I thisen platelet-ah harsatna i nei em? ‘May-Hegglin Anomaly’ chungchang hi i zir dawn teh ang!

‘May-Hegglin Anomaly’ tih hming hi i hre tawh em? A ni lo mai thei. A chhan chu hei hi thil awm lo deuh, chu chu genetic condition hmuh tur awm lo tak a nih vang a ni. Mahse, he hming i hriat hian i hlauthawng tur a ni lo maw? Vawiin hian he thu hi awlsam takin, i hriatthiam theih dan tur angin sawi ila. A chhan chu hei hi hriat chian hi a pawimawh hle thei a ni.

He ‘May-Hegglin Anomaly’ hi eng nge ni?

A awlsam zawngin sawi ila, May-Hegglin Anomaly hi i genes inthlak danglamna tlemte (genetic mutation) avanga lo awm a ni. Hei hian i taksain platelet a siam a, chu chu thisen cell te tak te, platelet kan tih te hi a ni a, a lian deuh a, a siam tur aia tlem a siam chhuak thin. Hetianga platelet tlahniam hi damdawi lam chuan thrombocytopenia tia hriat a ni.

Tunah chuan heng platelet te hi engtin nge an awm tih i ngaihtuah mai thei. Hliam te tak te i nei tih han ngaihtuah teh. Tichuan heng platelet te hian thisen chhuah tihtawp nan an pui thin. Thisen zam an siam a, thisen chhuah chu an titawp a ni. Chuvangin, ‘May-Hegglin Anomaly’ vei chuan heng platelet te hi a lian lo va, a lian lo hle a, a chang chuan mi pangngai aiin a hliam emaw thisen a chhuak awlsam zawk thei bawk. Chutiang thisen chhuahna (chu chu ``hemorrhage'' tihna a ni) chu operation lian tak hnuah pawh a pung thei bawk.

Mahse hei hi hriat reng tur a ni: Hetiang natna vei tam tak hian symptom an nei lo. A nih loh leh, harsatna lian tham a thlen lo. Mahse, symptom i nei emaw nei lo emaw, May-Hegglin Anomaly i nei tih hriat a pawimawh. Tichuan, nang leh i doctor-te chuan accident leh thisen chhuah laka inven nan a tul angin hma i la thei ang.

‘May-Hegglin Anomaly’ hriat theihna tur mizia lian pathum a awm em?

Ni e, he natna hi dik taka hriat theih nan doctor-te’n thil pawimawh pathum an zawn a ni. Hei hi ‘triad’ kan tih chu a ni. Chu chu mizia pathum a ni.

Anni chu:

• Platelet lian lo tak tak neih: Hei hi macrothrombocytopenia kan ti a.
• Platelet count tlahniam: Hei hi a hmaa kan sawi tawh, thrombocytopenia an tih chu a ni.
• I thisen var chi khat, thisen var chi khat, i leukocytes chhungah hian Döhle body an tih, tiang ang chi thil te tak te i hmu mai thei. Heng Döhle taksa te hi a danglam bik hle.

Doctor-te chuan May-Hegglin Anomaly hi platelet tichhe thei natna dang aiin an thliar hrang thei a, heng mizia pathumte hi an zawng chhuak thei a ni.

Hetiang dinhmun hi engtiang chiahin nge a awm? Nge a tlem em?

‘May-Hegglin Anomaly’ hi a awm lo hle.Medical research report-a a lan danin khawvel pumah hri kai hi 200 aia tlem lo an ni. Chu chu a tlem zia hi han ngaihtuah teh! A tlem em avangin doctor-te chuan a tir lamah an ringhlel fo thin. I doctor chuan May-Hegglin Anomaly i nei tih a sawi hmain i platelet tichhe thei thil dang engemaw zat a paih chhuah a ngai mai thei.

‘May-Hegglin Anomaly’ natna lan chhuah dan chu engte nge ni?

Kan sawi tawh ang khan he natna vei tam zawk hian symptom lian tham an nei lo. Hei hi an taksaah thisen chhuah tam lutuk tur venna tur platelet an neih tlem vang a ni. Mahse, symptoms i neih chuan i platelet count a hniam danah a innghat nasa hle ang.

Hengte hi a tlangpuiin a lan chhuah dan chu a ni:

• Bruising leh thisen chhuah awlsam. Bump te tak te hnuah pawh blue-a inthlak, emaw, cut te tak te atanga pawh thisen chhuah tihtawp nan hun engemaw chen hman.
• Hnar thisen chhuak fo thin. Mi thenkhat chuan hei hi `(epistaxis)` an ti thin.
• Gums thisen chhuak. Hei hi ha i sil hian a thleng thei.
• Hmeichhia tan chuan thlasik laiin thisen chhuah tam lutuk. Hei hi `(menorrhagia)` an ti bawk.
• Vunah hian a sen, a sen emaw, a sen emaw a awm. Chungte chu ``purpura'' an ti a.
• Operation hnua thisen chhuak nasa tak, ha lakchhuah lai emaw, naute neih hnua thisen chhuak nasa tak a chhuak thin.

