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Anemia emolitica

 

Che cos’è l’anemia emolitica?

L’anemia emolitica è una condizione medica in cui il corpo distrugge prematuramente un numero eccessivo di globuli rossi, portando a una diminuzione della quantità di ossigeno trasportato nel sangue e quindi a una diminuzione dei livelli di energia. Ci sono diversi tipi di anemia emolitica, tra cui l’anemia emolitica autoimmune, in cui il sistema immunitario attacca i globuli rossi, e l‘anemia emolitca ereditaria in cui le mutazioni genetiche portano a una maggiore distruzione dei globuli rossi. Le cause dell’anemia emolitica possono variare da infezioni virali a farmaci a tossicità da sostanze chimiche, e il trattamento dipenderà dalla causa sottostante.



Tipi di anemia emolitica

Ci sono diversi tipi di anemia emolitica, tra cui:

1. Anemia emolitica autoimmune: in questo tipo di anemia, il sistema immunitario attacca e distrugge i globuli rossi.

2. Anemia emolitica da deficit di Glucosio 6 Fosfato Deidrogenasi: in questo tipo di anemia, i globuli rossi vengono distrutti a causa di una carenza di un enzima chiamato Glucosio 6 Fosfato Deidrogenasi.

3. Anemia emolitica da malattie infettive: alcune malattie infettive possono causare la distruzione dei globuli rossi.

4. Anemia emolitica da farmaci: alcuni farmaci possono causare la distruzione dei globuli rossi.

5. Anemia emolitica da difetto congenito della membrana eritrocitaria: una mutazione genetica può causare una fragilità della membrana dei globuli rossi, che li porta a essere distrutti più facilmente.

6. Anemia emolitica da difetto enzimatico: una mutazione genetica può causare un deficit di enzimi necessari per il corretto metabolismo dei globuli rossi, portando alla loro distruzione.

7. Anemia emolitica da agenti fisici: alcune condizioni ambientali, come il freddo estremo o l’estrema pressione atmosferica, possono causare la distruzione dei globuli rossi.

Anemia emolitica da cause intraglobulari

 

L’anemia emolitica intraglobulare è causata da un difetto intrinseco della membrana dei globuli rossi o da un’anomalia nella struttura dell’emoglobina. Ciò può essere causato da una condizione ereditaria, come la talassemia o la drepanocitosi, o da una mutazione genetica spontanea. Altre cause possono includere reazioni autoimmunitarie in cui il sistema immunitario attacca erroneamente i globuli rossi, o effetti collaterali di farmaci o tossine che distruggono i globuli rossi. Infine, l’anemia emolitica può anche essere causata da infezioni virali o batteriche che attaccano i globuli rossi.

Anemia emolitica da cause extraglobulari

In questa forma di anemia emolitica, l’emolisi viene scatenata da cause esterne al globulo rosso, che altrimenti non verrebbe distrutto prematuramente. 

Esempi di cause extra globulari di anemia emolitica includono:

1. Farmaci: alcune medicine possono causare l’anemia emolitica come effetto collaterale. Questi farmaci includono antibiotici come la penicillina,farmaci anticonvulsivanti e i farmaci chemioterapici utilizzati,  per il trattamento del cancro.

2. Infezioni: alcune infezioni possono causare la distruzione delle cellule rosse del sangue. Ad esempio, l’infezione da virus Epstein-Barr può causare l’anemia emolitica.

3. Malattie autoimmuni: alcune malattie autoimmuni, come il lupus eritematoso sistemico, possono causare la produzione di anticorpi che distruggono le cellule rosse del sangue.

4. Tossine: alcune sostanze tossiche, come veleni di serpenti e sostanze chimiche presenti nell’ambiente di lavoro, possono causare l’anemia emolitica.

5. Reazioni trasfusionali: in rari casi, una reazione trasfusionale può scatenare una risposta immunitaria che distrugge le cellule rosse del sangue del paziente.

6. Cause genetiche: in alcuni casi, l’anemia emolitica può essere causata da un difetto genetico che rende le cellule rosse del sangue più vulnerabili alla distruzione.

