So wunim Beta Thalassemia ho asɛm? Momma yɛnka ho asɛm tiawa!

So woate yare a wɔfrɛ no ‘thalassemia’ ho asɛm pɛn? Ebia obi a ɔwɔ w’abusua mu anaa w’adamfo bi wɔ saa tebea yi. Eyi yɛ yare a ɛne yɛn mogya wɔ abusuabɔ ankasa. Ɛnnɛ yɛrebɛka thalassemia ahorow atitiriw no mu biako ho asɛm , Beta Thalassemia . Ɛwom sɛ ebia edin yi bɛyɛ te sɛ nea ɛyɛ den kakra de, nanso yɛbɛka ho asɛm tiawa, wɔ ɔkwan a wubetumi ate ase so.

Dɛn ne Beta Thalassemia?

Sɛ yɛbɛka no tiawa a, beta thalassemia yɛ mogya mu yare a yɛn nipadua ntumi nyɛ hemoglobin yiye . Afei ebia worebisa sɛ, "Dɛn ne hemoglobin?" Hemoglobin yɛ protein a ɛwɔ yɛn mogya mu nkwammoaa kɔkɔɔ mu a iron pii wom. Nokwarem no, ɛno ne ade titiriw a ɛwɔ mogya mu nkwammoaa kɔkɔɔ mu.

Susuw ho saa kwan yi so: hemoglobin te sɛ kar bi a ɛboa yɛn mogya mu nkwammoaa kɔkɔɔ ma ɛde mframa pa kɔ. Saa mogya mu nkwammoaa kɔkɔɔ yi de mframa pa kɔ nkwammoaa ne ntini afoforo mu wɔ nipadua no nyinaa mu. Enti, yɛn nkwammoaa no de oxygen yi yɛ ahoɔden.

Beta thalassemia yɛ thalassemia ahorow atitiriw abien no mu biako. Wɔ eyi mu no, nsakrae bi (awosu mu nkwaadɔm mu nsakrae), kyerɛ sɛ, mfomso ketewaa bi, wɔ awosu mu nkwaadɔm a ɛwɔ yɛn hemoglobin protein mu no mu. Esiane saa awosu mu mfomso yi nti, yɛn nipadua no ntumi nyɛ beta-globin protein a ɛwɔ hemoglobin mu no yiye.

Ɔkwan bɛn so na beta thalassemia ka me nipadua?

Sɛ beta-globin a yɛn nipadua no yɛ no so tew a, yɛn mogya mu nkwammoaa kɔkɔɔ no sɛe. Afei woyi mogya mu nkwammoaa kɔkɔɔ a asɛe yi fi mogya no mu ntɛm ara. Afei susuw ho hwɛ, sɛ wontumi nyɛ mogya mu nkwammoaa kɔkɔɔ foforo mfa nsi nea ayera no ananmu a, dɛn na ɛbɛba? Ɛno na mogya a ɛtɔ kɔ nipadua mu , anaa mogya a enni nipadua no mu ba.

mogya a ɛtɔ kɔ nipadua mu ho sɛnkyerɛnne ba bere a yenni mogya mu nkwammoaa kɔkɔɔ a ɛdɔɔso a ɛbɛma oxygen akɔ yɛn nipadua mu ntini ahorow mu no. Afei saa ntini ahorow no nnya mframa pa a ɛdɔɔso. Mogya a ɛtɔ kɔ nipadua mu ho sɛnkyerɛnne a ɛde beta thalassemia ba no betumi afi nea emu nyɛ den so kosi nea emu yɛ den so , a egyina sɛnea wo mogya mu nkwammoaa kɔkɔɔ dodow sua so.

Hena na ɔwɔ asiane kɛse sɛ obenya beta thalassemia?

Beta thalassemia yɛ awosu mu yare a wonya fi awo mu . Eyi kyerɛ sɛ mmofra nya awosu mu sintɔ a ɛfa yare yi ho no fi wɔn awofo hɔ. Nnipa dodow no ara a wɔwɔ beta thalassemia te aman te sɛ Afrika, Mediterranea mantam, Mfinimfini Apuei, India ne Asia Kesee Fam Apuei. Nanso, esiane atutra a ɛkɔ wiase nyinaa nti, mprempren wɔrebɔ ayarefo a wɔwɔ beta thalassemia nso amanneɛ wɔ Europa Atifi fam ne Amerika Atifi fam. Wohu saa yare yi wɔ yɛn man Sri Lanka nso.

