Ua ʻike anei ʻoe i ka Beta Thalassemia? E kamaʻilio maʻalahi kākou e pili ana!

Ua lohe paha ʻoe i ka maʻi i kapa ʻia ʻo 'thalassemia'? Malia paha he maʻi kēia i loko o kou ʻohana a i ʻole he hoaaloha. He maʻi kēia e pili ana i ko kākou koko. I kēia lā e kamaʻilio mākou e pili ana i kekahi o nā ʻano nui o ka thalassemia , ʻo Beta Thalassemia . ʻOiai paha he paʻakikī iki kēia inoa, e kamaʻilio mākou e pili ana iā ia me ka maʻalahi loa, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Beta Thalassemia?

I ka ʻōlelo maʻalahi, ʻo ka beta thalassemia kahi maʻi koko kahi hiki ʻole i ko mākou kino ke hana pono i ka hemoglobin . I kēia manawa ke nīnau nei paha ʻoe, "He aha ka hemoglobin?" ʻO ka hemoglobin kahi protein i loaʻa i loko o kā mākou mau ʻulaʻula koko nona ka nui o ka hao. ʻO ka ʻoiaʻiʻo, ʻo ia ka mea nui i loko o nā ʻulaʻula koko.

E noʻonoʻo i kēia ʻano: ua like ka hemoglobin me kahi kaʻa e kōkua ai i kā mākou mau hunaola koko ʻulaʻula e lawe i ka oxygen. Lawe kēia mau hunaola koko ʻulaʻula i ka oxygen i nā hunaola a me nā ʻiʻo ʻē aʻe ma ke kino holoʻokoʻa. No laila, hoʻohana kā mākou mau hunaola i kēia oxygen e hana i ka ikehu.

ʻO ka Beta thalassemia kekahi o nā ʻano nui ʻelua o ka thalassemia. Ma kēia, aia kekahi mau loli (nā hoʻololi ʻana o ka gene), ʻo ia hoʻi, kahi hewa liʻiliʻi, i loko o nā genes i loko o kā mākou protein hemoglobin. Ma muli o kēia hewa gene, ʻaʻole hiki i ko mākou kino ke hana pono i ka protein beta-globin i loko o ka hemoglobin.

Pehea ka hopena o ka beta thalassemia i koʻu kino?

Ke emi ka hana ʻana o ka beta-globin o ko kākou kino, ua hōʻino ʻia ko kākou mau hunaola koko ʻulaʻula. A laila, ua wehe koke ʻia kēia mau hunaola koko ʻulaʻula i hōʻino ʻia mai ke koko. I kēia manawa, e noʻonoʻo, he aha ka mea e hana ʻia inā ʻaʻole hiki ke hana ʻia nā hunaola koko ʻulaʻula hou e pani i nā mea i nalowale? ʻO ia ka manawa e ulu ai ka anemia , a i ʻole ka nele o ke koko.

ʻIke ʻia nā hōʻailona o ka anemia ke ʻole lawa nā hunaola koko ʻulaʻula e lawe i ka oxygen i nā ʻiʻo o ko mākou kino. A laila, ʻaʻole lawa ka oxygen i kēlā mau ʻiʻo. Hiki i nā hōʻailona o ka anemia e hele mai me ka beta thalassemia ke ʻano mai ka ʻoluʻolu a i ka koʻikoʻi , ma muli o ka haʻahaʻa o kāu helu hunaola koko ʻulaʻula.

ʻO wai ka mea i ʻoi aku ka pilikia o ka hoʻomohala ʻana i ka beta thalassemia?

