Ngaba unengxaki ngeeplatelets zakho zegazi? Masifunde nge-'May-Hegglin Anomaly'!

Ngaba wakha weva ngegama elithi 'May-Hegglin Anomaly'? Mhlawumbi akunjalo. Kuba le yinto engaqhelekanga, oko kukuthi, yimeko yemfuza engabonakaliyo kakhulu. Kodwa akufanele na woyike xa usiva eli gama? Namhlanje, masithethe ngale nto ngokulula, ngendlela onokuyiqonda. Kuba ukuyiqonda le nto kunokuba yinto ebalulekileyo kakhulu.

Yintoni le 'May-Hegglin Anomaly'?

Ngamafutshane, iMay-Hegglin Anomaly yimeko ebangelwa lutshintsho oluncinci kwiijini zakho (utshintsho lwemfuza). Oku kubangela ukuba umzimba wakho uvelise iiplatelets, ezingamaseli amancinci egazi esiwabiza ngokuba ziiplatelets, ezinkulu kancinci kwaye zivelisa ezimbalwa kunokuba kufanele. Oku kuncipha kweeplatelets kwaziwa ngokwezonyango njenge-thrombocytopenia.

Ngoku usenokuba uzibuza ukuba kwenzeka ntoni kwezi platelets. Khawuthelekelele ukuba unenxeba elincinci. Emva koko ezi platelets zinceda ekumiseni ukopha. Zenza ihlwili legazi kwaye ziyeke ukopha. Ngoko ke, umntu one-'May-Hegglin Anomaly', kuba ezi platelets zikhulu ngokungaqhelekanga kwaye zincinci ngobukhulu, ngamanye amaxesha unokukrazuka okanye wophe ngokulula kunomntu oqhelekileyo. Ukopha okunjalo (oko kukuthi, "ukopha kwegazi") kunokwanda emva kotyando olukhulu.

Kodwa nantsi into ekufuneka uyikhumbule: Abantu abaninzi abanale meko ababonisi zimpawu. Okanye, ayibangeli ngxaki zinkulu. Kodwa, nokuba uneempawu okanye awunazo, kubalulekile ukwazi ukuba une-May-Hegglin Anomaly. Emva koko wena noogqirha bakho ningathatha amanyathelo afunekayo ukuzikhusela kwiingozi nokopha.

Ngaba kukho iimpawu ezintathu eziphambili ezichaza 'i-May-Hegglin Anomaly'?

Ewe, kukho izinto ezintathu eziphambili ezijongwa ngoogqirha ukuze baxilonge ngokuchanekileyo esi sifo. Oku sikubiza ngokuba yi-'triad'. Oko kukuthi, iimpawu ezintathu eziphawulekayo.

Bazi:

• Ukuba neeplatelets ezinkulu ngokungaqhelekanga: Oku sikubiza ngokuba yi-macrothrombocytopenia.
• Ukwehla kwenani leeplatelet: Le yimeko ebesithethe ngayo ngaphambili ebizwa ngokuba yi-thrombocytopenia.
• Ungabona izakhiwo ezincinci, ezimile okwentonga ezibizwa ngokuba yi-Döhle bodies ngaphakathi kwi-leukocytes yakho, uhlobo lweseli emhlophe yegazi. Ezi mizimba ze-Döhle zikhethekile.

Oogqirha banokwahlula iMay-Hegglin Anomaly kwezinye izifo ezichaphazela iiplatelets ngokukhangela ezi mpawu zintathu.

Ixhaphake kangakanani le meko? Okanye ayiqhelekanga?

I-'May-Hegglin Anomaly' yimeko engaqhelekanga kakhulu.Ngokweengxelo zophando lwezonyango, kukho iimeko ezingaphantsi kwama-200 kwihlabathi liphela. Khawuthelekelele indlela ezingaqhelekanga ngayo ezo meko! Ngenxa yokuba zinqabile, oogqirha badla ngokuthandabuza ekuqaleni. Ugqirha wakho unokufuna ukuthintela ezinye iimeko ezininzi ezinokuchaphazela iiplatelet zakho ngaphambi kokuba agqibe kwelokuba une-May-Hegglin Anomaly.

Zithini iimpawu ze-'May-Hegglin Anomaly'?

