Ènya nu tso Beta Thalassemia ŋua? Mina míaƒo nu tso eŋu bɔbɔe!

Èse dɔléle si woyɔna be ‘thalassemia’ ŋu nya kpɔa? Ðewohĩ nɔnɔme sia le wò ƒomea me alo xɔ̃wò aɖe ŋu. Le nyateƒe me la, esia nye dɔléle si do ƒome kple míaƒe ʋu. Egbea míele nu ƒom tso thalassemia ƒomevi vevitɔwo dometɔ ɖeka si nye Beta Thalassemia ŋu . Togbɔ be ŋkɔ sia aɖi nya sesẽ vie hã la, míaƒo nu tso eŋu bɔbɔe ŋutɔ, le mɔ si gɔme nàte ŋu ase nu.

Nukae nye Beta Thalassemia?

Kpuie ko la, beta thalassemia nye ʋumenugbagbeviɣidɔ si me míaƒe ŋutilã mate ŋu awɔ hemoglobin nyuie o . Fifia ɖewohĩ èle biabiam be, "Nukae nye hemoglobin?" Hemoglobin nye protein si le míaƒe ʋumenugbagbevi dzĩwo me si me iron sɔ gbɔ ɖo. Le nyateƒe me la, eyae nye nu vevitɔ si le ʋumenugbagbevi dzĩwo me.

Bu eŋu ale: hemoglobin le abe ʋu aɖe si kpena ɖe míaƒe ʋumenugbagbevi dzĩwo ŋu be woatsɔ ɔksidzin ene. Ʋumenugbagbevi dzĩ siawo tsɔa ɔksidzin yia lãmenugbagbevi kple lãkusi bubuwo me le ŋutilã bliboa me. Eyata, míaƒe lãmenugbagbeviwo zãa ɔksidzin sia tsɔ wɔa ŋusẽ.

Beta thalassemia nye thalassemia ƒomevi vevi eveawo dometɔ ɖeka. Le esia me la, tɔtrɔ aɖewo (domenyiŋusẽfianu ƒe tɔtrɔ), si fia vodada sue aɖe, le domenyiŋusẽfianu siwo le míaƒe hemoglobin protein me la me. Le domenyiŋusẽfianu ƒe vodada sia ta la, míaƒe ŋutilã mete ŋu wɔa beta-globin protein si le hemoglobin me nyuie o.

Aleke beta thalassemia kpɔa ŋusẽ ɖe nye ŋutilã dzii?

Ne míaƒe ŋutilã ƒe beta-globin wɔwɔ dzi ɖe kpɔtɔ la, míaƒe ʋumenugbagbevi dzĩwo gblẽna. Emegbe woɖea ʋumenugbagbevi dzĩ siawo siwo gblẽ la ɖa le ʋua me kaba. Azɔ bu eŋu kpɔ, nukae adzɔ ne womate ŋu awɔ ʋumenugbagbevi dzĩ yeyewo atsɔ axɔ ɖe esiwo bu teƒe o? Ɣemaɣie ʋusɔgbɔdɔ , alo ʋu ƒe veve, va doa mo ɖa.

Ʋusɔgbɔdɔ ƒe dzesiwo dzena ne ʋumenugbagbevi dzĩwo mesɔ gbɔ na mí be wòatsɔ oxygen ayi míaƒe ŋutilã ƒe lãkusiwo me o. Emegbe lãmeka mawo mekpɔa ɔksidzin si sɔ o. Ʋusɔgbɔdɔ ƒe dzesi siwo dona tso beta thalassemia me ate ŋu atso esiwo mesẽ o dzi va ɖo esiwo nu sẽ , le alesi wò ʋumenugbagbevi dzĩwo ƒe xexlẽme le sue nu.

Amekawoe le afɔku gã me be woaxɔ beta thalassemia?

