Ingabe amangqamuzana akho abomvu egazi nawo 'ayindilinga'? Ake sixoxe nge-spherocytosis yefa!

Ngezinye izikhathi izinto zenzeka ngaphakathi emizimbeni yethu ngaphandle kokuthi siqaphele. Ingabe wena noma othile emndenini wakho uzizwa ukhathele ngaso sonke isikhathi? Mhlawumbe isikhumba sakho siphenduka sibe phuzi kancane, noma unenkinga yokuphefumula kancane? Lokhu ngezinye izikhathi kungaba izimpawu zesimo esingajwayelekile kodwa esingabalulekile esibizwa ngokuthi i-Hereditary Spherocytosis , esizokhuluma ngaso namuhla. Ngakho ake sibone ukuthi kuyini lokhu?

Kuyini i-spherocytosis yefa?

Kalula nje, lokhu kuyisifo segazi esizuzwe njengefa . Okwenzekayo ukuthi amangqamuzana ethu abomvu egazi aphuka ngokushesha kunokujwayelekile. Lokhu kubangela isimo esibizwa ngokuthi i-hemolytic anemia .

Manje bheka, sinamangqamuzana abomvu egazi emizimbeni yethu. Lawa ngamaseli athwala umoya-mpilo kuwo wonke umzimba. Ngokuvamile, lawa maseli abomvu egazi afana nama-disc, agobile ngaphakathi nhlangothi zombili, futhi ayaguquguquka. Afana 'nama-donuts' amancane, kodwa angenambobo phakathi. Ngenxa yalokhu kuguquguquka, angangena ngisho nasemithanjeni yegazi emincane kakhulu.

Kodwa kulesi simo se-spherocytosis esizuzwe njengefa, okwenzekayo ukuthi isimo sala maseli abomvu egazi siyashintsha. Alahlekelwa ukuma kwawo kwediski futhi abe njengamabhola amancane, noma i-spherical . Sibiza la maseli ayindilinga ngokuthi ama-spherocyte . Inkinga iwukuthi, lawa ma-spherocyte awaguquguquki kangako. Aqinile kancane, ngakho-ke uma ehamba ngemithambo yegazi, ikakhulukazi uma edlula ebhodleleni, ayabhajwa futhi aphuke kalula. Asuswa egazini ngokushesha kuneseli elibomvu legazi elivamile.

Ubani othinteka kakhulu yilesi simo?

Lesi sifo sivame ukubonakala kakhulu kubantu bozalo lwaseNyakatho Yurophu noma eNyakatho Melika. Kodwa-ke, singathinta noma ubani emhlabeni. Ngokusho kwedatha, odokotela balinganisela ukuthi phakathi komuntu oyedwa kwabangu-2,000 no-5,000 emhlabeni wonke bangaba nalesi sifo.

Odokotela bavame ukuxilonga lesi sifo besebancane noma besebancane . Abanye abantwana baqala ukukhombisa izimpawu phakathi kweminyaka engu-3 no-8. Kodwa ngokumangazayo, abanye abantu ababonisi zimpawu kuze kube yilapho beneminyaka engu-30 noma engu-40. Ngezinye izikhathi, lapho umntwana osanda kuzalwa ebonisa izimpawu ze-anemia embi phakathi nesonto lokuzalwa, odokotela bayasola lesi sifo bese benza ukuhlolwa kwegazi.

I-spherocytosis yefa iwuthinta kanjani umzimba wami?

Ngaphezu kwe-anemia okukhulunywe ngayo ngaphambili (i-hemolytic anemia), abantu abaningi abanalesi sifo bangase babe nezinye izimo eziningana:

• I-Splenomegaly: Ubende bethu bufana nesihlungi esihlanza igazi. Sisusa amangqamuzana abomvu amadala nawonakele. Ngakho-ke, lawo ma-'spherocyte' ayindilinga ayabhajwa ngenkathi ezama ukudlula emithanjeni emincane yobende. Lapho inani lamangqamuzana abhajwe landa, ubende uqala ukuvuvukala.
• I-Jaundice:Lokhu kwenzeka lapho isikhumba sakho, okumhlophe kwamehlo akho (i-sclera), kanye nolwelwesi lwamafinyila kuba phuzi. Lapho amangqamuzana abomvu egazi ephuka ngokushesha kakhulu, into ephuzi ebizwa ngokuthi i-bilirubin inqwabelana egazini lakho. I-jaundice yenzeka lapho izinga lale bilirubin likhuphuka.
• Amatshe enyongo: Uma amazinga e-bilirubin ehlala ephezulu, amatshe enyongo angakheka.

