Ingabe unenkinga ngama-platelet akho egazi? Ake sifunde nge-'May-Hegglin Anomaly'!

Wake wezwa ngegama elithi 'May-Hegglin Anomaly'? Mhlawumbe akunjalo. Ngoba lesi yisimo esingavamile, okungukuthi, isimo sofuzo esibonakala kaningi. Kodwa akufanele yini wesabe uma uzwa leli gama? Namuhla, ake sixoxe ngalokhu kalula, ngendlela ongayiqonda. Ngoba ukuqaphela lokhu kungaba kubaluleke kakhulu.

Kuyini lokhu 'okungavamile kukaMeyi-Hegglin'?

Kalula nje, i-May-Hegglin Anomaly yisimo esibangelwa ushintsho oluncane kuma-gene akho (ukuguquka kwezakhi zofuzo). Lokhu kubangela ukuthi umzimba wakho ukhiqize ama-platelet, angamaseli amancane egazi esiwabiza ngokuthi ama-platelet, amakhulu kancane futhi akhiqiza amancane kunalokho okufanele akwenze. Lokhu kwehla kwama-platelet kwaziwa ngokwezokwelapha ngokuthi i-thrombocytopenia.

Manje ungase uzibuze ukuthi kwenzekani kula ma-platelet. Cabanga ukuthi unenxeba elincane. Lawa ma-platelet asiza ekumiseni ukuphuma kwegazi. Akha ihlule legazi futhi amise ukuphuma kwegazi. Ngakho-ke, umuntu one-'May-Hegglin Anomaly', ngoba la ma-platelet makhulu ngendlela engavamile futhi mancane ngobukhulu, ngezinye izikhathi angaphuka noma ophe igazi kalula kunomuntu ojwayelekile. Ukopha okunjalo (okungukuthi, "ukopha kwegazi") kunganda nangemva kokuhlinzwa okukhulu.

Kodwa nansi into okufanele uyikhumbule: Abantu abaningi abanalesi simo ababonisi zimpawu. Noma, asibangeli zinkinga ezinkulu. Kodwa, kungakhathaliseki ukuthi unezimpawu noma cha, kubalulekile ukwazi ukuthi une-May-Hegglin Anomaly. Khona-ke wena nodokotela bakho ningathatha izinyathelo ezidingekayo zokuzivikela ezingozini nasekuphumeni kwegazi.

Ingabe kukhona izici ezintathu eziyinhloko ezikhomba i-'May-Hegglin Anomaly'?

Yebo, kunezinto ezintathu eziyinhloko odokotela abazibhekayo ukuze baxilonge lesi simo ngokunembile. Yilokhu esikubiza ngokuthi 'unxantathu'. Okusho ukuthi, izici ezintathu ezihlukile.

Kunjalo:

• Ukuba nama-platelet amakhulu ngendlela engavamile: Lokhu sikubiza ngokuthi i-macrothrombocytopenia.
• Ukwehla kwenani lama-platelet: Lesi yisimo esikhulume ngaso ngaphambilini esibizwa ngokuthi i-thrombocytopenia.
• Ungase ubone izakhiwo ezincane, ezimise okwenduku ezibizwa ngokuthi imizimba ye-Döhle ngaphakathi kwama-leukocyte akho, uhlobo lweseli elimhlophe legazi. Le mizimba ye-Döhle ikhethekile.

Odokotela bangahlukanisa i-May-Hegglin Anomaly kwezinye izifo ezithinta ama-platelet ngokubheka lezi zici ezintathu.

Ingabe lesi simo sivame kangakanani? Noma asivamile?

I-'May-Hegglin Anomaly' iyisimo esingavamile kakhulu.Ngokusho kwemibiko yocwaningo lwezokwelapha, kunezimo ezingaphansi kuka-200 emhlabeni jikelele. Cabanga ukuthi lokho kungavamile kangakanani! Ngenxa yokuthi kungavamile, odokotela bavame ukungabaza ekuqaleni. Udokotela wakho kungase kudingeke akhiphe ezinye izimo eziningana ezingathinta ama-platelet akho ngaphambi kokuphetha ngokuthi une-May-Hegglin Anomaly.

Ziyini izimpawu ze-'May-Hegglin Anomaly'?

