Olina ekizibu ku platelets z’omusaayi gwo? Ka tuyige ku 'May-Hegglin Anomaly'!

Wali owuliddeko ku linnya lya ‘May-Hegglin Anomaly’? Oboolyawo si bwe kiri. Kubanga eno mbeera ya bbula nnyo, kwe kugamba, embeera y’obuzaale etatera kulabibwa. Naye tolina kutya ng’owulira erinnya lino? Leero, ka twogere ku nsonga eno mu ngeri ennyangu, mu ngeri gy’osobola okutegeera. Kubanga okukimanya kino kiyinza okuba ekikulu ennyo.

Kino ‘May-Hegglin Anomaly’ kye ki?

Mu ngeri ennyangu, May-Hegglin Anomaly mbeera ereetebwa enkyukakyuka entono mu buzaale bwo (enkyukakyuka mu buzaale). Kino kireetera omubiri gwo okukola obusimu obuyitibwa platelets, nga buno butoffaali butono bwe tuyita platelets, nga bunene katono ate nga buvaamu butono okusinga bwe bulina. Okukendeera kuno mu platelets mu by’obujjanjabi kumanyiddwa nga thrombocytopenia.

Kati oyinza okuba nga weebuuza ekituuka ku platelets zino. Kuba akafaananyi ng’olina ekiwundu ekitono. Olwo obusimu buno obuyitibwa platelets buyamba okukomya omusaayi. Zikola ekikuta ky’omusaayi ne ziyimiriza okuvaamu omusaayi. Kale, omuntu alina obulwadde bwa ‘May-Hegglin Anomaly’, olw’okuba platelets zino nnene mu ngeri etaali ya bulijjo ate nga ntono mu sayizi, oluusi asobola okunyiga oba okuvaamu omusaayi mu ngeri ennyangu okusinga omuntu owa bulijjo. Okuvaamu omusaayi ng'okwo (kwe kugamba, ``okuvaamu omusaayi'') era kuyinza okweyongera oluvannyuma lw'okulongoosebwa okw'amaanyi.

Naye wuuno ekintu ky’olina okukuuma mu birowoozo: Abantu bangi abalina embeera eno tebalaga bubonero bwonna. Oba, tekireeta buzibu bwonna bunene. Naye, oba olina obubonero oba nedda, kikulu okumanya nti olina May-Hegglin Anomaly. Olwo ggwe n’abasawo bo musobola okukola ekyetaagisa okwekuuma obubenje n’okuvaamu omusaayi.

Waliwo engeri enkulu ssatu eziraga ‘May-Hegglin Anomaly’?

Yee, waliwo ebintu bisatu ebikulu abasawo bye banoonya okuzuula obulungi embeera eno. Kino kye tuyita ‘triad’. Kwe kugamba, ebintu bisatu ebiraga engeri.

Bbo bali:

• Okubeera n’obutoffaali obunene obutali bwa bulijjo: Kino tukiyita macrothrombocytopenia.
• Okukendeera kw’omuwendo gw’obutoffaali obukola omusaayi: Eno y’embeera gye twayogeddeko emabegako eyitibwa thrombocytopenia.
• Oyinza okulaba obutoffaali obutonotono obulinga omuggo obuyitibwa Döhle bodies munda mu leukocytes zo, ekika ky’obutoffaali obweru. Emibiri gino egya Döhle gya njawulo.

Abasawo basobola okwawula May-Hegglin Anomaly ku ndwadde endala ezikwata obutoffaali obukola omusaayi nga banoonya engeri zino essatu.

Embeera eno ya bulijjo etya? Oba tekitera kubaawo?

Embeera ya ‘May-Hegglin Anomaly’ embeera etali ya bulijjo nnyo.Okusinziira ku lipoota z’okunoonyereza kw’abasawo, abantu abakwatibwa obulwadde buno tebawera 200 mu nsi yonna. Teeberezaamu engeri ekyo gye tekitera kubaawo! Olw’okuba tekitera kubaawo, abasawo batera okubuusabuusa mu kusooka. Omusawo wo ayinza okwetaaga okugaana embeera endala eziwerako eziyinza okuba nga zikosa platelets zo nga tannasalawo nti olina May-Hegglin Anomaly.

Bubonero ki obw’obulwadde bwa ‘May-Hegglin Anomaly’?

