Ngaba iiseli zakho ezibomvu zegazi nazo 'ziyi-spherical'? Masithethe nge-spherocytosis yelifa!

Ngamanye amaxesha izinto zenzeka ngaphakathi emizimbeni yethu singazi nokuba siyaqonda. Ngaba wena okanye umntu osapho lwakho uziva udiniwe rhoqo? Mhlawumbi ulusu lwakho lujika lube tyheli kancinci, okanye unengxaki yokuphefumla? Ezi ngamanye amaxesha zinokuba ziimpawu zesifo esingaxhaphakanga kodwa esingabalulekanga esibizwa ngokuba yiHereditary Spherocytosis , esiza kuthetha ngaso namhlanje. Ngoko ke masibone ukuba yintoni le?

Yintoni iHereditary Spherocytosis?

Ngamafutshane, esi sisifo segazi esizuzwe njengelifa . Okwenzekayo kukuba iiseli zethu ezibomvu zegazi ziqhekeka ngokukhawuleza kunesiqhelo. Oku kubangela imeko ebizwa ngokuba yi -hemolytic anemia .

Ngoku khangela, sineeseli ezibomvu zegazi emizimbeni yethu. Ezi ziiseli ezithwala ioksijini emzimbeni wonke. Ngokwesiqhelo, ezi seli zibomvu zegazi zifana neediski, zigobile ngaphakathi kumacala omabini, kwaye ziyaguquguquka. Zifana 'needonathi' ezincinci, kodwa azinamngxuma embindini. Ngenxa yolu kuguquguquka, zinokungena nakwimithambo yegazi emincinci.

Kodwa kule meko ye-spherocytosis ezuzwe njengelifa, okwenzekayo kukuba imo yezi seli ezibomvu zegazi iyatshintsha. Zilahlekelwa yimo yazo yediski kwaye zibe njengeebhola ezincinci, okanye i-spherical . Ezi seli zingqukuva sizibiza ngokuba zii-spherocytes . Ingxaki kukuba, ezi spherecytes aziguquguquki kangako. Ziqinile kancinci, ngoko ke xa zihamba ngemithambo yegazi, ingakumbi xa zidlula kwi-spleen, ziyanamathela kwaye ziqhekeke lula. Zisuswa egazini ngokukhawuleza kuneseli ebomvu yegazi eqhelekileyo.

Ngubani ochaphazeleka kakhulu yile meko?

Esi sifo sidla ngokubonakala kakhulu kubantu abazalwa kuMntla Yurophu okanye kuMntla Melika. Nangona kunjalo, sinokuchaphazela nabani na emhlabeni. Ngokwedatha, oogqirha baqikelela ukuba phakathi komntu omnye kwabangama-2,000 ukuya kuma-5,000 kubemi behlabathi banokuba nesi sifo.

Oogqirha badla ngokuxilonga esi sifo besebancinci okanye besebancinci . Abanye abantwana baqala ukubonisa iimpawu phakathi kweminyaka emi-3 ne-8 ubudala. Kodwa okumangalisayo kukuba, abanye abantu ababonisi zimpawu de babe neminyaka engama-30 okanye engama-40 ubudala. Ngamanye amaxesha, xa usana olusandul’ ukuzalwa lubonisa iimpawu ze-anemia embi kwiveki yokuzalwa, oogqirha bayasikrokrela esi sifo baze benze uvavanyo lwegazi.

I-spherocytosis yelifa ichaphazela njani umzimba wam?

Ukongeza kwi-anemia ekhankanyiweyo ngaphambili (i-hemolytic anemia), abantu abaninzi abanesi sifo banokuhlangabezana nezinye iimeko ezininzi:

• I-Splenomegaly: I-spleen yethu ifana nesihluzo esicoca igazi. Isusa iiseli ezibomvu zegazi ezindala nezonakeleyo. Ngoko ke, ezo 'spherocytes' ezijikelezayo ziyanamathela ngelixa zizama ukudlula kwimithambo emincinci ye-spleen. Xa inani leeseli ezinamatheleyo lisanda, i-spleen iqala ukudumba.
• I-Jaundice:Kulapho ulusu lwakho, amhlophe emehlweni akho (i-sclera), kunye ne-mucous membranes zijika zibe tyheli. Xa iiseli ezibomvu zegazi ziqhekeka ngokukhawuleza, into etyheli ebizwa ngokuba yi-bilirubin iqokelelana egazini lakho. I-jaundice yenzeka xa inqanaba lale bilirubin linyuka.
• Amatye enyongo: Ukuba amanqanaba e-bilirubin ahlala ephezulu, amatye enyongo anokwakheka.