Anemia emolitica ereditaria

L’anemia emolitica ereditaria è una condizione medica ereditaria caratterizzata dalla distruzione prematura degli eritrociti (globuli rossi) nel sangue. Ciò porta a una ridotta quantità di globuli rossi nel sangue, causando anemia. Questa condizione può essere causata da mutazioni genetiche che influenzano la forma o la struttura degli eritrociti, o dalle difese immunitarie del corpo attaccando erroneamente i globuli rossi.

Ci sono diverse forme di anemia emolitica ereditaria, tra cui la sferocitosi ereditaria, l’ellissocitosi ereditaria. La gravità della condizione varia da persona a persona e può essere influenzata da altri fattori, come l’età, lo stile di vita e la presenza di altre condizioni mediche.

Il trattamento per l’anemia emolitica ereditaria dipende dalla gravità della condizione e può includere la trasfusione di sangue, l’uso di farmaci per prevenire la distruzione dei globuli rossi e la rimozione della milza, se necessario. La gestione di questa condizione richiede una stretta collaborazione tra il medico e il paziente per determinare il miglior approccio per prevenire le complicanze e migliorare la qualità della vita.



Diagnosi anemia emolitica

La diagnosi di anemia emolitica si basa su diversi esami, tra cui:

1. Conteggio ematico completo (CBC): questo esame misura il numero di globuli rossi, bianchi e piastrine nel sangue.

2. Bilirubina totale e frazionata: la bilirubina totale è una sostanza prodotta dalla rottura dei globuli rossi e la sua quantità può indicare la presenza di anemia emolitica.

3. Test di Coombs diretto e/o indiretto: questi test rilevano la presenza di anticorpi nel sangue che attaccano i globuli rossi.

4. Emocromo differenziale: questo esame valuta la morfologia dei globuli rossi, cioè la loro forma e dimensione.

5. Esame delle urine: per verificare la presenza di emoglobina nelle urine, indicativa di una rottura dei globuli rossi.

6. Ulteriori test di laboratorio possono includere analisi del siero per la presenza di marcatori di malattie autoimmuni, come sindrome di Evans, lupus eritematoso sistemico o malattia di Hashimoto.

In alcuni casi può essere necessario eseguire una biopsia del midollo osseo o un’ecografia addominale per individuare eventuali anormalità al fegato o alla milza, gli organi che svolgono il ruolo di distruggere i globuli rossi invecchiati.

Quali sono i sintomi dell’anemia emolitica

I sintomi dell’anemia emolitica possono includere:

Fatica
Debolezza
Pallore della pelle e delle mucose
Battito cardiaco accelerato o irregolare
Dispnea (difficoltà respiratorie)
Dolore addominale
Urine scure
Giallo della pelle e degli occhi (ittero)
Aumento della sensibilità alle infezioni
Aumento della milza (splenomegalia) in alcuni casi.

Tuttavia, i sintomi possono variare a seconda della causa sottostante dell’anemia emolitica. Ad esempio, l’anemia emolitica autoimmune può causare dolore articolare e gonfiore, mentre l’anemia emolitica da infezioni batteriche può causare febbre e brividi. È importante rivolgersi al medico se si presentano sintomi di anemia emolitica.

Come si cura l’anemia emolitica?

La cura dell’anemia emolitica dipende dalla sua causa e dalla gravità.

Alcune opzioni di trattamento possono includere:

Trasfusione di sangue: in caso di anemia emolitica grave o acuta, può essere necessario un trasferimento di sangue percorso per sostituire eventuali globuli rossi persi rapidamente.
Farmaci immunosoppressori: in caso di anemia emolitica autoimmune, può essere prescritto il trattamento con farmaci immunosoppressori per prevenire la distruzione delle cellule rosse del sangue, come steroidi o citotossici.
Chirurgia: in alcuni casi, può essere necessario un intervento chirurgico per rimuovere il fattore che sta causando la distruzione dei globuli rossi, come una massa o un tumore.
Trattamento delle infezioni: se l’anemia emolitica è causata da un’infezione, il trattamento antibiotico può aiutare a risolvere il problema.

È importante individuare il tipo e la causa dell’anemia emolitica per determinare la giusta terapia.

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