Beta thalassemia nye domenyiŋusẽfianu ƒe dɔléle si ƒe dome wonyi . Esia fia be ɖeviwo nyia domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ si do ƒome kple dɔléle sia ƒe dome tso wo dzilawo gbɔ. Ame akpa gãtɔ siwo ŋu beta thalassemia le la le dukɔwo abe Afrika, Mediterranea nutoa, Titina Ɣedzeƒe, India kple Anyieheɣedzeƒe Asia ene. Gake le ʋuʋu yi xexeame godoo ta la, wole beta thalassemia dɔnɔwo hã gblɔm fifia le Dziehe Europa kple Dziehe Amerika. Wokpɔa dɔléle sia le míaƒe dukɔ, Sri Lanka hã me.

Aleke gbegbee beta thalassemia bɔe?

Ènya be thalassemia ye nye nusi koŋ gbɔ ʋusɔgbɔdɔ si ƒe dome wonyi tsona? Wokpɔa beta thalassemia dɔnɔ yeye akpe geɖe ƒe sia ƒe. Gake nya nyuiae nye be esi mɔxexeɖedɔlélea nu ƒe mɔnuwo abe dodokpɔ be woatsɔ ade dzesi amesiwo ŋu thalassemia domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ le ene nyo ɖe edzi ta la, amesiwo ŋu dɔlélea le dzi ɖe kpɔtɔ va ɖo afi aɖe .

Nukae hea beta thalassemia vɛ?

Nu vevitɔ si gbɔ beta thalassemia tsonae nye domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ (nutation) si xea mɔ na beta-globin wɔwɔ le míaƒe ŋutilã me. Abe alesi míegblɔe xoxo ene la, protein kɔsɔkɔsɔ enee nye hemoglobin: alpha-globin kɔsɔkɔsɔ eve kple beta-globin kɔsɔkɔsɔ eve. Gblẽƒe siwo le alpha-globin kɔsɔkɔsɔa me hea alpha thalassemia vɛ, eye beta-globin kɔsɔkɔsɔa ƒe gbegblẽ hea beta thalassemia vɛ. Ne globin kɔsɔkɔsɔ siawo dometɔ aɖe mehiã o la, ʋumenugbagbevi dzĩawo gblẽna eye wogblẽna.

Ènyi domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ si na beta thalassemia la dome le autosomal recessive ƒe ɖoɖo nu . Esia dzɔna ne dzila ŋutɔŋutɔ eveawo siaa tsɔ domenyiŋusẽfianu si gblẽ ƒe kɔpi ɖeka kple domenyiŋusẽfianu si sɔ ƒe kɔpi ɖeka ɖe asi. Le beta thalassemia ƒomevi si nu sẽ wu me la, ènyi domenyiŋusẽfianu si gblẽ la ƒe kɔpi ɖeka ƒe dome tso dzila eveawo siaa gbɔ.

Gake ƒã ŋutɔ be beta thalassemia ate ŋu atso beta-globin domenyiŋusẽfianu ɖeka si gblẽ ƒe domenyinyi gbɔ. Woyɔa esia be autosomal dominant pattern .

Beta thalassemia ƒomevi kawoe nye?

Alesi wò dɔlélea nu sẽe nɔ te ɖe domenyiŋusẽfianu siwo gblẽ ƒe xexlẽme si ƒe dome nènyi kple afisi dɔlélea le dzi. Domenyiŋusẽfianu aɖewo ƒe gbɔdzɔgbɔdzɔ wɔnɛ be womewɔa beta-globin kura o (si woyɔna be beta-zero thalassemia ). Gblẽƒe bubuwo nana beta-globin ʋɛ aɖewo koe dona (si woyɔna be beta-plus thalassemia ).

Beta thalassemia ƒomevi vevi ʋɛ aɖewo li:

