He raruraru tōu ki ō pereti toto? Me ako tātou mō te 'May-Hegglin Anomaly'!

Kua rongo kē koe i te ingoa 'May-Hegglin Anomaly'? Kāore pea. Nā te mea he tino onge tēnei, arā, he mate ira e kitea ana i roto i te tinana, he mea tino onge. Engari kaua e mataku ina rongo koe i tēnei ingoa? I tēnei rā, me kōrero noa tātou mō tēnei mea, i roto i tētahi huarahi e mārama ai koe. Nā te mea he mea tino nui te mōhio ki tēnei.

He aha tēnei 'Anomaly o Mei-Hegglin'?

Ki te whakarapopototanga, ko te May-Hegglin Anomaly he āhuatanga i puta mai i tētahi panonitanga iti o ō ira (he whakarerekētanga ira). Mā tēnei ka puta he pereti toto iti i roto i tō tinana, arā, he pūtau toto iti e kiia nei e tātou he pereti toto, he nui ake, ā, he iti iho i te mea e tika ana. Ko tēnei hekenga o ngā pereti toto e mōhiotia ana i roto i te rongoā ko te thrombocytopenia.

Inaianei, tera pea koe e whakaaro ana he aha te mea ka pā ki ēnei pereti toto. Whakaarohia he patunga iti tōu. Kātahi ka āwhina ēnei pereti toto ki te aukati i te toto. Ka hanga he toto totoka, ka aukati i te toto. Nō reira, ko te tangata whai 'May-Hegglin Anomaly', nā te mea he nui rawa, he iti hoki te rahi o ēnei pereti toto, ka tere ake te maru, te toto rānei i te tangata noa. Ka piki ake pea taua toto (arā, he 'toto toto') i muri i te pokanga nui.

Engari anei tētahi mea hei maumahara: He tokomaha ngā tāngata e pāngia ana e tēnei mate kāore e whakaatu i tētahi tohu. Kāore rānei e puta he raruraru nui. Ahakoa he tohu āu, he mea nui kia mōhio koe kei a koe te May-Hegglin Anomaly. Kātahi ka taea e koe me ō tākuta te mahi i ngā mahi e tika ana hei tiaki i a koe mai i ngā aituā me te toto.

E toru ngā āhuatanga matua e tautuhi ana i te 'Anomaly o May-Hegglin'?

Ae, e toru ngā mea matua e tirohia ana e ngā tākuta hei tātaritanga tika i tēnei mate. Koinei te mea e kiia nei e mātou ko te 'toru'. Arā, e toru ngā āhuatanga motuhake.

Ko rātou ēnei:

• He nui rawa ngā pereti toto: Ka kiia tēnei he macrothrombocytopenia.
• Te hekenga o te maha o ngā pereti toto: Koinei te āhua i kōrerotia i mua ake nei, e kiia nei ko te thrombocytopenia.
• Tērā pea ka kite koe i ngā hanganga iti, āhua tokotoko e kiia nei ko ngā tinana Döhle i roto i ō leukocyte, he momo pūtau toto mā. He motuhake ēnei tinana Döhle.

Ka taea e ngā tākuta te wehewehe i te May-Hegglin Anomaly mai i ētahi atu mate e pā ana ki ngā platelets mā te rapu i ēnei āhuatanga e toru.

He pēhea te noa o tēnei mate? He onge rānei?

He tino onge te mate 'May-Hegglin Anomaly'.E ai ki ngā pūrongo rangahau hauora, he iti iho i te 200 ngā kēhi puta noa i te ao. Whakaarohia te onge o tēnā! Nā te mea he onge rawa, he maha ngā wā ka ruarua ngā tākuta i te tīmatanga. Me whakakore pea e tō tākuta ētahi atu āhuatanga e pā ana ki ō pereti toto i mua i te whakatau he May-Hegglin Anomaly tōu.

He aha ngā tohu o te 'Anomaly May-Hegglin'?

