Ukusilela kwe-hemoglobin
Ngokuqhelekileyo i-hemoglobin inezintambo ezine zeeprotheni (i-globins), ngasinye ngasinye esino-molemocule-ye-oxyme. Kukho ezimbini iintlobo zama-globins - i-alpha kunye ne-beta globins. Ukudibanisa ngamabini, benza i-molecule ye-hemoglobin. Imveliso yeentlobo ezahlukeneyo ze-globins iyalinganisela, ngoko ikhona malunga nexabiso elilinganayo kwigazi. Nge-thalassemia, ukuhlanganiswa kwe-alpha okanye i-betaglobins kuphazamiseka, okukhokelela ekuphazamiseni ukwakhiwa kwemolekyu ye-hemoglobin. Kungabikho kohlobo oluqhelekileyo lwe-hemoglobin egazini elikhokelela ekuphuhliseni i-anemia kunye nezinye iimpawu ze-thalassemia.
Kukho iintlobo ezimbini ezibalulekileyo ze-thalassemia:
- i-beta-thalassemia - idibene nokuphulwa kwe-globin production chain;
- i-alpha-thalassemia - ibonakaliswe ngokuphulwa kwe-alpha-chain chains ye-globin. Zombini izifo zinamanani amaninzi, ezahlukileyo. I-Alfa-thalassemia kuzo zonke iifom zayo inenkqubela enkulu.
Kukho iintlobo ezintathu ze-beta-thalassemia: i-thalassemia encinane, i-thalassemia ephakathi kunye ne-thalassemia enkulu. Iimpawu ze-thalassemia encinci zincinci, kodwa abathwali beengcipheko zengqondo eziphosakeleyo zithumela kubantwana babo kwifom enzima. Amatyala e-beta-thalassemia abhalisiwe kuwo wonke umhlaba, kodwa eqhelekileyo kwiMeditera kunye namazwe aseMbindi Mpuma. Phantse i-20% yabemi bale mimandla (abantu abangaphezu kwezigidi ezili-100) banomdla we-thalassemia. Kukho ukusabalalisa kwesi sifo emazweni aseMeditera echaza igama layo ("thalassemia" lihunyushwa ngokuthi "i-Mediterranean anemia").
Ukuhlolwa kwegazi
Izigulane nge-beta-thalassemia encinane zivakalelwa ziqhelekileyo kwaye zikhangeleki zigula. Ngokuqhelekileyo, ifunyanwa ngengozi kwiphepha legazi jikelele. I-anemia efanelekileyo iyabonwa kwizigulane. Umfanekiso omncinci wegazi ufana ne-aseemia ye-iron. Nangona kunjalo, uphando olongezelelweyo lwenza ukuba kube lula ukukhupha ukungabikho kobunzima bale nxalenye. Kuhlalutyo olwandisiweyo ukulingana okungaqhelekanga kwamacandelo egazi kubonakala.
Forecast
Umntwana onomncinci we-beta-thalassemia ukhula ngokuqhelekileyo kwaye akayidingi unyango, kodwa unokuthi ulungele ukukhulelwa kwegazi kwixesha elikude, umzekelo, ngexesha lokukhulelwa okanye ngezifo ezithathelwanayo. I-beta-thalassemia encinci idlala indima njengento ekhuselayo malunga ne-malaria. Oku kunokucacisa ukuphakama okuphezulu kwethalassemia kumazwe aseMbindi Mpuma. I-beta-thalassemia enkulu iyenzeka xa umntwana ezuze iifaji eziphosakeleyo ezijongene nokusetyenziswa kwe-beta-globin kubazali bobabini, kwaye umzimba wakhe awuvelisi i-beta-globin kwisixa esivamile. Ngelo xesha, ukuhlanganiswa kweetyunithi ze-alpha akutyhulwa; zenza i-incrycytes engenayo i-insultuble, ngenxa yolu hlobo lweeseli zegazi linciphisa ngobukhulu kwaye lube lubala embala. Ubomi be-erythrocyte ezinjalo buphantsi kwexesha eliqhelekileyo, kwaye ukuphuhliswa kwezinto ezintsha kuyancitshiswa kakhulu. Konke oku kuholele ekukhuleni kwegazi. Nangona kunjalo, lolu hlobo lwe-anemia, njengomthetho, alubonakalwanga kude kube neenyanga ezintandathu, ukususela ngeenyanga zokuqala ezibizwa ngokuba yi-fetal hemoglobin igalelo kwigazi, eliza kuthiwa lithatyathwe yi-hemoglobin eqhelekileyo.
Iimpawu
Umntwana ophethe i-thalassemia enkulu ibonakala engafanelekanga, akanakuthandabuza kwaye aphukile, angahle agxume emva kokuphuhliswa. Abantwana abanjalo banokuba banciphise ukutya, abazuzi ubunzima, baqala ukuhamba ngokukhawuleza. Umntwana ogulayo udala i-anemia ephezulu ehamba kunye neziphazamiso zesimilo:
- isakhiwo sobuso (oko kuthiwa yi-Mongoloid ubuso);
- Uphawu luguquka emathanjeni - oko kuthiwa "i-skull ye-skull" uphawu (i-periostosis ene-sindle) enxulumene nomnatha wethambo hyperplasia yi-radiological;
- ukutyumba kunye nokuphuka kwamathambo.