• Beta thalassemia major (Cooley ƒe ʋusɔgbɔdɔ): Esiae nye beta thalassemia ƒomevi si nu sẽ wu. Le esia me la, beta-globin domenyiŋusẽfianu eveawo siaa bu alo gblẽ. Woyɔa beta thalassemia major fifia be "transfusion-dependent thalassemia" elabena amesiwo ŋu dɔléle sia le hiã ʋudodo le woƒe agbemeŋkekewo katã me.
• Beta thalassemia intermedia: Esia ate ŋu ana ʋusɔgbɔdɔ si nu mesẽ o va ɖo esi nu mesẽ o. Le nɔnɔme sia me la, beta-globin domenyiŋusẽfianu eveawo siaa bu alo gblẽ. Gake zi geɖe la, mehiã be amesiwo ŋu beta thalassemia intermedia le nado ʋu le woƒe agbemeŋkekewo katã me o.
• Beta thalassemia minor (si wogayɔna be beta thalassemia trait): Esia nye nɔnɔme si hea ʋusɔgbɔdɔ si nu mesẽna o vɛ zi geɖe. Beta-globin domenyiŋusẽfianu ɖeka koe bu alo gblẽ. Ðewohĩ dzesi aɖeke manɔ ame aɖewo siwo ŋu beta thalassemia minor le ŋu o.

Nukae nye beta thalassemia ƒe dzesiwo?

Wò dzesiwo anɔ te ɖe alesi wò beta thalassemia nu sẽe dzi. Le kpɔɖeŋu me, ame aɖe si ŋu beta thalassemia minor le ate ŋu anye esi me dzesi aɖeke mele o alo ʋusɔgbɔdɔ si nu mesẽ kura o ate ŋu anɔ eŋu. Ame siwo ŋu beta thalassemia intermedia kple vevietɔ beta thalassemia major le ate ŋu akpɔ dzesi siwo le titina alo esiwo nu sẽ wu.

Dzesi siwo mesẽ o

Zi geɖe la, beta thalassemia minor (beta thalassemia trait) do ƒome kple ʋusɔgbɔdɔ ƒe dzesi siwo nu mesẽ o abe:

• Ðeɖiteameŋu enuenu .
• Taɖuame alo gbɔdzɔgbɔdzɔ .
• Taɖuame enuenu .
• Ŋutilã si ƒe ŋutigbalẽ le ɣie .

Dzesi siwo sɔ kple esiwo nu sẽ

Dzesi siwo nu sẽ wu la do ƒome kple beta thalassemia major. Dzesi siawo dometɔ aɖewo, le alesi wò nɔnɔmea nu sẽe nu, ate ŋu anɔ amesiwo ŋu beta thalassemia intermedia le hã ŋu. Tsɔ kpe ɖe dzesi siwo nu mesẽ o ŋu la, àte ŋu akpɔe be:

• Yagbɔgbɔ sesẽ le kamedede me.
• Dzi ƒe tsotso ƒe dzidziɖedzi ( palpitations ).
• Ŋutilã ƒe ɣie alo ŋku ƒe ɣie ( jaundice ).
• Aɖuɖɔ si ƒe amadede nye viviti alo tii.
• Tsitsi blewu alo tsitsi si tsi megbe.
• Ƒodo ƒe ʋuʋu .
• Abɔ, afɔ, kple mo ƒe ƒuwo ƒe gbɔdzɔgbɔdzɔ alo woƒe gbegblẽ .

Vidzĩ sue siwo ŋu beta thalassemia le si sɔ alo esi nu sẽ ŋutɔ ate ŋu anye esiwo me dziɖeleameƒo mele o , eye woate ŋu axɔ dɔlékuiwo hã enuenu.

Aleke wowɔa dea dzesi beta thalassemia?

Zi geɖe la, wokpɔa beta thalassemia le ɖevime . Wokpɔa dɔléle si nu sẽ wu, si nye beta thalassemia major, hafi woxɔa ƒe 2, si fia be le ɖevimenɔɣi. Wò ɖɔkta anɔ te ɖe wò dzesiwo kple ʋudodokpɔ me tsonu dzi anya beta thalassemia.

Nukawoe nye dodokpɔ siwo wowɔna tsɔ dia dɔlélea?