Njengoba sishilo ekuqaleni, abantu abaningi abanalesi simo ababi nazo izimpawu ezinkulu. Lokhu kungenxa yokuthi banama-platelet anele emizimbeni yabo ukuvimbela ukuphuma kwegazi ngokweqile. Kodwa-ke, uma uhlangabezana nezimpawu, zizoncika kakhulu ekutheni inani lama-platelet akho liphansi kangakanani.

Lezi yizimpawu ezingabonakala ngokujwayelekile:

• Ukuphuka nokuphuma kwegazi kalula. Kuphenduka kube luhlaza okwesibhakabhaka ngisho nangemva kokuqhuma okuncane, noma kuthatha isikhathi ukuyeka ukuphuma kwegazi ngisho noma kuphuma esilondeni esincane.
• Ukopha kwamakhala okuvamile. Abanye abantu bakubiza lokhu ngokuthi `(epistaxis)`.
• Izinsini eziphuma igazi. Lokhu kungenzeka uma uxubha amazinyo akho.
• Kwabesifazane, ukopha ngokweqile ngesikhathi sokuya esikhathini. Lokhu kubizwa nangokuthi `(menorrhagia)`.
• Amabala abomvu, onsomi, noma ansundu esikhumbeni. Lawa abizwa ngokuthi "i-purpura".
• Ukopha okukhulu ngemva kokuhlinzwa, lapho kukhishwa amazinyo, noma ngemva kokubeletha umntwana.

Into ebalulekile ukuthi, ungesabi ukucabanga ukuthi une-May-Hegglin Anomaly ngoba nje unesinye noma ezimbili zalezi zimpawu. Lokhu kungabangelwa nayizinye izimo. Ngakho-ke kungcono ukufuna iseluleko sezokwelapha.

Yini ebangela i-'May-Hegglin Anomaly'?

I-May-Hegglin Anomaly yisimo sofuzo osizuza njengefa komunye wabazali bakho. Sine-gene ebizwa ngokuthi i-'MYH9' emzimbeni wethu. Nansi ushintsho oluncane oluvela kule gene ye-'MYH9', okungukuthi, 'ukuguqulwa', okuyimbangela eyinhloko yalokhu. Ngenxa yalokhu kuguqulwa kwezakhi zofuzo, kuvela izinkinga endleleni ama-platelet akheka ngayo. Yingakho akheka ngezimo ezinkulu, ezingavamile. Futhi, ngenxa yalokhu kuguqulwa kwezakhi zofuzo kwe-'MYH9', inani lama-platelet nalo liyancishiswa. Yingakho ungaphuka futhi wophe kalula.

Sibiza iphethini yefa likaMay-Hegglin Anomaly ngokuthi iphethini elawulayo ye-autosomal. Lokhu kusho ukuthi udinga ikhophi eyodwa kuphela yejini le-MYH9 eliguquliwe ukuze uthole lesi simo. Lokhu kusho ukuthi uma umama noma ubaba wakho enalesi shintsho, unethuba elingu-50% lokusizuza njengefa.

Ungakubona kanjani ukuba khona kwe-'May-Hegglin Anomaly'?

Esikhathini esiningi, i-May-Hegglin Anomaly itholakala ngengozi ngesikhathi sokuhlolwa kwegazi okwenziwe ngesizathu esithile. Odokotela basola ukuthi lokhu kwenzeka lapho imiphumela yokuhlolwa kwegazi ibonisa ukubalwa kwama-platelet aphansi noma ukubalwa kwama-platelet aphezulu. Isibonelo, lokhu kungatholakala ngisho nangesikhathi sokuhlolwa kwegazi okuvamile ngesikhathi sokukhulelwa.

Kunezivivinyo eziningana ezingasetshenziswa ukuthola ukuthi une-May-Hegglin Anomaly:

• Ukubalwa Kwegazi Okuphelele (CBC): Lokhu kuhlolwa kwe-``(CBC)`` kungahlola ukuthi inani lama-platelet akho liphansi yini. Kulesi simo, inani lama-platelet ngokuvamile lingaba phakathi kuka-40,000 no-80,000 nge-microliter ngayinye yegazi. Ngezinye izikhathi kungaba yinto evamile. Khumbula, ngokuvamile sicabanga ukuthi ``phansi'' uma inani lama-platelet lingaphansi kuka-150,000 nge-microliter ngayinye yegazi.
• I-Peripheral Blood Smear (PBS): Lokhu kuhlolwa kwe-PBS kungahlola inani lama-platelet akho. Kuhlola nokuba khona kwalezo zakhiwo ezifana nezinduku ezibizwa ngokuthi imizimba ye-Döhle, esikhulume ngazo ngaphambili, kuma-leukocyte akho.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kungaqinisekisa ukuthi unayo yini inguquko ku-gene yakho ethi 'MYH9'.