Nga bwe twagambye emabegako, abantu abasinga obungi abalina embeera eno tebafuna bubonero bwonna bunene. Kino kiri bwe kityo kubanga balina obutoffaali obumala mu mibiri gyabwe okuziyiza omusaayi okuyitiridde. Kyokka, bw’ofuna obubonero, okusinga bujja kusinziira ku ngeri omuwendo gw’obutoffaali bw’omusaayi (platelets) gye guli omutono.

Buno bwe bubonero obuyinza okulabibwa okutwaliza awamu:

• Okunyiga n’okuvaamu omusaayi mangu. Okufuuka bbululu ne bw’oba ​​ofunye akaseko akatono, oba okutwala akaseera okulekera awo okuvaamu omusaayi ne bwe wabaawo akasala akatono.
• Okuvaamu omusaayi mu nnyindo emirundi mingi. Abantu abamu kino bakiyita `(epistaxis)`.
• Okuvaamu omusaayi mu nnyindo. Kino kiyinza okubaawo ng’osenya amannyo.
• Ku bakyala, okuvaamu omusaayi ekisusse nga bali mu nsonga. Kino era kiyitibwa `(menorrhagia)`.
• Ebibala ebimyufu, ebya kakobe oba ebya kitaka ku lususu. Bino biyitibwa ``purpura''.
• Okuvaamu omusaayi omungi oluvannyuma lw’okulongoosebwa, ng’amannyo gaggyiddwamu oba oluvannyuma lw’okuzaala omwana.

Ekikulu, totya kulowooza nti olina May-Hegglin Anomaly olw’okuba olina obubonero buno bumu oba bubiri. Bino era bisobola okuva ku mbeera endala. Kale kirungi okunoonya amagezi g’abasawo.

Kiki ekivaako ‘May-Hegglin Anomaly’?

May-Hegglin Anomaly mbeera ya buzaale gy’osikira okuva ku omu ku bazadde bo. Tulina obuzaale obuyitibwa `MYH9` mu mubiri gwaffe. Wano waliwo enkyukakyuka entono ebeerawo mu ggiini eno eya `MYH9`, kwe kugamba, `enkyukakyuka`, nga eno y’esinga okuvaako kino. Olw’enkyukakyuka eno ey’obuzaale, obuzibu bubaawo mu ngeri platelets gye zikolebwamu. Eno y’ensonga lwaki zikolebwa mu ngeri ennene ezitali za bulijjo. Era, olw’enkyukakyuka eno ey’obuzaale bwa `MYH9`, omuwendo gwa platelets nagwo gukendeera. Eno y’ensonga lwaki osobola okunyiga n’okuvaamu omusaayi mu ngeri ennyangu.

Enkola y’obusika eya May-Hegglin Anomaly tugiyita enkola ya autosomal dominant. Kino kitegeeza nti olina okuba ne kkopi emu yokka ey’obuzaale bwa MYH9 obukyusiddwa okusobola okufuna embeera eno. Kino kitegeeza nti singa maama wo oba taata wo aba n’enkyukakyuka eno, olina emikisa gya 50% okugisikira.

Oyinza otya okuzuula oba waliwo obulwadde bwa ‘May-Hegglin Anomaly’?

Ebiseera ebisinga, obulwadde bwa May-Hegglin Anomaly buzuulibwa mu butanwa mu kukeberebwa omusaayi okukolebwa olw’ensonga endala. Abasawo bakiteebereza ng’ebyava mu kukebera omusaayi biraga nti platelets ntono oba platelets nnyingi. Okugeza kino kisobola okuzuulibwa ne mu kukeberebwa omusaayi okwa bulijjo ng’oli lubuto.

Waliwo ebigezo ebiwerako ebiyinza okukozesebwa okuzuula oba olina May-Hegglin Anomaly:

• Complete Blood Count (CBC): Okukebera kuno okwa ``(CBC)`` kuyinza okukebera oba omuwendo gwa platelet zo mutono. Mu mbeera eno, mu budde obutuufu omuwendo gwa platelet guyinza okuba wakati wa 40,000 ne 80,000 buli microliter y’omusaayi. Oluusi kiyinza n’okuba ekya bulijjo. Jjukira, mu budde obutuufu tutwala ``wansi'' singa omuwendo gwa platelet guba wansi wa 150,000 buli microliter y'omusaayi.
• Peripheral Blood Smear (PBS): Okukebera kuno okwa PBS kusobola okukebera omuwendo gwa platelet zo. Era ekebera oba waliwo ebizimbe ebyo ebiringa emiggo ebiyitibwa emibiri gya Döhle, bye twayogeddeko emabegako, mu leukocytes zo.
• Okukebera obuzaale: Okukebera kuno kuyinza okukakasa oba olina enkyukakyuka mu buzaale bwo obwa `MYH9`.