A pawimawh ber chu, heng symptom pakhat emaw pahnih emaw i neih vang mai mai hian May-Hegglin Anomaly i nei tih ngaihtuah hlau suh. Hengte hi dinhmun dang vang pawh a ni thei. Chuvangin damdawi lam thurawn lak a tha ber.

Eng thilin nge ‘May-Hegglin Anomaly’ hi a thlen?

May-Hegglin Anomaly hi i nu leh pa zinga pakhat hnen atanga i rochun genetic condition a ni. Kan taksaah hian `MYH9` tih gene kan nei a. Hetah hian he `MYH9` gene-a inthlak danglamna tlemte, chu chu `mutation` a ni a, chu chu hei hi a chhan ber a ni. He gene mutation avang hian platelet siam danah harsatna a awm thin. Chuvang chuan lian tak, pianphung pangngai lo tak takah an lo piang a ni. Tin, he `MYH9` gene mutation avang hian platelet pawh a tlahniam bawk. Chuvang chuan awlsam takin i hliam thei a, thisen a chhuak thei bawk.

May-Hegglin Anomaly inheritance pattern hi autosomal dominant pattern kan ti a. Hei hian a awmzia chu condition i neih theih nan mutated MYH9 gene copy pakhat chauh i neih a ngai tihna a ni. Chumi awmzia chu i nu emaw i pa emaw pawhin mutation hi a neih chuan 50% in rochun theihna chance i nei tihna a ni.

Engtin nge ‘May-Hegglin Anomaly’ a awm leh awm loh kan hriat theih ang?

A tam zawkah chuan May-Hegglin Anomaly hi chhan dang avanga thisen test an tih laiin accident-in hmuhchhuah a ni. Doctor-te chuan thisen test result-a platelet count hniam emaw, platelet count sang emaw a lan chuan an ringhlel a ni. Entirnan, naupai laiin thisen test pangngaiah pawh hei hi hriat theih a ni.

May-Hegglin Anomaly i neih leh neih loh hriat theihna tur test engemaw zat a awm a:

• Complete Blood Count (CBC): He ``(CBC)`` test hian i platelet count a hniam em tih a enfiah thei a ni. Hetiang dinhmunah hian thisen microliter khatah platelet count hi a tlangpuiin 40,000 leh 80,000 inkar a ni thei. A chang chuan thil pangngai pawh a ni thei. Hriat tur chu, a tlangpuiin thisen microliter khatah platelet count 150,000 aia tlem a nih chuan ``low'' kan ti thin.
• Peripheral Blood Smear (PBS): He PBS test hian i platelet count a enfiah thei a ni. Tin, chutiang rod ang chi Döhle body an tih, a hmaa kan sawi tawh kha i leukocyte-ah a awm leh awm loh a enfiah bawk.
• Genetic tests: He test hian i `MYH9` gene-ah mutation i nei em tih a nemnghet thei a ni.

Chu bakah, i doctor chuan platelet tlahniam chhinchhiahna dang, thisen chhuah hun tam zawk a zawng ang.

May-Hegglin Anomaly hi engtin nge enkawl a nih?

Dik tak chuan May-Hegglin Anomaly vei tam zawk hian enkawl ngai khawpa natna lanchhuahna an nei lo. Chu chu thlamuanna tak a ni lawm ni? Mahse, operation i neih a ngai a nih chuan thisen chhuah tam lutuk loh nan i doctor hian fimkhur zual a ngai mai thei. Entîr nân, thisen chhuah hlauhawmna tihziaawmna tûrin operation hmain desmopressin an tih damdawi chu thisenah pêk a ni thei a, a nih loh leh platelet pek a ni thei bawk.

Thisen chhuah tam lutuk, accident ang chi, i platelet level siam that leh nan platelet transfusion i mamawh mai thei.

Naupai i nih chuan additional monitoring i mamawh ngei ang. May-Hegglin Anomaly vei hmeichhia tam zawk chuan harsatna nei lovin naute hrisel tak tak an hring thin. Mahse, thisen chhuah theihna tipung thei dinhmun eng pawh hi naupai laiin a hlauhawm hle. Chuvangin i obstetrician leh gynecologist chuan nangmah leh i nausen piang lai venhimna atana i tih tur chu a rawn hrilh ang che. Chu thupekte chu zawm a pawimawh hle.

‘May-Hegglin Anomaly’ nena kan nun hian eng nge beisei tur?

May-Hegglin Anomaly hi dam chhung zawnga natna awm thei a ni. A dik a ni.Mahse, vanneihthlak takin mi tam zawk tan chuan hei hian an nitin nunah harsatna lian tham a thlen lo. Hetiang natna vei tam tak hian symptoms an nei lo va, a nih loh leh symptoms na lo tak tak chauh an nei. I platelet count a tlem a, harsatna i neih chuan i doctor chuan hliam i neih chuan thisen chhuahna control dan tur a hrilh ang che. Chuvangin ngaihtuahawm tur a awm lo.

