Thalassemia

Iyini i-thalassemia?

I-Thalassemia yisifo segazi esiwufuzo lapho umzimba ukhiqiza uhlobo oluhlukile lwe-hemoglobin noma amanani anganele e-hemoglobin. I-Hemoglobin iyiphrotheni ethwala umoya-mpilo emangqamuzaneni abomvu egazi. I-anemia ibangelwa isimo, esidala ukuthi inani elikhulu lamangqamuzana egazi abomvu libhujiswe.

I-Thalassemia yisimo segazi sofuzo lapho umzimba wakho ukhiqiza i-hemoglobin encane kakhulu kunalokho okufanele. I-Hemoglobin iyiphrotheni evumela amangqamuzana abomvu egazi ukuthutha umoya-mpilo. I-Thalassemia ingabangela i-anemia, engase ikukhathaze.

Uma i-thalassemia yakho incane, ungase ungadingi ukwelashwa. Nokho, izimo ezimbi kakhulu zingase zidinge ukumpontshelwa igazi njalo. Ungakwazi ukubhekana nokukhathala ngokudla ukudla okulinganiselayo nokuzivocavoca njalo.

I-Thalassemia yisifo segazi esitholakala ngofuzo esibonakala ngokukhiqizwa kwefomu elingavamile le-hemoglobin ngumzimba. I-Hemoglobin iyi-molecule yamaprotheni ethwala umoya-mpilo emangqamuzaneni abomvu egazi.

I-anemia ibangelwa ukuwohloka ngokweqile kwamangqamuzana egazi abomvu kwalesi sifo. I-anemia yisifo lapho umzimba wakho ungenawo amangqamuzana abomvu egazi anempilo.

I-Thalassemia yisimo sofuzo esidinga okungenani oyedwa wabazali bakho ukuthi abe umthwali. Ukuguqulwa kofuzo noma ukulahlekelwa amasegimenti ofuzo athile abalulekile kuyawubangela.

Thalassemia minor is a milder variant of the condition. There are two types of thalassemia that are more dangerous than the other. At least one of the alpha globin genes has a mutation or aberration in alpha thalassemia. The beta globin genes are compromised in i-beta thalassemia.

Kunezinhlobo ezincane ezihlukene ze-thalassemia kuhlobo ngalunye lwalezi zinhlobo. Ukuqina kwezimpawu zakho kanye nokubikezela kwakho kuzothonywa uhlobo onalo.

Izimpawu ze-thalassemia

Izimpawu ze-thalassemia zingahluka. Ezinye ezivame kakhulu zihlanganisa:

ukukhubazeka kwamathambo, ikakhulukazi ebusweni
umchamo omnyama
ukukhula nokuthuthuka kwabambezeleka
ukukhathala ngokweqile nokukhathala
isikhumba esiphuzi noma esiphaphathekile
Akuwona wonke umuntu onezimpawu ezibonakalayo ze-thalassemia. Izimpawu zalesi sifo zivame ukubonakala kamuva ebuntwaneni noma ebusheni.

Izinkinga ze-thalassemia

I-Thalassemia ibangelwa ukuguqulwa noma ukungahambi kahle kwesinye sezakhi zofuzo ezibhekene nokuhlanganiswa kwe-hemoglobin. Lokhu kuphazamiseka kofuzo kudluliswa kubazali bakho kuya kuwe.

Uma kuphela umzali wakho oyedwa ophethe i-thalassemia, ungase uthole i-thalassemia encane, okuwuhlobo oluncane lwalesi sifo. Ngeke ube nezimpawu uma lokhu kwenzeka, kodwa uzoba inkampani yenethiwekhi. Izimpawu ezithambile ziyavela kwezinye iziguli ezine-thalassemia encane.

Unethuba eliphezulu lokuthola uhlobo olubi kakhulu lwe-thalassemia uma bobabili abazali bakho bengabathwali.

Abantu abavela e-Asia, eMpumalanga Ephakathi, e-Afrika, namazwe aseMedithera afana neGreece neTurkey yibona okungenzeka kakhulu ukuthi babe ne-thalassemia.

I-Alpha-thalassemia

Izakhi zofuzo ezine zihilelekile ekwenzeni uchungechunge lwe-alpha hemoglobin. Uthola amabili kumzali wakho ngamunye. Uma uthola ifa:

• Isakhi sofuzo esisodwa esiguquliwe, ngeke ube nezimpawu noma izimpawu ze-thalassemia. Kodwa wena ungumthwali wesifo futhi ungasidlulisela ezinganeni zakho.
• Izakhi zofuzo ezimbili eziguquliwe, izimpawu zakho ze-thalassemia nezimpawu zizoba mnene. Lesi simo singabizwa ngokuthi isici se-alpha-thalassemia.
• Izakhi zofuzo ezintathu eziguquliwe, izimpawu zakho kanye nezimpawu zizoba ngokulinganisela kuye kokuqina.

Ukuthola izakhi zofuzo ezine eziguquliwe akuvamile futhi ngokuvamile kuholela ekuzalweni komntwana oshonile. Izingane ezizalwa zinalesi simo ngokuvamile ziyafa ngemva nje kokuzalwa noma zidinga ukwelashwa ngokumpontshelwa impilo yonke. Ezimweni ezingavamile, ingane ezalwa inalesi simo ingelashwa ngokumpontshelwa kanye nokufakelwa kwe-stem cell.

