So wo mogya mu nkwammoaa kɔkɔɔ no nso ‘yɛ kurukuruwa’? Momma yɛnka awosu mu spherocytosis ho asɛm!

Ɛtɔ da bi a nneɛma sisi wɔ yɛn nipadua mu a yennim mpo. So wo anaa obi a ɔwɔ w’abusua mu te nka sɛ wabrɛ bere nyinaa? Ebia wo honam ani reyɛ kɔkɔɔ kakra, anaasɛ ɛyɛ den ma wo kakra sɛ wobɛhome? Ɛtɔ mmere bi a eyinom betumi ayɛ tebea bi a ɛntaa nsi nanso ɛho hia a wɔfrɛ no Hereditary Spherocytosis , a yɛrebɛka ho asɛm nnɛ no ho sɛnkyerɛnne. Enti ma yɛnhwɛ nea eyi yɛ?

Dɛn ne Awosu mu Spherocytosis?

Sɛ yɛbɛka no tiawa a, eyi yɛ mogya mu yare a wonya fi awo mu . Nea ɛba ne sɛ yɛn mogya mu nkwammoaa kɔkɔɔ no sɛe ntɛmntɛm sen sɛnea ɛte daa. Eyi de tebea bi a wɔfrɛ no hemolytic anemia ba .

Afei hwɛ, yɛwɔ mogya mu nkwammoaa kɔkɔɔ wɔ yɛn nipadua mu. Eyinom ne nkwammoaa a ɛde mframa pa kɔ nipadua no mu nyinaa. Mpɛn pii no, mogya mu nkwammoaa kɔkɔɔ yi te sɛ diski, na wɔakotow akɔ mu wɔ afã abien no nyinaa, na ɛyɛ mmerɛw. Wɔte sɛ `donuts` nketewa, nanso wonni tokuru biara wɔ mfinimfini. Esiane sɛ wotumi dannan wɔn ho yi nti, wotumi piapia mogya ntini nketenkete mpo mu.

Nanso wɔ awosu mu spherocytosis tebea yi mu no, nea ɛba ne sɛ mogya mu nkwammoaa kɔkɔɔ yi nsusuwii sesa. Wɔhwere wɔn diski no na wɔbɛyɛ te sɛ bɔɔl nketewa, anaasɛ kurukuruwa . Yɛfrɛ saa nkwammoaa a ɛyɛ kurukuruwa yi sɛ spherocytes . Ɔhaw no ne sɛ, saa spherocytes yi ntumi nsakra saa. Wɔyɛ den kakra, enti sɛ wɔfa mogya ntini no mu, titiriw bere a ɛfa akyi berɛmo no mu a, ɛkyere na ɛbubu ntɛmntɛm. Woyi fi mogya no mu ntɛmntɛm sen mogya mu nkwammoaa kɔkɔɔ a ɛteɛ.

Hena na tebea yi ka no kɛse?

Wɔtaa hu saa yare yi wɔ nnipa a wofi Europa Atifi fam anaa Amerika Atifi fam nananom mu. Nanso, ebetumi aka obiara a ɔwɔ wiase. Sɛnea akontaabu kyerɛ no, nnuruyɛfo bu akontaa sɛ ebia nnipa 2,000 kosi 5,000 biara mu 1 na wɔwɔ saa yare yi.

Mpɛn pii no nnuruyɛfo hu yare yi wɔ nkokoaa anaa mmofraase . Mmofra binom fi ase da sɛnkyerɛnne ahorow adi bere a wɔadi fi mfe 3 kosi 8. Nanso nea ɛyɛ nwonwa no, nnipa binom nkyerɛ sɛnkyerɛnne biara kosi sɛ wobedi mfe 30 anaa 40. Ɛtɔ mmere bi a, sɛ akokoaa a wɔawo no foforo da sɛnkyerɛnne ahorow adi sɛ mogya atɔ no kɛse wɔ dapɛn biako mu wɔ awo akyi a, nnuruyɛfo susuw sɛ saa yare yi na wɔyɛ mogya mu nhwehwɛmu.

Ɔkwan bɛn so na awosu mu spherocytosis ka me nipadua?

