Ifa njani i-Sickle Cell Anemia?

Umxholo

• Nguwuphi umahluko phakathi kofuzo olugqwesileyo nolungapheliyo?
• Ngaba i-sickle cell anemia autosomal okanye inxulumene nesondo?
• Ndingazi njani ukuba ndiza kuyidlulisela kumntwana wam ufuzo?
• Ndazi njani ukuba ndingumphathi?
• Umgca wezantsi

Yintoni irhengiya yeseli?

I-Sickle cell anemia yimeko yemfuza ekhoyo ekuzalweni. Iimeko ezininzi zemfuza zibangelwa kukutshintsha okanye ukutshintsha kwemfuza evela kunyoko, utata, okanye bobabini abazali.

Abantu abane-sickle cell anemia baneeseli ezibomvu zegazi ezimile okwecrescent okanye irhengqa. Olu hlobo lungaqhelekanga lubangelwa kukutshintsha kwejini yehemoglobin. IHemoglobin yimolekyuli ekwiiseli ezibomvu zegazi ezibavumela ukuba bahambise ioksijini kwizicwili emzimbeni wakho wonke.

Iiseli ezibomvu ezimile okwe rhengqa zingakhokelela kubunzima obahlukeneyo. Ngenxa yobume bayo obungaqhelekanga, banokuncamathela ngaphakathi kwimithambo yegazi, ekhokelela kwiimpawu ezibuhlungu. Ukongeza, iiseli zerheng zifa msinyane kuneeseli ezibomvu zegazi, ezinokukhokelela kwi-anemia.

Eminye, kodwa ayisiyiyo yonke, imeko yemfuza inokufunyanwa kwilifa komnye okanye bobabini abazali. I-Sickle cell anemia yenye yezi meko. Ipateni yelifa layo kukuphindaphinda autosomal. Athetha ntoni la magama? Igqalwa njani i-sickle cell anemia ukusuka kumzali kuye emntwaneni? Funda ukuze ufunde ngakumbi.

Nguwuphi umahluko phakathi kofuzo olugqwesileyo nolungapheliyo?

I-Geneticists isebenzisa amagama aphezulu kunye nokuphindaphindiweyo ukuchaza amathuba okuba kudluliselwe kwisizukulwana esilandelayo.

Uneekopi ezimbini zemfuza nganye-enye isuka kumama wakho kwaye enye ivela kutata wakho. Ikopi nganye yemfuza ibizwa ngokuba yi-allele. Unokufumana i-allele ephezulu kumzali ngamnye, i-allele engapheliyo kumzali ngamnye, okanye omnye komnye.

Ii-alleles eziphambili zihlala zigqithisa ii-alleles eziqhubekayo, kungoko igama labo. Umzekelo, ukuba uzuza njengelifa i-allele engapheliyo kutata wakho kunye neyona iphambili evela kunyoko, uya kuhlala ubonakalisa uphawu olunxulunyaniswa ne-allele ephezulu.

Uphawu lwe-sickle cell anemia trait lufumaneka kwi-allele engapheliyo ye-hemoglobin gene. Oku kuthetha ukuba kuya kufuneka ube neekopi ezimbini ze-allele eziguqukayo-enye ivela kunyoko kwaye enye kuyihlo-ukuze ubenayo imeko.

Abantu abanekopi enye elawulayo kunye nekopi enye ye-allele abayi kuba ne-sickle cell anemia.

Ngaba i-sickle cell anemia autosomal okanye inxulumene nesondo?

I-Autosomal kunye nezesondo ezinxulumene nesini zibhekisa kwi-chromosome ekhoyo.

Iseli nganye yomzimba wakho iqulethe ii-chromosomes ezingama-23. Kwisibini ngasinye, enye i-chromosome izuzwe njengelifa ivela kunyoko kunye nenye evela kutata wakho.

Iibini ezingama-22 zokuqala ze-chromosomes zibizwa ngokuba yi-autosomes kwaye ziyafana phakathi kwamadoda nabasetyhini.

Iipromosomes zesibini zokugqibela zibizwa ngokuba ziichromosomes zesini. Ezi chromosomes zahlukile phakathi kwesini. Ukuba ungumfazi, ufumene i-X chromosome evela kunyoko kunye ne-X chromosome evela kuyihlo. Ukuba uyindoda, ufumene i-X chromosome evela kumama wakho kunye ne-Y chromosome evela kuyihlo.

Ezinye iimeko zemfuza zinxulumene ngesondo, oko kuthetha ukuba i-allele ikhona kwi-X okanye Y ye-chromosome yesini. Ezinye zizenzekelayo, oko kuthetha ukuba i-allele ikhona kwenye yee-autosomes.

