I-Sickle Cell Anemia Ifa Kanjani?

-Delile

• Uyini umehluko phakathi kofuzo olubusayo nolweqile?
• Ingabe i-sickle cell anemia autosomal noma ixhumene nocansi?
• Ngingazi kanjani ukuthi ngizodlulisela ufuzo enganeni yami?
• Ngazi kanjani ukuthi ngiwuthwali?
• Okubalulekile

Yini i-sickle cell anemia?

I-Sickle cell anemia yisimo sofuzo esikhona kusukela ekuzalweni. Izimo eziningi zofuzo zibangelwa izakhi zofuzo eziguquliwe noma eziguquliwe ezivela kumama wakho, ubaba wakho, noma bobabili abazali.

Abantu abane-sickle cell anemia banamaseli abomvu egazi abunjwe njenge-crescent noma isikela. Lesi simo esingajwayelekile singenxa yokuguquka kwesakhi sofuzo se-hemoglobin. IHemoglobin yi-molecule esemangqamuzaneni abomvu egazi evumela ukuthi ihambise umoya-mpilo ezicutshini emzimbeni wakho wonke.

Amaseli abomvu amile okwegazi angaholela ezinkingeni ezahlukahlukene. Ngenxa yesimo sabo esingajwayelekile, bangabambeka ngaphakathi kwemithambo yegazi, okuholele ezimpawu ezibuhlungu. Ngokwengeziwe, amangqamuzana amasikela abulawa ngokushesha kunamaseli abomvu ejwayelekile, angaholela ekushoneni kwegazi.

Ezinye, kepha hhayi zonke, izimo zofuzo zingazuzwa njengefa kumzali oyedwa noma bobabili. I-Sickle cell anemia ingenye yalezi zimo. Iphethini yayo yefa iwukuphindaphinda okuzenzakalelayo. Asho ukuthini la magama? Ingabe idluliselwa kanjani ngempela i-sickle cell anemia isuka kumzali iye enganeni? Qhubeka ufunde ukuze ufunde kabanzi.

Uyini umehluko phakathi kofuzo olubusayo nolweqile?

Izazi zofuzo zisebenzisa amagama aqakathekileyo futhi abuyiselayo ukuchaza amathuba okuthi isici esithile sidluliselwe esizukulwaneni esilandelayo.

Unamakhophi amabili ohlobo ngalunye lofuzo lwakho - elinye livela kumama wakho elinye livela kuyihlo. Ikhophi ngayinye yofuzo ibizwa ngokuthi i-allele. Ungathola i-allele ephezulu evela kumzali ngamunye, i-allele eguquguqukayo evela kumzali ngamunye, noma omunye wabo.

Ama-alleles amakhulu avame ukwedlula ama-alleles amaningi, yingakho igama lawo. Isibonelo, uma udla ifa le-allele eyeqile evela kubaba wakho futhi ephezulu evela kumama wakho, uvamise ukubonisa isici esihambisana ne-allele evelele.

Isici se-sickle cell anemia sitholakala kokuphindaphindeka kofuzo lwe-hemoglobin. Lokhu kusho ukuthi kufanele ube namakhophi amabili e-allele eguquguqukayo - eyodwa evela kumama wakho kanti eyodwa ivela kubaba wakho - ukuze ube nalesi simo.

Abantu abanekhophi eyodwa evelele neyodwa eyeqile ye-allele ngeke babe ne-sickle cell anemia.

Ingabe i-sickle cell anemia autosomal noma ixhumene nocansi?

I-Autosomal ne-sex-exhumene ibhekisa kwi-chromosome okukhona kuyo i-allele.

Iseli ngalinye lomzimba wakho liqukethe ama-chromosomes angama-23. Kuwo womabili la maqembu, i-chromosome eyodwa izuzwe njengefa kumama wakho kanti enye ivela kukayihlo.

Ama-chromosomes angama-22 okuqala abizwa ngama-autosomes futhi ayafana phakathi kwabesilisa nabesifazane.

Ama-chromosomes amabili okugcina abizwa ngama-chromosomes ezocansi. Lawa ma-chromosomes ayahluka phakathi kobulili. Uma ungowesifazane, uthole i-X chromosome evela kumama wakho ne-X chromosome evela kuyihlo. Uma ungowesilisa, uthole i-X chromosome evela kumama wakho ne-Y chromosome evela kuyihlo.

Ezinye izimo zofuzo zixhumene nocansi, okusho ukuthi i-allele ikhona kwi-X noma Y ye-chromosome yocansi. Ezinye ziyi-autosomal, okusho ukuthi i-allele ikhona kwenye yama-autosomes.

