Thalassemia

I-Thalassemia sisifo segazi esidluliselwe kwiintsapho (ezizuzwe njengelifa) apho umzimba wenza ifom engaqhelekanga okanye inani elaneleyo le-hemoglobin. IHemoglobin yiprotein ekwiiseli ezibomvu zegazi ezithwala ioksijini. Ukuphazamiseka kubangela inani elikhulu leeseli ezibomvu ezitshatyalaliswayo, ezikhokelela kwi-anemia.

Ihemoglobin yenziwe ngeeproteni ezimbini:

• IAlfa globin
• Iglobin yeBeta

I-Thalassemia yenzeka xa kukho isiphako kwimfuza enceda ukulawula imveliso yenye yezi proteni.

Zimbini iintlobo eziphambili zethalassemia:

• I-Alpha thalassemia yenzeka xa i-gene okanye ii-genes ezinxulumene ne-alpha globin protein zilahlekile okanye zitshintshiwe (ziguqukile).
• I-Beta thalassemia yenzeka xa iziphene zemfuza ezifanayo zichaphazela imveliso ye-beta globin protein.

I-Alpha thalassemias yenzeka kakhulu kubantu abavela kwi-Mpuma ye-Asia, kuMbindi Mpuma, China, nakwabo baseAfrika.

I-Beta thalassemias yenzeka kakhulu kubantu abavela kwimvelaphi yeMeditera. Ukuya kwinqanaba elincinci, amaTshayina, abanye abantu baseAsia, kunye nabaseMelika baseMelika banokuchaphazeleka.

Zininzi iindlela zethalassemia. Uhlobo ngalunye lunee-subtypes ezininzi ezahlukeneyo. Zombini i-alpha kunye ne-beta thalassemia zibandakanya ezi ndlela zilandelayo:

• I-Thalassemia enkulu
• Thalassemia encinci

Kuya kufuneka ulizuze njengelifa isiphene semfuza esivela kubazali bobabini ukuze ukhulise i-thalassemia enkulu.

I-Thalassemia encinci iyenzeka ukuba ufumana i-gene engalunganga kumzali omnye kuphela. Abantu abanolu hlobo lwesifo bangabathwali besi sifo. Uninzi lwexesha, abanazo iimpawu.

I-Beta thalassemia enkulu ikwabizwa ngokuba yi-Cooley anemia.

Imiba yomngcipheko we-thalassemia ibandakanya:

• Ama-Asiya, amaTshayina, iMeditera, okanye ubuhlanga base-Afrika baseMelika
• Imbali yosapho yokuphazamiseka

Olona hlobo luqatha lwealpha thalassemia lubangela ukubeleka (ukufa kosana olungekazalwa ngexesha lokuzalwa okanye kwinqanaba lokukhulelwa).

Abantwana abazalwa benesifo esikhulu se-beta thalassemia (Cooley anemia) baqhelekile xa bezalwa, kodwa baba ne-anemia enkulu kunyaka wokuqala wobomi.

Ezinye iimpawu zingabandakanya:

• Ukukhubazeka kwethambo ebusweni
• Ukudinwa
• Ukungaphumeleli ukukhula
• Ukuqhawukelwa ngumphefumlo
• Isikhumba esimthubi (i-jaundice)

Abantu abanefom encinci ye-alpha kunye ne-beta thalassemia baneeseli ezibomvu zegazi kodwa ababi nazimpawu.

Umboneleli wakho wezempilo uya kwenza uvavanyo lomzimba ukukhangela ipeni eyandisiweyo.

Isampuli yegazi iya kuthunyelwa elebhu ukuvavanywa.

• Iiseli ezibomvu zegazi ziya kubonakala zincinci kwaye zimile ngokungaqhelekanga xa zijongwa ngemicroscope.
• Inani elipheleleyo legazi (CBC) libonisa i-anemia.
• Uvavanyo olubizwa ngokuba yihemoglobin electrophoresis lubonisa ubukho behemoglobin yohlobo olungaqhelekanga.
• Uvavanyo olubizwa ngokuba luhlalutyo lokutshintsha lunokunceda ekufumaneni i-alpha thalassemia.

Unyango lwe-thalassemia enkulu ihlala ibandakanya ukutofelwa igazi rhoqo kunye nokufakwa kwifom.

Ukuba utofelwa igazi, akufuneki uthathe izongezo zentsimbi. Ukwenza njalo kunokubangela ukuba inani elikhulu le-iron lakheke emzimbeni, elinokuba yingozi.

Abantu abafumana utofelo-gazi oluninzi bafuna unyango ekuthiwa lunyango lwe-chelation. Oku kwenzelwa ukususa i-iron engaphezulu komzimba.

Ukufakelwa komongo wethambo kunokunceda ukunyanga esi sifo kwabanye abantu, ngakumbi abantwana.

I-thalassemia enamandla inokubangela ukusweleka kwangaphambi kwexesha (phakathi kweminyaka engama-20 ukuya kwengama-30) ngenxa yokusilela kwentliziyo. Ukufumana utofelo-gazi rhoqo kunye nonyango lokususa i-ayoni emzimbeni kunceda ekuphuculeni iziphumo.

Iifom ezingaphantsi kakhulu ze-thalassemia zihlala zinganciphisi ixesha lokuphila.

Unokufuna ukufumana iingcebiso ngemfuzo ukuba unembali yosapho ngale meko kwaye ucinga ukuba nabantwana.

Ukunganyangwa, i-thalassemia enkulu ikhokelela ekusileleni kwentliziyo kunye neengxaki zesibindi. Ikwenza ukuba umntu abe namathuba okuba abe nosulelo.

Utofelo-gazi lunokunceda ukulawula ezinye iimpawu, kodwa lube nomngcipheko weziphumo ebezingalindelekanga zentsimbi eninzi.

Fowunela umnikezeli wakho ukuba:

• Wena okanye umntwana wakho uneempawu ze-thalassemia.
• Uyanyangelwa ukuphazamiseka kwaye iimpawu ezintsha ziyavela.

Anemia yeMeditera; I-cooley anemia; Beta thalassemia; I-alpha thalassemia

• I-Thalassemia enkulu
• Thalassemia encinci

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IChapin J, uGiardina PJ. I-Thalassemia syndromes. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ii-eds. I-Hematology: Imigaqo esisiseko kunye nokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 40.

USmith-Whitley K, Kwiatkowski JL. IHemoglobinopathies. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 489.