Yiziphi izimpawu ze-hemolytic anemia ezibangelwa ukuwohloka kwamaseli egazi?

Ngaphezu kokuvuvukala kwe-jaundice kanye ne-spleen, kungase kube nezinye izimpawu eziningana:

• Ubunzima bokuphefumula (ukuphelelwa umoya): Lokhu kwenzeka uma kungekho amangqamuzana abomvu egazi anele ukuthutha umoya-mpilo odingwa ngumzimba.
• Ukukhathala: Umuzwa wokukhathala okukhulu okwenza kube nzima ukwenza imisebenzi yansuku zonke.
• Ukushaya kwenhliziyo okusheshayo (i-tachycardia): Inhliziyo iqala ukushaya ngokushesha kunalokho okufanele. Uma lokhu kwenzeka, inhliziyo ayinaso isikhathi esanele sokugcwalisa igazi, okunciphisa inani lomoya-mpilo umzimba owudingayo.
• Umfutho wegazi ophansi: Umfutho wegazi ophansi kunokulindelekile.

Ingabe wonke umuntu ubhekana nazo zonke lezi zimo?

Cha, akunjalo. Odokotela bahlukanisa lesi simo, i-Hereditary Spherocytosis, ngezigaba ezintathu (ngezinye izikhathi kuba nesigaba sesine, esimaphakathi/ esinzima ), ngokusekelwe ohlotsheni lwezimpawu.

• Okuncane: Lesi sigaba sihlanganisa u-20% kuya ku-30% weziguli. Bane-hemolytic anemia. Kodwa-ke, ezinye izimpawu azibonakali baze babe neminyaka engu-30 noma engu-40 ubudala.
• Okulingene: Phakathi kuka-60% no-75% weziguli ziwela kulesi sigaba. Lokhu kufaka phakathi izinsana nezingane ezincane. Bangase babe ne-anemia encane kuya kwephakathi kanye ne-jaundice.
• Okubi kakhulu: Lolu uhlobo olubi kakhulu. Cishe u-5% weziguli uwela kulesi sigaba. Izinsana ezisanda kuzalwa zibonisa izimpawu ze-anemia enkulu zingakapheli isonto lokuzalwa.

Iyini imbangela yalokhu?

Njengoba igama lisho, lesi yisimo sofuzo, okusho ukuthi sidluliselwa kusuka kubazali kuya ezinganeni . Sonke sithola amakhophi ezakhi zofuzo kubazali bethu. Uma kukhona noma yikuphi ukuguquka , noma izinguquko, kulezi zakhi zofuzo, zingadluliselwa ezinganeni zethu. Ku-spherocytosis yezakhi zofuzo, lesi simo sibangelwa ukuguquka kwezakhi zofuzo ezinhlanu . Lezi zakhi zofuzo zikhomba amaprotheni akha igobolondo langaphandle lamaseli abomvu egazi. (Ubukhulu besifo buxhomeke ohlotsheni lokuguquka.)

Cishe abantu abangu-75% abanalesi sifo basithola njengefa ngendlela elawulwa yi-autosomal . Lokhu kusho ukuthi kuthatha isakhi sofuzo esisodwa esiguquliwe kumzali oyedwa ukuze sibangele lesi sifo. Ingane ezalwa ngumzali onesakhi sofuzo esiguquliwe inethuba elingu-50% lokuthola leso sakhi sofuzo.

Abanye bayizuza njengefa uma bezuza ikhophi eyodwa yesakhi sofuzo esiguquliwe kubo bobabili abazali. Lokhu kubizwa ngokuthi iphethini ye-autosomal recessive . Kulesi simo, abazali bangabathwali kuphela futhi ngokuvamile ababonisi izimpawu.

Uma abantu ababili abanalesi sifo benabantwana, ingane ngayinye inethuba elingu-25% lokuthola lesi sifo, ithuba elingu-50% lokuba yiso, kanye nethuba elingu-25% lokungathinteki.

Kwenzekani uma lezi zakhi zofuzo zishintshashintsha?

