I-Thalassemia iqoqo lezifo zegazi zofuzo ezithinta ukukhiqizwa kwe-hemoglobin (iphrotheni enesibopho sokuthutha umoya-mpilo). Ziyahlukahluka ngobukhulu: ezinye azibangeli izimpawu kuyilapho ezinye zisongela ukuphila. Ukufakelwa komnkantsha kubhekwa ezimweni ezimbi kakhulu.

Incazelo ye-thalassemia

I-Thalassemia ibonakala ngokukhubazeka ekukhiqizeni i-hemoglobin. Njengesikhumbuzo, i-hemoglobin iyiphrotheni enkulu ekhona kumangqamuzana abomvu egazi (amangqamuzana egazi abomvu) indima yawo iwukuqinisekisa ukuthuthwa kwe-dixoygene isuka ohlelweni lokuphefumula iye kuwo wonke umzimba.

Kuthiwa ithalassemia yisifo segazi. Umsebenzi wokuthutha wamangqamuzana abomvu egazi uphazamisekile, okungaba nemiphumela emibi kakhulu emzimbeni. Kuleli qophelo, kubalulekile ukuqaphela ukuthi kunezinhlobo eziningana ze-thalassemia ezingenazo izici ezifanayo noma izinga elifanayo lobunzima. Abanye abanazo izimpawu kuyilapho abanye besongela ukuphila.

Izinkinga ze-thalassemia

I-Thalassemia yizifo zofuzo. Zibangelwa ukuguqulwa kofuzo olulodwa noma ngaphezulu oluhilelekile ekuhlanganiseni i-hemoglobin, futhi ngokunembile nakakhulu ukuguqulwa kwezakhi zofuzo ezihilelekile ekukhiqizeni amaketanga amaprotheni e-hemoglobin. Kunezine zazo: amaketanga e-alpha amabili namaketango amabili e-beta.

Ngalinye lala maketango lingathinteka ku-thalassemia. Futhi singahlukanisa:

• i-alpha-thalassemia ebonakala ngokushintshwa kweketango le-alpha;
• i-beta-thalassemia ebonakala ngokushintshwa kochungechunge lwe-beta.

Ubunzima be-alpha thalassemia ne-beta thalassemia buncike enanini lezakhi zofuzo ezishintshiwe. Okubaluleke kakhulu, likhulu izinga lokuqina.

Ukuxilongwa kwe-thalassemia

Ukuxilongwa kwe-thalassemia kwenziwa ukuhlolwa kwegazi. Ukubalwa kwegazi okuphelele kwenza kube nokwenzeka ukuhlola ukubukeka kanye nenani lamangqamuzana abomvu egazi, kanjalo nokwazi inani eliphelele le-hemoglobin. Ukuhlaziywa kwe-biochemical ye-hemoglobin kwenza kube nokwenzeka ukuhlukanisa i-alpha-thalassemia ne-beta-thalassemia. Ekugcineni, ukuhlaziya izakhi zofuzo kwenza kube nokwenzeka ukuhlola inani lezakhi zofuzo eziguquliwe futhi ngaleyo ndlela kuchazwe ubukhali be-thalassemia.

Abantu abathintekayo

I-Thalassemia iwufuzo lwezifo, okungukuthi, ezidluliselwa kusuka kubazali kuya ezinganeni zabo. Ikakhulukazi ifinyelela abantu abavela onqenqemeni lweMedithera, eMpumalanga Ephakathi, e-Asia nase-sub-Saharan Africa.

EFrance, ukusabalala kwe-alpha-thalassemia kulinganiselwa kumuntu oyedwa kwabangama-1. Izehlakalo ze-beta-thalassemia zilinganiselwa ekuzalweni kwe-350 ngonyaka owodwa ngonyaka emhlabeni jikelele.

Izimpawu ze-thalassemia ziyahlukahluka kakhulu kuye kwelinye icala, futhi kuncike kakhulu ezingeni lokuguqulwa kwezakhi zofuzo ezihilelekile ekukhiqizeni amaketanga eprotheyini ye-hemoglobin. I-Thalassemias ingase ingabi nazimpawu ezinhlotsheni zayo ezincane futhi ibe yingozi empilweni ngezindlela zayo ezimbi kakhulu.

Izimpawu ezibalulwe ngezansi zithinta kuphela izinhlobo ezimaphakathi nezinkulu ze-thalassemia. Lezi izimpawu eziyinhloko nje. Izimpawu eziqondile kakhulu kwesinye isikhathi zingabonakala kuye ngohlobo lwe-thalassemia.

