Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Glucose-6-phosphate dehydrogenase deficiency is an erythrocyte enzyme disorder caused by mutations in the G6PD gene, which has an X-linked inheritance. Here we analyze the clinical and laboratory characteristics of 24 subjects with G6PD deficiency over 25 years. Their median age at diagnosis was 10.

A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.

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.

[Severe hemolytic anemia due to hemoglobin Southampton: case report].

Variant hemoglobins are the result of different types of mutations that occur in the globin genes. In many cases, these hemoglobinopathies are harmless, while in others they determine alterations in the physical and chemical properties raising clinical manifestations of variable severity. In the unstable hemoglobinopathies, the changes reduce solubility, inducing the formation of precipitates of denaturated hemoglobin (Heinz bodies), which damage the membrane and finally destroy the red blood cells prematurely.

Early mortality in children with advanced mature B-cell malignancies in a middle-income country.

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.

[Glucose 6 phosphate dehydrogenase deficiency: a case series].

We 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.