Wɔ mogya a ɛtɔ kɔ nipadua mu (hemolytic anemia) a yɛadi kan aka ho asɛm no akyi no, nnipa pii a wɔwɔ saa yare yi betumi anya tebea afoforo pii:

• Splenomegaly: Yɛn ahurututu te sɛ afiri a wɔde yiyi mogya mu. Eyi mogya mu nkwammoaa kɔkɔɔ dedaw ne nea asɛe no fi hɔ. Enti, saa `spherocytes` a ɛyɛ kurukuruwa no kyekyere bere a wɔrebɔ mmɔden sɛ wɔbɛfa ntini nketenkete a ɛwɔ akyi berɛmo no mu no. Sɛ nkwammoaa a akyea no dodow kɔ soro a, akyi berɛmo no fi ase hohoro.
• Jaundice:Eyi ne bere a wo honam ani, w’ani fitaa (sclera), ne ntini a ɛwɔ wo mu no dan kɔkɔɔ. Sɛ mogya mu nkwammoaa kɔkɔɔ sɛe ntɛmntɛm dodo a, ade kɔkɔɔ bi a wɔfrɛ no bilirubin boaboa ano wɔ wo mogya mu. Jaundice ba bere a bilirubin yi dodow kɔ soro no.
• Akisikuru: Sɛ bilirubin dodow kɔ so yɛ kɛse a, akisikuru betumi ayɛ.

Dɛn ne mogya a ɛtɔ kɔ mogya mu a mogya mu nkwammoaa a ɛpaapae de ba no ho sɛnkyerɛnne?

Wɔ jaundice ne akyi berɛmo a ɛho ahonhon akyi no, ebia sɛnkyerɛnne afoforo pii wɔ hɔ:

• Ɔhome a ɛyɛ den (dyspnea): Eyi ba bere a mogya mu nkwammoaa kɔkɔɔ a ɛdɔɔso nni hɔ a ɛbɛfa mframa pa a nipadua no hia no.
• Ɔbrɛ: Ɔbrɛ a ɛtra so ho nkate a ɛma entumi nyɛ da biara da nnwuma.
• Koma a ɛbɔ ntɛmntɛm (tachycardia): Koma no fi ase bɔ ntɛmntɛm sen sɛnea ɛsɛ sɛ ɛyɛ. Sɛ eyi ba a, koma no nnya bere a ɛdɔɔso a ɛbɛma mogya ahyɛ mu ma, na ɛno ma mframa pa dodow a nipadua no hia no so tew.
• Hypotension: Mogya mmoroso a ɛba fam sen sɛnea wɔhwɛɛ kwan.

So obiara hyia saa tebea horow yi nyinaa?

Dabi, ɛnte saa. Nnuruyɛfo kyekyɛ tebea yi, Hereditary Spherocytosis, mu abiɛsa (ɛtɔ mmere bi a, ɔfã a ɛto so anan wɔ hɔ, moderate/ severe ), a egyina sɛnea sɛnkyerɛnne ahorow no te so.

• Ɛnyɛ den: Saa ɔfa yi ka ayarefoɔ 20% kɔsi 30% ho. Wɔwɔ mogya a ɛtɔ kɔ mogya mu a ɛma mogya tu. Nanso, sɛnkyerɛnne afoforo mpue kosi sɛ wobedi mfe 30 anaa 40.
• Mfinimfini: Ayarefo 60% kosi 75% na wɔhyɛ saa kuw yi mu. Nkokoaa ne mmofra nkumaa ka eyi ho. Ebia wɔwɔ mogya a ɛtɔ kɔ nipadua mu a ɛnyɛ den kosi nea ɛkɔ fam ne jaundice.
• Severe: This is the most severe form. Ayarefo bɛyɛ 5% na wɔhyɛ saa kuw yi mu. Nkokoaa a wɔawo wɔn foforo da mogya a ɛtɔ kɔ nipadua mu a emu yɛ den ho sɛnkyerɛnne adi wɔ dapɛn biako akyi wɔ awo akyi.

Dɛn nti na ɛte saa?

