ʻO Hemophilia kahi maʻi hemorrhagic genetical e pale ai i ke koko mai ka hoʻopili ʻana, e hoʻoulu ana i ke kahe lōʻihi ke ʻeha a i kekahi manawa me ka ʻole o ka ʻeha. Hoʻokumu ʻia ia e kahi mutation genetical e kumu i ka hemahema a i ʻole ka loaʻa ʻole o nā proteins kāpili e pale ai i kahi ʻōpū mai ka hana ʻana i lawa ka ikaika e hoʻokū i ke kahe.

Ua manaʻo ʻia ʻo Hemophilia kahi maʻi o nā keikikāne a pili i ka 1 i ka 5000 hānau o nā keikikāne. Eia nō naʻe, hiki i nā kaikamahine ke hāpai i ka hoʻololi kūlohelohe a hoʻomohala i kahi ʻano liʻiliʻi o ka maʻi. I ka heluna heluna kānaka, he 1 i ka 12 mau kānaka i loaʻa ka hemophilia. (000) ʻElua mau ʻano nui o ka maʻi: hemophilia A a me B. ʻOi aku ka nui o ka hemophilia A ma mua o ka hemophilia B (1/1 kāne kūʻē i 6/000). (1).

He maʻi nāwaliwali loa ʻo Hemophilia a me nā maʻi make he mau makahiki i hala aku nei mai ka wā kamaliʻi a me ka ʻōpio. I kēia lā, hiki i nā lapaʻau kūpono akā kaohi ʻana ke hiki ke kaohi i ke kahe ʻana o ke koko a kaohi ʻana i ka hōʻeha kino a me nā kīnā ʻole o ke kanaka me ka hemophilia.

ke keiki. Loaʻa ke kahe lōʻihi ma hope o ka hōʻeha a i ʻole kahi trauma liʻiliʻi. Hiki iā lākou ke kūlohelohe (no laila ke komo i ka loaʻa ʻole o ka trauma) i nā ʻano koʻikoʻi o ka maʻi. Hiki i loko o ka naʻau a ma waho paha. E hoʻomaopopo i ka hoʻokahe ʻana i ke kanaka me ka hemophilia ʻaʻole ʻoi aku ka ikaika, akā ʻoi aku ka lōʻihi o kona lōʻihi. ʻO ke kahe ʻana i nāʻiʻo (bruises) a me nā hono (hemarthrosis), ʻo ka hapanui o nā kuʻekuʻe wāwae, nā kuli a me nā pūhaka, hiki i ka manawa ke kumu i ka ʻoʻoleʻa a me ka hoʻopau ʻana i nā deformities, kahi e hiki ai i ka palemaka.

ʻOi aku ka maʻi o ka maʻi ke haʻahaʻa ka nui o nā kumu coagulation i ke koko (1):

• Kahi ʻano koʻikoʻi: haemorrhages pinepine a pinepine (50% o nā hihia);
• ʻAno kaulike: haemorrhages lōʻihi ma hope o ka hōʻeha liʻiliʻi a me nā haemorrhages spontan (10 a 20% o nā hihia);
• ʻAno liʻiliʻi: haemorrhages lōʻihi lōʻihi akā ʻaʻole ka loaʻa o nā haemorrhages kūlohelohe (30 a 40% o nā hihia).

Aia i loko o ke koko nā protein, i kapa ʻia he mau kumu pili, i ʻae ai i ke kōpē ʻana o ke koko a no laila e hoʻōki i ke kahe ʻana. Pale ka hoʻololi genetic i ka hana ʻana o kēia mau protein. Inā like like nā ʻōuli e pili pū ana me ka hemophilia A a me B, he ʻano ʻokoʻa ʻokoʻa ko kēia ʻano ʻelua: he hemophilia A ke kumu o ka hoʻololi ʻana i ka gen F8 (Xq28) e hoʻopili ana i ka helu coagulation VIII a me l hemophilia B e nā hoʻololi. i ka gen F9 (Xq27) e hoʻopili ana i ka helu coagulation IX.

Hoʻokumu ʻia ʻo Hemophilia e nā gen i kau ʻia ma ka X chromosome. He maʻi maʻi ia i ʻike ʻia ma ka inoa ʻo "hoʻoilina hoʻoilina pili X-pili". Hōʻike kēia i kahi kanaka maʻi e hele i ka ʻāpana i hoʻololi ʻia i kāna mau kaikamahine wale nō, hiki iā lākou ke hoʻoili, me kahi 50% pilikia, i kā lākou kaikamahine a me nā keiki kāne. ʻO ka hopena, ʻaneʻane pili wale ka maʻi i nā kāne, akā ʻo nā wahine he hāpai. Ma kahi o 70% o hemophilia i loaʻa kahi moʻolelo ʻohana. (1) (3)

Hiki i nā lāʻau lapaʻau ke pale a pale i ke koko. Hoʻokomo ʻia lākou me ka lawelawe intravenously i kahi mea antihemophilic: factor VIII no ka hemophiliacs A a me ka helu IX no ka hemophiliacs B. Hana ʻia kēia mau lāʻau antihemophilic mai nā huahana i loaʻa mai ke koko (no ka plasma kumu), a i hana ʻia e ka ʻenekinia. genetics (recombinants). Hāʻawi ʻia lākou e nā injections maʻamau a me ka ʻōnaehana no ka pale ʻana i ke koko, a i ʻole ma hope o kahi hanana koko. Hiki i ka Physiotherapy i ka poʻe me ka hemophilia ke mālama i ka maʻalahi o nā ʻiʻo a me ka neʻe ʻana o nā hono i loaʻa i ke koko mau.