He maʻi hoʻoilina ka Beta thalassemia. ʻO ke ʻano kēia, hoʻoilina nā keiki i ke kīnā gene e pili ana i kēia maʻi mai ko lākou mau mākua mai. Noho ka hapa nui o ka poʻe me ka beta thalassemia ma nā ʻāina e like me ʻApelika, ka ʻāina Mediterranean, ka Middle East, India a me Asia Hikina Hema. Eia nō naʻe, ma muli o ka neʻe ʻana a puni ka honua, ke hōʻike ʻia nei nā maʻi beta thalassemia ma ʻEulopa ʻĀkau a me ʻAmelika ʻĀkau. ʻIke ʻia kēia maʻi ma ko mākou ʻāina, ʻo Sri Lanka.

Pehea ka maʻamau o ka beta thalassemia?

Ua ʻike anei ʻoe ʻo ka thalassemia ke kumu nui o ka anemia hoʻoilina? Ua ʻike ʻia nā tausani o nā maʻi beta thalassemia hou i kēlā me kēia makahiki. Eia nō naʻe, ʻo ka nūhou maikaʻi , me ka hoʻomaikaʻi ʻana o nā hana pale e like me nā nānā ʻana e ʻike i nā poʻe me ka hemahema gene thalassemia, ua emi iho ka nui o nā hihia i kekahi ʻano .

He aha ke kumu o ka beta thalassemia?

ʻO ke kumu nui o ka beta thalassemia he kīnā genetic (mutation) e kaupalena ana i ka hana ʻana o ka beta-globin i loko o ko mākou kino. E like me kā mākou i ʻōlelo ai, ua hana ʻia ka hemoglobin me ʻehā mau kaulahao protein: ʻelua mau kaulahao alpha-globin a me ʻelua mau kaulahao beta-globin . ʻO nā hemahema i loko o ke kaulahao alpha-globin ke kumu o ka alpha thalassemia, a ʻo nā hemahema i loko o ke kaulahao beta-globin ke kumu o ka beta thalassemia. Inā nele kekahi o kēia mau kaulahao globin, ua hōʻino ʻia a luku ʻia nā hunaola koko ʻulaʻula.

Hoʻoilina ʻoe i ke kīnā gene no ka beta thalassemia ma ke ʻano autosomal recessive . Hana ʻia kēia ke lawe nā mākua olaola ʻelua i hoʻokahi kope o ka gene hemahema a me hoʻokahi kope o ka gene maʻamau. I ke ʻano koʻikoʻi loa o ka beta thalassemia, hoʻoilina ʻoe i hoʻokahi kope o ka gene hemahema mai nā mākua ʻelua.

Eia nō naʻe, he mea kākaʻikahi loa, hiki ke hana ʻia ka beta thalassemia ma ka hoʻoilina ʻana i hoʻokahi wale nō gene beta-globin hemahema. Ua kapa ʻia kēia he ʻano autosomal dominant .

He aha nā ʻano o ka beta thalassemia?

ʻO ke koʻikoʻi o kou kūlana e pili ana i ka helu o nā genes kīnā āu e hoʻoilina ai a me kahi o ke kīnā. ʻO kekahi mau kīnā gene ʻaʻole ia e hana i ka beta-globin (i kapa ʻia ʻo beta-zero thalassemia ). ʻO nā hemahema ʻē aʻe ke kumu o ka hana ʻana i ka beta-globin liʻiliʻi loa (i kapa ʻia ʻo beta-plus thalassemia ).

Aia kekahi mau ʻano nui o ka beta thalassemia:

• ʻO ka Beta thalassemia nui (Cooley's anemia): ʻO kēia ke ʻano koʻikoʻi loa o ka beta thalassemia. Ma kēia, ua nalowale a hemahema paha nā genes beta-globin ʻelua. Ua kapa ʻia ʻo Beta thalassemia nui ʻo "transfusion-dependent thalassemia" no ka mea, pono ka poʻe me kēia maʻi i nā hoʻoili koko no ke ola holoʻokoʻa.
• Beta thalassemia intermedia: Hiki i kēia ke hana i ka anemia ʻoluʻolu a me ka maʻamau. Ma kēia kūlana, ua nalowale a hemahema paha nā genes beta-globin ʻelua. Eia nō naʻe, ʻaʻole pono ka poʻe me ka beta thalassemia intermedia e hāʻawi koko no ke koena o ko lākou ola.
• ʻO Beta thalassemia minor (ʻike ʻia hoʻi ʻo beta thalassemia trait): He ʻano kēia e hoʻoulu pinepine ai i ka anemia ʻoluʻolu. Hoʻokahi wale nō gene beta-globin i nalowale a hemahema paha. ʻAʻole paha i loaʻa i kekahi poʻe me ka beta thalassemia minor kekahi mau hōʻailona.

