Hemophilia - yilokhu isifo? is futhi yiziphi kanjani izimpawu hemophilia?

Ukuze abangenalwazi kakhulu abantu hemophilia - okubizwa ngokuthi isifo bobukhosi, ukwazi kuphela emlandweni: Bathi, ke wahlupheka Tsarevich Alexei. Ngenxa yokuntula ulwazi, abantu ngokuvamile ukukholelwa ukuthi abantu abavamile abakwazi bagule nge hemophilia. Kukholakala ukuthi ithinta kuphela ezikhathini zasendulo. Sekuyisikhathi eside sengqondo esifanayo waba "ahlukile" sifo. Nokho, uma sifo - isifo Amandla, futhi manje kungaba kuncike kunoma yimuphi umuntu, ukuthi hemophilia - nesifo esiwufuzo, futhi ungathola noma iyiphi ingane, okhokho kwadingeka sifo.

Kuyini Hemophilia?

Kubantu, isifo sibizwa ngokuthi "igazi ewuketshezi." Ngempela, isakhiwo yayo sokugembula, kanye nekhono ke ebucayini ukuze ihlule. Bhala kancane - kanye ukopha kunzima ukukuyeka. Nokho, kuba ukubonakaliswa kwangaphandle. yangaphakathi esinzima kakhulu kangakanani okwenzeka emalungeni, esiswini, izinso. Ukopha kuzo kungenziwa ngokuthi ngisho ngaphandle ithonya ngaphandle kuyimiphumela yingozi.

Ukuze igazi coagulation wemfanelo amaprotheni nambili ethize okufanele khona igazi lokuhlushwa eziqondile. isifo Hemophilia sitholakale esenzakalweni esisodwa salezi amaprotheni engekho nhlobo noma likhona emakamu enganele.

izinhlobo hemophilia

Kwezokwelapha, kukhona izinhlobo ezintathu zesifo.

1. Hemophilia A. Ngokuthi ukungabi noma ukungabi coagulation-factor VIII. Uhlobo oluvame kakhulu lesi sifo, ngokusho izibalo, amaphesenti angu-85 kuzo zonke izimo. Ngokwesilinganiso, nosana 10 000 nje isiguli ezifana ne hemophilia.
2. Hemophilia B. Uma waphawula nezinkinga isici ngaphansi inombolo IX. Make njengoba ezingavamile kakhulu: it ingozi iyagula liphindwe kasithupha ngaphansana esimweni inketho A.
3. Hemophilia C entula inombolo isici XI. Lolu hlobo uhlukile: it libhekene kokubili amadoda nabesifazane. Ngaphezu kwalokho, ngokuvamile kabi Ashkenazi amaJuda (okuyinto ngokuvamile akuyona ejwayelekile nganoma yisiphi izifo ngokuvamile kukhona international kanye "isaziso" ezifanayo kuzo zonke izinhlanga, izizwe namaqembu ezinhlanga). Nge ukubonakaliswa hemophilia futhi akhishwe jikelele isithombe yomtholampilo, ngakho eminyakeni yamuva, ithathwa kusukela uhlu hemophilia.

Kufanele kuqashelwe ukuthi ingxenye eyodwa kwezintathu imikhaya lesi sifo kwenzeka (noma kutholakale ukuthi une) okokuqala, kuba ukushaqeka abazali ungakulungele.

Kungani kwenzeka isifo?

umsunguli wayo iba azalwa naso hemophilia isakhi sofuzo, esemgwaqweni-X chromosome. Inkampani yenethiwekhi kungowesifazane, uthe akulona nesineke, ngaphandle ukuthi kungaba umongozima njalo, esikhathini esindayo kakhulu, noma kancane ephulukisa amanxeba ezincane (isib, ngemva lo wakhipha amazinyo). Isakhi kuyinto esikhubazayo, ngigule kangaka akubona bonke abanezincwadi umama - othwala isifo. Ngokuvamile, okungenzeka isakazwa 50:50. It kwandisa uma umndeni has nobaba. Girls futhi abathwali isakhi sofuzo Kuphoqelekile.