E ai ki tā mātou i kōrero ai i mua ake nei, ko te nuinga o te hunga e pāngia ana e tēnei mate kāore e pāngia e ngā tohu nui. Nā te mea he nui ngā pereti toto i roto i ō rātou tinana hei ārai i te toto nui. Heoi, ki te pāngia koe e ngā tohu, ka whakawhirinaki nui ki te iti o te maha o ō pereti toto.

Koinei ngā tohu ka kitea whānuitia:

• He marō me te ngawari o te toto. Ka huri kikorangi ahakoa he puku iti, ka roa rānei te wā e mutu ai te toto ahakoa he motu iti.
• Te toto ihu auau. E kīia ana tēnei e ētahi he `(epistaxis)`.
• Te toto o ngā kapia. Ka pā tēnei ki a koe ina parai koe i ō niho.
• Mō ngā wāhine, he nui te toto i te wā paheketanga. Ka kiia hoki tēnei ko te `(menorrhagia)`.
• He whero, he papura, he parauri rānei ngā ira i runga i te kiri. Ka kiia ēnei he "purpura".
• Te toto nui i muri i te pokanga, i te tangohanga o ngā niho, i muri rānei i te whānautanga o te pēpi.

Ko te mea nui, kaua e wehi ki te whakaaro kei a koe te May-Hegglin Anomaly nā te mea kei a koe tētahi, e rua rānei o ēnei tohu. Tērā pea ka puta mai ēnei i ētahi atu āhuatanga. Nō reira, he pai ake te rapu tohutohu hauora.

He aha te take o te 'Anomaly May-Hegglin'?

Ko te May-Hegglin Anomaly he mate ira e riro mai ana i tētahi o ō mātua. Kei roto i tō tātou tinana he ira e kiia nei ko `MYH9`. Anei tētahi huringa iti e puta ana i roto i tēnei ira `MYH9`, arā, he `whakarerekētanga`, koinei te tino take o tēnei. Nā tēnei whakarerekētanga ira, ka puta he raruraru i roto i te āhua o te hanganga o ngā pereti toto. Koia te take i hangaia ai rātou i roto i ngā āhua nunui, rerekē. Waihoki, nā tēnei whakarerekētanga ira `MYH9`, ka whakaitihia hoki te maha o ngā pereti toto. Koia te take ka taea e koe te maru me te toto ngāwari.

Ka kiia e mātou te tauira tuku iho o te May-Hegglin Anomaly he tauira autosomal dominant. Ko te tikanga o tēnei, kotahi noa te kape o te ira MYH9 kua whakarerekētia hei whiwhi i te mate. Ko te tikanga o tēnei, mēnā kei tō whaea, kei tō pāpā rānei te whakarerekētanga, e 50% te tūponotanga ka riro mai i a koe.

Me pēhea te kite i te Anomaly May-Hegglin?

I te nuinga o te wā, ka kitea te May-Hegglin Anomaly i roto i te whakamātautau toto mō tētahi atu take. Ka whakapaehia tēnei e ngā tākuta ina whakaatuhia e ngā hua o te whakamātautau toto he iti te maha o ngā pereti toto, he nui rānei te maha o ngā pereti toto. Hei tauira, ka kitea pea tēnei ahakoa i roto i te whakamātautau toto noa i te wā e hapu ana.

He maha ngā whakamātautau ka taea te whakamahi hei whakatau mēnā kei a koe te Anomaly May-Hegglin:

• Tatau Toto Katoa (CBC): Mā tēnei whakamātautau "(CBC)" ka taea te tirotiro mēnā he iti te tatau o tō pereti toto. I tēnei āhuatanga, ko te tatau o ngā pereti toto ka noho i waenga i te 40,000 me te 80,000 i ia maikororita o te toto. I ētahi wā ka noho noa iho. Kia mahara, i te nuinga o te wā ka kiia he "iti" mēnā he iti iho te tatau o ngā pereti toto i te 150,000 i ia maikororita o te toto.
• Te Whakamātautau Toto Āpiti (PBS): Ka taea e tēnei whakamātautau PBS te tirotiro i te maha o ō pereti toto. Ka tirohia hoki te aroaro o aua hanganga rite ki te tokotoko e kiia nei ko ngā tinana Döhle, i kōrerohia e tātou i mua ake nei, i roto i ō pūtau toto.
• Ngā whakamātautau ira: Ka taea e tēnei whakamātautau te whakaū mēnā he whakarerekētanga ira kei roto i tō ira 'MYH9'.