Wonke amangqamuzana ethu ane -membrane yeseli . Yilokhu okuhlukanisa okuqukethwe yiseli nendawo engaphandle futhi kuyivikele. I-membrane yamangqamuzana abomvu egazi yakhiwe yi-membrane encane ngaphandle kanye ne-cytoskeleton ngaphakathi, eyenziwe ngamaprotheni awaxhumanisa ndawonye.

Amangqamuzana egazi abomvu kudingeka agobe, asonte, futhi ashintshe ukuma. Yileyo ndlela angacindezela ngayo imithambo yegazi emincane futhi adlule ebhodweni. Cabanga ngakho njengokungathi sigoqa ihembe elithambile epotimendeni eligcwele kakhulu. I-membrane yamangqamuzana egazi abomvu ingashintsha ukuma uma kudingeka, kuyilapho igcina ukuma kwayo okukhethekile kwediski.

Ku-spherocytosis yefa, ukuguquka kwezakhi zofuzo kuthinta amaprotheni kulwelwesi lwamaseli abomvu egazi. Lokhu kuphazamisa ukuxhumana phakathi kwe-cytoskeleton kanye nolwelwesi lwangaphandle. I-cytoskeleton ibe isingakwazi ukunikeza ukwesekwa kolwelwesi lwangaphandle. Ngenxa yalokho, amangqamuzana abomvu egazi ayashintsha kusuka esimweni sawo sediski esiguquguqukayo abe "ama-spherocyte" aqinile, ayindilinga.

Odokotela basithola kanjani lesi sifo?

Odokotela baxilonga lesi sifo ngokubheka izimpawu zakho, babuze ngomlando wezokwelapha wakho nowomndeni wakho, bese benza izivivinyo eziningana. Lezi zivivinyo zingafaka:

• Ukubalwa kwegazi okuphelele (i-CBC): Lokhu kunikeza ulwazi mayelana negazi lakho kanye nempilo yakho iyonke.
• I-smear yegazi elingaphandle: Lokhu kuhlola usayizi nesimo samaseli egazi. Kungahlola nokuba khona kwama-spherocyte.
• Inani lama-reticulocyte: Lokhu kuhlola ukuthi umnkantsha wakho ukhiqiza amangqamuzana egazi abomvu anele yini.
• Ukuhlolwa kwe-antiglobulin okuqondile (Ukuhlolwa kwe-antiglobulin okuqondile - i-Coombs): Lokhu kuhlola i-autoimmune hemolytic anemia.
• Izinga le-Bilirubin: Ukuhlolwa kwegazi okuhlola amazinga aphezulu e-bilirubin egazini.
• Ubuthakathaka be-osmotic yamaseli abomvu: Lokhu kulinganisa ukuthi amaseli abomvu egazi aqhekeka kalula kangakanani.
• I-electrophoresis ye-plasma membrane: Lena inqubo ekhethekile esebenzisa insimu kagesi ukuhlukanisa i-DNA, i-RNA, noma amaprotheni kujeli noma uketshezi. Ibheka ukuthi iyiphi iphrotheni ese-red blood cell membrane ene-mutation.

Kuphathwa kanjani lokhu?

Izinketho zokwelapha ziyahlukahluka kuye ngezimpawu. Isibonelo, usana olusanda kuzalwa olune-anemia enkulu lunganikwa ukumpontshelwa igazi kanye/noma ama-erythropoietin-stimulating agents (ESAs) ngokushesha nje lapho lesi simo sitholakala. Ama-ESA yimithi ekhuthaza ukukhiqizwa kwamangqamuzana abomvu egazi.

Ezinye izindlela zokwelapha yilezi:

• Ukwelashwa nge-Phototherapy: Ukwelashwa okulula okunikezwa ukwelapha i-jaundice ezinganeni ezisanda kuzalwa.
• Ukumpontshelwa igazi: Igazi linikezwa njengendlela yokwelapha i-anemia.
• I-Splenectomy: I-spleen isuswa ngokuhlinzwa njengokwelashwa kwezimo ezinzima.
• I-Cholecystectomy: Lokhu kuhlinzwa kwenziwa njengokwelashwa kwamatshe enyongo.
• Ukwelashwa nge-iron chelation: Ukumpontshelwa igazi njalo kungabangela ukwakheka kwe-iron eningi emzimbeni (i-hemochromatosis) . Lokhu kwelashwa kusetshenziselwa ukususa le iron eningi.