Sɛnea edin no kyerɛ no, eyi yɛ awosu mu tebea, a ɛkyerɛ sɛ efi awofo hɔ kɔ mmofra hɔ . Yɛn nyinaa nya awosu mu nkwaadɔm bi fi yɛn awofo hɔ. Sɛ nkwaadɔm mu nsakrae , anaa nsakrae bi ba saa awosu mu nkwaadɔm yi mu a, yebetumi de akɔma yɛn mma. Wɔ awosu mu spherocytosis mu no, awosu mu nkwaadɔm anum mu nsakrae na ɛde tebea no ba . Saa awosu mu nkwaadɔm yi kyerɛw protein ahorow a ɛka bom yɛ mogya mu nkwammoaa kɔkɔɔ no akyi abon no. (Sɛnea yare no mu yɛ den no gyina mutation ko a ɛba no so.)

Nnipa a wɔwɔ saa yareɛ yi mu bɛyɛ 75% nya no wɔ autosomal dominant kwan so. Eyi kyerɛ sɛ egye awosu mu nkwaadɔm biako pɛ a wɔayɛ no foforo fi ɔwofo biako hɔ na ama yare no aba. Abofra a ɔwofo bi a ɔwɔ awosu mu nkwaadɔm a wɔasakra no woo no no wɔ hokwan 50% sɛ obenya saa awosu mu abɔde no.

Afoforo nso nya no sɛ wonya awosu mu nkwaadɔm a wɔayɛ no foforo no biako fi awofo baanu no nyinaa hɔ a. Wɔfrɛ eyi sɛ autosomal recessive pattern. Wɔ eyi mu no, awofo no yɛ wɔn a wɔde yare no kɔ nkutoo na mpɛn pii no wɔnda sɛnkyerɛnne ahorow adi.

Sɛ nnipa mmienu a wɔde yareɛ no wo mma a, abofra biara wɔ hokwan 25% sɛ ɔbɛnya yareɛ no, 50% wɔ hokwan sɛ ɔbɛyɛ ɔyarefoɔ, na 25% wɔ hokwan sɛ ɛrenka no.

Sɛ awosu mu nkwaadɔm yi sesa a, dɛn na ɛba?

Yɛn nkwammoaa nyinaa wɔ nkwammoaa mu ntini bi . Eyi ne nea ɛtetew nkwammoaa no mu nneɛma ne nneɛma a atwa yɛn ho ahyia a ɛwɔ akyi no ho na ɛbɔ ho ban. Mogya mu nkwammoaa kɔkɔɔ no ntini no yɛ ntini teateaa bi a ɛwɔ akyi ne cytoskeleton a ɛwɔ mu, a protein ahorow a ɛka wɔn bom na ɛyɛ.

Ɛsɛ sɛ mogya mu nkwammoaa kɔkɔɔ kotow, kyinkyim, na ɛsakra ne nsusuwii. Saa na wobetumi apiapia mogya ntini nketenkete na wɔafa akyi berɛmo no mu. Susuw ho te sɛ nea yɛrebobɔ atade a ɛyɛ mmerɛw ayɛ no bag a ɛyɛ ma yiye. Mogya mu nkwammoaa kɔkɔɔ no betumi asesa ne nsusuwii bere a ɛho hia no, bere a ɛkɔ so kura ne diski soronko no mu no.

Wɔ awosu mu spherocytosis mu no, awosu mu nsakrae ka protein ahorow a ɛwɔ mogya mu nkwammoaa kɔkɔɔ no mu. Eyi sɛe abusuabɔ a ɛda cytoskeleton ne akyi ntini no ntam. Afei cytoskeleton no ntumi mfa mmoa mma akyi ntini no. Nea ɛde ba ne sɛ, mogya mu nkwammoaa kɔkɔɔ no sesa fi wɔn diski a ɛyɛ mmerɛw no mu ma ɛbɛyɛ ``sferocytes'' a ɛyɛ den, kurukuruwa.

Ɔkwan bɛn so na nnuruyɛfo hu yare yi?