I-sickle cell anemia allele i-autosomal, oku kuthetha ukuba inokufumaneka kwenye yee-22 ze-chromosomes, kodwa hayi kwi-X okanye kwi-Y chromosome.

Ndingazi njani ukuba ndiza kuyidlulisela kumntwana wam ufuzo?

Ukuze ube ne-sickle cell anemia, kufuneka ube neekopi ezimbini ze-cell allele ephindaphindiweyo. Kodwa kuthekani ngabo banekopi enye kuphela? Aba bantu baziwa njengabathwali. Kuthiwa baneempawu zerhengqa, kodwa hayi iarhente yeseli yegazi.

Abathwali banezinto ezibalaseleyo ezibalaseleyo kunye nezihlala zikhona kwakhona. Khumbula, i-allele ebalaseleyo ihlala igqitha ngaphezulu, ngenxa yoko abathwali ngokubanzi abanazo naziphi na iimpawu zale meko. Kodwa banokudlulisa i-allele eqhubekayo kubantwana babo.

Nantsi imizekelo embalwa yokubonisa indlela enokwenzeka ngayo le nto:

• Imeko yoku-1. Akukho mzali une-sickle cell elele ngokupheleleyo. Akukho namnye wabantwana babo oya kuba ne-sickle cell anemia okanye abe ngumntu ophethe i-allele engapheliyo.
• Imeko 2. Omnye umzali ungumthuthi ngelixa omnye engekho. Akukho namnye wabantwana babo oya kuba ne-sickle cell anemia. Kodwa kukho ithuba leepesenti ezingama-50 lokuba abantwana baya kuba ngabathwali.
• Imeko 3. Bobabini abazali bangabathwali. Kukho amathuba angama-25 eepesenti okuba abantwana babo bafumane ii-alleles ezingaphezulu, ezibangela i-sickle cell anemia. Kukwakho nepesenti ezingama-50 zokuba baya kuba ngabaphathi. Okokugqibela, kukwakho nepesenti ezingama-25 zamathuba okuba abantwana babo bangazukuthwala i-allele kwaphela.
• Imeko 4. Omnye umzali akangomntu ophetheyo, kodwa omnye une-sickle cell anemia. Akukho namnye wabantwana babo oya kuba ne-sickle cell anemia, kodwa bonke baya kuba ngabathwali.
• Imeko 5. Omnye umzali uyisiphatho kwaye omnye une-sickle cell anemia. Kukho amathuba angama-50 epesenti okuba abantwana baya kuba ne-sickle cell anemia kunye neepesenti ezingama-50 zokuba baya kuba ngabathwali.
• Imeko 6. Bobabini abazali bane-sickle cell anemia. Bonke abantwana babo baya kuba ne-sickle cell anemia.

Ndazi njani ukuba ndingumphathi?

Ukuba unembali yosapho ye-sickle cell anemia, kodwa awunayo ngokwakho, ungangumphathi. Ukuba uyazi abanye kusapho lwakho banalo, okanye awuqinisekanga ngembali yosapho lwakho, uvavanyo olulula lunokukunceda ekuqinisekiseni ukuba uyiphethe na iallele cell allele.

Ugqirha uza kuthatha isampulu yegazi encinci, ihlala ivela ezandleni zomntu, ayithumele elebhu ukuze ihlolwe. Nje ukuba iziphumo zilungile, umcebisi wezofuzo uya kuhamba nazo aze akuncede uqonde umngcipheko wokudlulisela abantwana bakho.

Ukuba uphethe i-allele engapheliyo, yinto efanelekileyo yokuba neqabane lakho lithathe uvavanyo ngokunjalo. Usebenzisa iziphumo zovavanyo lwakho zombini, umcebisi wemfuza unokukunceda ukuba uqonde ukuba i-sickle cell anemia inganakho okanye ingabachaphazeli njani na abantwana bexesha elizayo eninabo kunye.

Umgca wezantsi

I-Sickle cell anemia yimeko yemfuza ene-autosomal patency yelifa. Oku kuthetha ukuba imeko ayihambelani nee-chromosomes zesini. Umntu othile kufuneka afumane iikopi ezimbini ze-allele ezingapheliyo ukuze abenemeko. Abantu abanesimo esinye esilawulayo kunye nesinye esingaguqukiyo kubhekiswa kubo njengabathwali.

Zininzi iimeko ezahlukeneyo zelifa le-sickle cell anemia, kuxhomekeka kwimfuzo yabazali bobabini. Ukuba unenkxalabo yokuba wena okanye iqabane lakho ninokudlulisa i-allele okanye imeko kubantwana bakho, uvavanyo olulula lwemfuza lunokukunceda uhambe kuzo zonke iimeko ezinokubakho.