Hei tāpiritanga, ka rapu tō tākuta i ētahi atu tohu o te iti o ngā pereti toto, pērā i te roa o te wā toto.

Me pēhea te rongoā i te Anomaly May-Hegglin?

Ina hoki, ko te nuinga o te hunga whai mate May-Hegglin Anomaly kāore e puta he tohu kino rawa atu hei hiahia maimoatanga. He tino whakamarie tēnā, kāore? Heoi, ki te mea me pokanga koe, me mahi pea tō tākuta i ētahi atu mahi ārai hei ārai i te toto nui. Hei tauira, ka taea te hoatu he rongoā e kiia nei ko te desmopressin mā roto i te uaua i mua i te pokanga hei whakaiti i te tūponotanga o te toto, ka taea rānei te hoatu he whakawhiti toto ki te toto.

Mena ka nui rawa tō toto e totohu ana, pērā i tētahi aituā, ka hiahia pea koe ki te whakawhiti toto ki te pereti toto hei whakahoki mai i ngā taumata o ō pereti toto.

Mena kei te hapu koe, me tino aroturukitia anō koe. Ko te nuinga o ngā wāhine whai mate pukupuku May-Hegglin ka whānau he pēpi hauora, kāore he raruraru. Heoi, he morearea tetahi āhuatanga e whakanui ana i te mōrearea o te toto i te wā e hapu ana. Nō reira, ka tohutohu tō tākuta whānau me tō tākuta wahine i a koe mō te aha hei mahi hei tiaki i a koe me tō pēpi kāore anō kia whānau. He mea tino nui kia whai i aua tohutohu.

He aha ngā mea hei tumanako atu māu ina noho tahi koe me te 'May-Hegglin Anomaly'?

He mate mō te wā katoa te May-Hegglin Anomaly. He pono.Engari, waimarie, mō te nuinga o te tangata, kāore tēnei e whakararuraru nui i ō rātou oranga o ia rā. He tokomaha te hunga whai mate pēnei kāore he tohu, he tohu ngawari noa iho rānei. Mena he iti tō tau pereti toto, ā, kei te raru koe, ka tohutohu tō tākuta i a koe ki ngā huarahi hei whakahaere i te toto mena ka whara koe. Nō reira, kāore he mea hei manukanuka.

Ka taea te ārai i te 'Anomaly May-Hegglin'?

Ina hoki, kāore he mea ka taea e koe te mahi hei ārai i te Anomaly May-Hegglin. He mate ira tēnei. Heoi, ki te mea kei te whakaaro koe kia whānau he tamaiti, inā koa mēnā kei a koe, kei tō hoa rānei tēnei mate, he mea pai kia kōrero koe ki tētahi kaitohutohu ira. Mēnā kei a koe, kei tō hoa rānei tēnei mate, e 50% te tūponotanga ka riro mai i tō tamaiti tēnei mate.

Ka taea e te kaitohutohu ira te aromatawai i ngā mōrearea ka pā mai ki a koe, me te tuku tohutohu ki a koe mō ō whiringa. He āwhina nui tēnā.