Ngaphezu kwalokho, udokotela wakho uzobheka ezinye izimpawu zama-platelet aphansi, njengokwanda kwesikhathi sokuphuma kwegazi.

Iphathwa kanjani i-May-Hegglin Anomaly?

Eqinisweni, abantu abaningi abane-May-Hegglin Anomaly ababi nezimpawu ezinkulu ngokwanele ukuthi badinge ukwelashwa. Lokho kuyimpumuzo yangempela, akunjalo? Kodwa-ke, uma kufanele uhlinzwe, udokotela wakho kungadingeka athathe izinyathelo ezengeziwe zokuvimbela ukopha ngokweqile. Isibonelo, umuthi obizwa ngokuthi i-desmopressin unganikezwa ngemithambo yegazi ngaphambi kokuhlinzwa ukuze kuncishiswe ingozi yokopha, noma kunganikezwa ukumpontshelwa ama-platelet.

Uma wopha kakhulu, njengasengozini, ungase udinge ukumpontshelwa ama-platelet ukuze ubuyisele amazinga akho e-platelet.

Uma ukhulelwe, uzodinga ukubhekwa okwengeziwe. Iningi labesifazane abane-May-Hegglin Anomaly bazala izingane ezinempilo ngaphandle kwezinkinga. Kodwa-ke, noma yisiphi isimo esandisa ingozi yokopha siyingozi ngesikhathi sokukhulelwa. Ngakho-ke, udokotela wakho wezifo zabesifazane kanye nodokotela wezifo zabesifazane bazokweluleka ngalokho okufanele ukwenze ukuze uzivikele wena kanye nomntwana wakho ongakazalwa. Kubaluleke kakhulu ukulandela leyo miyalelo.

Yini ongayilindela uma uphila ne-'May-Hegglin Anomaly'?

I-May-Hegglin Anomaly iyisimo esihlala isikhathi eside. Kuyiqiniso.Kodwa, ngenhlanhla, kubantu abaningi, lokhu akubangeli ukuphazamiseka okukhulu empilweni yabo yansuku zonke. Abantu abaningi abanalesi simo abanazo izimpawu, noma izimpawu ezincane kakhulu. Uma inani lama-platelet akho liphansi futhi unezinkinga, udokotela wakho uzokweluleka ngezindlela zokulawula ukopha uma ulimala. Ngakho-ke akukho okufanele ukhathazeke ngakho.

Ingabe i-'May-Hegglin Anomaly' ingavinjelwa?

Eqinisweni, akukho ongakwenza ukuvimbela i-May-Hegglin Anomaly. Lesi yisimo sofuzo. Kodwa-ke, uma uhlela ukuba nomntwana, ikakhulukazi uma wena noma umlingani wakho ninalesi simo, kuwumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo. Uma wena noma umlingani wakho nine-May-Hegglin Anomaly, ingane yakho inethuba elingu-50% lokuthola lesi simo njengefa.

Umeluleki wezakhi zofuzo angahlola noma yiziphi izingozi ongase ube nazo futhi akunikeze iseluleko ngezinketho zakho. Lokho kungaba usizo olukhulu.

Ngizinakekela kanjani? (Ukuzinakekela)

Uma uthola ukuthi une-May-Hegglin Anomaly, enye yezinto ezinhle kakhulu ongayenza ukukhuluma nodokotela wakho mayelana nendlela yokuphatha lesi simo. Kubalulekile ukuqaphela lezi zinto:

• Qaphela imithi: Eminye imithi ingathinta ukusebenza kwama-platelet akho. Ngakho-ke, thola ukuthi yimiphi imithi eyingozi kuwe, ukuthi ungayigwema kanjani, noma ukuthi ungayithatha kanjani ngemithamo ephephile. Ungasebenzisi noma yimuphi umuthi ngaphandle kokubuza udokotela wakho.
• Gcina inhlanzeko yomlomo enhle: Ukunakekela inhlanzeko yomlomo wakho kungasiza ekuvimbeleni ukuphuma kwegazi ezinsinini. Kungumqondo omuhle futhi ukubona udokotela wamazinyo njalo.
• Qaphela ngemisebenzi engabangela ukulimala: Qaphela kakhulu lapho udlala imidlalo engabangela ukulimala (isibonelo, imidlalo yokuxhumana). Kungase kudingeke ukuthi uyigweme. Khuluma nodokotela wakho ngalokhu futhi.
• Qaphela izingozi ngesikhathi sokukhulelwa: Ukuze ugweme izinkinga ngesikhathi sokukhulelwa kwakho ngenxa ye-'May-Hegglin Anomaly', qapha impilo yakho futhi usebenzisane eduze nodokotela wakho wezifo zabesifazane kanye nodokotela wezifo zabesifazane.

Yini okufanele ngiyibuze udokotela wami?

Nansi eminye imibuzo okufanele uyibuze udokotela wakho uma uthola ukuthi une-May-Hegglin Anomaly:

• "Dokotela, ukuntuleka kwami ​​​​kweplatelet kukhulu kangakanani (i-thrombocytopenia)?"
• "Kunini lapho kufanele ngikhathazeke khona ngokwehla kwenani lama-platelet ami?"
• "Yiziphi izimpawu okufanele ngiziqaphele ngokukhethekile?"
• "Yiziphi izinguquko okudingeka ngizenze empilweni yami yansuku zonke ukuze ngiphathe lesi simo?"
• "Ingabe kungumqondo omuhle ukuthi mina nomlingani wami sithole ukwelulekwa ngofuzo?"

Ungesabi ukubuza imibuzo efana nale. Kubaluleke kakhulu ukususa noma yikuphi ukungabaza ongase ube nakho.

Ingabe zikhona ezinye izifo ezihlobene ne-'MYH9' gene?

Yebo, i-May-Hegglin Anomaly iyiqembu lezifo ezihlobene ne-MYH9 gene. Zonke lezi zifo zibangelwa ukuguquka kwezakhi zofuzo ze-MYH9. Ucwaningo luthole ukuthi, ngaphezu kwe-May-Hegglin Anomaly, ezinye izimo ezintathu ezibangela ama-platelet angajwayelekile kanye nokubalwa kwama-platelet aphansi nazo zibangelwa ukuguquka kwezakhi zofuzo ze-MYH9. Ezinye ezintathu yilezi:

• I-Epstein syndrome
• Isifo se-Fechtner
• Isifo sikaSebastian

Ngenxa yokuthi zonke lezi zifo zihlobene kakhulu, futhi ngenxa yokuthi zonke zinembangela efanayo, kungenzeka ukuthi ngokuhamba kwesikhathi la magama ahlukene azonyamalala, futhi wonke azobizwa ngokuthi "izifo ezihlobene ne-MYH9."

Ngakho-ke, yini into ebaluleke kakhulu okufanele siyikhumbule kule ndaba? (Umyalezo Ofanele Uwuthathe Ekhaya)

I-May-Hegglin Anomaly yisimo esihilela ama-platelet amakhulu ngokungavamile kanye nokubalwa kwama-platelet aphansi. Kodwa-ke, akusho ukuthi uzoba nezinkinga ezinkulu. Ngalesi simo, okuningi kuncike ekutheni inani lama-platelet akho liphansi kangakanani. Iningi labantu abanalesi simo linama-platelet anele ukuvimbela ukopha okukhulu. Abanye bangase babe sengozini yokopha ngokweqile.

Ngakho-ke, into ebaluleke kakhulu ukukhuluma nodokotela wakho, uqonde kahle ukuthi yiziphi izinyathelo zokuphepha okudingeka uzithathe ukuze unciphise ingozi yokopha, bese wenza ngokufanele. Into ebaluleke kakhulu ukungesabi, ukwaziswa, nokulandela iseluleko sezokwelapha. Impilo enhle kuwe!

I- May-Hegglin Anomaly, ama-platelet, i-thrombocytopenia, i-MYH9 gene, ukopha kwegazi, izifo zofuzo, izifo zegazi