Beta thalassemia abu so dɛn?

So wunim sɛ thalassemia ne ade titiriw a ɛde mogya a ɛtɔ kɔ nipadua mu a wonya fi awo mu ba? Wohu ayarefo foforo mpempem pii a wɔwɔ beta thalassemia afe biara. Nanso asɛmpa no ne sɛ esiane sɛ wɔanya nkɔso wɔ akwan a wɔfa so siw ano te sɛ nhwehwɛmu a wɔyɛ de hu nnipa a wɔwɔ thalassemia awosu mu abɔde mu dɛmdi no mu nti, nnipa dodow so atew akodu baabi .

Dɛn na ɛde beta thalassemia ba?

Nea ɛde beta thalassemia ba titiriw ne awosu mu sintɔ (mutation) a ɛmma beta-globin ntumi nyɛ wɔ yɛn nipadua mu. Sɛnea yɛaka dedaw no, protein nkɔnsɔnkɔnsɔn anan na ɛka bom yɛ hemoglobin: alpha-globin nkɔnsɔnkɔnsɔn abien ne beta-globin nkɔnsɔnkɔnsɔn abien. Mfomso ahorow a ɛwɔ alpha-globin nkɔnsɔnkɔnsɔn no mu no ma alpha thalassemia ba, na sintɔ ahorow a ɛwɔ beta-globin nkɔnsɔnkɔnsɔn no mu no de beta thalassemia ba. Sɛ globin nkɔnsɔnkɔnsɔn yi mu biara nni hɔ a, mogya mu nkwammoaa kɔkɔɔ no sɛe na ɛsɛe.

Wonya awosu mu abɔde mu sintɔ a ɛma beta thalassemia no wɔ autosomal recessive nhyehyɛe mu . Eyi ba bere a awofo a wɔwoo wɔn baanu no nyinaa kura awosu mu abɔde a asɛe no biako ne awosu mu abɔde a ɛteɛ no biako. Wɔ beta thalassemia a emu yɛ den sen biara mu no, wunya awosu mu abɔde a asɛe no bi fi awofo baanu no nyinaa hɔ.

Nanso, ɛntaa mma koraa sɛ beta-globin awosu mu abɔde biako pɛ a asɛe a wonya fi awo mu no betumi de beta thalassemia aba. Wɔfrɛ eyi sɛ autosomal dominant pattern .

Dɛn ne beta thalassemia ahorow?

Sɛnea wo tebea no mu yɛ den no gyina awosu mu nkwaadɔm a ɛtɔ sin dodow a wunya ne beae a sintɔ no wɔ so. Awosu mu nkwaadɔm mu sintɔ ahorow bi mma wɔnyɛ beta-globin biara koraa (a wɔfrɛ no beta-zero thalassemia ). Mfomso afoforo ma beta-globin kakraa bi pɛ na ɛba (a wɔfrɛ no beta-plus thalassemia ).

Beta thalassemia ahorow atitiriw kakraa bi na ɛwɔ hɔ:

• Beta thalassemia major (Cooley mogya a ɛtɔ kɔ nipadua mu): Eyi ne beta thalassemia a emu yɛ den sen biara. Wɔ eyi mu no, beta-globin awosu mu nkwaadɔm abien no nyinaa nni hɔ anaasɛ ɛtɔ sin. Mprempren wɔfrɛ beta thalassemia major "thalassemia a egyina mogya a wɔde ma so" efisɛ nnipa a wɔwɔ saa tebea yi hia mogya a wɔde ma wɔn nkwa nna nyinaa.
• Beta thalassemia intermedia: Eyi betumi ama mogya atɔ mogya a ɛnyɛ den kosi nea ɛkɔ fam. Wɔ tebea yi mu no, beta-globin awosu mu nkwaadɔm abien no nyinaa nni hɔ anaasɛ enni dɛm. Nanso, mpɛn pii no, ɛho nhia sɛ nnipa a wɔwɔ beta thalassemia intermedia de mogya ma wɔn nkwa nna nyinaa.
• Beta thalassemia minor (anaasɛ beta thalassemia su): Eyi taa de mogya a ɛtɔ kɔ nipadua mu ho sɛnkyerɛnne a emu nyɛ den ba. Wɔ eyi mu no, beta-globin awosu mu abɔde biako pɛ na enni hɔ anaasɛ ɛnteɛ. Ebia nnipa binom a wɔwɔ beta thalassemia minor no renkyerɛ yare no ho sɛnkyerɛnne biara.

