Ingaba umntwana wakho uhlala ephaphathekile kwaye ediniwe? Ngaba yiThalassemia?

Ngaba umntwana wakho omncinci ubonakala ediniwe ngalo lonke ixesha? Akabaleki aze adlale njengabanye abantwana? Ngaba akanamdla wokutya? Ngaba wakha waziva ephaphathekile? Kuqhelekile ukuba umama okanye utata azive esoyika kakhulu xa ebona izinto ezinje. Nangona ezi mpawu zinokubangelwa ziimeko eziqhelekileyo, ngamanye amaxesha kunokubakho imeko yezonyango emva koku, njengeThalassemia. Ngoko ke namhlanje, masithethe ngokuba yintoni iThalassemia, indlela eyichaphazela ngayo imizimba yethu, kunye nonyango lwayo.

Yintoni kanye kanye iThalassemia?

Ngamafutshane, i-thalassemia sisifo esidluliselwa kwilifa esichaphazela igazi lethu . Asisisifo esosulelayo. Oko kuthetha ukuba asisasazeka ukusuka komnye umntu ukuya komnye njengomkhuhlane. Yinto esiyizuza njengelifa kubazali bethu ngeejini zethu.

Ukuze sikuqonde kakuhle oku, masiqale sithethe kancinci ngeeseli ezibomvu zegazi egazini lethu. Cinga ngezi seli ezibomvu zegazi njengenkonzo yokuhambisa ioksijini ethwala imizimba yethu yonke. Isithuthi sale nkonzo yokuhambisa, oko kukuthi, inqwelo ethwala ioksijini, sibizwa ngokuba yihemoglobin . Ihemoglobin yiproteni ekhethekileyo efumaneka ngaphakathi kweeseli ezibomvu zegazi. Yile nto ithwala ioksijini emiphungeni yethu ize iyisasaze kuyo yonke iseli emzimbeni.

Umntu one-thalassemia akanako ukwenza eyaneleyo le protein ebizwa ngokuba yi-hemoglobin. Njengaxa imoto yakhiwe, ukuba ezinye zeendawo ezifunekayo azikho okanye ukuba kusetyenziswa iindawo ezingaphantsi, imoto ayizukusebenza kakuhle. Oku kubangela ukwehla kwenani leeseli ezibomvu zegazi ezisempilweni emzimbeni. Le meko siyibiza ngokuba yi -anemia yeeseli ezibomvu zegazi ezisezantsi.

Ngoko ke xa iiseli emzimbeni zingafumani umlinganiselo ofanelekileyo weoksijini, azikwazi ukuvelisa amandla eziwadingayo. Yiyo loo nto izigulane ezine-thalassemia zifumana iimpawu ezahlukeneyo.

Ngubani osengozini enkulu yokuhlaselwa sesi sifo?

Utshintsho lwemfuza olubangela oku kucingelwa ukuba lwaqala ukuvela ebantwini njengendlela yokukhusela imalariya. Ke ngoko, abantu abanxulumene nemfuza neendawo apho imalariya ixhaphake khona, njengeAfrika, kumazantsi eYurophu, kunye namazwe aseNtshona, eMzantsi, naseMpuma Asia, basengozini enkulu yokufumana ithalassemia. Ekubeni iSri Lanka ikwalilizwe laseMzantsi Asia, kukho abantu abathwala ithalassemia kunye nezigulane phakathi kwabantu bethu.

Yintoni ebangela i-thalassemia? Makhe sijonge ngokusondeleyo.

Loo "nqwelo yeoksijini" ebizwa ngokuba yihemoglobin endikhankanyileyo ngaphambili yenziwe ngeetsheyini ezine zeproteni. Ezimbini kwezi zibizwa ngokuba ziitsheyini ze -alpha globin , kwaye ezinye ezimbini zibizwa ngokuba ziitsheyini ze-beta globin .

Sifumana "imiyalelo" okanye "ikhowudi" yokwenza la makhonkco kwiijini esizizuze kubazali bethu. Cinga ngala majeni njengeresiphi yokwenza isitya. Ukuba kukho isiphene okanye impazamo kwiresiphi, isitya asinakulungiswa ngokufanelekileyo. Ngokufanayo, ukuba kukho isiphene okanye ukusilela kwezi jini, amakhonkco e-alpha okanye e-beta globin awayi kwenziwa ngokufanelekileyo. Kulapho ke kuvela imeko ebizwa ngokuba yi-thalassemia.

• Ii-alpha globin chains: Ezi zifuna ii-genes ezi-4 ukuze kwenziwe. Ezimbini zivela kumama nezimbini zivela kutata.
• Ii-beta globin chains: Ezi zifuna ii-genes ezimbini ukuze kwenziwe, enye ivela kumama enye ivela kutata.