Njengoko besitshilo ngaphambili, uninzi lwabantu abanale meko abanazo iimpawu ezinkulu. Oku kungenxa yokuba baneeplatelet ezaneleyo emizimbeni yabo ukuthintela ukopha kakhulu. Nangona kunjalo, ukuba ufumana iimpawu, ziya kuxhomekeka kakhulu ekubeni inani leeplatelet zakho liphantsi kangakanani.

Ezi ziimpawu ezinokubonwa ngokubanzi:

• Ukugruzuka nokopha igazi lula. Ukujika kube luhlaza okwesibhakabhaka nokuba sele kuphume iqhuma elincinci, okanye kuthatha ixesha ukuyeka ukopha nokuba sele kuphume inxeba elincinci.
• Ukopha rhoqo kwempumlo. Abanye abantu bayibiza le nto ngokuthi `(epistaxis)`.
• Iintsini eziphuma igazi. Oku kunokwenzeka xa uhlamba amazinyo akho.
• Kwabasetyhini, ukopha kakhulu ngexesha lokuya exesheni. Oku kukwabizwa ngokuba yi-`(menorrhagia)`.
• Amabala abomvu, amfusa, okanye amdaka eluswini. La abizwa ngokuba yi-"purpura".
• Ukopha kakhulu emva kotyando, xa kukhutshwa amazinyo, okanye emva kokuzala umntwana.

Into ebalulekileyo kukuba, ungoyiki ukucinga ukuba une-May-Hegglin Anomaly kuba nje unempawu enye okanye ezimbini kwezi. Ezi zinokubangelwa zezinye iimeko. Ngoko ke kungcono ukufuna ingcebiso kagqirha.

Yintoni ebangela i-'May-Hegglin Anomaly'?

I-May-Hegglin Anomaly yimeko yemfuza oyizuza njengelifa komnye wabazali bakho. Sine-gene ebizwa ngokuba yi-'MYH9' emzimbeni wethu. Nantsi utshintsho oluncinci oluvela kule gene ye-'MYH9', oko kukuthi, 'uguquko', oluyimbangela ephambili yoku. Ngenxa yolu tshintsho lwemfuza, kuvela iingxaki kwindlela ii-platelet ezibunjwa ngayo. Yiyo loo nto zenziwe ngeemilo ezinkulu nezingaqhelekanga. Kwakhona, ngenxa yolu tshintsho lwemfuza ye-'MYH9', inani lee-platelet nalo liyancitshiswa. Yiyo loo nto unokukrweleka kwaye wophe igazi ngokulula.

Sibiza ipateni yelifa likaMay-Hegglin Anomaly ngokuba yipateni elawulayo ye-autosomal. Oku kuthetha ukuba kufuneka ube nekopi enye yejini ye-MYH9 eguquliweyo ukuze ufumane esi sifo. Oku kuthetha ukuba ukuba umama okanye utata wakho unayo i-mutation, unethuba lama-50% lokuyifumana njengelifa.

Ungayibona njani into yokuba kukho i-'May-Hegglin Anomaly'?

Uninzi lwexesha, i-May-Hegglin Anomaly ifunyanwa ngengozi ngexesha lovavanyo lwegazi olwenziwe ngesizathu esithile. Oogqirha bayakurhanela ukuba oko kwenzeka xa iziphumo zovavanyo lwegazi zibonisa ukubala iiplatelet eziphantsi okanye ukubala iiplatelet eziphezulu. Umzekelo, oku kunokubonwa kwanaxa kuvavanyo lwegazi oluqhelekileyo ngexesha lokukhulelwa.

Kukho iimvavanyo ezininzi ezinokusetyenziswa ukufumanisa ukuba unayo na i-May-Hegglin Anomaly:

• Ubalo lweGazi olupheleleyo (CBC): Olu vavanyo lwe-``(CBC)`` lunokujonga ukuba inani leeplatelet zakho liphantsi na. Kule meko, inani leeplatelet linokuba phakathi kwama-40,000 nama-80,000 nge-microliter yegazi. Ngamanye amaxesha linokuba yinto eqhelekileyo. Khumbula, ngesiqhelo sicinga ``phantsi'' ukuba inani leeplatelet lingaphantsi kwama-150,000 nge-microliter yegazi.
• I-Peripheral Blood Smear (PBS): Olu vavanyo lwe-PBS lunokujonga inani leeplatelet zakho. Lukwajonga ukuba zikhona na ezo zakhiwo zifana neentonga ezibizwa ngokuba zii-Döhle bodies, esithethe ngazo ngaphambili, kwii-leukocytes zakho.
• Uvavanyo lwemfuza: Olu vavanyo lunokuqinisekisa ukuba unayo na inguqu kwimfuza yakho ye-'MYH9'.