He aha nā hōʻailona o ka beta thalassemia?

E hilinaʻi ana kāu mau hōʻailona i ke koʻikoʻi o kāu beta thalassemia. No ka laʻana, ʻo kekahi me ka beta thalassemia minor he asymptomatic paha a i ʻole he anemia palupalu loa paha. ʻO ka poʻe me ka beta thalassemia intermedia a ʻoi aku hoʻi ka beta thalassemia major, loaʻa paha iā lākou nā hōʻailona waena a ʻoi aku paha ka koʻikoʻi.

Nā hōʻailona liʻiliʻi

ʻO ka Beta thalassemia minor (beta thalassemia trait) e pili pinepine ʻia me nā hōʻailona anemia palupalu e like me:

• Ka luhi pinepine.
• Ka poniuniu a i ʻole ka nāwaliwali .
• ʻO ke poʻo pinepine.
• ʻIli keʻokeʻo .

Nā hōʻailona waena a koʻikoʻi

ʻO nā hōʻailona koʻikoʻi loa e pili ana me ka beta thalassemia major. ʻO kekahi o kēia mau hōʻailona, ​​​​ma muli o ke koʻikoʻi o kou kūlana, hiki ke loaʻa i nā poʻe me ka beta thalassemia intermedia. Ma waho aʻe o nā hōʻailona ʻoluʻolu, hiki iā ʻoe ke ʻike:

• Ka paʻakikī o ka hanu ʻana i ka wā hoʻoikaika kino.
• Hoʻonui ʻia ka helu o ka puʻuwai ( palpitations ).
• Melemele o ka ʻili a i ʻole nā ​​keʻokeʻo o nā maka ( jaundice ).
• Ka mimi ʻeleʻele a ʻeleʻele paha ke kala tī.
• Ka ulu lohi a i ʻole ka hoʻomohala lohi.
• Pehu ʻōpū .
• Ka nāwaliwali a i ʻole ke ʻano ʻē o nā iwi o nā lima, nā wāwae, a me ka maka.

Hiki i nā pēpē ʻōpio me ka beta thalassemia waena a koʻikoʻi paha ke hoʻomaha loa , a hiki nō hoʻi iā lākou ke loaʻa pinepine i nā maʻi.

Pehea e ʻike ʻia ai ka beta thalassemia?

Hoʻomaopopo pinepine ʻia ka Beta thalassemia i ka wā kamaliʻi . ʻO ke ʻano koʻikoʻi loa, ʻo ka beta thalassemia major, ua ʻike ʻia ma mua o ka piha ʻana o 2 makahiki, ʻo ia hoʻi i ka wā kamaliʻi. E hoʻomaopopo kāu kauka i ka beta thalassemia ma muli o kāu mau hōʻailona a me nā hopena o nā hoʻāʻo koko.

He aha nā hoʻokolohua diagnostics?