I-anemia

Isibonakaliso esijwayelekile se-thalassemia yi-anemia. Lokhu kushoda kwe-hemoglobin okungaholela ekubukeni kwezimpawu ezahlukahlukene:

• ukukhathala;
• ukuphelelwa umoya;
• i-pallor;
• ukungakhululeki;
• ukushaya kwenhliziyo.

Ukuqina kwalezi zimpawu kuyahlukahluka kuye ngokuthi i-thalassemia inzima kangakanani.

jaundice

Abantu abane-thalassemia bangase babe ne-jaundice (i-jaundice) ebonakala esikhumbeni noma kumhlophe kwamehlo. 

Ama-gallstones

Ukwakheka kwamatshe ngaphakathi kwe-gallbladder nakho kungabonakala. Izibalo zifana “namatshana amancane”.

I-Splenomegaly

I-Splenomegaly ukukhuliswa kobende. Enye yezindima zalesi sitho ukuhlunga igazi nokuhlunga izinto eziyingozi okuhlanganisa namaseli abomvu egazi angajwayelekile. Ku-thalassemia, i-spleen ihlanganiswa ngokuqinile futhi kancane kancane ikhula ngosayizi. Kungase kuzwakale ubuhlungu.

Okunye, izimpawu ezingavamile

Okungavamile kakhulu, izinhlobo ezinzima ze-thalassemia zingaholela kwezinye izinto ezingavamile. Isibonelo, kungabonwa:

• i-hepatomegaly, okungukuthi, ukwanda kobukhulu besibindi;
• ukukhubazeka kwamathambo;
• ukukhula kwengane kubambezelekile;
• izilonda.

Ukulawulwa kwe-thalassemia kubalulekile ukuze kukhawulwe ukuvela kwalezi zinkinga.

Ukuphathwa kwe-thalassemia kuncike ezintweni eziningi ezihlanganisa uhlobo lwe-thalassemia, ubunzima bayo kanye nesimo somuntu othintekayo. Amafomu amancane kakhulu awadingi ukwelashwa kuyilapho amafomu anzima adinga ukuqashwa njalo kwezokwelapha.

Ukwelashwa okukhulunywe ngakho ngezansi kuthinta kuphela izinhlobo ezimaphakathi nezinkulu ze-thalassemia

Ukulungiswa kwe-anemia

Lapho ukuntuleka kwe-hemoglobin kukhulu kakhulu, ukumpontshelwa igazi njalo kuyadingeka. Kuhilela ukujova umuntu othintekayo ngegazi noma amangqamuzana abomvu egazi athathwe kumnikeli ukuze alondoloze izinga elamukelekayo lamangqamuzana abomvu egazi.

Ukwengezwa kwe-Vitamin B9

Kungase kunconywe ukuthi kuqalwe ukwengezwa kwe-vitamin B9 nsuku zonke ngoba isidingo sale vithamini siyanda ezimweni ze-thalassemia. I-Vitamin B9 ibandakanyeka ekukhiqizeni amangqamuzana abomvu egazi.

Splenectomy

I-splenectomy iwukususwa ngokuhlinzwa kobende. Lokhu kusebenza kungacatshangelwa lapho i-anemia ibaluleke kakhulu.

Ukwelashwa kwe-iron overload

Abantu abane-thalassemia banensimbi eningi emzimbeni wabo. Lokhu kunqwabelana kungaholela ezinkingeni ezahlukene. Yingakho i-iron chelators inikezwa ukususa insimbi eyengeziwe.

Ukufakelwa komnkantsha wethambo

Ukufakelwa komnkantsha ukuphela kwendlela yokwelapha engalapha unomphela i-thalassemia. Lokhu ukwelashwa okunzima okunikezwa kuphela ezinhlotsheni ezinzima kakhulu zesifo.

I-Thalassemia yisifo sofuzo esitholakala ngofuzo. Asikho isilinganiso sokuvimbela.

Ngakolunye uhlangothi, ukuhlolwa kofuzo kwenza kube nokwenzeka ukuthola abathwali abanempilo (abantu abanofuzo olushintshiwe olulodwa noma ngaphezulu kodwa abangaguli). Abathwali abambalwa abanempilo kufanele baziswe ngengozi yokubeletha ingane ene-thalassemia. Kwezinye izimo, le ngozi ingahlolwa isazi sofuzo. Ukuxilongwa ngaphambi kokubeletha kungacatshangelwa ngaphansi kwezimo ezithile. Kufanele kuxoxwe nodokotela wakho.