Dɛn ne beta thalassemia ho sɛnkyerɛnne ahorow?

Wo sɛnkyerɛnne ahorow no begyina sɛnea wo beta thalassemia no mu yɛ den no so. Sɛ nhwɛso no, ebia obi a ɔwɔ beta thalassemia minor no nni sɛnkyerɛnne biara anaasɛ ebia mogya a ɛtɔ kɔ nipadua no mu no nyɛ den koraa. Nnipa a wɔwɔ beta thalassemia intermedia ne titiriw no beta thalassemia major betumi anya yare no ho sɛnkyerɛnne a ɛkɔ fam anaasɛ emu yɛ den kɛse.

Nsɛnkyerɛnne a emu nyɛ den

Beta thalassemia minor (beta thalassemia su) taa ne mogya a ɛtɔ kɔ nipadua mu ho sɛnkyerɛnne a emu nyɛ den te sɛ:

• Ɔbrɛ a ɛtaa ba .
• Adwene a ɛyɛ basaa anaa mmerɛwyɛ .
• Ti a ɛtaa yɛ no yaw .
• Wora a ɛyɛ mmerɛw .

Nsɛnkyerɛnne a ɛkɔ fam na emu yɛ den

Nsɛnkyerɛnne a emu yɛ den sen biara no ne beta thalassemia major wɔ abusuabɔ. Saa sɛnkyerɛnne ahorow yi bi, a egyina sɛnea wo tebea no mu yɛ den so no, betumi aba nnipa a wɔwɔ beta thalassemia intermedia nso mu. Wɔ sɛnkyerɛnne ahorow a emu nyɛ den akyi no, ebia wubenya:

• Ɔhome a ɛyɛ den bere a wɔreyɛ apɔw-mu-teɛteɛ.
• Koma a ɛbɔ a ɛkɔ soro ( palpitations ).
• Wora a ɛyɛ kɔkɔɔ anaa aniwa fitaa ( jaundice ).
• Nsu a ɛyɛ tuntum anaa ɛyɛ tii.
• Nnyin a ɛkɔ brɛoo anaasɛ nkɔso a ɛkyɛ.
• Yafunu mu a ɛyɛ hyew .
• Nsa, nan, ne anim nnompe a ɛyɛ mmerɛw anaasɛ ɛyɛ dɛm .

Nkokoaa nkumaa a beta thalassemia a ɛkɔ fam anaa emu yɛ den no betumi ayɛ wɔn a wɔn ho adwo wɔn titiriw , na wobetumi nso anya nyarewa mpɛn pii.

Ɔkwan bɛn so na wohu sɛ obi anya beta thalassemia?

Wɔtaa hu sɛ obi anya beta thalassemia wɔ mmofraase . Wohu ɔkwan a emu yɛ den sen biara, beta thalassemia major, ansa na wɔadi mfe 2, a ɛkyerɛ sɛ wɔyɛ mmofraase. Wo duruyɛfo no begyina wo yare no ho sɛnkyerɛnne ne nea efii wo mogya mu nhwehwɛmu mu so ahu sɛ wowɔ beta thalassemia.

Dɛn ne nhwehwɛmu ahorow a wɔde hu yare no?