Me pēhea taku tiaki i ahau anō? (Te tiaki i ahau anō)

Ki te kitea e koe kei a koe te May-Hegglin Anomaly, ko tētahi o ngā mea pai rawa atu māu ko te kōrero ki tō tākuta mō te whakahaere i te mate. He mea nui kia mōhio koe ki ēnei mea:

• Kia tūpato ki ngā rongoā: Ka pā pea ētahi rongoā ki te mahi a ō pereti toto. Nō reira, kimihia ko ēhea ngā rongoā e kino ana ki a koe, me pēhea te karo i aua rongoā, me pēhea rānei te tango i aua rongoā i roto i ngā horopeta haumaru. Kaua e whakamahi i tētahi rongoā me te kore e pātai ki tō tākuta.
• Kia mau ki te akuaku o te waha: Mā te tiaki pai i tō akuaku o te waha ka āwhina i te ārai i te toto o ngā kapia. He mea pai hoki kia toro atu ki te tākuta niho i ia wā.
• Kia tūpato ki ngā mahi ka whara: Kia tino tūpato i te wā e takaro ana i ngā hākinakina ka whara (hei tauira, ngā hākinakina pā). Me karo pea koe i aua mea. Kōrero atu ki tō tākuta mō tēnei.
• Kia tūpato ki ngā mōrearea i te wā e hapu ana: Hei karo i ngā raruraru i te wā e hapu ana koe nā te 'May-Hegglin Anomaly', aroturukihia tō hauora, me te mahi tahi me tō tākuta whānau me tō tākuta wahine.

He aha taku e pātai atu ai ki taku tākuta?

Anei ētahi pātai hei pātai atu ki tō tākuta mēnā ka kitea e koe he mate pāwera koe, arā, ko te May-Hegglin Anomaly:

• "E te tākuta, he pēhea te kaha o te ngoikore o taku pereti toto (thrombocytopenia)?"
• "Āhea ahau me āwangawanga mō te hekenga o te maha o aku pereti toto?"
• "He aha ngā tohu e tika ana kia tino tirohia e au?"
• "He aha ngā huringa me mahi e au i ia rā hei whakahaere i tēnei āhuatanga?"
• "He mea pai kia whiwhi māua ko taku hoa i te tohutohu ira?"

Kaua e wehi ki te pātai i ēnei pātai. He mea tino nui kia whakamāramahia ō feaa katoa.

He mate anō kei te hono atu ki te ira `MYH9`?

Āe, ko te May-Hegglin Anomaly he rōpū mate e pā ana ki te ira MYH9. Ko ēnei mate katoa i puta mai i te whakarerekētanga ira i roto i te ira MYH9. Kua kitea e ngā rangahau, i tua atu i te May-Hegglin Anomaly, e toru atu ngā āhuatanga e hua ai te nui o ngā pereti toto rerekē me te iti o te maha o ngā pereti toto i puta mai i ngā whakarerekētanga ira i roto i te ira MYH9. Ko ētahi atu e toru ko:

• Te mate Epstein
• Te mate Fechtner
• Te mate a Sebastian

Nā te mea he tino hononga tata ēnei mate katoa tetahi ki tetahi, ā, nā te mea he rite tonu te take o ēnei mate katoa, tera pea ka ngaro atu ēnei ingoa motuhake i roto i te wā, ā, ka karangatia katoatia ēnei ko ngā "mate e pā ana ki te MYH9".

Nā, he aha te mea tino nui hei maumahara mā tātou i tēnei pūrākau? (Karere hei tango ki te kāinga)

Ko te May-Hegglin Anomaly he mate e pā ana ki te nui rawa o ngā pereti toto me te iti o te maha o ngā pereti toto. Heoi, ehara i te mea ka pāngia koe e ngā raruraru nui. Mō tēnei mate, he nui te whakawhirinaki ki te iti o te maha o ō pereti toto. Ko te nuinga o te hunga whai mate pēnei he nui ā rātou pereti toto hei ārai i te toto nui. Ko ētahi atu ka tūpono pea ki te toto nui rawa.

Nō reira, ko te mea nui ko te kōrero ki tō tākuta, kia mārama ki ngā mahi ārai e tika ana kia mahia e koe hei whakaiti i te tūponotanga o te toto, me te mahi i runga i tēnā. Ko te mea nui ko te kaua e mataku, kia mōhio, me te whai i ngā tohutohu a te rata. Kia ora koe!

` May-Hegglin Anomaly, platelets, thrombocytopenia, ira MYH9, toto, mate ira, mate toto