Wò ɖɔkta akpɔ beta thalassemia ne eɖe ʋu bɔbɔe aɖe eye wòdzro eme. Dodokpɔwo ate ŋu anye:

• Ʋu Xexlẽme Blibo (CBC): CBC dodokpɔ naa nyatakaka tso wò ʋumenugbagbevi dzĩwo ŋu, eye wò ʋumenugbagbevi dzĩwo hã le eme. Ate ŋu aɖee afia ne ʋumenugbagbevi dzĩwo mesɔ gbɔ le asiwò o, ne wole sue wu alesi wòle, woƒe nɔnɔme to vovo, alo woƒe amadede nye aŋutiɖiɖi (dzẽ si me kɔ). Dzesi siawo ate ŋu anye thalassemia ƒe dzesiwo.
• Reticulocyte ƒe xexlẽme: Woyɔa ʋumenugbagbevi dzĩ siwo metsi o be reticulocytes. Reticulocyte ƒe xexlẽme si mede o fia be wò ŋutilã mele ʋumenugbagbevi dzĩwo wɔm wòsɔ gbɔ o. Gake le thalassemia major me la, zi geɖe la, reticulocyte ƒe xexlẽme dzina ɖe edzi. Esia le alea elabena wò ŋutilã le agbagba dzem be yeawɔ ʋumenugbagbevi dzĩ geɖe atsɔ axe fe ɖe ʋumenugbagbevi dzĩwo ƒe tsɔtsrɔ̃ ta kple hemoglobin si mesɔ o.
• Molekyulãwo ƒe domenyiŋusẽfianu dodokpɔ: Dodokpɔ sia na wò ɖɔkta te ŋu léa ŋku ɖe wò ʋumenugbagbeviɣidɔ ŋu nyuie eye wòdea dzesi domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ si do ƒome kple beta thalassemia.
• Hemoglobin electrophoresis: Dodokpɔ sia dzidzea hemoglobin protein ƒomevi vovovo siwo le wò ʋu me. Le beta thalassemia me la, hemoglobin protein ƒomevi aɖewo dzina ɖe edzi, eye bubuwo dzi ɖena kpɔtɔna.

Ne ɖikeke aɖe li be ɖewohĩ viwò si le dɔ me la nyi domenyiŋusẽfianu si gblẽ la ƒe dome la, wò ɖɔkta ate ŋu awɔ dodokpɔ aɖe si woyɔna be Chorionic Villus Sampling (CVS) alo Amniocentesis le fufɔɣi. CVS doa vidzidɔa ƒe akpa aɖe kpɔna be yeadi domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ ƒe dzesiwo. Vidzidɔe nye ŋutinu si kpena ɖe mia kple viwòa ŋu mieɖɔlia nunyiamewo le fufɔɣi. Amniocentesis doa tsi si ƒo xlã viwòa kpɔna be yeakpɔ beta thalassemia ƒe dzesiwo hã.

Aleke wodaa beta thalassemia?

Zi geɖe la, ahiã be nàwɔ dɔ kple belélenameha aɖe si me eŋutinunyala bibi vovovowo le. Ele vevie ŋutɔ be nàwɔ dɔ kple eŋutinunyala bibi aɖe si daa dɔléle siwo do ƒome kple ʋu, si nye ʋumenugbagbeviɣidɔŋutinunyala .

Atikewɔwɔ ƒe tiatia ate ŋu anye:

• Ʋudodo: Ðewohĩ ahiã be amesi ŋu beta thalassemia major le nado ʋu enuenu (ɖewohĩ kwasiɖa eve ɖesiaɖe). Le dɔ sia wɔwɔ me la, èxɔa ʋu tso ame aɖe si naa ʋu gbɔ. Ʋumenugbagbevi dzĩ siwo dona tso ʋudodo sia me kpena ɖe ame ŋu wòtsɔa ɔksidzin yia lãmeka siwo le ŋutilã bliboa me.
• Iron chelation therapy: Iron nye hemoglobin protein ƒe akpa vevi aɖe si kpena ɖe ame ŋu wòtsɔa oxygen. Ke hã, gayibɔ fũ ate ŋu agblẽ nu le ame ŋu. Iron chelation ƒe atikewɔwɔ ate ŋu axe mɔ ɖe iron ƒe agbɔsɔsɔ fũ nu.
• Folic acid kpeɖeŋutɔ: Folic acid ate ŋu akpe ɖe wò ŋutilã ŋu wòawɔ ʋumenugbagbevi dzĩwo. Ne beta thalassemia minor le ŋuwò la, wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàzã atike sia. Ne wò dɔlélea nu sẽ la, ahiã be nàno folic acid tsɔ kpe ɖe ʋudodo edziedzi ŋu.
• Luspatercept: Ne thalassemia major le ŋuwò la, woate ŋu ado atike si woyɔna be luspatercept wò kwasiɖa etɔ̃ ɖesiaɖe be wòakpe ɖe wò ŋutilã ŋu wòawɔ ʋumenugbagbevi dzĩ geɖe. Luspatercept kpena ɖe ʋusɔgbɔdɔ dzi kpɔtɔna le beta thalassemia dɔnɔ siwo naa ʋu me.
• Ƒumeŋuɖui kple lãmenugbagbeviwo dodo na ame:Àte ŋu axɔ ƒumeŋuɖui ƒe lãmenugbagbeviwo tso amesi na wò gbɔ. Lãmenugbagbevi siawoe va zua ʋumenugbagbevi dzĩwo emegbe. Woate ŋu ada beta thalassemia ne wotsɔ lãmenugbagbevi siwo tso nunala si le lãmesẽ me gbɔ ɖɔ li wò ƒumeŋuɖui ƒe lãmenugbagbeviwo. Gake nunala si sɔ kplii didi nye kuxi. Azɔ hã, wobua amedodo sia ƒomevi be enye dɔ si me afɔku le ŋutɔ.

Nukawoe nye atikewɔwɔa ƒe kuxiwo alo nugbegblẽ le ame ŋu?

Kuxi si bɔ wu le ʋudodo me enye iron ƒe agbɔsɔsɔ fũ . Ne èdo ʋu la, wò ŋutilã xɔa ʋumenugbagbevi dzĩwo kple iron bubuwo. Ne èdo ʋu enuenu la, iron sia si sɔ gbɔ ate ŋu aƒo ƒu eye wòagblẽ nu le ŋutinu veviwo abe aklã, dzi, kple dɔgbo ene ŋu. Ne ènye amesi doa ʋu enuenu la, ƒo nu kple wò ɖɔkta tso zi nenie wòle be nàno iron chelation therapy be wòaɖe iron si sɔ gbɔ ɖe wò ŋutilã me ɖa.

Aleke nàwɔ aɖe afɔku si le beta thalassemia xɔxɔ me dzi akpɔtɔ?

Màte ŋu aɖe domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ si do ƒome kple beta thalassemia ƒe domenyinyi ƒe afɔkua dzi akpɔtɔ o. Ke hã, àte ŋu axe mɔ na viwòa be wòaganyi eƒe dome o. Ne wò ŋutɔ alo wò zɔhɛa le afɔku me be domenyiŋusẽfianu ƒe dɔmawɔmawɔ nyuie sia tsɔla eye nèle mɔ kpɔm be yeadzi vi la, ƒo nu kple wò ɖɔkta tso beta thalassemia dodokpɔ na wò ŋu.

Ðe woate ŋu ada beta thalassemia?

Beta thalassemia ƒe atike ɖeka kolia si li fifiae nye ƒumeŋuɖui kple lãmenugbagbeviwo dodo na ame si wotsɔ na ame si sɔ kplii. Gake zi geɖe la, nunala si sɔ la didi sesẽna. Ðewohĩ womabu ƒomea me tɔwo gɔ̃ hã be wonye nunala siwo sɔ o.

Fifia numekulawo le nu srɔ̃m tso beta thalassemia ƒe atikewɔwɔ bubuwo ŋu, abe domenyiŋusẽfianu siwo gblẽ ɖɔliɖɔli kple esiwo le lãmesẽ me ( domenyiŋusẽfianu ƒe atikewɔwɔ ). Dɔ sia gakpɔtɔ le eƒe gɔmedzedze.

Nukae nye ame si ŋu beta thalassemia le ƒe agbenɔƒe?