Kungani hemophilia - isifo ngoba amadoda

Njengoba sekushiwo, isakhi sofuzo hemophilia kuyinto esikhubazayo futhi unamathele chromosome, ukubizwa ngokuthi X. In abesifazane, lezi chromosome amabii. Uma omunye isakhi sofuzo enjalo wamshaya, kuba buthaka futhi yesibili ukuyiveza, evelele, kangangokuba akusekho kuphela isithwali intombazane, okuyothi idluliselwa hemophilia, kodwa uqobo engumqemane. Kungenzeka ukuthi kokubili ukuba akhulelwe X chromosome ingaqukatha isakhi sofuzo okuhambisanayo. Nokho, ngesikhathi kumiswa izithelo siqu ohlelweni lwabo kwegazi (futhi lokhu kwenzeka ngesikhathi ngesonto ikota sokukhulelwa) kuba engasimeme, futhi kukhona isisu nokuguqulwa (yisisu). Njengoba into enjalo kungaba ngenxa yezizathu ezihlukahlukene, ngokuvamile akukho izifundo samoabortnogo ngeke kwenziwe, ukuze izibalo ngalolu daba akukho.

Enye into - amadoda. Banezinhliziyo yesibili X chromosome alikho, indawo Y. evelele "XXX" akuyona, ngakho uma sibonisa esikhubazayo ngokwayo, uqala ukugeleza sifo kunokuba esimweni saso esicashile. Nokho, ngenxa yokuthi le-chromosome namanje ezimbili, ematfuba ukuthuthukiswa ngesakhiwo ezifana ncamashi kwesigamu kubo bonke lobo bunzima.

Izimpawu ze-hemophilia

Abakwazi ukuzibonakalisa ngesikhathi sokuzalwa, uma isici efanele emzimbeni cishe akukho nhlobo, futhi ungenza ngokwayo wazizwa kuphela ngokuhamba kwesikhathi uma kukhona ukungabi nayo.

1. Ukopha ngokungabi bikho yezizathu ezisobala. Ngokuvamile umntwana ozalwa streaks kwegazi emakhaleni, emehlweni, inkaba, futhi kunzima ukuba ukopha.
2. Hemophilia (isithombe show), kubonakala ku emikhulu nemihuzuko evuvukele ujuqu ngokuphelele abangelutho (isibonelo, umunwe ingcindezi).
3. Okuphindaphindayo ukopha efana isilonda kakade, elashwe nokwelashwa.
4. Ukwandiswa ukopha yasendlini: ekhaleni, izinsini ngisho nalapho uxubha amazinyo.
5. Ukopha ku amalunga omzimba.
6. igazi umchamo kanye endleni.

Nokho, "Izimpawu" enjalo lokho akusho ukuthi khombisa imayelana hemophilia. Ngokwesibonelo, umongozima kungase kubonise ubuthakathaka Imithambo yegazi, igazi umchamo - izifo kwezinso futhi kwesihlalo - isifo. Ngakho-ke nakanjani sibe ucwaningo olwengeziwe.

Ukuhlonza hemophilia

Ngaphezu kokutadisha umlando yezokwelapha isiguli kanye ekuhloleni kwakhe ezihlukahlukene Ochwepheshe olwenziwa ezikhungweni zocwaningo. Endaweni yokuqala kunqunywa khona egazini zonke izici coagulation futhi ingqondo. Ukusetha isikhathi kwathatha for the coagulation isampula yegazi. Ngokuvamile lokhu kuhlola ahambisana nocwaningo DNA. ukuzimisela kungase kudingeke ukuxilongwa esinembile:

• isikhathi thrombin;
• kabili exubile;
• prothrombin Inkomba;
• inani fibrinogen.

Ngezinye izikhathi eceliwe nolwazi olukhethekile. Yiqiniso, ifakwe imishini ezifanele, hhayi zonke esibhedlela, ngakho nge hemophilia esolwa ithunyelwa lab igazi.

Lesi sifo, okuyinto kuhambisana hemophilia (isithombe)

Isici iningi hemophilia - kuyinto ukopha articular. Igama yezokwelapha - gemoartroz. Kutfutfukisa kunalokho ngokushesha, nakuba eyinqaba kakhulu iziguli hemophilia ezinzima. Bona ukopha emalungeni zenzeka ngaphandle kwethonya zangaphandle, angesabi. Ezintsha okufanele kumkhathaze gemoartroza ukulimala edingekayo. Amalunga iyathinteka ngokuyinhloko yilabo bacindezelekile, okungukuthi, amadolo, hip pristopnye. Okwesibili emgqeni - ngemva kwabo - endololwaneni. Izimpawu zokuqala manifest gemoartroza usuvele unayo ingane eneminyaka eyisishiyagalombili. Ngenxa izilonda articular iziguli kakhulu ukuthola ukukhubazeka.