‘May-Hegglin Anomaly’ hi a veng thei ang em?

Dik tak chuan May-Hegglin Anomaly venna tur hian engmah tih theih a awm lo. Hei hi genetic condition a ni. Mahse, fa neih i tum a nih chuan, a bik takin nangmah emaw, i kawppui emaw hian he natna hi i nei a nih chuan genetic counselor nena inbiakna neih a tha. Nangmah emaw i kawppui emaw hian May-Hegglin Anomaly i nei a nih chuan i fa hian 50% in he natna hi a rochun theihna chance a nei a ni.

Genetic counselor chuan i hlauhawmna eng pawh a zirchiang thei a, i duhthlan turte pawh a fuih thei bawk. Chu chu ṭanpuitu lian tak a ni thei.

Engtin nge ka in enkawl ang? (Mahni inenkawlna) .

May-Hegglin Anomaly i vei tih i hriat chuan i tih theih ṭha ber pakhat chu i doctor nen he natna hi i enkawl dan tur sawipui hi a ni. Hengte hi kan hriat chian a pawimawh:

• Damdawi lakah fimkhur rawh: Damdawi thenkhat hian i platelet hnathawh a tichhe thei a. Chuvangin, eng damdawi nge i tan a hlauhawm tih chiang takin zawng rawh, engtin nge i pumpelh ang, engtin nge a him taka i ei ang tih zawng rawh. Doctor zawt lovin damdawi engmah hmang suh.
• Kawng faina tha tak vawng reng rawh: I hmui faina uluk taka enkawl hian hmui thisen chhuah loh nan a pui thei a ni. Tin, dentist pan fo hi a tha hle bawk.
• Hliam thlen thei thil tihnaah fimkhur rawh: Hliam thlen thei infiamna (entir nan, contact sports) khelh hunah fimkhur hle ang che. I pumpelh a ngai hial mai thei. Hemi chungchang pawh hi i doctor nen sawiho rawh.
• Naupai lai hian a hlauhawmna hre reng ang che: ‘May-Hegglin Anomaly’ avanga i naupai laiin harsatna i neih loh nan i hriselna enfiah la, i naupai thiam leh hmeichhia (gynecologist) nen ngun takin thawk ho rawh.

Ka doctor hnenah eng nge ka zawh ang?

May-Hegglin Anomaly i vei tih i hriat chuan doctor zawh tur zawhna thenkhat chu hetiang hi a ni:

• "Doctor, ka platelet tlakchhamna (thrombocytopenia) hi engtiang chiahin nge a nat?"
• "Engtikah nge ka platelet count tlahniam tur hi ka ngaihtuah ang?"
• "Eng symptom nge a bik takin ka fimkhur tur?"
• "Hetiang dinhmun hi enkawl turin ka nitin nunah eng inthlak danglamna nge ka neih a ngai?"
• "Ka partner nen hian genetic counseling kan neih hi a tha em?"

Hetiang zawhna zawh hi hlau ngai suh. Ringhlelna i neih apiang tihfai a pawimawh hle.

`MYH9` gene nena inzawm natna dang a awm em?

Ni e, May-Hegglin Anomaly hi MYH9 gene nena inzawm natna chi khat a ni. Heng natna zawng zawng hi MYH9 gene-a mutation awm vang a ni. Research atanga a lan dan chuan, May-Hegglin Anomaly bakah hian platelet pangngai lo leh platelet count hniam siamtu natna dang pathum pawh MYH9 gene-a mutations vang a ni. A dang pathum chu:

• Epstein natna a ni
• Fechtner natna a ni
• Sebastian natna a ni

Heng natna zawng zawng hi an inzawm tlat avangin, leh an chhan pawh inang vek an nih avangin, hun kal zelah heng hming hrang hrangte hi a bo vek mai thei a, an vai hian a vaiin "MYH9-related disorders" tia sawi an ni vek ang.

Chuti a nih chuan, he thawnthu atang hian eng nge kan hriat reng tur pawimawh ber? (In lama hruai tur thuchah)

May-Hegglin Anomaly hi a ni a, platelet lian lo tak leh platelet count hniam tak a awm a ni. Mahse, harsatna lian tham i tawk dawn tihna erawh a ni hauh lo. Hetiang dinhmunah hian thil tam tak chu i platelet count a hniam danah a innghat a ni. Hetiang natna vei tam zawk hian thisen chhuah nasat loh nan platelet an nei tlem hle. Mi dangte chu thisen chhuah tam lutuk vangin an hlauhawm thei bawk.

Chuvangin, a pawimawh ber chu i doctor nen inbia a, thisen chhuah theihna tur tihtlem nan eng fimkhurna nge i tih tur tih chiang taka hrethiam a, chu mi ang chuan che rawh. A pawimawh ber chu hlauh loh te, hriattirna te, damdawi lam thurawn zawm te hi a ni. Hriselna tha tak i tan!

` May-Hegglin Anomaly, platelet, thrombocytopenia, MYH9 gene, thisen chhuah, thlah natna, thisen natna