Izingane zidinga insimbi ekudleni kwazo, yingakho abazali abaningi bezama ukuqinisekisa ukuthi izingane zabo zidla ukudla okuningi okunezinsimbi ngosuku ngalunye. Ngaphandle kwensimbi, bafaka engozini yokwehluleka kwe-iron anemia .
Kwenzekani uma uthola insimbi eningi kakhulu, noma kunjalo?
Ngenhlanhla, lokho akuyona inkinga yezingane eziningi, njengoba umzimba wabo ulawula ukuthi ingakanani insimbi ayithatha futhi ayigcine. Kodwa uma bane-hemochromatosis, isifo sofuzo esingazuza njengefa kubazali bengane, ingane ingakwazi ukuthola insimbi eningi kakhulu, okuholela ekubeni insimbi eyengeziwe igcinwe esibindi sesibindi, inhliziyo, ama-pancre kanye nezinye izitho.
Izimpawu ze-Hemochromatosis
Izimpawu, izimpawu nezinkinga ezihambisana ne-hemochromatosis zingagcina zihlanganisa:
- ubuhlungu obuhlangene (i-arthralgia) ne-arthritis
- ukukhathala
- kunciphise amandla
- ukulahlekelwa isisindo
- ubuhlungu besisu
- ukulahlekelwa izinwele
- izinkinga zenhliziyo, kuhlanganise nokushaya inhliziyo nokuhluleka kwenhliziyo nokuhlelwa kwe-arrhythmias
- isifo sesibindi, sinesibindi esikhulu (i-hepatomegaly), i-cirrhosis, nokuhluleka kwesibindi
- i-gray noma i-bronze isikhumba sokudula
- hypothyroidism
- isifo sikashukela
- ukungabi namandla
- i-amenorrhea (ukungabi khona kwesikhathi)
Iningi lezingane ezine-hemochromatosis azikho izimpawu, kodwa, njengoba izimpawu zingase zingakhulumi kuze kube yilapho esikhathini eside ekuphileni, njengoba insimbi eyengeziwe ikhiwa emzimbeni wabo.
Ukuthola i-Hemochromatosis
Njengoba izingane ezine-hemochromatosis ngokuvamile zingenayo izimpawu okwamanje, zingaba nzima ukuxilongwa. Isimo esivamile ukuthi isihlobo esiseduze sitholakala nge-hemochromatosis futhi ngenxa yokuthi isifo sofuzo, amanye amalungu omndeni ahlolwa.
Ngakho ingane ingase ihlolwe udokotela wezingane ngisho nangaphambi kokuba abe nezimpawu, ngenxa yomlando wakhe womndeni.
Ukuhlola i-hemochromatosis kungabandakanya ukuhlolwa kwegazi ukukala inani lensimbi emzimbeni wengane, kuhlanganise nokufuna i:
- ukuphakanyiswa kwe-transferrin ephezulu
- ferritin ephakeme
- i-serum yensimbi ephakeme
- kunciphise amandla okubopha insimbi yonke (TIBC)
Lokhu kubizwa ngokuthi iphaneli yensimbi kuma-labs amaningi.
Ukuvivinya I-Genetic ye-Hemochromatosis
Kungenzeka futhi ukwenza ukuhlolwa kofuzo ukuze ubheke isakhi esiyiphutha (i-HFE gene) edala i-hemochromatosis yefa, kuhlanganise ne-C282Y, H63D, kanye nezinguquko ze-S65C. Izingane ezinamakhophi amabili ezakhi zofuzo ze-HFE zizoba ne-hemochromatosis (zisengozini enkulu yezimpawu uma zinamakhophi amabili wegciwane eliguquguqukayo elifanayo), kanti uma zinezinye izakhi zofuzo ezithintekayo, khona-ke zizobe zithwala futhi ngeke ihlakulele noma yiziphi izimpawu ze-hemochromatosis.
Indima yokuhlolwa kwezingane ngokofuzo nokho ingxabano encane. Khumbula ukuthi i-American Academy of Pediatrics ithi "ukunciphisa ukugula noma ukufa ngenxa yokuhlolwa kofuzo akuzange kuboniswe ngezimo eziningi lapho kuhlolwa khona ukuhlolwa kwangaphambili," nokuthi "ulwazi lwezinga eliphezulu lobungozi lingabangela izimpendulo ezingalungile ezingokwengqondo futhi, mhlawumbe, ukucwaswa ngabashuwalense, abaqashi, noma abanye. "
Ngokuvamile, ngezimo eziningi, kufaka phakathi i-hemochromatosis, batusa ukunciphisa ukuhlolwa kwe-genetic kuze kube yilapho ingane ikhulile noma ikwazi ukwenza isinqumo esinolwazi nolwazi.
Esinye isizathu esihle sokuqeda ukuhlolwa kwe-genetic ukuthi abantu abangaba ngu-50 kuphela abahlolwayo nge-hemochromatosis baqhubeka beba nezimpawu.
Ngakolunye uhlangothi, izazi ze-National Human Genome Research Institute zithi "kusukela ukuxilongwa kwangaphambili kusho ukwelashwa okusheshayo nokuphathwa kwezifo eziphumelelayo, kungase kube nezinzuzo ekuboneni izingane ezisengozini." Baphinde balondoloze ukuthi "ukuhlolwa kofuzo kubhekwa kuwusizo emibhangqwaneni ehlela ukuba nomndeni."