Zithini iimpawu ze-hemolytic anemia ezibangelwa kukwaphuka kweeseli zegazi?

Ukongeza kwi-jaundice kunye nokudumba kwe-spleen, kunokubakho nezinye iimpawu ezininzi:

• Ubunzima bokuphefumla (ukuphelelwa ngamandla): Oku kwenzeka xa kungekho ziseli zegazi ezibomvu ezaneleyo zokuthutha ioksijini efunekayo emzimbeni.
• Ukudinwa: Ukuziva udiniwe kakhulu okwenza kube nzima ukwenza imisebenzi yemihla ngemihla.
• Ukubetha kwentliziyo ngokukhawuleza (i-tachycardia): Intliziyo iqala ukubetha ngokukhawuleza kunokuba kufanele. Xa oku kusenzeka, intliziyo ayinalo ixesha elaneleyo lokuzalisa igazi, nto leyo enciphisa ubungakanani beoksijini efunekayo emzimbeni.
• Uxinzelelo lwegazi oluphantsi kunoko bekulindelwe.

Ngaba wonke umntu uhlangabezana nazo zonke ezi meko?

Hayi, akunjalo. Oogqirha bahlula le meko, iHereditary Spherocytosis, ibe ziindidi ezintathu (ngamanye amaxesha kukho udidi lwesine, oluphakathi/ olunzima ), ngokusekelwe kuhlobo lweempawu.

• Ubuncinane: Olu didi luquka i-20% ukuya kwi-30% yezigulana. Bane-hemolytic anemia. Nangona kunjalo, ezinye iimpawu azibonakali de babe neminyaka engama-30 okanye engama-40 ubudala.
• Phakathi: Phakathi kwama-60% nama-75% ezigulana ziwela kolu luhlu. Oku kuquka iintsana nabantwana abancinci. Basenokuba ne-anemia encinci ukuya kwephakathi kunye ne-jaundice.
• Isifo esinzima kakhulu: Le yeyona ndlela inzima kakhulu. Malunga ne-5% yezigulana ziwela kolu luhlu. Iintsana ezisandul’ ukuzalwa zibonisa iimpawu ze-anemia enzima kwiveki emva kokuzalwa.

Yintoni isizathu soku?

Njengoko igama lisitsho, le yimeko yelifa, oko kuthetha ukuba idluliselwa kubazali ukuya kubantwana . Sonke sifumana iikopi zezakhi zofuzo kubazali bethu. Ukuba kukho naluphi na utshintsho , okanye utshintsho, kwezi zakhi zofuzo, zinokudluliselwa kubantwana bethu. Kwi-spherocytosis yelifa, le meko ibangelwa kukuguquka kwezakhi zofuzo ezintlanu . Ezi zakhi zofuzo zibhala iiproteni ezenza iqokobhe langaphandle leeseli ezibomvu zegazi. (Ubunzima besifo buxhomekeke kuhlobo lwenguqu.)

Malunga nama-75% abantu abanale sifo basifumana njengelifa ngendlela elawulayo . Oku kuthetha ukuba kufuneka ijini enye eguquliweyo kumzali omnye ukuze ibangele esi sifo. Umntwana ozelwe ngumzali onejini eguquliweyo unethuba lama-50% lokufumana eso jini.

Abanye bayizuza njengelifa ukuba bafumana ikopi enye yejini eguquliweyo kubazali bobabini. Oku kubizwa ngokuba yi-autosomal recessive pattern. Kwimeko enjalo, abazali bangabathwali kuphela kwaye bahlala bengabonakalisi zimpawu.

Xa abantu ababini abathwala esi sifo benabantwana, umntwana ngamnye unethuba elingama-25% lokufumana esi sifo, ithuba elingama-50% lokuba abe naso, kunye nethuba elingama-25% lokungachaphazeleki.

Kwenzeka ntoni xa ezi gene zitshintshatshintsha?