Wo duruyɛfo no behu beta thalassemia denam mogya a ɛnyɛ den a obegye na wayɛ mu nhwehwɛmu no so. Ebia sɔhwɛ ahorow no bi ne:

• Mogya Dodow a Edi Mu (CBC): CBC nhwehwɛmu ma wo mogya mu nkwammoaa ho nsɛm, a wo mogya mu nkwammoaa kɔkɔɔ ka ho. Ebetumi akyerɛ sɛ wowɔ mogya mu nkwammoaa kɔkɔɔ dodow a ɛba fam, sɛ ɛyɛ nketewa sen sɛnea ɛte daa, ɛyɛ nwonwa, anaasɛ ɛyɛ mmerɛw (kɔkɔɔ a ɛyɛ hann). Saa sɛnkyerɛnne ahorow yi betumi ayɛ thalassemia ho sɛnkyerɛnne.
• Reticulocyte dodow: Wɔfrɛ mogya mu nkwammoaa kɔkɔɔ a ennyinii no reticulocytes. Reticulocyte dodow a ɛba fam kyerɛ sɛ wo nipadua no ntumi nyɛ mogya mu nkwammoaa kɔkɔɔ a ɛdɔɔso. Nanso, wɔ thalassemia major mu no, mpɛn pii no, reticulocyte dodow kɔ soro. Nea enti a ɛte saa ne sɛ wo nipadua no rebɔ mmɔden sɛ ɛbɛyɛ mogya mu nkwammoaa kɔkɔɔ pii de atua mogya mu nkwammoaa kɔkɔɔ a wɔsɛe no no ho ka denam hemoglobin a ɛnteɛ so.
• Molekyule awosu mu nhwehwɛmu: Saa nhwehwɛmu yi ma wo duruyɛfo tumi hwehwɛ wo hemoglobin mu yiye na ohu awosu mu sintɔ a ɛbata beta thalassemia ho.
• Hemoglobin electrophoresis: Saa nhwehwɛmu yi susuw hemoglobin protein ahorow a ɛwɔ wo mogya mu no. Wɔ beta thalassemia mu no, hemoglobin protein ahorow bi kɔ soro, bere a afoforo nso so tew.

Sɛ adwenem naayɛ bi wɔ hɔ sɛ ebia wo ba a ɔhyɛ yafunu mu no nyaa awosu mu abɔde a ɛtɔ sin no fii awo mu a, wo duruyɛfo betumi ayɛ nhwehwɛmu bi a wɔfrɛ no Chorionic Villus Sampling (CVS) anaa Amniocentesis bere a wanyinsɛn. CVS yɛ awotwaa no fã bi mu nhwehwɛmu de hwehwɛ awosu mu dɛmdi no ho sɛnkyerɛnne. Awotwaa ne akwaa a ɛboa wo ne wo ba no ma mosesa aduannuru bere a monyinsɛn no. Amniocentesis hwehwɛ nsu a atwa wo ba no ho ahyia no mu hwɛ de hwehwɛ beta thalassemia ho sɛnkyerɛnne.

Ɔkwan bɛn so na wɔsa beta thalassemia?

Mpɛn pii no, ɛsɛ sɛ wo ne kuw bi a wɔhwɛ wɔn a nnuruyɛfo atitiriw ahorow ka ho yɛ adwuma. Ɛho hia titiriw sɛ wo ne oduruyɛfo titiriw bi a ɔsa nyarewa a efi mogya mu, mogya ho ɔbenfo yɛ adwuma .

Ebia ayaresa a wobetumi apaw bi ne:

• Mogya a wɔde ma: Ebia ebehia sɛ obi a ɔwɔ beta thalassemia major no taa de mogya ma (ebia adapɛn abien biara). Wɔ saa adeyɛ yi mu no, wunya mogya fi obi a ɔde mogya ma wo hɔ. Mogya mu nkwammoaa kɔkɔɔ a efi mogya a wɔde ma yi mu no boa ma ɛde mframa pa kɔ ntini ahorow a ɛwɔ nipadua no mu nyinaa mu.
• Iron chelation therapy: Iron yɛ hemoglobin protein no fã titiriw a ɛboa ma oxygen kɔ. Nanso, dade pii betumi apira. Iron chelation ayaresa betumi asiw dade a ɛboro so ano.
• Folic acid a wɔde ka ho: Folic acid betumi aboa wo nipadua ma ayɛ mogya mu nkwammoaa kɔkɔɔ. Sɛ wowɔ beta thalassemia minor a, ebia wo duruyɛfo bɛkamfo saa aduru yi akyerɛ wo. Sɛ wo tebea no mu yɛ den a, ebia ebehia sɛ wonom folic acid de ka mogya a wode ma daa no ho.
• Luspatercept: Sɛ wowɔ thalassemia major a, wobetumi ama wo aduru bi a wɔfrɛ no luspatercept adapɛn abiɛsa biara na aboa wo nipadua no ma ayɛ mogya mu nkwammoaa kɔkɔɔ pii. Luspatercept boa ma mogya a ɛtɔ kɔ nipadua mu no so tew wɔ beta thalassemia ayarefo a wɔde mogya ma no mu.
• Nnompe mu ntini ne ntini mu nkwammoaa a wɔde si ananmu:Wubetumi anya nnompe mu ntini mu nkwammoaa afi obi a ɔde ma no hɔ. Saa ntini mu nkwammoaa yi ne nea akyiri yi ɛbɛyɛ mogya mu nkwammoaa kɔkɔɔ. Wobetumi asa beta thalassemia denam ntini mu nkwammoaa a efi obi a ɔwɔ apɔwmuden a ɔde mae hɔ besi wo nnompe mu ntini mu nkwammoaa ananmu no so. Nanso, obi a ɔne no bɛboa no a wobenya no yɛ asɛnnennen. Afei nso, wobu nipadua foforo a wɔde ma yi sɛ adeyɛ a asiane kɛse wom.

Dɛn ne nsɛnnennen anaa nsunsuanso bɔne a efi ayaresa no mu ba?

Ɔhaw a ɛtaa ba wɔ mogya a wɔde ma mu ne dade a ɛboro so . Sɛ wode mogya ma a, wo nipadua no nya mogya mu nkwammoaa kɔkɔɔ ne dade foforo. Sɛ wode mogya ma mpɛn pii a, saa dade a ɛboro so yi betumi ayɛ kɛse na asɛe akwaa a ɛho hia te sɛ mmerɛbo, koma, ne dwensɔtwaa. Sɛ wotaa de mogya ma a, wo ne wo duruyɛfo nkasa mpɛn dodow a ɛsɛ sɛ wofa iron chelation therapy na ama woayi iron a ɛboro so afi wo nipadua mu no ho asɛm.

Wobɛyɛ dɛn atumi atew asiane a ɛwɔ hɔ sɛ wubenya beta thalassemia no so?

Worentumi ntew asiane a ɛwɔ hɔ sɛ wubenya awosu mu nkwaadɔm mu sintɔ bi a ɛne beta thalassemia wɔ abusuabɔ no so. Nanso, wubetumi asiw wo ba no kwan sɛ obenya bi. Sɛ wo anaa wo hokafo no wɔ asiane mu sɛ wobɛyɛ obi a ɔwɔ saa awosu mu dɛmdi yi na wowɔ anidaso sɛ wobɛwo ba a, wo ne wo duruyɛfo nkasa mfa nhwehwɛmu a wɔbɛyɛ wɔ beta thalassemia ho.

So wobetumi asa beta thalassemia?

Mprempren aduru biako pɛ a wɔde sa beta thalassemia ne nnompe mu ntini ne ntini mu nkwammoaa a wɔde bɛma obi foforo a ɔne no yɛ pɛ. Nanso, mpɛn pii no, ɛyɛ den sɛ wobenya obi a ɔne no bɛma no. Ebia wɔremmu abusua mufo mpo sɛ wɔn a wɔfata sɛ wɔde mmoa ma.

Mprempren nhwehwɛmufo reyɛ ayaresa afoforo a wɔde sa beta thalassemia ho ade, te sɛ awosu mu nkwaadɔm a asɛe a wɔde besi apɔwmuden ananmu ( gene therapy ). Saa adwuma yi da so ara wɔ ne mfiase.