Ukongeza, ugqirha wakho uza kujonga ezinye iimpawu ze-platelet ephantsi, njengokwanda kwexesha lokopha.

Iphathwa njani i-May-Hegglin Anomaly?

Enyanisweni, uninzi lwabantu abane-May-Hegglin Anomaly ababonakalisi zimpawu zinzima ngokwaneleyo ukuba zifune unyango. Oko kuyanceda kakhulu, akunjalo? Nangona kunjalo, ukuba kufuneka wenze utyando, ugqirha wakho unokufuna ukuthatha amanyathelo okhuseleko angakumbi ukuthintela ukopha kakhulu. Umzekelo, iyeza elibizwa ngokuba yi-desmopressin linokunikwa ngemithambo ngaphambi kotyando ukunciphisa umngcipheko wokopha, okanye utofelo-gazi lwe-platelet lunokunikwa.

Ukuba wopha kakhulu, njengakwingozi, unokufuna ukufakelwa i-platelet ukuze ubuyisele amanqanaba e-platelet yakho.

Ukuba ukhulelwe, ngokuqinisekileyo kuya kufuneka ubekwe esweni ngakumbi. Uninzi lwabasetyhini abane-May-Hegglin Anomaly bazala abantwana abasempilweni ngaphandle kweengxaki. Nangona kunjalo, nayiphi na imeko eyonyusa umngcipheko wokopha iyingozi ngexesha lokukhulelwa. Ke ngoko, ugqirha wakho wokuzala kunye nogqirha wezifo zabesifazane baya kukucebisa ngento omawuyenze ukuze uzikhusele wena kunye nosana lwakho olungekazalwa. Kubaluleke kakhulu ukulandela loo miyalelo.

Yintoni onokuyilindela xa uphila ne-'May-Hegglin Anomaly'?

I-May-Hegglin Anomaly yimeko ehlala ihleli. Yinyani leyo.Kodwa, ngethamsanqa, kubantu abaninzi, oku akubangeli kuphazamiseka okukhulu kubomi babo bemihla ngemihla. Abantu abaninzi abanale meko abanazo iimpawu, okanye iimpawu ezibuthathaka kakhulu. Ukuba inani lakho leeplatelet liphantsi kwaye uneengxaki, ugqirha wakho uya kukucebisa ngeendlela zokulawula ukopha ukuba wenzakele. Ngoko ke akukho nto inokubangela ixhala ngayo.

Ngaba i-'May-Hegglin Anomaly' ingathintelwa?

Enyanisweni, akukho nto unokuyenza ukuthintela i-May-Hegglin Anomaly. Le yimeko yemfuza. Nangona kunjalo, ukuba uceba ukuba nomntwana, ingakumbi ukuba wena okanye iqabane lakho ninayo le meko, kulungile ukuthetha nomcebisi wemfuza. Ukuba wena okanye iqabane lakho ninayo i-May-Hegglin Anomaly, umntwana wakho unethuba lama-50% lokufumana esi sifo njengelifa.

Umcebisi wezemfuza unokuvavanya naziphi na iingozi onokuba nazo aze akucebise ngeendlela onokukhetha kuzo. Oko kunokuba luncedo olukhulu.

Ndingazinyamekela njani? (Ukuzinyamekela)

Ukuba ufumanisa ukuba une-May-Hegglin Anomaly, enye yezona zinto zilungileyo onokuzenza kukuthetha nogqirha wakho malunga nendlela yokulawula le meko. Kubalulekile ukuba uqaphele ezi zinto:

• Lumka ngamayeza: Amanye amayeza anokuchaphazela ukusebenza kweeplatelet zakho. Ngoko ke, fumana ukuba zeziphi kanye kanye amayeza ayingozi kuwe, indlela yokuwaphepha, okanye indlela yokuwasela kwiidosi ezikhuselekileyo. Musa ukusebenzisa naliphi na iyeza ngaphandle kokubuza ugqirha wakho.
• Gcina ucoceko lomlomo wakho lulungile: Ukuyinyamekela kakuhle indlelo yomlomo wakho kunokunceda ekuthinteleni ukopha kweentsini. Kukwangumbono olungileyo ukubona ugqirha wamazinyo rhoqo.
• Lumka ngemisebenzi enokubangela ukwenzakala: Lumka kakhulu xa udlala imidlalo enokubangela ukwenzakala (umzekelo, imidlalo yokudibana). Kusenokufuneka uyiphephe. ​​Thetha nogqirha wakho ngale nto.
• Qaphela iingozi ngexesha lokukhulelwa: Ukuze uphephe iingxaki ngexesha lokukhulelwa kwakho ngenxa ye-'May-Hegglin Anomaly', jonga impilo yakho kwaye usebenzisane ngokusondeleyo nogqirha wakho wokuzala kunye nogqirha wezifo zabesifazane.

Ndimele ndibuze ntoni kugqirha wam?

Nantsi eminye imibuzo onokuyibuza ugqirha wakho ukuba ufumanisa ukuba une-May-Hegglin Anomaly:

• "Gqirha, ingaba ukungabikho kwam kweeplatelet kukhulu kangakanani (thrombocytopenia)?"
• "Ndifanele ndikhathazeke nini malunga nokwehla kwenani leeplatelet zam?"
• "Zeziphi iimpawu ekufuneka ndizijonge ngokukodwa?"
• "Zeziphi iinguqu ekufuneka ndizenze kubomi bam bemihla ngemihla ukuze ndikwazi ukulawula le meko?"
• "Ingaba licebo elihle ukuba mna neqabane lam sifumane iingcebiso ngemfuza?"

Ungaze woyike ukubuza imibuzo efana nale. Kubaluleke kakhulu ukususa nakuphi na ukuthandabuza onokuba nako.

Ngaba zikhona ezinye izifo ezinxulumene nejini ethi `MYH9`?

Ewe, iMay-Hegglin Anomaly liqela lezifo ezinxulumene ne-MYH9 gene. Zonke ezi zifo zibangelwa kukuguquka kwe-MYH9 gene. Uphando lufumanise ukuba, ukongeza kwi-May-Hegglin Anomaly, ezinye iimeko ezintathu ezibangela iiplatelets ezingaqhelekanga kunye nokubalwa kweeplatelets eziphantsi nazo zibangelwa kukuguquka kwe-MYH9 gene. Ezinye ezintathu zezi:

• Isifo se-Epstein
• Isifo seFechtner
• isifo sikaSebastian

Ngenxa yokuba zonke ezi zifo zihlobene kakhulu, kwaye ngenxa yokuba zonke zinesizathu esifanayo, kunokwenzeka ukuba ekuhambeni kwexesha la magama ahlukeneyo aya kunyamalala, kwaye onke aya kubizwa ngokuba "ziingxaki ezinxulumene ne-MYH9."

Ngoko ke, yintoni eyona nto ibalulekileyo esifanele siyikhumbule kweli bali? (Umyalezo Wokubuyela Ekhaya)

I-May-Hegglin Anomaly yimeko ebandakanya iiplatelet ezinkulu ngokungaqhelekanga kunye nokubalwa kweeplatelet okuphantsi. Nangona kunjalo, akuthethi ukuba uya kuba neengxaki ezinkulu. Kule meko, okuninzi kuxhomekeke ekubeni inani leeplatelet zakho liphantsi kangakanani. Uninzi lwabantu abanale meko baneeplatelet ezaneleyo zokuthintela ukopha kakhulu. Abanye banokuba semngciphekweni wokopha kakhulu.

Ngoko ke, eyona nto ibalulekileyo kukuthetha nogqirha wakho, uqonde kakuhle amanyathelo okhuseleko ekufuneka uwathathe ukunciphisa umngcipheko wokopha, kwaye wenze ngokufanelekileyo. Eyona nto ibalulekileyo kukungabi naloyiko, ukwaziswa, kwaye ulandele iingcebiso zonyango. Impilo entle kuwe!

I- May-Hegglin Anomaly, iiplatelets, i-thrombocytopenia, i-MYH9 gene, ukopha, izifo zemfuza, izifo zegazi