E ʻike kāu kauka i ka beta thalassemia ma ka lawe ʻana i kahi hāpana koko maʻalahi a me ka nānā ʻana iā ia. Hiki i nā hoʻokolohua ke komo pū me:

• Helu Koko Piha (CBC): Hāʻawi kahi hoʻāʻo CBC i ka ʻike e pili ana i kāu mau hunaola koko, me kāu mau hunaola koko ʻulaʻula. Hiki iā ia ke hōʻike inā he haʻahaʻa kou helu o nā hunaola koko ʻulaʻula, inā ʻoi aku ka liʻiliʻi ma mua o ka maʻamau, he ʻano ʻē, a he keʻokeʻo paha (ʻulaʻula māmā). Hiki i kēia mau hōʻailona ke lilo i mau hōʻailona o ka thalassemia.
• Helu Reticulocyte: Ua kapa ʻia nā ʻulaʻula koko ʻole i oʻo ʻia he reticulocytes. ʻO ka helu reticulocyte haʻahaʻa ʻo ia hoʻi ʻaʻole lawa ka hana ʻana o kou kino i nā ʻulaʻula koko. Eia nō naʻe, i ka thalassemia nui, piʻi pinepine ka helu reticulocyte. ʻO kēia no ka mea ke hoʻāʻo nei kou kino e hana i nā ʻulaʻula koko hou aʻe e uku no ka luku ʻia ʻana o nā ʻulaʻula koko me ka hemoglobin kūpono ʻole.
• Ka hoʻāʻo ʻana i ka genetic molecular: ʻAe kēia hoʻāʻo i kāu kauka e nānā pono i kou hemoglobin a ʻike i ke kīnā genetic e pili ana me ka beta thalassemia.
• Hemoglobin electrophoresis: Ke ana kēia hoʻāʻo i nā ʻano like ʻole o nā protein hemoglobin i loko o kou koko. I ka beta thalassemia, ua hoʻonui ʻia kekahi mau ʻano o nā protein hemoglobin, a ua emi iho kekahi.

Inā he kānalua ua hoʻoilina paha kāu pēpē i hānau ʻole ʻia i ka gene kīnā, hiki i kāu kauka ke hana i kahi hoʻokolohua i kapa ʻia ʻo Chorionic Villus Sampling (CVS) a i ʻole Amniocentesis i ka wā hāpai. Hoʻāʻo ʻo CVS i kahi ʻāpana o ka placenta e nānā i nā hōʻailona o ke kīnā genetic. ʻO ka placenta ke kino e kōkua iā ʻoe a me kāu pēpē e hoʻololi i nā meaʻai i ka wā hāpai. Hoʻāʻo ʻo Amniocentesis i ke kahe a puni kāu pēpē e nānā i nā hōʻailona o ka beta thalassemia.

Pehea e mālama ʻia ai ka beta thalassemia?

Pono pinepine ʻoe e hana pū me kahi hui mālama e komo pū ana me nā loea like ʻole. He mea nui loa ia e hana pū me kahi loea e mālama ana i nā maʻi pili koko, he hematologist .

Hiki i nā koho lapaʻau ke komo pū me:

• Nā hoʻoili koko: Pono paha ke kanaka me ka beta thalassemia major e hāʻawi pinepine i ke koko (malia paha i kēlā me kēia ʻelua pule). I loko o kēia kaʻina hana, loaʻa iā ʻoe ke koko mai kahi mea hāʻawi. Kōkua nā hunaola koko ʻulaʻula mai kēia hāʻawi koko i ka lawe ʻana i ka oxygen i nā ʻiʻo ma ke kino holoʻokoʻa.
• Lapaʻau hao chelation: He ʻāpana koʻikoʻi ka hao o ka protein hemoglobin e kōkua ana i ka lawe ʻana i ka oxygen. Eia nō naʻe, hiki i ka nui o ka hao ke lilo i mea ʻino. Hiki i ka lāʻau hao chelation ke pale aku i ka hao nui.
• Nā mea hoʻohui waikawa Folic: Hiki i ka waikawa Folic ke kōkua i kou kino e hana i nā hunaola koko ʻulaʻula. Inā loaʻa iā ʻoe ka beta thalassemia minor, hiki i kāu kauka ke ʻōlelo aku i kēia mea hoʻohui. Inā koʻikoʻi kou kūlana, pono paha ʻoe e lawe i ka waikawa folic me ka hāʻawi pinepine ʻana i ke koko.
• Luspatercept: Inā loaʻa iā ʻoe ka thalassemia major, hiki ke hāʻawi ʻia iā ʻoe kahi inikini i kapa ʻia ʻo luspatercept i kēlā me kēia ʻekolu pule e kōkua i kou kino e hana i nā hunaola koko ʻulaʻula hou aʻe. Kōkua ʻo Luspatercept i ka hōʻemi ʻana i ka anemia i nā poʻe maʻi beta thalassemia e hāʻawi koko ana.
• Ka hoʻoili ʻana o ka iwi ʻiʻo a me nā pūnaewele kumu:Hiki iā ʻoe ke loaʻa nā hunaola kumu iwi mai kahi mea hāʻawi. ʻO kēia mau hunaola kumu ka mea e lilo i mau hunaola koko ʻulaʻula ma hope. Hiki ke ho'ōla ʻia ka Beta thalassemia ma ka hoʻololi ʻana i kāu mau hunaola kumu iwi me nā hunaola kumu mai kahi mea hāʻawi olakino. Eia nō naʻe, he paʻakikī ka loaʻa ʻana o kahi mea hāʻawi kūpono. Eia kekahi, ua manaʻo ʻia kēia ʻano hoʻoili ʻana he hana pilikia kiʻekiʻe.

He aha nā pilikia a i ʻole nā ​​hopena ʻaoʻao o ka lāʻau lapaʻau?

ʻO ka pilikia maʻamau o ka hāʻawi koko ʻana, ʻo ia ka nui o ka hao . Ke hāʻawi ʻoe i ke koko, loaʻa i kou kino nā hunaola koko ʻulaʻula a me ka hao. Ke hāʻawi pinepine ʻoe i ke koko, hiki i kēia hao ke hōʻiliʻili a hōʻino i nā ʻōpū koʻikoʻi e like me ke akepaʻa, ka puʻuwai, a me ka pancreas. Inā he mea hāʻawi koko pinepine ʻoe, e kamaʻilio me kāu kauka e pili ana i ka pinepine o kāu lawe ʻana i ka lāʻau lapaʻau chelation hao e wehe i ka hao keu mai kou kino.

Pehea e hiki ai iā ʻoe ke hōʻemi i ka pilikia o ka hoʻomohala ʻana i ka beta thalassemia?

ʻAʻole hiki iā ʻoe ke hōʻemi i kou pilikia o ka hoʻoilina ʻana i kahi kīnā gene e pili ana me ka beta thalassemia. Eia nō naʻe, hiki iā ʻoe ke pale i kāu keiki mai ka hoʻoilina ʻana. Inā ʻoe a i ʻole kāu hoa pili i ka pilikia o ka lilo ʻana i mea lawe o kēia kīnā gene a ke manaʻolana nei e loaʻa kahi keiki, e kamaʻilio me kāu kauka e pili ana i ka nānā ʻia ʻana no ka beta thalassemia.

Hiki ke ho'ōla ʻia ka beta thalassemia?

ʻO ka lāʻau lapaʻau wale nō no ka beta thalassemia i kēia manawa, ʻo ia ka hoʻoili ʻana i ka iwi a me nā cell kumu mai kahi mea hāʻawi kūpono. Eia nō naʻe, he mea paʻakikī ka loaʻa ʻana o kahi mea hāʻawi kūpono. ʻOiai nā lālā o ka ʻohana, ʻaʻole paha lākou e manaʻo ʻia he mau mea hāʻawi kūpono.

Ke aʻo nei nā kānaka noiʻi i nā lāʻau lapaʻau ʻē aʻe no ka beta thalassemia, e like me ke pani ʻana i nā genes kīnā me nā mea olakino ( gene therapy ). Aia nō kēia hana i kona mau pae mua.