Nnuruyɛfo na wohu yare yi denam wo ho sɛnkyerɛnne a wɔhwɛ, wo ne w’abusua aduruyɛ ho abakɔsɛm a wobisa, ne nhwehwɛmu pii a wɔyɛ so. Ebia sɔhwɛ ahorow yi bi ne:

• Mogya dodow a edi mũ (CBC): Eyi ma wunya wo mogya ne w’akwahosan nyinaa ho nsɛm.
• Peripheral blood smear: Eyi hwɛ sɛnea mogya mu nkwammoaa no kɛse ne sɛnea ɛte. Ebetumi nso ahwɛ sɛ spherocytes wɔ hɔ anaa.
• Reticulocyte dodow: Eyi hwɛ sɛ wo nnompe mu ntini no reyɛ mogya mu nkwammoaa kɔkɔɔ a ɛte apɔw a ɛdɔɔso anaa.
• Direct antiglobulin test (Direct antiglobulin - Coombs test): Eyi hwɛ sɛ mogya a ɛkɔ mogya mu a ɛma nipadua no tumi ko tia nyarewa anaa.
• Bilirubin dodow: Mogya mu nhwehwɛmu a wɔde hwɛ sɛ bilirubin dodow a ɛwɔ mogya no mu no dɔɔso anaa.
• ‍ (Red cell osmotic fragility): .
• Plasma membrane electrophoresis: Eyi yɛ ɔkwan titiriw bi a wɔde anyinam ahoɔden tumi yi DNA, RNA, anaa protein ahorow fi gel anaa nsu mu. Ɛhwɛ protein a ɛwɔ mogya mu nkwammoaa kɔkɔɔ no mu a ɛwɔ mutation no.

Ɔkwan bɛn so na wɔsa eyi?

Ɛsono ayaresa a wobetumi apaw a egyina sɛnkyerɛnne ahorow no so. Sɛ nhwɛso no, wobetumi ama abofra a wɔawo no foforo a mogya atɔ no kɛse no mogya ne/anaasɛ nnuru a ɛkanyan erythropoietin (ESA) bere a wɔahu tebea no ara pɛ. ESA yɛ nnuru a ɛkanyan mogya mu nkwammoaa kɔkɔɔ a wɔyɛ.

Ayaresa afoforo a wobetumi apaw ne:

• Phototherapy: Ayaresa a emu nyɛ duru a wɔde sa nkokoaa a wɔawo wɔn foforo no jaundice.
• Mogya a wɔde ma: Wɔde mogya ma sɛ aduru a wɔde sa mogya a ɛtɔ kɔ nipadua mu.
• Splenectomy: Wɔyɛ oprehyɛn yi akyi berɛmo no sɛ ayaresa a wɔde sa tebea horow a emu yɛ den.
• Cholecystectomy: Wɔyɛ oprehyɛn yi sɛ aduru a wɔde sa akisikuru mu abo.
• Iron chelation therapy: Mogya a wɔtaa ma no betumi ama iron a ɛboro so ayɛ kɛse wɔ nipadua no mu (hemochromatosis) . Wɔde saa aduru yi yi dade a ɛboro so yi fi hɔ.

So wobetumi asiw awosu mu spherocytosis ano?

Sɛ obi wɔ w’abusua mu wɔ saa yare yi, kyerɛ sɛ, sɛ awosu mu abakɔsɛm bi wɔ hɔ a, ɛyɛ den sɛ wubesiw ano. Efisɛ ɛyɛ biribi a efi awosu mu nneɛma mu. Nanso ade a ɛho hia sen biara a ɛsɛ sɛ wokae ne sɛ esiane sɛ obi wɔ w’abusua mu nti, ɛnkyerɛ sɛ akyinnye biara nni ho sɛ wo anaa wo mma benya saa yare yi.

Sɛ nhwɛso no, sɛ wunya awosu mu abɔde a wɔayɛ no foforo fi w’awofo no mu biako hɔ a, wowɔ hokwan 50% sɛ wubenya yare no. Sɛ wunya awosu mu abɔde a wɔayɛ no foforo no fi awofo baanu no nyinaa hɔ a, wowɔ hokwan 25% sɛ wubenya yare no. Afei nso, 50% wɔ hɔ sɛ wobɛyɛ obi a ɔkura yareɛ no na worenkyerɛ yareɛ no ho sɛnkyerɛnne biara.