I-Thalassemia iyisifo esingenakuphilisa. Izigulane zijongene nezifo ezinxulumene nobomi bonke. Izindlela zamanje zonyango zinokulondoloza ubomi bomguli. Isiseko sokonyango kwe-beta-thalassemia enkulu i-blood transfusion rhoqo. Emva kokuxilongwa, isigulane sinikelwa igazi, ngokuqhelekileyo i-groove kwiiveki ezi-4-6. Injongo yolu hlobo unyango; iiseli zegazi (ukulungelelaniswa kwegazi). Ngoncedo lokumpontshelwa igazi, ulawulo lwe-anemia lunikezelwa, oluvumela umntwana ukuba aphuhlise ngokuqhelekileyo kwaye avimbele ukuguqulwa kwamathambo. Ingxaki ebalulekileyo enxulumene nokuxilongwa kwegazi ezininzi kukudla okuninzi ngokwetye, okunomthi onobuthi emzimbeni. Insimbi eyongeziweyo ingonakalisa isibindi, intliziyo kunye nezinye izitho.
Unyango loxwala
Ukuphelisa ukuxhatshazwa, i-deferoxamine ye-drug injected intravenously. Ngokuqhelekileyo umyalelo weeyure ezisibhozo ze-deferoxamine ama-5-6 maxesha ngeveki. Ukukhawulezisa ukususwa kwe-iron eyimfuneko, ukutyiwa ngomlomo nge-vitamin C kukwacetyiswa kwakhona. Le meko ibangela nzima isigulane kunye nabathandekayo bakhe, ngoko akumangalisi ukuba izigulane kaninzi azihambelani nemigqaliselo yonyango. Unyango olunjalo lwandisa kakhulu ixesha lokuphila kwezigulane ezine-beta-thalassemia enkulu, kodwa ayilinyanga. Ingxenye encinci yezigulane zisinda kwiminyaka eyi-20 ubudala, ukuxela kwabo kungenakulungeleka. Nangona unyango oluqhubekayo, abantwana abanolu hlobo lwe-thalassemia abafaneli bafikelele emva. Ukubonakaliswa rhoqo kwe-thalassemia kukunyusa kweseyile, kuhamba kunye nokuqokelela kweeseli ezibomvu zegazi kulo, ukushiya igazi, elikhupha i-anemia. Ukunyanga izigulane nge-thalassemia, ngamanye amaxesha zithatha ukutshatyalaliswa kokutshatyalaliswa kwetyeni (splenectomy). Nangona kunjalo, kwizigulane eziye zafumana u-splenectomy, kukho ukunyuka okuphezulu kwintsholongwane ye-pneumococcal. Kwiimeko ezinjalo, ukuconywa okanye i-anti-prophylactic antibiotics iyaphakanyiswa. Ukongeza kwi-beta-thalassemia encinci nangaphezulu, kukho i-beta-thalassemia ephakathi kunye ne-alpha-thalassemia. Ukuhlolwa kwabasetyhini abakhulelweyo abaneempawu ze-thalassemia encinci kubonisa ubukho beendlela ezinzima zesifo ebusweni. Kukho uhlobo lwesithathu lwe-beta-thalassemia, eyaziwa ngokuba yi-beta-thalassemia ephakathi. Esi sifo esiqinileyo siphakathi kweefom ezincinane kunye ezinkulu. Kwizigulane ezine-thalassemia ephakathi, izinga le-hemoglobin egazini liyancitshiswa, kodwa lwanele ukuvumela isigulane ukuba siphile ngobomi obuqhelekileyo. Izigulane ezinjalo azidingi ukumpontshelwa igazi, ngoko zisebunciphekweni obuphantsi kakhulu beengxaki ezinxulumene nentsimbi engaphezu komzimba
Forecast
Kukho iintlobo ezininzi ze-alpha-thalassemia. Ngelo xesha, akukho calulo olucacileyo kwiifom ezinkulu kunye ezincinci. Oku kubangelwa ubukho bamajeni amane ahlukeneyo ajongene nokuhlanganiswa kwee-globin zamaketanga ezenza i-hemoglobin.
Izifo ezinzima
Ukuqina kwesi sifo kuncike ekubeni zininzi zengqungquthela ezine ezikhoyo ezingenasici. Ukuba kuphela igalelo elilodwa lichaphazelekayo, kwaye ezinye ezintathu ziqhelekile, isiguli ngokuqhelekileyo asibonisi okungaqhelekanga kwigazi. Nangona kunjalo, ngokutshatyalaliswa kwezinto ezimbini okanye ezithathu zegesi zihamba phambili. Njenga-beta-thalassemia, i-alpha thalassemia ixhaphake kwiindawo ezinomdla we-malaria. Esi sifo siqhelekile kwi-Asia-mpuma ye-Asia, kodwa ayinqabile eMiddle East nakwiMeditera.
Diagnostics
Ukuxilongwa kwe-alpha-thalassemia kusekelwe kwiziphumo zokuhlolwa kwegazi. Esi sifo sihamba ne-anemia ephezulu. Ngokuchasene ne-beta-thalassemia, nge-alpha-thalassemia akukho nyuke kwi-hemoglobin HA2. I-beta-thalassemia enkulu ingafunyanwa ngaphambi kokuzalwa. Ukuba, ngenxa yesiganeko okanye iziphumo zoviwo olucwangcisiweyo, umfazi ungumphathi we-gene ye-thalassemia encinci, ubaba ozayo uya kuphinda ahlolwe i-thalassemia. Xa i-gene ye-thalassemia encinci ifunyanwe kubazali bobabini, ukuxilongwa ngokuchanekileyo kunokwenziwa kwisigidi sokuqala sokukhulelwa ngesiseko segazi lomntwana. Xa umntwana ufumaneka ukuba eneempawu ze-beta-thalassemia enkulu, ukukhupha isisu kubonisiwe.