Zonke iiseli zethu zine -membrane yeseli . Yiyo le nto yahlula umxholo weseli kwindawo engaphandle kwaye iyikhusele. I-membrane yeeseli ezibomvu zegazi yenziwe yi-membrane encinci ngaphandle kunye ne-cytoskeleton ngaphakathi, eyenziwe ziiproteni ezizidibanisayo.

Iiseli ezibomvu zegazi kufuneka zigobe, zijijeke, kwaye zitshintshe imo. Yile ndlela ezinokucinezela ngayo imithambo yegazi emincinci zize zidlule kwi-spleen. Cinga ngayo ngathi sisonga ihempe ethambileyo kwisutikheyisi egcweleyo. I-membrane yeeseli ezibomvu zegazi inokutshintsha imo xa kufuneka, ngelixa igcina imo yayo ekhethekileyo yediski.

Kwi-spherocytosis yelifa, utshintsho lwemfuza luchaphazela iiproteni kwi-membrane yeseli ebomvu yegazi. Oku kuphazamisa unxibelelwano phakathi kwe-cytoskeleton kunye ne-membrane yangaphandle. I-cytoskeleton ke ngoko ayikwazi ukubonelela ngenkxaso kwi-membrane yangaphandle. Ngenxa yoko, iiseli ezibomvu zegazi ziyatshintsha ukusuka kwimo yazo yediski eguquguqukayo ukuya ekubeni yi-"spherocytes" eqinileyo, engqukuva.

Oogqirha bayixilonga njani le sifo?

Oogqirha baxilonga esi sifo ngokujonga iimpawu zakho, babuze ngembali yakho neyentsapho yakho, baze benze iimvavanyo ezininzi. Ezi mvavanyo zingabandakanya:

• Ubalo lwegazi olupheleleyo (CBC): Olu lwazi lubonelela ngolwazi malunga negazi lakho kunye nempilo iyonke.
• I-smear yegazi engaphandle: Oku kujonga ubungakanani kunye nokuma kweeseli zegazi. Kungajonga nokuba zikhona na ii-spherocytes.
• Inani lee-reticulocyte: Oku kujonga ukuba umongo wakho wethambo uvelisa iiseli zegazi ezibomvu ezisempilweni ngokwaneleyo.
• Uvavanyo lwe-antiglobulin oluthe ngqo (Uvavanyo lwe-antiglobulin oluthe ngqo - uCoombs): Olu vavanyo lujonga i-autoimmune hemolytic anemia.
• Inqanaba leBilirubin: Uvavanyo lwegazi olujonga amanqanaba aphezulu e-bilirubin egazini.
• Ubuthathaka be-osmotic cell red cell: Oku kulinganisa indlela iiseli ezibomvu zegazi eziqhekeka lula ngayo.
• I-electrophoresis ye-plasma membrane: Le yindlela ekhethekileyo esebenzisa intsimi yombane ukwahlula i-DNA, i-RNA, okanye iiproteni kwijeli okanye ulwelo. Ijonga ukuba yeyiphi iproteni kwi-membrane yeseli ebomvu yegazi enenguqu.

Iphathwa njani le nto?

Iindlela zonyango ziyahluka ngokuxhomekeke kwiimpawu. Umzekelo, umntwana osandul’ ukuzalwa one-anemia enzima unokunikwa igazi kunye/okanye ii-erythropoietin-stimulating agents (ESAs) kwangoko nje ukuba imeko ifunyaniswe. Ii-ESA ngamayeza akhuthaza ukuveliswa kweeseli ezibomvu zegazi.

Ezinye iindlela zonyango zezi:

• I-Phototherapy: Unyango olulula olunikwa ukunyanga i-jaundice kwiintsana ezisandul’ ukuzalwa.
• Utofelo-gazi: Igazi linikwa njengonyango lwe-anemia.
• I-Splenectomy: I-spleen isuswa ngotyando njengonyango lweemeko ezinzima.
• I-Cholecystectomy: Olu tyando lwenziwa njengonyango lwamatye enyongo.
• Unyango lwe-iron chelation: Utofelo-gazi oluqhelekileyo lunokubangela ukuba i-iron egqithisileyo iqokeleleke emzimbeni (i-hemochromatosis) . Olu nyango lusetyenziselwa ukususa le i-iron egqithisileyo.