Sɛ wowɔ asɛm bi a ɛhaw wo anaa ɛhaw wo wɔ eyi ho a, wubetumi ne wo anaa wo ba duruyɛfo akasa afa nhwehwɛmu a wɔbɛyɛ wɔ awosu mu spherocytosis ho. Nea ebefi mu aba no bɛboa wo ma woahu sɛ ebia wo anaa wo ba no anya awosu mu nsakrae no afi awo mu anaa. Afei wubetumi anya nea wobɛhwɛ kwan ho adwene.

Wo duruyɛfo bɛkyerɛkyerɛ nea nhwehwɛmu no mu aba kyerɛ, sɛ ebia yare no nyɛ den, ɛyɛ mmerɛw, anaa emu yɛ den, tebea horow a ebetumi aba daakye, ne nea ɛyɛ ne sɛnkyerɛnne ahorow a edi kan no mu akyerɛ wo.

Sɛ me/me ba wɔ saa tebea yi a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Nnipa dodow no ara a wɔwɔ awosu mu spherocytosis no wɔ nkɔmhyɛ pa . Nanso, ɛnyɛ obiara na ɔyɛ pɛ. Wo anaa wo ba no nkɔmhyɛ gyina nneɛma te sɛ sɛnea yare no mu yɛ den, sɛ ebia wowɔ akwahosan ho haw afoforo, ne w’akwahosan nyinaa so.

Me ba no wɔ awosu mu spherocytosis. Mɛyɛ dɛn ahwɛ no?

Nsrahwɛ a wɔde di mmofra a wɔwɔ saa yare yi akyi daaEyi yɛ nea wɔde bɛhwɛ wɔn akwahosan nyinaa na wɔahwɛ sɛ ebia sɛnkyerɛnne foforo te sɛ mogya a ɛtɔ kɔ nipadua mu anaa abo a ɛwɔ akisikuru mu anaa. Sɛ wo ba hia mogya a wɔtaa ma a, nnuruyɛfo betumi akamfo akyerɛ sɛ wɔmfa nnuru a wɔde bɔ hepatitis B mmoawa no ho ban . Ebia wobetu wo fo nso wɔ anammɔn a wubetumi ayɛ de abɔ wo ba ho ban afi ɔyare mmoawa te sɛ parvovirus B19 , a ebetumi de akwahosan ho haw a emu yɛ den aba mpofirim ho.

Awosu mu spherocytosis yɛ mogya mu yare a ɛntaa nsi a wonya fi awo mu a ɛhwehwɛ sɛ wɔhwɛ wɔn nkwa nna nyinaa . Nnuruyɛfo betumi asa akwahosan ho nsɛm a ɛtɔ mmere bi a emu yɛ den a yare no de ba no. Nanso, aduru biara nni hɔ a wɔde sa mogya mu yare yi.

Awiei koraa no, ɛsɛ sɛ meka sɛ... (Take-Home Message)

Yare a enni sabea a wobɛtra ase, anaasɛ obi a ɔwɔ bi a wobɛhwɛ no nyɛ mmerɛw bere nyinaa. Na ebetumi ayɛ den kɛse mpo bere a wo ne tebea bi a nnipa pii nnim anaasɛ wɔntee ho asɛm mpo te no. Sɛ wo anaa wo ba wɔ awosu mu spherocytosis a, ebia wobɛte nka sɛ woayɛ basaa, wo nkutoo na wowɔ hɔ, na wunni obiara a wobɛkɔ ne nkyɛn akɔhwehwɛ mmoa.

Nha wo ho. Wo ne wo duruyɛfo nkasa. Wɔbɛyɛ nea wobetumi biara de aboa wo ne wo ba no. Wɔn ani begye sɛ wobebua wo nsɛmmisa. Kae sɛ ɛnyɛ wo nkutoo na woretu kwan yi. Wubetumi anya mmoa ne nsɛm a wuhia.

Mewɔ anidaso sɛ saa nsɛm yi ho bɛba wo mfaso. Kɔ so nya apɔwmuden!

` Awosu mu spherocytosis, mogya mu nkwammoaa kɔkɔɔ, mogya a ɛtɔ kɔ nipadua mu, akyi berɛmo, awosu mu nyarewa, awosu mu nkwaadɔm, mogya mu nyarewa, jaundice, gallstones