Ngokuvamile, izingane zivame ukucatshangwa ukuthi zihlolwe i-hemochromatosis uma:
- bobabili abazali bane-hemochromatosis (ingane izoba ne-hemochromatosis nayo)
- umzali oyedwa unalo i-hemochromatosis kanti enye yinkampani yenethiwekhi ye-hemochromatosis (50% amathuba ingane iyoba ne-hemochromatosis)
- bobabili abazali bayithwala ye-hemochromatosis (25% ithuba ingane iyoba ne-hemochromatosis)
Uma umzali engatholakali ukuhlola izakhi zofuzo, ungalinganisa ingozi yomuntu yokuthola izakhi zofuzo ze-hemochromatosis kuye ngokuthi yiliphi ilungu lomndeni elinalo i-hemochromatosis:
- uma umalume wakho noma umalume une-hemochromatosis, khona-ke ithuba lakho lokuba nezakhi zofuzo ze-hemochromatosis cishe ngo-1%
- uma omunye wabazali bakho ene-hemochromatosis, khona-ke ithuba lakho lokuba nezakhi zofuzo ze-hemochromatosis cishe ngo-5%
- uma umfowenu noma udadewabo u-hemochromatosis, khona-ke ithuba lakho lokuba nezakhi zofuzo ze-hemochromatosis cishe ngo-25%
Futhi khumbula ukuthi ochwepheshe abaningi batusa ukuthi ukuhlolwa kofuzo kugcinwe amalungu omndeni omdala wabantu abane-hemochromatosis, esikhundleni sokwenza ukuhlolwa kofuzo kubantwana emndenini.
Futhi, uma umzali oyedwa ene-hemochromatosis kanti omunye umzali unesimo sokuhlolwa kofuzo futhi uboniswa ukuthi awunayo i-hemochromatosis izakhi zofuzo, kungenzeka ukuthi ingane ayidingi ukuhlolwa, ngoba uyithwala kuphela. Uma umzali oyedwa engumthwali futhi omunye umzali engalungile, khona-ke lapho ingane ingase ihlole khona ukuze ibone ukuthi ungumuntu ophethe noma cha.
Ukwelashwa kwe-Hemochromatosis
Ukwelashwa okuyinhloko kwe-hemochromatosis yi-phlebotomy yokwelashwa, lapho isiguli sinesinye segazi labo (cishe 500 ml) isuswe isonto ngalinye. Njengoba iningi lensimbi emzimbeni wabo kugazini labo, lena yindlela enhle yokuthola insimbi eyengeziwe emzimbeni wabo, okuqhubeka nokwenza igazi elingaphezulu.
Ezinye izindlela zokwelapha zingafaka phakathi ukwelashwa kwe-chelation ne-deferoxamine nokunciphisa ukudla okune-high-iron, amavithamini ensimbi, i-vitamin C (engakwandisa ukumunca kwensimbi), utshwala, kanye ne-shellfish eluhlaza (ngenxa yobungozi bokutheleleka kuma-bacteria ku-shellfish eluhlaza) .
Okufanele Ukwazi Nge-Hemochromatosis Ye-Hereditary
Ezinye izinto zokwazi mayelana ne-hemochromatosis yefa ezifuywayo zihlanganisa ukuthi:
- I-herochromatosis ye-Hereditary iyinkinga yokugcina izakhi zofuzo ezizimele futhi ijwayele kakhulu kubantu abanesizinda esisenyakatho saseYurophu.
- Umuntu oyedwa kwabayisishiyagalombili kuya kwabangu-12 uyisithwali se-hemochromatosis, kodwa njengoba bobabili abazali kufanele babe yizinkampani, bese kuthi ngamunye kumele adlulisele isisindo se-hemochromatosis kumntanakho, ingozi yokuthuthukisa i-hemochromatosis iphansi kakhulu kwezingane eziningi.
- Uma ingane isengozini ye-hemochromatosis futhi unquma ukuchaza ukuhlolwa kofuzo, khona-ke ungase ucabange ukuhlolwa kwegazi njalo (eminyakeni emibili kuya kwemihlanu), kufaka phakathi i-serum iron, i-TIBC, i-transferrin saturation, ne-ferritin level, ukuqinisekisa ukuthi ayikho 'Ukuthuthukisa izimpawu zensimbi ngokweqile.
- Ezinye izinhlobo ze-hemochromatosis zibandakanya i-young hemochromatosis ne-neonatal hemochromatosis.
- I-biopsy yesibindi ukukala inani lensimbi esibindi kungase kudingeke kwenziwe uma ingane inakho noma isolwa ukuthi i-hemochromatosis.
I-hematologist kanye / noma i-gastroenterologist ingaba usizo uma ucabanga ukuthi ingane yakho isengozini ye-hemochromatosis.
Imithombo:
Heeney MM. I-homeostasis ye-iron kanye nokukhathazeka ngokweqile kwe-iron: I-Overview. Hematol Oncol Clin North Am 01-DEC-2004; 18 (6): 1379-403
I-Hoffman: i-Hematology: Izimiso eziyisisekelo nokuzijwayeza, 4th ed.
I-National Human Genome Research Institute. Ukufunda Nge-Heredchromatosis Hereditary. Kufinyelelwe ngoMeyi 2016.
UNelson et al, i-American Academy ye-Pediatrics Committee kwi-Bioethics: izindaba eziphathelene nokuziphatha ngokuhlolwa kofuzo ekwenzeni izingane. I-Pediatrics (2001) 107: pp 1451-1455.