Okuqukethwe
Ukuhlola i-sickle cell anemia
Incazelo ye-sickle cell anemia
La i-sickle cell anemia, Kubizwa futhi i-sickle cell anemia, yisifo segazi esizuzwe njengefa (ngokunembile i-hemoglobin) okuyisifo sofuzo esivame kakhulu eFrance naseQuebec.
I-Ile-de-France yisifunda esithinteke kakhulu (ngaphandle kwe-DOM-TOM) enezinsana ezizungeze i-1/700 ezisanda kuzalwa ezithintekile. Sekukonke, eFrance, cishe abantu abayishumi kukholakala ukuthi banesifo se-sickle cell.
Lesi sifo sithinta kakhulu abantu abavela eMedithera, e-Afrika naseCaribbean. Kulinganiselwa ukuthi zingu-312 izingane ezisanda kuzalwa ezithintekayo emhlabeni jikelele, ikakhulukazi emazweni ase-Afrika eseningizimu yeSahara.
Kungani ukuhlolwa kwezinsana ezisanda kuzalwa kwe-sickle cell anemia?
Lapho lesi sifo sitholwa ngaphambi kwesikhathi, kungcono ukunakekelwa namathuba okusinda kwengane.
EFrance, a ukuhlolwa kwezingane ezisanda kuzalwa ngakho-ke kuhlinzekwa ngokuhlelekile ezinganeni ezisanda kuzalwa ezinabazali bazo abavela ezifundeni ezisengcupheni. Wenziwa kuzo zonke izingane ezisanda kuzalwa eminyangweni yaphesheya kwezilwandle.
EQuebec, ukuhlolwa akuhlelekile futhi akujwayelekile: kusukela ngoNovemba 2013, izingane ezizalwa ezibhedlela nasezikhungweni zokubelethisa ezifundeni zaseMontreal naseLaval zikwazi ukufinyelela ukuhlolwa kokuhlolwa kwe-sickle cell anemia.
Yimiphi imiphumela esingayilindela ekuhloleni i-sickle cell anemia?
Ukuhlolwa kwe- screening ihlose ukugqamisa ubukhona be amaseli abomvu angajwayelekile Izici zalesi sifo, ezimise okwe "sikela". Futhi kubizwa isikela lesikela, zinokuma okulingene okungabonakala ngaphansi kwesibonakhulu (ngegazi smear). Kungenzeka futhi ukwenza ukuhlolwa kofuzo ukuthola isakhi sofuzo esiguqukile.
Ngokwenzayo, ukuhlolwa kwezingane ezisanda kuzalwa kusekelwe ekuhlaziyweni kwe-hemoglobin by i-electrophoresis, indlela yokuhlaziya engathola ubukhona be-hemoglobin engajwayelekile, "ehamba" kancane kakhulu kune-hemoglobin evamile lapho ifudukelwa endaweni ethile ekhethekile.
Le ndlela ingenziwa ngegazi elomisiwe, okuyilapho kwenzeka ngesikhathi sokuhlolwa kwezinsana.
Ngakho-ke ukuhlolwa kwenziwa njengengxenye yokuhlolwa izifo ezehlukene ezingavamile kuma-72st ihora lempilo ezinganeni ezisanda kuzalwa, kusuka kusampula yegazi ethathwe ngokuhlaba isithende. Akukho ukulungiselela okudingekayo.
Yimiphi imiphumela esingayilindela ekuhlolweni okusanda kuzalwa kwesifo se-sickle cell?
Umphumela wokuhlolwa okulodwa awenele ukuqinisekisa ukuxilongwa. Uma ungabaza, kuzothintwa abazali bezingane ezisanda kuzalwa ezithintekayo bese kwenziwa ezinye izivivinyo ukuqinisekisa ukuxilongwa nokuhlela ukwelashwa.
Ngaphezu kwalokho, isivivinyo senza ukuthi kubonakale izingane ezihlushwa yilesi sifo, kodwa futhi nezingane ezingathintekile kepha ziphethe isakhi sofuzo esiguqukile. Lezi zingane ngeke zigule, kodwa zizoba sengozini yokudlulisela lesi sifo ezinganeni zazo. Babizwa ngokuthi "abathwali abaphilile" noma ama-heterozygotes ohlobo lweseli lesikela.
Abazali bazokwaziswa futhi ukuthi kunengozi yokuba nezifo kwezinye izingane zabo, futhi bazolandelelwa ngokulandela ulibofuzo.