RESUMO
Hyperunstable hemoglobins (Hbs) are challenging to diagnose and may be missed on conventional hemolytic anemia work-up. Here, we report the case of a 2-year-old Indian boy with infancy-onset severe hemolytic anemia. Its etiology was revealed by targeted next-generation sequencing (NGS) to be the rare Hb Mizuho (HBB: c.206T>C). This variant had been missed on the initial routine laboratory investigations (heat and isopropanol tests for unstable Hbs) owing to its hyperunstable nature.
Assuntos
Anemia Hemolítica , Hemoglobinas Anormais , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/genética , Povo Asiático , Pré-Escolar , Hemoglobinas Anormais/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , MasculinoRESUMO
Acquired platelet dysfunction with eosinophilia (APDE) is a syndrome which has transient state of platelet dysfunction in the presence of marked eosinophilia. This bleeding disorder, otherwise known as "non-thrombocytopenic purpura with eosinophilia", occurs commonly in children from South-East Asia. We report an 11 years old male child, who presented with ecchymotic patches over lower limbs, of recent onset. His hemogram revealed increased eosinophils with a normal platelet count. Coagulation screen revealed normal parameters except increase in bleeding time. Platelet aggregation studies showed normal platelet aggregation with ristocetin, reduced aggregation with ADP and no aggregation was seen with collagen.