ nnipa dodow no ara fam no, eyi mfa ɔhaw kɛse biara mma wɔn da biara da asetra mu. Nnipa pii a wɔwɔ saa tebea yi nni sɛnkyerɛnne biara, anaasɛ sɛnkyerɛnne a emu nyɛ den koraa nkutoo. Sɛ mogya mu nkwammoaa a ɛwɔ wo mogya mu no sua na worehyia ɔhaw ahorow a, wo duruyɛfo bɛtu wo fo wɔ akwan a wobɛfa so asiw mogya a wobɛtɔ so sɛ wopira a. Enti biribiara nni hɔ a ɛsɛ sɛ ɛhaw yɛn ho.

So wobetumi asiw ‘May-Hegglin Anomaly’ no ano?

Nokwarem no, biribiara nni hɔ a wubetumi ayɛ de asiw May-Hegglin Anomaly ano. Eyi yɛ awosu mu tebea. Nanso, sɛ woreyɛ nhyehyɛe sɛ wobɛwo ba, titiriw sɛ wo anaa wo hokafo wɔ yare no a, ɛbɛyɛ papa sɛ wo ne awosu ho ɔfotufo bi bɛkasa. Sɛ wo anaa wo hokafoɔ wɔ May-Hegglin Anomaly a, wo ba no wɔ hokwan 50% sɛ ɔbɛnya tebea no.

Awosu ho ɔfotufo betumi asusuw asiane biara a ebia wowɔ ho na watu wo fo wɔ akwan horow a wubetumi apaw ho. Ɛno betumi ayɛ mmoa kɛse.

Mɛyɛ dɛn ahwɛ me ho? (Ne ho a wɔhwɛ) .

Sɛ wuhu sɛ wowɔ May-Hegglin Anomaly a, nneɛma a eye sen biara a wubetumi ayɛ no mu biako ne sɛ wo ne wo duruyɛfo bɛkasa afa sɛnea wubedi tebea no ho dwuma ho. Ɛho hia sɛ wohu nneɛma yi:

• Hwɛ yiye wɔ nnuru a wode di dwuma ho: Nnuru bi betumi aka sɛnea wo mogya mu nkwammoaa kɔkɔɔ no yɛ adwuma. Enti, hwehwɛ nnuru pɔtee a epira wo, ɔkwan a wobɛfa so akwati, anaa ɔkwan a wobɛfa so anom no dodow a ahobammɔ wom. Mfa nnuru biara nni dwuma a wommisa wo duruyɛfo.
• Kɔ so tew w’ano yiye: Sɛ wohwɛ w’ano ahotew yiye a, ebetumi aboa ma woasiw mogya a ɛbɛtɔ wo anom. Ɛyɛ papa nso sɛ wobɛkɔ akɔhwɛ wo sẽ ho oduruyɛfo daa.
• Hwɛ yiye wɔ dwumadi ahorow a ebetumi ama obi apirapira ho: Hwɛ yiye paa bere a woredi agumadi a ebetumi ama obi apirapira (sɛ nhwɛso no, agumadi a wɔde di nkitaho). Ebia ebehia mpo sɛ wokwati wɔn. Wo ne wo duruyɛfo nka eyi nso ho asɛm.
• Hu asiane a ɛwɔ nyinsɛn mu: Sɛnea ɛbɛyɛ a wobɛkwati ɔhaw ahorow wɔ wo nyinsɛn mu esiane ‘May-Hegglin Anomaly’ nti no, hwɛ w’akwahosan so na wo ne wo awo ne mmea ho oduruyɛfo nyɛ adwuma yiye.

Dɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Nsɛmmisa bi a ɛsɛ sɛ wubisa wo duruyɛfo sɛ wuhu sɛ wowɔ May-Hegglin Anomaly a, ni:

• "Oduruyɛfo, me mogya nkwammoaa a enni hɔ (thrombocytopenia) no mu yɛ den dɛn?"
• "Bere bɛn na ɛsɛ sɛ ɛhaw me sɛ me mogya nkwammoaa dodow a ɛbɛkɔ fam?"
• "Nsɛnkyerɛnne bɛn na ɛsɛ sɛ mehwɛ yiye wɔ ho titiriw?"
• "Nsakrae bɛn na ɛsɛ sɛ meyɛ wɔ me da biara da asetra mu na ama matumi adi tebea yi ho dwuma?"
• "So ɛyɛ adwene pa sɛ me ne me hokafo no benya awosu mu afotu?"

Nsuro da sɛ wubebisa nsɛm te sɛ eyinom. Ɛho hia yiye sɛ wuyi adwenem naayɛ biara a ebia wowɔ no fi hɔ.

So nyarewa afoforo bi wɔ hɔ a ɛne `MYH9` awosu mu abɔde no wɔ abusuabɔ?

Yiw, May-Hegglin Anomaly yɛ nyarewa kuw bi a ɛne MYH9 awosu mu abɔde no wɔ abusuabɔ. MYH9 awosu mu nkwaadɔm mu nsakrae bi na ɛde nyarewa yi nyinaa ba. Nhwehwɛmu ada no adi sɛ, May-Hegglin Anomaly akyi no, tebea afoforo abiɛsa a ɛma mogya nkwammoaa a ɛnyɛ ne kwan so ne mogya nkwammoaa dodow a ɛba fam nso fi nkwaadɔm mu nsakrae a ɛba MYH9 awosu mu abɔde mu. Mmiɛnsa a aka no ne:

• Epstein yare a ɛma obi nya ɔyare no
• Fechtner yare a ɛma obi nya ɔyare no
• Sebastian yare a ɛma obi nya ɔyare no

Esiane sɛ saa nyarewa yi nyinaa ne wɔn ho wɔn ho wɔ abusuabɔ kɛse, na esiane sɛ ne nyinaa wɔ ade koro nti, ebetumi aba sɛ bere kɔ so no, saa din ahorow a ɛsono emu biara yi befi hɔ, na wɔbɛka ne nyinaa abom sɛ "MYH9-fam nyarewa."

Enti, dɛn ne ade a ɛho hia sen biara a ɛsɛ sɛ yɛkae fi saa asɛm yi mu? (Nkrasɛm a Wɔde Kɔ Fie)

May-Hegglin Anomaly yɛ tebea a ɛfa mogya nkwammoaa akɛse a ɛnyɛ ne kwan so ne mogya nkwammoaa a ɛba fam ho. Nanso, ɛnkyerɛ ankasa sɛ wubehyia ɔhaw akɛse. Wɔ tebea yi mu no, pii gyina sɛnea wo mogya mu nkwammoaa kɔkɔɔ dodow sua so. Nnipa dodow no ara a wɔwɔ saa tebea yi wɔ mogya mu nkwammoaa a ɛdɔɔso a ɛbɛma mogya a ɛbɛtɔ wɔn kɛse. Ebia afoforo nso wɔ asiane mu sɛ mogya bɛtɔ wɔn dodo.

Enti, nea ɛho hia sen biara ne sɛ wo ne wo duruyɛfo bɛkasa, ate ahwɛyiye a ɛsɛ sɛ woyɛ na ama mogya a ɛbɛtɔ wo no so atew no ase pɛpɛɛpɛ, na woayɛ w’ade sɛnea ɛfata. Ade a ehia paa ne sɛ ɛnsɛ sɛ yesuro, yɛbɛbɔ yɛn amanneɛ, na yɛadi aduruyɛ mu afotu akyi. Akwahosan pa ma wo!

` May-Hegglin Anomaly, mogya nkwammoaa, thrombocytopenia, MYH9 awosu mu abɔde, mogya a ɛtɔ, awosu mu nyarewa, mogya mu nyarewa