Obi a ɔwɔ beta thalassemia nkwa nna yɛ dɛn?

Beta thalassemia yɛ yare a wotumi sa . Nnipa a wɔwɔ beta thalassemia a emu nyɛ den ne nea ɛkɔ fam, te sɛ minor ne intermedia, betumi ahwɛ kwan sɛ wobenya nkwa nna a ɛfata sɛ wodi wɔn duruyɛfo ayaresa akwankyerɛ akyi a. Nanso, beta thalassemia major betumi ama wɔn nkwa nna ayɛ tiaa. Nea ɛtaa ma obi wuwu wɔ tebea yi mu ne komayare a dade a ɛboro so de ba.

Wo ne wo duruyɛfo nka wo nkɔmhyɛ ho asɛm a egyina sɛnea wo tebea no mu yɛ den so.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Bisa wo duruyɛfo mpɛn dodow a ɛsɛ sɛ woyɛ mogya mu nhwehwɛmu ne ayaresa, ne asetra mu nsakrae a ɛsɛ sɛ woyɛ na ama woadi wo tebea no ho dwuma.

Nsɛmmisa bi a wubetumi abisa:

• Beta thalassemia bɛn na mewɔ?
• Ayaresa bɛn na ebehia na ama madi me tebea no ho dwuma?
• Ɔkwan bɛn so na wobetumi atew asiane a ɛwɔ nsɛnnennen a efi ayaresa mu ba no so?
• Mpɛn ahe na ɛsɛ sɛ meyɛ mogya mu nhwehwɛmu de hwɛ sɛnea me tebea te?
• Mogya mu nhwehwɛmu bɛn na mɛyɛ?
• Nsakrae bɛn na meyɛ wɔ asetra mu (sɛ nhwɛso no, aduan, apɔw-mu-teɛteɛ) a ɛsɛ sɛ meyɛ na ama madi me tebea no ho dwuma?
• So meyɛ obi a ɔpɛ sɛ wɔde stem cell bɛma obi foforo?
• Hokwan bɛn na ɛwɔ hɔ sɛ me mma nso benya beta thalassemia?

Sɛnea wunya beta thalassemia no gyina sɛnea wo tebea no mu yɛ den no so. Ɛmfa ho sɛnea beta thalassemia te no, ɛho hia sɛ wo ne nnuruyɛfo atitiriw a wɔn ho akokwaw wɔ thalassemia a wohu na wɔsa mu yɛ adwuma.

Ayaresa a ɛfata a wobenya no betumi asiw mogya a ɛtɔ kɔ nipadua mu ano na ɛtew asiane a ɛwɔ hɔ sɛ nsɛnnennen te sɛ dade a ɛboro so bɛba no so.

Sɛ wo ne akwahosan ho kuw bi a wɔhwɛ wo tebea no so yiye na wɔde ɔhwɛ nhyehyɛe a wɔayɛ ama wo ma a, ebetumi aboa ma wo nkɔmhyɛ atu mpɔn.

Nea etwa to no, nneɛma a ɛsɛ sɛ yɛkae

Beta Thalassemia nyɛ biribi a ɛsɛ sɛ wosuro, nanso ɛyɛ tebea a ɛsɛ sɛ wodi ho dwuma yiye . Sɛ wo anaa obi a wunim no wɔ saa tebea yi a, ɛho hia yiye sɛ wudi aduruyɛ mu afotu a ɛfata akyi, yɛ nhwehwɛmu ne ayaresa a ɛho hia . Kae sɛ ɛnyɛ wo nkutoo na wowɔ hɔ, na nnuruyɛfo ne akwahosan ho adwumayɛfo wɔ hɔ a wobetumi aboa wo. Enti, sɛ wowɔ nsɛmmisa bi a, nsuro sɛ wo ne wɔn bɛkasa. Yɛwɔ anidaso sɛ saa nsɛm yi bɛboa wo ma woanya asetra a ahoɔden wom!

` Beta thalassemia, thalassemia, mogya a ɛtɔ kɔ nipadua mu, hemoglobin, awosu mu nsakrae, mogya a wɔde ma, dade a ɛboro so