Uhlobo lwe-thalassemia oluvelayo luxhomekeke ekubeni yeyiphi kwezi alpha okanye i-beta chains ene-gene defect. Ubunzima besifo bumiselwa linani le-genes ezine-defect.

Ziziphi iintlobo eziphambili ze-thalassemia?

I-Thalassemia yahlulwe yangamanqanaba aliqela aphambili ngokuxhomekeke kubukhali besifo. Oko kukuthi, uphawu lwe-thalassemia, i-thalassemia minor, i-thalassemia intermedia, kunye ne-thalassemia major . Kwimeko yokuthwala, usenokungabi nazimpawu. Okanye usenokuba ne-anemia encinci kakhulu. I-Thalassemia major yeyona meko inzima kakhulu efuna unyango.

Kukho iintlobo ezimbini eziphambili, kuxhomekeke ekubeni isiphene semfuza sikwimixokelelwane ye-alpha okanye imixokelelwane ye-beta.

1. I-Alpha Thalassemia

Le meko yenzeka xa kukho isiphene kwenye okanye ngaphezulu kwezi-4 zezakhi zofuzo ezenza i-alpha globin chains. Ubunzima beempawu buxhomekeke kwinani lezakhi zofuzo ezinesiphene. Makhe sijonge oku ngendlela elula ukuze sikuqonde.

2. I-Beta Thalassemia

Le meko yenzeka xa kukho isiphene kwenye okanye zombini iijini ezimbini ezenza ii-beta globin chains (enye ivela kumama, enye ivela kutata).

• I-gene enye enesiphako: Le meko ibizwa ngokuba yi-beta thalassemia minor okanye i-carrier state. Iimpawu zincinci kakhulu.
• Iijini ezimbini ezineengxaki: Iimpawu zingaqala kweziphakathi ukuya kwezinzima.
• Imeko ephakathi ibizwa ngokuba yiThalassemia intermedia .
• Olona hlobo lubi kakhulu lubizwa ngokuba yi-beta thalassemia major okanye i-Cooley's anemia . Aba bantu bafuna unyango oluqhubekayo.

Zithini iimpawu ze-thalassemia?

Iimpawu ozifumanayo zixhomekeke ngokupheleleyo kuhlobo lwe-thalassemia onayo kunye nobunzima bayo.

Akukho zimpawu okanye iimpawu ezibuthathaka kakhulu

Ukuba uphoswa yi-gene enye kwezi zine ze-alpha, mhlawumbi awuyi kuba nazimpawu. Ukuba ii-gene ezimbini ze-alpha okanye i-gene enye ye-beta zinesiphako, usenokungabi nazimpawu konke konke. Okanye usenokuba neempawu ze-anemia ezincinci, njengokuziva udiniwe ngalo lonke ixesha.

Iimpawu eziphakathi (iThalassemia Intermedia)

Aba bantu banokufumana ezinye iimpawu ukongeza kwi-anemia encinci.

• Ukungaphumeleli ukukhula: Ukuphakama nobunzima bomntwana akwandi ngokweminyaka yakhe.
• Ukufikisa okulibazisekileyo.
• Ukungahambi kakuhle kwamathambo:Iimeko ezifana ne-osteoporosis.
• I-spleen ekhulisiweyo: I-spleen sisitho esikwicala lasekhohlo lesisu sethu esisinceda ekulweni nosulelo.

Iimpawu eziqatha (iThalassemia Major)

Iimpawu eziqatha zenzeka kwiimeko ezifana neziphene ezintathu ze-alpha gene (isifo se-Hemoglobin H) kunye ne-beta thalassemia major (i-Cooley's anemia). Ezi mpawu zihlala ziqala ukubonakala ngaphambi kokuba umntwana abe neminyaka emibini ubudala .

Ukongeza kwiimpawu ezingasentla, unokubona oku kulandelayo:

• Ukutya akunancasa.
• Ulusu olumhlophe okanye olumthubi (i-jaundice).
• Umchamo omnyama (onombala weti).
• Ukungaqheleki kwamathambo obuso (ngenxa yokukhula kakhulu kwamathambo entloko).

Indlela yokuxilonga esi sifo?

I-thalassemia ephakathi neqatha idla ngokufunyaniswa kwasebuntwaneni, njengoko iimpawu ziqala ukubonakala kwiminyaka emibini yokuqala yobomi bomntwana. Ugqirha wakho unokuyalela iimvavanyo ezahlukeneyo zegazi ukuqinisekisa ukuxilongwa.