I-sickle cell anemia allele i-autosomal, okusho ukuthi ingatholakala kwelinye lama-chromosomes angama-22, kepha hhayi kwi-X noma Y chromosome.

Ngingazi kanjani ukuthi ngizodlulisela ufuzo enganeni yami?

Ukuze ube ne-sickle cell anemia, kufanele ube namakhophi amabili we-allele cell cell allele. Kepha kuthiwani ngalabo abanekhophi eyodwa kuphela? Laba bantu baziwa njengabathwali. Kuthiwa banesici se-sickle cell, kodwa hhayi i-sickle cell anemia.

Abathwali bane-allele eyodwa evelele futhi eyehla kakhulu. Khumbula, i-allele ebusayo ivame ukweqa eyeqile, ngakho-ke abathwali ngokuvamile abanazo izimpawu zalesi simo. Kepha basengadlulisela ukuleleka ngokweqile ezinganeni zabo.

Nazi izibonelo ezimbalwa zezimo ukukhombisa ukuthi lokhu kungenzeka kanjani:

• Isimo 1. Akekho umzali one-allele cell eyelele. Akekho ezinganeni zabo ozoba ne-sickle cell anemia noma abe ngabathwali be-allele eyeqile.
• Isimo 2. Omunye umzali ungumthwali kanti omunye akayona. Akekho ezinganeni zabo ozoba ne-sickle cell anemia. Kodwa kunethuba elingamaphesenti angama-50 lokuthi izingane zizoba ngabathwali.
• Isimo 3. Bobabili abazali bangabathwali. Kunethuba elingamaphesenti angama-25 lokuthi izingane zabo zizothola ama-alleles amabili aphindaphindiwe, okudala i-sickle cell anemia. Kukhona nethuba elingamaphesenti angama-50 lokuthi bazoba ngabathwali. Okokugcina, kunamathuba angamaphesenti angama-25 okuthi izingane zabo zingathwali i-allele nhlobo.
• Isimo 4. Omunye umzali akayena umthwali, kodwa omunye une-sickle cell anemia. Akukho neyodwa ezinganeni zabo ezoba ne-sickle cell anemia, kodwa bonke bazoba ngabathwali.
• Isimo 5. Omunye umzali unguthwali kanti omunye une-sickle cell anemia. Kunethuba elingamaphesenti angama-50 lokuthi izingane zizoba ne-sickle cell anemia kanye namathuba angama-50 okuba ngabathwali.
• Isimo 6. Bobabili abazali bane-sickle cell anemia. Zonke izingane zabo zizoba ne-sickle cell anemia.

Ngazi kanjani ukuthi ngiwuthwali?

Uma unomlando womndeni we-sickle cell anemia, kodwa awunayo ngokwakho, ungaba yisithwali. Uma wazi ukuthi abanye emndenini wakho banayo, noma awunasiqiniseko ngomlando womndeni wakho, ukuhlolwa okulula kungasiza ekunqumeni ukuthi ngabe uphethe i-allele cell allele.

Udokotela uzothatha isampuli encane yegazi, imvamisa ayithathe eminweni yomunwe, ayithumele elabhorethri iyohlolwa. Lapho nje imiphumela isilungile, umeluleki wezofuzo uzohamba nayo ukuze akusize uqonde ingozi yakho yokudlulisela i-allele ezinganeni zakho.

Uma uphethe i-allele eyeqile, kuwumqondo omuhle ukuthi umlingani wakho naye enze isivivinyo. Usebenzisa imiphumela yakho kokubili ukuhlolwa, umeluleki wezofuzo anganisiza nobabili niqonde ukuthi i-sickle cell anemia ingathinta noma ingathinti kanjani noma yiziphi izingane zesikhathi esizayo eninazo ndawonye.

Okubalulekile

I-Sickle cell anemia yisimo sezakhi zofuzo esinephethini yefa le-autosomal recessive. Lokhu kusho ukuthi isimo asixhunyiwe kuma-chromosomes ocansi. Othile kufanele athole amakhophi amabili e-allele eyeqile ukuze abe nalesi simo. Abantu abane-allele eyodwa ebusayo neyodwa eguquguqukayo kubhekiselwa kubo njengabathwali.

Kunezimo eziningi zamafa ezahlukahlukene ze-sickle cell anemia, kuya ngofuzo lwabazali bobabili. Uma ukhathazekile ngokuthi wena noma umlingani wakho nikwazi ukudlulisa ukuvelela noma isimo ezinganeni zenu, ukuhlolwa kofuzo okulula kungakusiza uzulazule kuzo zonke izimo ezingaba khona.