Sonke siyazi ukuthi izingane zithola izinto ezifana nokubukeka kanye nethalente kubazali bazo. Ngokufanayo, ngezinye izikhathi, ngaphandle kokuthi siqaphele, izingane zethu zingazuza nezakhi zofuzo ezihlobene nezifo ezithile. Ezinye zalezi zifo zivame kakhulu phakathi kwamaqembu athile ezinhlanga emhlabeni. Namuhla sikhuluma ngokuhlolwa okunjalo kwezakhi zofuzo. Lokhu kubaluleke kakhulu kubantu bozalo lwama-Ashkenazi amaJuda, abavela ezingxenyeni ezithile zaseYurophu.
Kalula nje, iyini le-Ashkenazi Jewish Genetic Panel?
Okokuqala, ake sibheke ukuthi bangobani laba maJuda ase-Ashkenazi. Bangabantu abangamaJuda abavela emazweni aseCentral noma aseMpumalanga Yurophu. Izifundo zithole ukuthi leli nani linesibalo esiphezulu kunesilinganiso sezifo ezithile zofuzo.
Kubaluleke kakhulu ukuqonda igama elithi "umthwali" lapha. Ake uzicabange unesakhi sofuzo sesifo esithile emzimbeni wakho, kodwa awunazo izimpawu zaleso sifo. Uphilile. Kodwa ungadlulisela leso sakhi sofuzo enganeni yakho. Yilokho esikubiza ngokuthi "umthwali" womuntu onjalo.
Ngokuthakazelisayo, kutholakale ukuthi cishe umuntu oyedwa kwabane bozalo lwama-Ashkenazi angaba ngumthwali walesi sifo sofuzo. Ngakho-ke, leli phaneli lokuhlola izakhi zofuzo lenzelwe ukubikezela ingozi yokuba ngumthwali.
Yiziphi izifo eziyinhloko ezibhekwa yilolu hlolo?
Lokhu kuhlolwa kofuzo kugxile ezifweni eziningana ezingathi sína ezingathinta kakhulu impilo yengane. Nakuba ezinye zazo zinezindlela zokwelapha, azilapheki ngokuphelele. Kwezinye izimo, lezi zingaba yingozi ngisho nangokwengeziwe.
Ake sibheke kalula ezinye zezifo eziyinhloko kuthebula elingezansi.
| Igama Lesifo | Kwenzekani ngalokhu? (Incazelo elula) |
|---|---|
| I-Bloom syndrome | Ingozi yokuba nomdlavuza iphezulu kakhulu. Izimpawu zifaka phakathi umzimba omfushane, izwi elizwakalayo, kanye nesikhumba esishisa kalula elangeni. |
| Isifo saseCanavan | Isifo esithinta uhlelo lwezinzwa oluphakathi. Kungaba khona ukuquleka kanye nokukhubazeka kwengqondo. |
| I-cystic fibrosis | Kuthinta kakhulu izinhlelo zokuphefumula nezokugaya ukudla, okubangela izimpawu ezinzima njengokuminyana kwesifuba nokukhwehlela njalo. |
| I-Fanconi anemia | Lesi yisifo esihlobene negazi. Kukhona ingozi eyengeziwe yokuthola umdlavuza ofana ne-leukemia. |
| Isifo seGaucher | Izinkinga zesibindi kanye ne-spleen, i-anemia, ukopha, kanye nobuhlungu bamathambo kungenzeka. |
| Isifo sikaNiemann-Pick (Uhlobo A) | Kuphazamisa ikhono lomzimba lokuphula amafutha kanye ne-cholesterol. Izimpawu zifaka phakathi ukuvuvukala kwesibindi kanye ne-spleen ezinganeni ezincane. Kungalimaza nesimiso sezinzwa. |
| Isifo sikaTay-Sachs | Isifo esonakalisa uhlelo lwezinzwa. Singabangela ukuquleka, ukulahlekelwa umbono nokuzwa, ubuthakathaka bemisipha, kanye nobunzima bokugwinya. |
Ngaphezu kwalokho, kwenziwa izivivinyo zezinye izifo eziningi ezifana ne-Familial Dysautonomia, i-Mucolipidosis type IV, i-Glycogen Storage 1a, kanye nesifo se-Maple syrup urine.
Ubani okufanele abhale lolu vivinyo? Yisiphi isikhathi esingcono kakhulu?
Manje ungase uzibuze, "Ingabe nami ngidinga ukwenza lokhu kuhlolwa?" Lokhu kuhlolwa kubaluleke kakhulu uma wena, umlingani wakho, noma nobabili ningowozalo lwama-Ashkenazi amaJuda .
Isikhathi esingcono kakhulu sokwenza lokhu kuhlolwa ngaphambi kokuba uhlele nokuba nomntwana.
Kungani kunjalo? Ngoba-ke uzoba nesikhathi esanele sokufunda ngemiphumela, ucabange ngayo, bese uxoxa futhi unqume ukuthi yiziphi izinqumo okufanele uzithathe ngaphandle kwengcindezi.