• Ukubalwa kwegazi okupheleleyo (CBC): Oku kulinganisa ubungakanani be-hemoglobin egazini, inani leeseli ezibomvu zegazi, kunye nobukhulu bazo. Abantu abane-thalassemia baneeseli ezibomvu zegazi ezimbalwa ezisempilweni kunye ne-hemoglobin encinci. Iiseli ezibomvu zegazi nazo zinokuba zincinci kunesiqhelo.
• Inani lee-reticulocyte: Oku kulinganisa inani leeseli ezibomvu zegazi ezisandula ukwenziwa. Oku kunokukunika umbono wokuba ingaba umongo wakho wethambo uvelisa iiseli ezibomvu zegazi ezaneleyo na.
• Izifundo ze-iron: Olu vavanyo lunceda ekuchongeni ngokuchanekileyo ukuba i-anemia yakho ibangelwa kukunqongophala kwe-iron okanye i-thalassemia.
• I-Hemoglobin electrophoresis: Olu luvavanyo olubaluleke kakhulu ekuxilongeni i-beta thalassemia.
• Uvavanyo lwe-genetic: Olu vavanyo lusetyenziselwa ukuxilonga i-alpha thalassemia.

Ziziphi iindlela zonyango lwe-thalassemia?

Unyango oluqhelekileyo lwezifo ezinzima ezifana ne-thalassemia major lutofelo-gazi kunye nonyango lokususa isinyithi.

• Utofelo-gazi: Ngamafutshane, olu lutofelo-gazi lwangaphandle. Igazi elineeseli ezibomvu zegazi eziphilileyo linikezelwa emzimbeni ngomthambo. Oku kubuyisela iiseli ezibomvu zegazi ezisempilweni kunye namanqanaba e-hemoglobin. Kwiimeko ezinzima ze-thalassemia (umz., i-beta thalassemia major), utofelo-gazi lunokufuneka rhoqo, njengakwiiveki ezi-2-4 .
• Unyango lwe-Iron Chelation:Esinye seziphumo ezimbi kakhulu zokunikela ngegazi rhoqo kukunyuka okungeyomfuneko kwamanqanaba esinyithi emzimbeni. Oku sikubiza ngokuba yi -iron overload . Le iron eyongezelelweyo inokuqokelelwa kwizitho ezibalulekileyo ezifana nentliziyo nesibindi kwaye yonakalise. Ke ngoko, abantu abafumana igazi rhoqo banikwa amayeza (iipilisi okanye inaliti) asusa le iron eyongezelelweyo emzimbeni.
• Izongezo zeFolic Acid: I-Folic acid inikwa ukunceda umzimba wenze iiseli zegazi ezisempilweni.
• Ukufakelwa kweBone Marrow kunye neStem Cell: Okwangoku lolona nyango lunokunyanga ngokupheleleyo i-thalassemia. Nangona kunjalo, ngenxa yoku, isigulana sifuna umntu onempilo ofanelekileyo. Amaxesha amaninzi, ngumnakwenu okanye udadewenu. Olu lunyango olunobungozi kakhulu nolunzima.
• I-Luspatercept: Le yi-vaccine enikwa rhoqo emva kweeveki ezintathu. Isebenza ngokunceda umzimba uvelise iiseli ezibomvu zegazi ezingaphezulu.

Ubomi bunjani ngesi sifo? Ngaba sinokuthintelwa?

Ukuba une-thalassemia minor, ungalindela ubomi obuqhelekileyo. Nokuba imeko yakho iphakathi okanye imbi, ukuba ulandela isicwangciso sonyango esimiselweyo (utofelo-gazi kunye nonyango lokususa isinyithi) ngokuchanekileyo, unethuba elihle lokuphila ubomi obude.

Esi sifo sibangelwa lufuzo, ngoko ke asinakusithintela. Nangona kunjalo, uvavanyo lofuzo lunokukunceda ufumanise ukuba wena okanye iqabane lakho ninayo na i-thalassemia gene. Ukwazi olu lwazi kubaluleke kakhulu kwizibini eziceba ukuba nomntwana. Thetha nogqirha wakho ukuze ufumane iingcebiso ezithe vetshe ngale nto.

Ekugqibeleni, i-thalassemia sisifo esilawulekayo. Uhlobo lonyango olufunekayo kunye nokuba ulufuna kangaphi luya kuxhomekeka kubukhali bemeko yakho. Kubalulekile ukuba nengxoxo evulekileyo nogqirha wakho malunga nemeko yakho kunye nesicwangciso sakho sokhathalelo lwexesha elide.