Ngaba i-spherocytosis yelifa inokuthintelwa?

Ukuba kukho umntu kusapho lwakho onesi sifo, oko kukuthi, ukuba kukho imbali yelifa, kunzima ukusithintela. Kuba yinto evela kwizakhi zofuzo. Kodwa eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba ukuba nje umntu kusapho lwakho unaso, akuthethi ukuba wena okanye abantwana bakho ngokuqinisekileyo niza kuba naso esi sifo.

Umzekelo, ukuba uzuze i-gene eguquliweyo komnye wabazali bakho, unethuba elingama-50% lokufumana esi sifo. Ukuba uzuze i-gene eguquliweyo kubazali bobabini, unethuba elingama-25% lokufumana esi sifo. Kwakhona, kukho ithuba elingama-50% lokuba uza kuba ngumthwali wesifo kwaye ungabonakalisi zimpawu.

Ukuba unenkxalabo okanye uxhalabile malunga noku, ungathetha nogqirha wakho okanye womntwana wakho malunga nokuvavanywa kwe-spherocytosis yelifa. Iziphumo ziya kukunceda ufumanise ukuba wena okanye umntwana wakho nizuze uguquko lwemfuza njengelifa. Emva koko unokufumana umbono wento onokuyilindela.

Ugqirha wakho uza kukuchazela ukuba iziphumo zovavanyo zithetha ukuthini, nokuba isifo sincinci, siphakathi, okanye sinzima, zeziphi iimeko ezinokuvela kwixesha elizayo, kunye neempawu zazo zokuqala.

Yintoni endimele ndiyilindele ukuba mna/umntwana wam unale meko?

Uninzi lwabantu abane-spherocytosis yelifa banesimo esihle sokuqikelela . Nangona kunjalo, ayinguye wonke umntu ofanayo. Isifo sakho okanye somntwana wakho sixhomekeke kwizinto ezifana nobunzima besifo, nokuba unezinye iingxaki zempilo, kunye nempilo yakho iyonke.

Umntwana wam une-spherocytosis yelifa. Ndingamnyamekela njani?

Ukutyelela rhoqo abantwana abanesi sifoOku kukujonga impilo yabo iyonke kunye nokujonga iimpawu ezintsha, ezifana ne-anemia okanye i-gallstones. Ukuba umntwana wakho ufuna utofelo-gazi rhoqo, oogqirha banokucebisa ukuba agonyelwe intsholongwane ye-hepatitis B. Banokukunika iingcebiso nangamanyathelo onokuwathatha ukukhusela umntwana wakho kwiintsholongwane, ezifana ne -parvovirus B19 , enokubangela iingxaki zempilo ezingxamisekileyo nezinzulu.

I-spherocytosis yelifa sisifo segazi esingaqhelekanga esizuzwe njengelifa esifuna unyango lobomi bonke . Oogqirha banokunyanga izifo ezibangelwa sisifo ngamanye amaxesha. Nangona kunjalo, akukho nyango lwale ngxaki yegazi.

Okokugqibela, kufuneka ndithi... (Umyalezo Wokuya Ekhaya)

Ukuphila nesifo esinganyangekiyo, okanye ukunyamekela umntu onesifo eso, akulula ngaso sonke ixesha. Kwaye kunokuba nzima nangakumbi xa uphila nesifo abantu abaninzi abangasaziyo okanye abakhe beva ngaso. Ukuba wena okanye umntwana wakho une-spherocytosis yelifa, unokuziva uxinezelekile, unesizungu, kwaye ungenamntu onokucela uncedo kuye.

Ungakhathazeki. Thetha nogqirha wakho. Baza kwenza konke okusemandleni abo ukukunceda wena nomntwana wakho. Baza kukuvuyela ukuphendula imibuzo yakho. Khumbula, awuwedwa kolu hambo. Ungafumana inkxaso nolwazi oludingayo.

Ndiyathemba ukuba olu lwazi luluncedo kuwe. Hlala usempilweni!

I - spherocytosis yelifa, iiseli ezibomvu zegazi, i-anemia, i-spleen, izifo ezizuzwe njengelifa, iijini, izifo zegazi, i-jaundice, amatye enyongo