Ukuhlolwa kwenziwa kanjani futhi kusho ukuthini imiphumela?
Lokhu ukuhlolwa okulula kakhulu. Ngezinye izikhathi kuthathwa isampula yegazi , ngezinye izikhathi kusetshenziswa isampula yamathe . Udokotela wakho angakuthumela kulolu vivinyo. Ngokuvamile kuthatha amasonto ambalwa ukuthi imiphumela ibuye ngemuva kokunikeza isampula.
Manje ake sibone ukuthi imiphumela ithini.
- Uma umphumela ungemuhle: Kusho ukuthi awuyena umthwali wezifo ezihlolwe. Lezi yizindaba ezinhle kakhulu. Akukho okunye ongakwenza.
- Uma umlingani oyedwa kuphela othwala lesi sifo: Uma nobabili nihlolwa futhi oyedwa kuphela kini ethwala lesi sifo, ingane yakho ayikho engozini yokuthola lesi sifo. Kodwa-ke, kunethuba elingu-50% lokuthi ingane nayo izoba yithwala lesi sifo. Lokhu kusho ukuthi ingane ingadlulisela isakhi sofuzo enganeni yayo esikhathini esizayo.
- Uma bobabili abalingani bengabathwali: Yilapho okudingeka sikhathazeke kakhulu khona. Uma nobabili ningabathwali besifo esifanayo, ngokukhulelwa ngakunye, kukhona ingozi engu-25%, noma eyodwa kwabane, yokuthi ingane ithole lesi sifo . Futhi, kunethuba elingu-50% lokuthi ingane ibe ngumthwali kanye nethuba elingu-25% lokuthi ingane ingathinteki.
Uma sobabili singabathwali bezinkampani, yiziphi izinketho zethu?
Kuvamile ukuzizwa udangele futhi ukhathazekile uma uthola umphumela onjengalona. Kodwa into ebaluleke kakhulu ukwazi ukuthi awuwedwa nokuthi unezinketho eziningana ongakhetha kuzo. Kubalulekile ukukhuluma nodokotela wakho ngazo zonke lezi zinto.
Nazi ezinye zezinketho eziyinhloko:
1. Ukusebenzisa amaqanda noma isidoda esinikelwayo: Amaqanda noma isidoda esitholwe kumuntu ongeyena umthwali walesi sifo singasetshenziswa ukukhulelwa umntwana.
2. Ukutholwa: Ukunquma ukutholwa kwengane kungenye indlela enhle.
3. Ukunquma ukungabi nabantwana: Abanye abashadile bangase banqume ukungabi nabantwana ngoba bengafuni ukuthatha le ngozi.
4. Ukuxilongwa Kwezakhi Zofuzo Ngaphambi Kokufakelwa (PGD): Lokhu kwenziwa ngobuchwepheshe be-IVF. Kalula nje, amaqanda kamama kanye nesidoda sikababa kuhlanganiswa elabhorethri ukuze kudalwe ama-embryo amaningana. Bese kuthi ngalinye lalawo ma-embryo lihlolwe, bese kukhethwa ama-embryo anempilo kuphela angathwali i-gene yesifo bese efakwa esibelethweni sikamama.
5. Ukuhlolwa ngesikhathi sokukhulelwa: Eminye imibhangqwana ikhetha ukuhlolwa kwengane yayo ezinyangeni zokuqala zokukhulelwa, ngemva kokukhulelwa okuvamile. Lokhu kungasiza ekunqumeni ukuthi ingane ithintekile yini yilesi sifo noma cha.
Esimweni esinjalo , umeluleki wezakhi zofuzo, okusho ukuthi kubaluleke kakhulu ukubona umeluleki othole ukuqeqeshwa okukhethekile ezifweni zofuzo kanye nokuhlolwa. Bangachaza ngokucacile ukuthi yiziphi izinketho ezikulungele wena nokuthi yini okufanele uyenze ngokulandelayo, ngokusekelwe emiphumeleni yakho.
Umlayezo Wokuya Nawe Ekhaya
- Izifo ezithile zofuzo zivame kakhulu phakathi kwamaqembu athile ezinhlanga, njengamaJuda ase-Ashkenazi.
- Ukuba "ngumthwali" kusho ukuthi awunaso lesi sifo, kodwa unesakhi sofuzo salesi sifo emzimbeni wakho. Ungasidlulisela enganeni yakho.
- Uma bobabili abazali benalesi simo esifanayo, kukhona ingozi engu-25% (oyedwa kwabane) yokuthi ingane ibe nalesi simo ngokukhulelwa ngakunye.
- Isikhathi esingcono kakhulu sokuhlolwa kofuzo njengalesi ngaphambi kokukhulelwa kwengane.
- Uma wena nomlingani wakho nitholakala ukuthi niyimbangela yalesi sifo, kubalulekile ukungesabi futhi nixoxe ngezinketho zenu nodokotela wakho kanye nomeluleki wezakhi zofuzo.
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