Ingabe i-spherocytosis yefa ingavinjelwa?

Uma othile emndenini wakho enalesi sifo, okungukuthi, uma kukhona umlando wofuzo, kunzima ukusivimbela. Ngoba kuyinto evela ezizakhini zofuzo. Kodwa into ebaluleke kakhulu okufanele uyikhumbule ukuthi ngoba nje othile emndenini wakho enaso, akusho ukuthi wena noma izingane zakho nizosithola lesi sifo.

Isibonelo, uma uzuza ifa lofuzo oluguquliwe komunye wabazali bakho, unethuba elingu-50% lokuthola lesi sifo. Uma uzuza ifa lofuzo oluguquliwe kubo bobabili abazali, unethuba elingu-25% lokuthola lesi sifo. Futhi, kunethuba elingu-50% lokuthi uzoba ngumthwali walesi sifo futhi ungakhombisi zimpawu.

Uma unemibuzo noma ukukhathazeka ngalokhu, ungakhuluma nodokotela wakho noma wengane yakho mayelana nokuhlolwa kwe-spherocytosis yefa. Imiphumela izokusiza ukuthola ukuthi wena noma ingane yakho nizuze yini ukuguquka kwezakhi zofuzo. Ngemuva kwalokho ungathola umbono walokho ongakulindela.

Udokotela wakho uzokuchazela ukuthi imiphumela yokuhlolwa isho ukuthini, ukuthi lesi sifo sincane, siphakathi nendawo, noma sinzima kangakanani, ukuthi yiziphi izimo ezingase zivele esikhathini esizayo, nokuthi yiziphi izimpawu zazo zokuqala.

Yini okufanele ngiyilindele uma mina/ingane yami sinalesi simo?

Iningi labantu abane-spherocytosis ezuzwe njengefa banesimo esihle sokubikezela . Kodwa-ke, akubona bonke abantu abafanayo. Isimo sakho noma somntwana wakho sincike ezintweni ezifana nobucayi besifo, ukuthi unezinye izinkinga zempilo, kanye nempilo yakho iyonke.

Ingane yami ine-spherocytosis ezuzwe njengefa. Ngingayinakekela kanjani?

Ukuvakashelwa njalo kokulandelela kwezingane ezinalesi sifoLokhu kwenzelwa ukuqapha impilo yabo iyonke nokuhlola izimpawu ezintsha, njenge-anemia noma amatshe enyongo. Uma ingane yakho idinga ukumpontshelwa igazi njalo, odokotela bangase batuse ukugonyelwa igciwane le-hepatitis B. Bangase futhi bakunikeze iseluleko ngezinyathelo ongazithatha ukuvikela ingane yakho ezifweni ezibangelwa amagciwane, njenge- parvovirus B19 , engabangela izinkinga zempilo eziphuthumayo nezingathi sína.

I-spherocytosis yefa iyisifo segazi esingavamile esizuzwe njengefa esidinga ukunakekelwa kwezokwelapha impilo yonke . Odokotela bangelapha izimo zempilo ezingathi sína ezibangelwa yilesi sifo. Kodwa-ke, ayikho ikhambi lalesi sifo segazi.

Ekugcineni, kufanele ngithi... (Umyalezo Wokuya Ekhaya)

Ukuphila nesifo esingamahlalakhona, noma ukunakekela umuntu onaso, akulula ngaso sonke isikhathi. Futhi kungaba nzima nakakhulu uma uphila nesimo abantu abaningi abangasazi noma abake bezwa ngaso. Uma wena noma ingane yakho ninesifo esidluliselwa ngefa, ningase nizizwe nikhungathekile, ninesizungu, futhi ningenamuntu eningamcela usizo.

Ungakhathazeki. Khuluma nodokotela wakho. Bazokwenza konke okusemandleni abo ukukusiza wena nomntwana wakho. Bazokujabulela ukuphendula imibuzo yakho. Khumbula, awuwedwa kulolu hambo. Ungathola ukwesekwa nolwazi oludingayo.

Ngiyethemba ukuthi lolu lwazi luwusizo kuwe. Hlala uphilile!

I - spherocytosis yefa, amangqamuzana abomvu egazi, i-anemia, i-spleen, izifo ezizuzwe njengefa, izakhi zofuzo, izifo zegazi, i-jaundice, amatshe enyongo