I-alpha thalassemia yilapho i- anemia ezuzwa njengefa lapho umzimba ungakwazi ukukhiqiza inani elivamile le-hemoglobin. I-Hemoglobin A (i-hemoglobin enkulu kubantu abadala) iqukethe amaketanga amabili e-globin e-alpha kanye namaketanga amabili we-beta globin. Ku-alpha thalassemia, kukhona inani elinciphile lama-alpha globe.
Yiziphi izinhlobo ze-Alpha Thalassemia?
- I-Alpha thalassemia minima (othwala othintekayo) kwenzeka lapho i-alpha yolwazi ye-globin ilahlekile.
- I-alpha thalassemia encane (noma isici) iyenzeka uma ama-gene amabili we-globin amagciwane alahlekile. Kunezinhlobo ezimbili. Uma ama-gene amabili we-globin wezakhi zofuzo elahlekile ase-chromosome efanayo 16 abizwa ngokuthi i- cis , kepha uma i-alpha yolwazi yegciwane ye-alpha ingekho kukhophi ngayinye ye-chromosome 16 lokhu kubizwa ngokuthi i- trans .
- Isifo se-Hemoglobin H (noma i-alpha thalassemia intermedia) senzeke uma ama-gridi alfabhethi e-alpha angasebenzi. Kulesi simo, kunamanani amaningi kakhulu we-beta globins. Lapho lezi zihlanganisa, kuthiwa i-Hemoglobin H.
- Ama-Hydrops fetalis ayenzeka uma zonke izakhi zofuzo ze-globin ezine zilahlekile. Ngokomlando, lokhu akuhambisani nokuphila. Uma ubungozi bewaziwa kusengaphambili, ukumpontshelwa kwe-intrauterine (ukumpontshelwa emfubeni ngesikhathi esesesibelethweni) kungavumela ukulethwa okuphumelelayo. Lezi zidinga zidinga ukwelashwa okungapheli emva kokubeletha futhi kaningi ukuguqulwa kwamathambo.
- I-Hemoglobin H Constant Spring iyinhlobonhlobo ye-alpha thalassemia lapho ama-gene amabili e-globin amagciwane alahlekile kanye neyodwa ye-alpha globin gene ishintshwe.
Ubani Ongengozini ye-Alpha Thalassemia?
I-alpha thalassemia ivame ukuhlotshaniswa ne-Asia, i-Afrika, kanye nendawo yaseMedithera. E-US, cishe amaphesenti angu-30 ase-Afrika-aseMelika ane-alpha thalassemia minima noma encane.
I-Alpha thalassemia yisimo esizuzwe njengefa futhi idinga ukuthi bobabili abazali babe yizinkampani.
Umuntu ongenalo i-alpha thalassemia kufanele abe nama-gene globin amane amane. Ingozi yokuba nengane nge-alpha thalassemia isifo sincike esimweni sabazali. Ifomu lokudlulisa i- alpha thalassemia encane livame kakhulu kubantu base-Afrika. I- cis ifaka kakhulu kubantu abavela e-Asia noma esifundeni saseMedithera.
Uma bobabili abazali bephethe i-trans alpha thalassemia encane (a- / a-), zonke izingane zabo zizoba ne- trans alpha thalassemia encane. Uma umzali oyedwa ene-alpha thalassemia encane (aa / -) kanti omunye umzali une- trans alpha thalassemia encane (a- / a-), banoku-1 kwababili ithuba lokuba nengane ene-Hemoglobin H. Ngokufanayo, Uma umzali oyedwa ene-alpha thalassemia encane (aa / -) kanti omunye umzali unamaminithi we-thalassemia (aa / a-), ane-1 ku-4 amathuba okuba nengane ene-Hemoglobin H. Ama-hydrops fetalis ayenzeka lapho bobabili abazali be-alpha thalassemia encane encane.
I-Alpha Thalassemia Ithola Kanjani?
I-Alpha thalassemia minima ayibangeli izinguquko ze-laboratory ku-CBC. Yingakho kuthiwa yi-carrier yenethiwekhi. Lokhu kuvame ukusola ngemuva kokuzalwa kwengane ene-Hemoglobin H. Lokhu kungenziwa kuphela ngokuhlolwa kofuzo.
Ngezinye izikhathi i-alpha thalassemia encane ibonakala kusikrini esanda kuzalwa , kodwa hhayi kuzo zonke izimo.
Ukuhlolwa kulungile kumaqembu kaHemoglobin Bart noma okusheshayo. Abantu abaningi abane-alpha thalassemia encane enginalwazi. Lokhu kuvame ukufika ekukhanyeni ngesikhathi sokubala okuphelele kwegazi (CBC). I-CBC izokwethula i-anemia emnene kuya ekulinganiseni enezinqamuzana zegazi elibomvu kakhulu. Lokhu kungahle kudidaniswe nokuntuleka kwe-anemia yensimbi . Ngokuvamile, uma ukungenwa kwe-anemia kwe-iron kukhishwa ngaphandle futhi i-beta thalassemia imfanelo ingekho, isiguli sinomphumela we-alpha thalassemia. Uma kunesidingo, lokhu kungaqinisekiswa ngokuhlolwa kofuzo.
I-Hemoglobin H ingabonakaliswa esikrinini esanda kuzalwa. Lezi zingane zibhekiswe ku-hematologist ukuze zihlolwe ngokucophelela.
Ezinye iziguli zitholakala kamuva ekuphileni ngesikhathi sokusebenza kwegazi.
Ama-hydrops fetalis akuyona ukuxilongwa okuqondile, kodwa kunalokho okuphawulekayo kwi-neonatal ultrasound. Ukulahlekelwa kwezine zama-globin zegenesini kutholakala ngesikhathi sokusebenza ngenxa ye-hydrops.
Iyini Imithi Yelapha ye-Alpha Thalassemia?
Akukho ukwelashwa okudingekayo ku-alpha thalassemia minima noma encane. Abantu abane-alpha thalassemia encane bayoba ne-anemia engapheli.
Ukuthungathwa: Iziguli ezine-Hemoglobin H ngokuvamile zine-anemia elinganiselayo ebekezelelwe kahle. I-Transfuions iyadingeka ngezikhathi ngezikhathi ngesikhathi izifo ezinomkhuhlane njengoba inani legazi elibomvu lichithwa. Ukuthungathwa kungadingeka njalo njalo lapho umuntu ekhulile. Iziguli ezine-Hemoglobin H Constant Spring zingaba negazi elikhulu futhi zidinga ukumpontshelwa njalo ngesikhathi sokuphila kwabo.
Ukwelashwa kwe-Iron Chelation: Iziguli ezine-Hemoglobin H zingase zenze insimbi ibe yindlala ngisho nangaphandle kokumpontshelwa igazi okwedlula ukwandisa uketshezi kwensimbi emathunjini amancane. Bangaphathwa ngemithi ebizwa ngokuthi i-chelators ukusiza ukukhipha umzimba wensimbi eyengeziwe.