isitho abasebucayini: izinso

isifo Hemophilia ngokuvamile kubangela ukubukeka igazi umchamo. Ibizwa ngokuthi hematuria; uqhubeke kahle, nakuba uphawu namanje uhlala elishaqisayo. Cishe ingxenye haematuria kuhambisana isikhathi eside ubuhlungu oyingozi. colic njalo kwezinso kubangelwa amahlule baphokophelele ureter. I ngokuvamile in iziguli hemophilia pyelonephritis, wazilandela eduze by imvamisa nesenzakalo - hydronephrosis, futhi muva nje wathatha sclerosis capillary. Ukwelashwa kwezifo kwezinso nzima kwezithibelo ezithile phezu izidakamizwa imithi: yini esenza sibe liquefaction yegazi, ngeke isetshenziswe.

ukwelashwa hemophilia

Ngeshwa, hemophilia - kuhle kwesifo esingelapheki esidluliselwa obuhambisana ukuphila komuntu. Hhayi ukucabanga ngenye indlela ukuthi ungakwazi ukuphoqa umzimba ukuba ukhiqize i-amaprotheni oyifunayo, uma akakwazi ukukwenza kusukela ekuzalweni. Nokho, intuthuko kwezokwelapha zanamuhla enze kube nokwenzeka ukuba silondoloze umzimba ezingeni lapho abantu hemophilia, ikakhulukazi hhayi kakhulu ezinzima, kungaholela khona cishe evamile. Ukuvimbela ukopha hematoma zidinga ukumnika njalo izixazululo ulahlekile ekunqandeni izici. Basuke behlukene igazi abanikele womuntu sakhula umnikelo kwezilwane. Administration izidakamizwa linesisekelo unomphela njengoba yokuvimbela nokwelapha uma ukuhlinzwa oluzayo noma ukulimala.

Ngo parallel, hemophiliacs kumele njalo avume ukwelashwa ngokomzimba ukuze ulondoloze impilo ngokuhlanganyela. Uma inkulu kakhulu, kuba yingozi hematoma udokotela ohlinzayo kwenza eyohlinzwa ukuze uwasuse.

Njengoba kudingeka ukumpontshelwa izidakamizwa wenza ngesisekelo igazi, isifo hemophilia kwandisa ingozi ukuze uthole i-hepatitis viral, cytomegalovirus ukutheleleka, i-herpes, futhi - okubi kakhulu - HIV. Ngokungangabazeki, bonke abathekelisa ngegazi bahlolelwa ukuphepha ngegazi labo, kodwa ukuze kuqinisekwe ukuthi akekho umuntu ongakwenza eyodwa.

hemophilia atholwe

Ezimweni eziningi, hemophilia omkhulu sitholwa njengefa. Nokho, zikhona izibalo ezithile lapho ukuvela e abadala, ngaphambili ngaphandle umlando ke. Ngenhlanhla, izimo ezinjalo ezingajwayelekile kakhulu - elilodwa noma amabili abantu ngamunye million. Iningi benaso lesi sifo, ngokuba abaneminyaka engaphezu kuka-60. Ngezindaba zonke zamacala, haemophilia atholwe - uhlobo A. Kuyaphawuleka ukuthi izizathu okuyinto Kwathi, wathola engaphansi kwengxenye iziguli. Phakathi kwalezi umdlavuza, ukudla imithi ethile, isifo sokuhlasela kwamasosha omzimba, akuvamile kakhulu - sokugembula, nge okuvela ezinzima, ukukhulelwa ngemuva kwesikhathi. Kungani abanye begula, lungaqalwa odokotela.

isifo uVictoria

Icala lokuqala izifo atholwe kuchazwa Isibonelo eNdlovukazini uVictoria. Kwaphela isikhathi eside lalibhekwa kuphela into efana nayo, njengoba engekho wakhe, futhi cishe isigamu sekhulu leminyaka ngemva hemophilia kwabesifazane awuzange waphawula. Nokho, ngekhulu leminyaka lamashumi amabili, kanye nomhlaba obhekwe izibalo ku yokufuna isifo wasebukhosini, indlovukazi esiyingqayizivele ayikwazi kubhekwe: hemophilia, eyabonakala emva kokubelethwa, okungezona ngofuzo, akuxhomekile ubulili ogulayo.