Scant information about the early toxicity of high-dose chemotherapy regimens for the treatment of mature B-cell malignancies (B-non-Hodgkin lymphoma) in developing countries is available, so we performed a retrospective evaluation of children with B-non-Hodgkin lymphoma treated with Berlin-Frankfurt-Muenster-based protocols in Argentina (1993 to 2007). In the second protocol, induction chemotherapy was modified introducing high-dose cytarabine and etoposide (block CC) instead of high-dose methotrexate (block AA). Forty-one patients with stage III and elevated lactate dehydrogenase or stage IV or B-acute lymphoblastic leukemia were included. Five patients (12.1%) had an early death at a median of 23 days after treatment initiation, caused by sepsis in 4 and by a Stevens Johnson syndrome in 1. Children that had an early death were significantly more likely to present with renal failure (P=0.04) and have significantly higher levels of phosphate and creatinine on admission (P=0.02 and 0.008). Eighty percent of children dying early had prior extensive abdominal surgery and positive blood cultures after the first cycle. Induction with AA block was associated with a higher frequency of severe orointestinal toxicity (P=0.04). We conclude that renal failure was associated to increased risk of mortality leading to a higher risk of sepsis, especially in patients that underwent abdominal surgery.

Glucose 6 phosphate dehydrogenase deficiency. A case seriesResumen Describimos las características clínicas y de laboratorio de 50 individuos con deficiencia de glucosa-6-fosfato deshidrogenasa (D-G6PD). La D-G6PD representó el 1,1% de los diagnósti-cos realizados. Se detectó la coexistencia de D-G6PD con otra eritropatía: G6PD/Hb S en 2 pacientes y G6PD/esferocitosis congénita en 1 paciente. Todos los varones (100%) presentaron una prueba de Brewer (PB) positiva, pero sólo el 56% de las mujeres la presentaron. La actividad enzimática media (AEM) de los varones fue de 0,85 ± 0,52 U/g Hb. La AEM de las mujeres con PB positiva fue de 3,82 ± 1,26 U/g Hb y fue de 5,65 ± 2,84 U/g Hb en las mujeres con PB negativa. Todos los individuos recibieron asesoramiento genético y la lista de fármacos y alimentos con efecto oxidante. Resaltamos la importancia de incluir una prueba de pesquisa en el estudio de las anemias, para detectar individuos asintomáticos y la coexistencia con otras eritropatías. Palabras clave: enzimopatía, G6PD, anemia hemolítica, ictericia. AbstRActWe describe the laboratory and clinical characteristics of 50 patients with glucose 6 phosphate dehydrogenase deficiency (G6PD). G6PD deficiency represented 1.1% of all the diagnosis made. Coexistence of G6PD with other erythropathy was detected as follow: G6PG/HbS 2 patients and G6PG/hereditary spherocytosis 1 patient. A positive Brewer's test was found in 100% of males but in only 56% of women. Males had a mean enzymatic activity (MEA) of 0.85 ± 0.52 U/g Hb. Women, with positive Brewer's test, showed a MEA of 3.82 ± 1.26 U/g Hb, while the MEA of women with negative Brewer's test was 5.65 ± 2.84 U/g Hb. Genetic counseling and the list of food and drugs potentially harmful was given to all patients. The inclusion of simple screening tests, such as Brewer's test, in the study of anemia, enables us to detect asymptomatic males and carriers in whom this enzymopathy was co-inherited with another erythropathy.

β-Thalassemia intermedia (β-TI) patients present with a wide spectrum of phenotypes depending on the presence of primary, secondary, and tertiary genetic modifiers which modulate, by different mechanisms, the degree of imbalance between α and β chains. Here we describe a new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in four members of a family, associated with secondary genetic modifiers in three of them. The different genotype present in this family was suspected after hematological analysis and thorough observation of blood smears highlighting their importance in the identification of β-TI patients among members of the same family.