Okugatta ku ekyo, omusawo ajja kunoonya obubonero obulala obulaga nti platelets zikendedde, gamba ng’obudde bw’okuvaamu omusaayi okweyongera.

Obulwadde bwa May-Hegglin Anomaly bujjanjabwa butya?

Mu butuufu, abantu abasinga obungi abalina obulwadde bwa May-Hegglin Anomaly tebafuna bubonero bwa maanyi nnyo ne kiba nti beetaaga obujjanjabi. Ekyo kiwummuza ddala, si bwe kiri? Kyokka bw’oba ​​olina okulongoosebwa, omusawo ayinza okwetaaga okwegendereza ennyo oleme kuvaamu omusaayi omungi. Ng’ekyokulabirako, eddagala eriyitibwa desmopressin liyinza okuweebwa mu misuwa nga tebannalongoosebwa okukendeeza ku bulabe bw’okuvaamu omusaayi, oba okuteekebwamu obutoffaali obuyitibwa platelet.

Singa ovaamu omusaayi omungi, gamba ng’ogwa ku kabenje, oyinza okwetaaga okuteekebwamu omusaayi gw’omusaayi (platelet) okuddamu omusaayi.

Bw’oba ​​oli lubuto, mazima ddala ojja kwetaaga okulondoola okulala. Abakyala abasinga abalina obulwadde bwa May-Hegglin Anomaly bazaala abaana abalamu nga tebalina buzibu bwonna. Wabula embeera yonna eyongera obulabe bw’okuvaamu omusaayi ya bulabe ng’oli lubuto. N’olwekyo, omusawo w’abazaalisa n’abakyala ajja kukubuulirira ku ky’olina okukola okwekuuma n’omwana wo ali mu lubuto. Kikulu nnyo okugoberera ebiragiro ebyo.

Kiki ky’osuubira ng’obeera n’obulwadde bwa ‘May-Hegglin Anomaly’?

Obulwadde bwa May-Hegglin Anomaly mbeera ya bulamu bwonna. Kituufu.Naye, ekirungi, eri abantu abasinga obungi, kino tekireeta kutaataaganyizibwa kwa maanyi mu bulamu bwabwe obwa bulijjo. Abantu bangi abalina embeera eno tebalina bubonero bwonna, oba obubonero obutono ennyo. Singa omuwendo gw’obutoffaali obukola omusaayi (platelets) guba mutono ate ng’olina obuzibu, omusawo ajja kukubuulirira ku ngeri gy’oyinza okufuga omusaayi singa ofuna obuvune. Kale tewali kintu kyonna kyeraliikirira.

‘May-Hegglin Anomaly’ esobola okuziyizibwa?

Mu butuufu, tewali ky’oyinza kukola kuziyiza May-Hegglin Anomaly. Eno mbeera ya buzaale. Wabula bw’oba ​​oteekateeka okuzaala omwana naddala nga ggwe oba munno mulina embeera eno, kiba kirungi n’oyogera n’omukugu mu kubuulirira obuzaale. Bw’oba ​​ggwe oba munno olina obulwadde bwa May-Hegglin Anomaly, omwana wo alina emikisa gya 50% okusikira embeera eno.

Omubuulirizi w’obuzaale asobola okwekenneenya akabi konna k’oyinza okuba nakwo n’akuwabula ku ngeri gy’oyinza okukolamu. Ekyo kiyinza okukuyamba ennyo.

Nze nneerabirira ntya? (Okwefaako) .