Beta thalassemia nye dɔléle si woate ŋu ada . Amesiwo ŋu beta thalassemia ƒomevi siwo mesẽ o kple esiwo mesẽ o, abe minor kple intermedia ene, le ate ŋu akpɔ mɔ be yewoanɔ agbe si sɔ ne wowɔ ɖe woƒe ɖɔkta ƒe atikewɔwɔ ŋuti mɔfiamewo dzi. Gake beta thalassemia major ate ŋu ana woƒe agbenɔƒe nadidi. Nusi wua ame wu le nɔnɔme sia mee nye dzi ƒe dɔmawɔmawɔ nyuie si iron ƒe agbɔsɔsɔ fũ hena vɛ.

Ðo dze kple wò ɖɔkta tso wò ŋgɔdonya ŋu le alesi wò nɔnɔmea nu sẽe nu.

Nya kawoe wòle be mabia nye ɖɔkta?

Bia wò ɖɔkta zi nenie wòle be woado wò ʋu kpɔ ahawɔ atike na wò, kple agbenɔnɔ ƒe tɔtrɔ siwo wòle be nàwɔ atsɔ akpɔ wò nɔnɔmea gbɔe.

Nya aɖewo siwo nàte ŋu abia:

• Beta thalassemia ƒomevi ka ƒomevie le ŋunye?
• Atikewɔwɔ ka ƒomevie wòahiã be matsɔ akpɔ nye nɔnɔmea gbɔe?
• Aleke woate ŋu aɖe kuxi siwo ate ŋu ado tso atikewɔwɔ me dzi akpɔtɔ?
• Zi nenie wòle be mado ʋu kpɔ be woalé ŋku ɖe nye nɔnɔmea ŋu?
• Ʋudodokpɔ ka ƒomevie mawɔ?
• Agbenɔnɔ ƒe tɔtrɔ kawoe (e.g., nuɖuɖu, kamedede) si wòle be mawɔ be makpɔ nye nɔnɔmea gbɔ?
• Ðe menye ame si di be woado lãmenugbagbeviwo na amea?
• Mɔnukpɔkpɔ kawoe li be vinyewo hã naxɔ beta thalassemia?

Alesi nàkpɔ beta thalassemia la nɔ te ɖe alesi wò dɔlélea nu sẽe dzi. Eɖanye beta thalassemia ka ƒomevie o, ele vevie be nàwɔ dɔ kple eŋutinunyala bibi siwo bi ɖe thalassemia dɔléle didi kple edada me.

Atike nyuitɔ xɔxɔ ate ŋu axe mɔ ɖe ʋusɔgbɔdɔ nu eye wòaɖe kuxiwo abe iron ƒe agbɔsɔsɔ fũ ene ƒe afɔkua dzi akpɔtɔ.

Dɔwɔwɔ kple lãmesẽnyawo gbɔ kpɔha si léa ŋku ɖe wò nɔnɔmea ŋu nyuie eye wonaa belélename ƒe ɖoɖo si wowɔ ɖe ɖoɖo nu ate ŋu akpe ɖe ŋuwò nàna wò ŋgɔdonyawo nanyo ɖe edzi.

Mlɔeba la, nu siwo dzi wòle be woaɖo ŋkui

Beta Thalassemia menye nusi wòle be woavɔ̃ na o, gake enye dɔléle si ŋu wòle be woakpɔ nyuie . Ne dɔléle sia le ŋuwò alo ame aɖe si nènya la, ele vevie ŋutɔ be nàwɔ ɖe atikewɔlawo ƒe aɖaŋuɖoɖo nyuiwo dzi, awɔ dodokpɔ siwo hiã eye nàwɔ atike nɛ . Ðo ŋku edzi be menye wò ɖeka koe o, eye ɖɔktawo kple lãmesẽdɔwɔlawo hã li siwo ate ŋu akpe ɖe ŋuwò. Eya ta, mègavɔ̃ be yeaƒo nu kpli wo ne nya aɖe le asiwò o. Míele mɔ kpɔm be nyatakaka siawo akpe ɖe ŋuwò nànɔ agbe si me lãmesẽ le!

` Beta thalassemia, thalassemia, ʋusɔgbɔdɔ, hemoglobin, domenyiŋusẽfianu ƒe tɔtrɔ, ʋudodo, iron ƒe agbɔsɔsɔ fũ