Indlela yokuchonga nokunyanga isifo seAase-Smith
Umxholo
I-Aase syndrome, ekwabizwa ngokuba yi-Aase-Smith syndrome, sisifo esinqabileyo esibangela iingxaki ezinje nge-anemia rhoqo kunye nokungasebenzi kakuhle kumalungu kunye namathambo eendawo ezahlukeneyo zomzimba.
Ezinye zeempazamo eziqhelekileyo zibandakanya:
- Amalungu, iminwe okanye iinzwane, ezincinci okanye ezingekhoyo;
- Inkalakahla ecwengileyo;
- Iindlebe ezonakeleyo;
- Ukujikisa iinkophe;
- Kunzima ukolula ngokupheleleyo amalungu;
- Amagxa amxinwa;
- Ulusu olukhanyayo kakhulu;
- Ukudityaniswa kwesisu kwizithupha.
Esi sifo sivela ngokuzalwa kwaye senzeka ngenxa yokutshintsha kwemfuza okungahleliwe ngexesha lokukhulelwa, yiyo loo nto, kwiimeko ezininzi, sisifo esingelolifa. Nangona kunjalo, kukho iimeko ezithile apho esi sifo sinokudlula sisuka kubazali siye ebantwaneni.
Unyango lwenziwa njani
Unyango luhlala luboniswa ngugqirha wabantwana kwaye lubandakanya utofelo-gazi kunyaka wokuqala wobomi ukunceda ukulawula i-anemia. Kule minyaka idlulileyo, i-anemia iye yaya incipha kwaye, ke, utofelo-gazi kungasafuneki, kodwa kuyacetyiswa ukuba kuvavanyo lwegazi rhoqo ukuvavanya amanqanaba eeseli ezibomvu zegazi.
Kwiimeko ezinzima kakhulu, apho kungenakwenzeka ukulinganisa amanqanaba egazi elibomvu kunye nokumpontshelwa igazi, kunokuba yimfuneko ukufakelwa umongo wethambo. Jonga ukuba lwenziwa njani olu nyango kwaye ziyintoni iingozi.
Iziphene azifane zifune unyango, njengoko zingaphazamisi imisebenzi yemihla ngemihla. Kodwa ukuba oku kuyenzeka, ugqirha wabantwana unokucebisa utyando ukuzama ukuvuselela indawo echaphazelekayo kunye nokubuyisela ukusebenza.
Yintoni enokubangela le syndrome
Isifo se-Aase-Smith sibangelwa lutshintsho kolunye lwezinto zofuzo ezibaluleke kakhulu ekubunjweni kweeproteni emzimbeni. Olu tshintsho luhlala lusenzeka ngokungacwangciswanga, kodwa kwiimeko ezinqabileyo ezinokugqithiswa ukusuka kubazali kuye ebantwaneni.
Ke, xa kukho iimeko zesi sifo, kuhlala kucetyiswa ukuba udibane neengcebiso zemfuzo ngaphambi kokuba ukhulelwe, ukufumanisa ukuba ngowuphi umngcipheko wokuba nabantwana abanesi sifo.
Uxilongo lwenziwa njani
Ukuchongwa kwesi sifo kunokwenziwa ngugqirha wabantwana kuphela ngokujonga ukungalunganga, nangona kunjalo, ukuqinisekisa isifo, ugqirha unokuyalela utyando lomongo wethambo.
Ukuchonga ukuba ngaba kukho i-anemia ehambelana nesifo, kufuneka kwenziwe uvavanyo lwegazi ukuvavanya isixa seeseli ezibomvu zegazi.