Bw’okizuula nti olina obulwadde bwa May-Hegglin Anomaly, ekimu ku bintu ebisinga obulungi by’oyinza okukola kwe kwogera n’omusawo wo ku ngeri y’okuddukanyaamu embeera eno. Kikulu okumanya ebintu bino:

• Weegendereze eddagala: Eddagala erimu liyinza okukosa enkola y’obutoffaali bwo. Kale, manya ddala eddagala ki ery’obulabe gy’oli, engeri y’okulyewala oba engeri y’okulimira mu ddoozi ezitali za bulabe. Tokozesa ddagala lyonna nga tobuuzizza musawo.
• Kuuma obuyonjo bw’omu kamwa obulungi: Okufaayo obulungi ku buyonjo bw’omu kamwa kiyinza okuyamba okuziyiza ennyindo okuvaamu omusaayi. Era kirungi okulaba omusawo w’amannyo buli kiseera.
• Weegendereze emirimu egiyinza okuvaako obuvune: Weegendereze nnyo ng’ozannya emizannyo egiyinza okuvaako obuvune (okugeza, emizannyo egy’okukwatagana). Oyinza n’okukwetaagisa okubyewala. Yogerako n’omusawo wo ku nsonga eno nakyo.
• Weetegereze akabi akali mu kiseera ky’olubuto: Okwewala obuzibu ng’oli lubuto olw’obulwadde bwa ‘May-Hegglin Anomaly’, londoola obulamu bwo era okolere nnyo n’omusawo wo ow’okuzaala n’abakyala.

Kiki kye nsaana okubuuza omusawo wange?

Bino bye bimu ku bibuuzo by’olina okubuuza omusawo singa okizudde nti olina obulwadde bwa May-Hegglin Anomaly:

• "Omusawo, obutaba na platelet zange (thrombocytopenia) bwa maanyi kwenkana wa?"
• "Ddi lwe nsaanidde okweraliikirira omuwendo gwa platelet zange okukendeera?"
• "Bubonero ki bwe nsaanidde okwegendereza naddala?"
• "Nkyukakyuka ki ze nneetaaga okukola mu bulamu bwange obwa bulijjo okusobola okuddukanya embeera eno?"
• "Kiba kirungi nze ne munnange okufuna okubudaabudibwa ku buzaale?"

Totya kubuuza bibuuzo nga bino. Kikulu nnyo okugogola okubuusabuusa kwonna kw’oyinza okuba nakwo.

Waliwo endwadde endala ezikwatagana n'obuzaale bwa `MYH9`?

Yee, May-Hegglin Anomaly kibinja kya ndwadde ezikwatagana n’obuzaale bwa MYH9. Endwadde zino zonna ziva ku nkyukakyuka mu ggiini ya MYH9. Okunoonyereza kuzudde nti, ng’oggyeeko May-Hegglin Anomaly, embeera endala ssatu ezireeta platelets ezitali za bulijjo n’omuwendo gw’obutoffaali obutono nazo ziva ku nkyukakyuka mu gene ya MYH9. Endala essatu ze zino:

• Obulwadde bwa Epstein
• Obulwadde bwa Fechtner
• Obulwadde bwa Sebastian

Olw'okuba endwadde zino zonna zikwatagana nnyo, era olw'okuba zonna zirina ekivaako kye kimu, kisoboka nti okumala ekiseera amannya gano ag'enjawulo gajja kubula, era byonna awamu bijja kwogerwako nga "obuzibu obukwatagana ne MYH9."

Kale, kiki ekisinga obukulu kye tusaanidde okujjukira okuva mu mboozi eno? (Obubaka Obutwala Awaka)

May-Hegglin Anomaly mbeera erimu obutoffaali obunene mu ngeri etaali ya bulijjo n’omuwendo gw’obutoffaali obutono. Kyokka tekitegeeza nti ojja kufuna ebizibu ebinene. Nga olina embeera eno, bingi bisinziira ku ngeri omuwendo gwa platelet zo gye guli omutono. Abantu abasinga abalina embeera eno baba n’obutoffaali obuyitibwa platelets obumala okuziyiza okuvaamu omusaayi ogw’amaanyi. Abalala bayinza okuba mu bulabe bw’okuvaamu omusaayi omungi.

N’olwekyo, ekisinga obukulu kwe kwogera n’omusawo wo, otegeere ddala okwegendereza kw’olina okukola okukendeeza ku bulabe bw’okuvaamu omusaayi, n’okukola okusinziira ku ekyo. Ekisinga obukulu si kutya, kutegeezebwa, n’okugoberera amagezi g’abasawo. Obulamu obulungi gyoli!

` May-Hegglin Anomaly, platelets, thrombocytopenia, MYH9 gene, okuvaamu omusaayi, endwadde z’obuzaale, endwadde z’omusaayi