Anemia hemolítica autoinmune / Autoimmune haemolytic anaemia

Las anemias hemolíticas autoinmunes (AHAI) son trastornos hematológicos adquiridos ocasionados por una destrucción periférica de eritrocitos incrementada, mediada por autoanticuerpos dirigidos frente a antígenos eritrocitarios. Se clasifican según etiología en primarias y secundarias, y según el tipo de anticuerpo detectado y temperatura de reacción en AHAI por anticuerpos calientes (AHAI-C) y AHAI por anticuerpos fríos (AHAI-F).El pilar del manejo en AHAI-C continúa siendo el tratamiento con glucocorticoides, y la adición precoz de rituximab ha demostrado buenos resultados en los últimos estudios. Las AHAI-F primarias se tratan principalmente con rituximab, solo o combinado con quimioterapia.En fase de desarrollo avanzado encontramos nuevos fármacos como los inhibidores de Syk, Ig anti-FcRn e inhibidores del complemento, que permitirán ampliar el arsenal terapéutico, especialmente en casos refractarios o recidivantes. (AU)

Autoimmune haemolytic anaemias (AIHA) are acquired haematological disorders caused by increased peripheral erythrocyte destruction mediated by autoantibodies against erythrocyte antigens. They classified according to aetiology into primary and secondary, and according to the type of antibody and reaction temperature into AIHA due to warm antibodies (w-AIHA) and AIHA due to cold antibodies (c-AIHA).The mainstay of management in w-AIHA remains glucocorticoid therapy, and the early addition of rituximab has shown good results in recent studies. Primary c-AIHA is mainly treated with rituximab, alone or in combination with chemotherapy.New drugs such as Syk inhibitors, anti-FcRn Ig and complement inhibitors are in advanced development and will expand the therapeutic arsenal, especially in refractory or relapsed cases. (AU)

[Autoimmune haemolytic anaemia]. / Anemia hemolítica autoinmune.

Autoimmune haemolytic anaemias (AIHA) are acquired haematological disorders caused by increased peripheral erythrocyte destruction mediated by autoantibodies against erythrocyte antigens. They classified according to aetiology into primary and secondary, and according to the type of antibody and reaction temperature into AIHA due to warm antibodies (w-AIHA) and AIHA due to cold antibodies (c-AIHA). The mainstay of management in w-AIHA remains glucocorticoid therapy, and the early addition of rituximab has shown good results in recent studies. Primary c-AIHA is mainly treated with rituximab, alone or in combination with chemotherapy. New drugs such as Syk inhibitors, anti-FcRn Ig and complement inhibitors are in advanced development and will expand the therapeutic arsenal, especially in refractory or relapsed cases.

Jumping Translocation in a Patient with Acute Leukemia and Fatal Evolution.

Jumping translocations are uncommon cytogenetic abnormalities in which a segment of a donor chromosome, often 1q, is transferred to two or more receptor chromosomes. We describe the case of a 64-year-old man with a history of acute myeloid leukemia associated with myelodysplastic syndrome, who presented with a relapse of the leukemia and, concomitantly, with the appearance of a jumping translocation involving chromosome 1q. The patient had a poor clinical course without the possibility of performing targeted treatment, and he died 5 months after relapse. Jumping translocations are a reflection of chromosomal instability, and they could be related to epigenetic alterations such as pericentromeric chromatin hypomethylation, telomere shortening, or pathogenic variants of the TP53 gene. The existing data suggests a poor clinical outcome, a high risk of disease progression, and an unfavorable prognosis. More molecular studies are required to gain an in-depth understanding of the genetic mechanism underlying these alterations and their clinical significance and to be able to apply an optimal treatment to patients.