He aha ke kūlana o ke ola o kekahi kanaka me ka beta thalassemia?

He maʻi hiki ke mālama ʻia ka Beta thalassemia. Hiki i ka poʻe me nā ʻano beta thalassemia ʻoluʻolu a me ka waena, e like me ka minor a me ka intermedia, ke manaʻo i kahi ola maʻamau inā lākou e hahai i nā ʻōlelo aʻoaʻo a kā lākou kauka. Eia nō naʻe, hiki i ka beta thalassemia nui ke hoʻopōkole i ko lākou ola. ʻO ke kumu maʻamau o ka make ma kēia ʻano, ʻo ia ka hāʻule ʻana o ka puʻuwai i hoʻokumu ʻia e ka hao nui.

E kamaʻilio me kāu kauka e pili ana i kāu wānana ma muli o ke koʻikoʻi o kou kūlana.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

E nīnau i kāu kauka i ka pinepine o kāu e hana ai i nā hoʻokolohua koko a me nā lāʻau lapaʻau, a me nā loli o ke ʻano o ka nohona āu e hana ai e mālama i kou kūlana.

ʻO kekahi mau nīnau hiki iā ʻoe ke nīnau:

• He aha ke ʻano o ka beta thalassemia iaʻu?
• He aha ke ʻano o ka lāʻau lapaʻau e pono ai iaʻu e mālama i koʻu kūlana?
• Pehea e hōʻemi ʻia ai ka pilikia o nā pilikia mai ka mālama ʻana?
• ʻEhia pinepine e pono ai iaʻu e hana i nā hoʻāʻo koko e nānā i koʻu kūlana?
• He aha ke ʻano o nā hoʻāʻo koko e loaʻa iaʻu?
• He aha nā hoʻololi o ke ʻano o ka nohona (e like me ka ʻai, ka hoʻoikaika kino) e pono ai iaʻu e hana e mālama ai i koʻu kūlana?
• He moho anei au no ka hoʻoili ʻana i nā pūnaewele kumu?
• He aha nā manawa kūpono e loaʻa ai i kaʻu mau keiki ka beta thalassemia?

ʻO ke ʻano o kou loaʻa ʻana i ka beta thalassemia e pili ana i ke koʻikoʻi o kou kūlana. Me ka nānā ʻole i ke ʻano o ka beta thalassemia, he mea nui e hana pū me nā loea i ʻike i ka ʻike ʻana a me ka mālama ʻana i ka thalassemia.

ʻO ka loaʻa ʻana o ka lāʻau kūpono e hiki ke pale i ka anemia a hōʻemi i ka pilikia o nā pilikia e like me ka hao nui.

ʻO ka hana ʻana me kahi hui mālama ola e nānā pono ana i kou kūlana a hāʻawi i kahi hoʻolālā mālama maʻamau e hiki ke kōkua i ka hoʻomaikaʻi ʻana i kāu prognosis.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

ʻAʻole ka Beta Thalassemia he mea e makaʻu ai, akā he kūlana ia e pono ai ke mālama pono ʻia . Inā ʻoe a i ʻole kekahi āu i ʻike ai i loaʻa i kēia kūlana, he mea nui loa ia e hahai i nā ʻōlelo aʻoaʻo lapaʻau kūpono, e kiʻi i nā hoʻokolohua a me ka mālama ʻana e pono ai . E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi, a aia nā kauka a me nā limahana olakino e hiki ke kōkua iā ʻoe. No laila, mai makaʻu e kamaʻilio me lākou inā he mau nīnau kāu. Lana ko mākou manaʻo e kōkua kēia ʻike iā ʻoe e ola i kahi ola olakino!

ʻO ka Beta thalassemia, thalassemia, anemia, hemoglobin, nā hoʻololi genetic, ka hāʻawi koko, ka hao nui