Thalassemia

I-Thalassemia yisifo segazi esidluliselwa emindenini (ezuzwe njengefa) lapho umzimba wenza khona ifomu elingavamile noma inani elinganele le-hemoglobin. IHemoglobin yiprotheni esemaseli abomvu egazi ethwala umoya-mpilo. Lesi sifo siholela ekutheni kubhujiswe inani elikhulu lamaseli abomvu egazi, okuholela ekushoneni kwegazi.

IHemoglobin yenziwa ngamaprotheni amabili:

• I-Alpha globin
• I-Blob globin

I-Thalassemia yenzeka lapho kunesici esakhiweni esisiza ukulawula ukukhiqizwa kwelinye lalawa maprotheni.

Kunezinhlobo ezimbili ezinkulu ze-thalassemia:

• I-Alpha thalassemia yenzeka lapho ufuzo noma izakhi zofuzo ezihlobene ne-alpha globin protein zilahlekile noma ziguqulwa (ziguqukile).
• I-beta thalassemia yenzeka lapho ukukhubazeka kofuzo okufanayo kuthinta ukukhiqizwa kweprotheni ye-beta globin.

I-Alpha thalassemias yenzeka kaningi kubantu abavela eningizimu-mpumalanga ye-Asia, eMpumalanga Ephakathi, eChina, nakulabo abadabuka e-Afrika.

Ama-Beta thalassemias avela kakhulu kubantu abavela eMedithera. Kancane kancane, amaShayina, abanye abantu base-Asiya kanye nabaseMelika baseMelika bangathinteka.

Kunezinhlobo eziningi ze-thalassemia. Uhlobo ngalunye lunezinhlokwana eziningi ezahlukahlukene. Kokubili i-alpha ne-beta thalassemia ifaka phakathi amafomu amabili alandelayo:

• I-Thalassemia enkulu
• IThalassemia encane

Kufanele uzuze ifa lokukhubazeka kofuzo kubazali bobabili ukuze uthuthukise i-thalassemia enkulu.

I-Thalassemia encane yenzeka uma uthola ufuzo olungalungile kumzali oyedwa kuphela. Abantu abanale ndlela yokuphazamiseka bayizifo zesifo. Isikhathi esiningi, abanazo izimpawu.

I-Beta thalassemia enkulu ibizwa nangokuthi yi-Cooley anemia.

Izici zobungozi be-thalassemia zifaka:

• I-Asia, Chinese, Mediterranean, noma ubuhlanga base-Afrika baseMelika
• Umlando womndeni walesi sifo

Ifomu elibi kakhulu le-alpha thalassemia libangela ukuzalwa koshona (ukufa kwengane engakazalwa ngesikhathi sokuzalwa noma izigaba ezedlule zokukhulelwa).

Izingane ezizalwa zine-beta thalassemia major (Cooley anemia) zivamile lapho zizalwa, kodwa ziba ne-anemia enamandla ngonyaka wokuqala wokuphila.

Ezinye izimpawu zingabandakanya:

• Ukukhubazeka kwamathambo ebusweni
• Ukukhathala
• Ukwehluleka kokukhula
• Ukuphelelwa umoya
• Isikhumba esiphuzi (i-jaundice)

Abantu abanefomu elincane le-alpha ne-beta thalassemia banamaseli abomvu egazi amancane kepha abanazimpawu.

Umhlinzeki wakho wezokunakekelwa kwempilo uzokwenza isivivinyo somzimba ukuze afune ubende obukhulisiwe.

Isampula yegazi izothunyelwa elabhorethri ukuze ihlolwe.

• Amaseli abomvu egazi azovela amancane futhi abunjwe ngokungajwayelekile lapho ebhekwa ngaphansi kwesibonakhulu.
• Ukubalwa kwegazi okuphelele (i-CBC) kuveza i-anemia.
• Ukuhlolwa okubizwa ngokuthi i-hemoglobin electrophoresis kukhombisa ubukhona besimo esingajwayelekile se-hemoglobin.
• Isivivinyo esibizwa ngokuthi yi-mutational analysis singasiza ukuthola i-alpha thalassemia.

Ukwelashwa kwe-thalassemia enkulu kuvame ukufaka ukumpontshelwa igazi njalo kanye nezithasiselo ze-folate.

Uma uthola ukumpontshelwa igazi, akufanele uthathe izithako zensimbi. Ukwenza njalo kungadala inani eliphezulu lensimbi emzimbeni, okungaba yingozi.

Abantu abathola ukumpontshelwa igazi okuningi badinga ukwelashwa okubizwa nge-chelation therapy. Lokhu kwenzelwa ukususa insimbi eyeqile emzimbeni.

Ukufakelwa komnkantsha kungasiza ekwelapheni lesi sifo kwabanye abantu, ikakhulukazi ezinganeni.

I-thalassemia enamandla ingadala ukufa kwangaphambi kwesikhathi (phakathi kweminyaka engama-20 nengama-30) ngenxa yokwehluleka kwenhliziyo. Ukuthola ukumpontshelwa igazi nokwelashwa okususa i-ayoni emzimbeni kusiza ukuthuthukisa umphumela.

Izinhlobo ezingaphansi kakhulu ze-thalassemia kaningi azifinyezi isikhathi sokuphila.

Ungahle ufune ukwelulekwa ngezakhi zofuzo uma unomlando womndeni waleso simo futhi ucabanga ngokuba nezingane.

Ukungalashwa, i-thalassemia enkulu iholela ekuhlulekeni kwenhliziyo nasezinkinga zesibindi. Futhi kwenza umuntu abe sethubeni lokuthola izifo.

Ukumpontshelwa igazi kungasiza ekulawuleni ezinye izimpawu, kepha kuthwala ingozi yemiphumela emibi yensimbi eningi kakhulu.

Shayela umhlinzeki wakho uma:

• Wena noma ingane yakho unezimpawu ze-thalassemia.
• Welashelwa lesi sifo futhi izimpawu ezintsha ziyakhula.

I-anemia yaseMedithera; I-cooley anemia; I-beta thalassemia; I-Alpha thalassemia

• I-Thalassemia enkulu
• IThalassemia encane

ICappellini MD. Ama-thalassemias. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 153.

UChapin J, uGiardina PJ. Ama-syndromes eThalassemia. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ama-eds. I-Hematology: Izimiso Eziyisisekelo Nokuzijwayeza. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 40.

USmith-Whitley K, Kwiatkowski JL. Ama-hemoglobinopathies. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 489.