I-Beta-thalassemia

Izakhi zofuzo ezimbili zihilelekile ekwenzeni iketango le-beta hemoglobin. Uthola eyodwa kubazali bakho ngamunye. Uma uthola ifa:

• Isakhi sofuzo esisodwa esiguquliwe, uzoba nezimpawu nezimpawu ezithambile. Lesi simo sibizwa nge-thalassemia minor noma i-beta-thalassemia.

• Izakhi zofuzo ezimbili eziguquliwe, izimpawu zakho kanye nezimpawu zizoba ngokulinganisela kuye kokuqina. Lesi simo sibizwa ngokuthi i-thalassemia enkulu, noma i-Cooley anemia.

  Izingane ezizalwa zinezakhi zofuzo ezimbili ze-beta hemoglobin enesici ngokuvamile ziba nempilo lapho zizalwa kodwa ziba nezimpawu nezimpawu phakathi neminyaka emibili yokuqala yokuphila. Ifomu elithambile, elibizwa nge-thalassemia intermedia, nalo lingavela ezakhini zofuzo ezimbili eziguquliwe.

Ukuxilongwa kwe-thalassemia

Isampula yegazi cishe izothathwa uma udokotela wakho ezama ukuxilonga i-thalassemia. Lesi sampula sizothunyelwa elebhu ukuze sihlolelwe i-anemia kanye namazinga e-hemoglobin angajwayelekile. Uchwepheshe welebhu uzohlola igazi ngesibonakhulu ukuze abone ukuthi akhona yini amangqamuzana abomvu egazi anomumo ngendlela engavamile.

I-Thalassemia ibonakala ngamaseli abomvu egazi akhiwe ngendlela engavamile. I-Hemoglobin electrophoresis ingolunye uvivinyo uchwepheshe belebhu angalwenza. Lokhu kuhlola kuhlukanisa amakhemikhali ahlukahlukene kumangqamuzana abomvu egazi, okuvumela uhlobo oluphambukayo lubonakale.

Ukuhlola umzimba kungase futhi kusize udokotela wakho ekuxilongeni, kuye ngohlobo nobukhulu be-thalassemia yakho. I-spleen ekhuliswe kakhulu, isibonelo, ingabonisa isifo se-hemoglobin H kudokotela wakho.

Ukuhlolwa ngaphambi kokubeletha

Ukuhlolwa kungenziwa ngaphambi kokuba umntwana azalwe ukuze kutholwe ukuthi unayo yini i-thalassemia futhi kunqunywe ukuthi ingaba nzima kangakanani. Ukuhlolwa okusetshenziselwa ukuxilonga i-thalassemia ezinsaneni kuhlanganisa:

• Isampula ye-chorionic villus. Ngokuvamile kwenziwa phakathi nesonto le-11 lokukhulelwa, lokhu kuhlola kuhilela ukukhipha ucezu oluncane lwe-placenta ukuze luhlolwe.
• I-Amniocentesis. Ngokuvamile kwenziwa phakathi nesonto le-16 lokukhulelwa, lokhu kuhlola kuhilela ukuhlola isampula yoketshezi oluzungeze umbungu.

Ukwelashwa kwe-thalassemia

Izinhlobo ezithambile zesici se-thalassemia azidingi ukwelashwa.

Ukuze uthole i-thalassemia emaphakathi ukuya kokuqina, ukwelashwa kungafaka:

• Ukumpontshelwa igazi njalo. Izinhlobo ezinzima kakhulu ze-thalassemia ngokuvamile zidinga ukumpontshelwa igazi njalo, ngokunokwenzeka njalo ngemva kwamasonto ambalwa. Ngokuhamba kwesikhathi, ukumpontshelwa igazi kubangela ukunqwabelana kwensimbi egazini lakho, okungalimaza inhliziyo yakho, isibindi nezinye izitho zomzimba.

• Ukwelashwa kwe-Chelation. Lokhu ukwelashwa ukususa i-iron eningi egazini lakho. I-ayoni ingakhula ngenxa yokumpontshelwa njalo. Abanye abantu abane-thalassemia abangampontshelwa njalo bangase babe nensimbi eyeqile. Ukukhipha i-iron eyeqile kubalulekile empilweni yakho.

  Ukuze usize ukukhipha i-ayoni eyengeziwe emzimbeni wakho, kungase kudingeke uphuze imithi yomlomo, njenge-deferasirox (Exjade, Jadenu) noma i-deferiprone (Ferriprox). Omunye umuthi, i-deferoxamine (Desferal), unikezwa ngenaliti.

• Ukufakelwa kwe-stem cell. Okubizwa nangokuthi ukufakelwa komnkantsha, ukufakelwa kwe-stem cell kungase kube inketho kwezinye izimo. Ezinganeni ezine-thalassemia enzima, ingaqeda isidingo sokumpontshelwa igazi impilo yonke kanye nezidakamizwa zokulawula ukugcwala kwensimbi.

  Le nqubo ihilela ukuthola ukufakwa kwama-stem cells kusuka kumnikeli ohambisanayo, ngokuvamile okuyingane yakini.