Sigdcelleanemi
Sist oppdatert: Sist revidert:
Sist revidert av:Ingard Løge
Definisjon:
Autosomal recessiv arvelig tilstand med unormalt hemoglobin (HbS) som medfører normocytær hemolytisk anemi av varierende alvorlighetsgrad. Folatmangel, acidose, hypoksemi, dehydrering og infeksjon disponerer for sigdcellekrise
Forekomst:
Betydelig geografisk variasjon i forekomst, i ekvatorbeltet av Afrika er forekomsten av heterozygote bærere 10-30%. I Norge bor det noen få homozygote individer (under 100?)
Symptomer:
Ikterus, gallestein, hepatosplenomegali, dårlig sårtilheling, veksthemming hos barn. Anfall med vaso-okklusive kriser og iskemiske komplikasjoner
Funn:
Pasienten virker syk, hepatosplenomegali og sekvele etter vaso-okklusiv episode kan ofte påvises
Diagnostikk:
Laboratorieundersøkelser påviser hemolyse, reticulocytose og Hgb S ved elektroforese. Blodutstryket viser rikelig med sigdceller
Behandling:
Folat-substitusjon og blodtransfusjoner i forbindelse med aplastiske og hemolytiske kriser. God smertebehandling, rikelig hydrering og ev. oksygen. Utskiftingstransfusjon kan være nødvendig, og allogen stamcelletransplantasjon kan være aktuelt
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- Ingard Løge, spesialist allmennmedisin, redaktør NEL