A Hispanic female patient with heartburn: A rare presentation of Paroxysmal Nocturnal Hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria (PNH) is a non-malignant, acquired clonal hematopoietic stem cell disease that can present with bone marrow failure, hemolytic anemia, smooth muscle dystonias, and thrombosis. We present a case of a 32 year-old-female, G2P2A0 with no past medical history of any systemic illnesses who refers approximately 2 months of progressively worsening constant heartburn with associated abdominal discomfort. CBC showed leukopenia (WBC 2.9 x 103 /µL) with neutropenia (segmented neutrophils 48%), macrocytic anemia (Hgb 6.1 g/dL, hematocrit 20%, MCV,113 fL) and thrombocytopenia (platelet count 59 x 109/L). Abdomino-pelvic CT scan revealed a superior mesenterc vein thrombosis, which was treated initially with low-molecular-weight heparih for full anticoagulation. Peripheral blood flow cytometry assays revealed diminished expression of CD55 and CD59 on the erythrocytes, granulocytes and monocytes.' Paroxysmal nocturnal hemoglobinuria is a rare, clonal, hematopoietic stem-cell disorder whose manifestations are almost entirely explained by complement-mediated intravascular hemolysis. The natural history of PNH is highly variable, ranging from indolent to life-threatening. The median survival is 10 to 15 years, but with a wide range. Thrombosis is the leading cause of death, but others may die of complications of bone marrow failure, renal failure, myelodysplastic syndrome, and leukemia. Anticoagulation is only partially effective in preventing thrombosis in PNH; thus, thrombosis is an absolute indication for initiating treatment with Eculizumab. Nevertheless, bone marrow transplantation (BMT) is still the only curative therapy for PNH but is associated with significant morbidity and mortality.

Concentraciones falsamente elevadas de hemoglobina glicosilada en 2 pacientes diabéticos con hemoglobina fetal persistente / Falsely high levels of glycosilated hemoglobin in 2 diabetic patients with persistent fetal hemoglobin

Two diabetic patients with unusual high levels of glycosilated hemoglobin measured by ion exchange chromatography are described. Further studies revealed a persistence of fetal hemoglobin in both cases. This condition produces falsely high levels of glycosilated hemoglobin, when ion exchange chromatography is used. These cases may be overtreated with risk of hypoglycemia. Patients with inappropiate levels of glycosilated hemoglobin should be investigated for hemoglobinopathies

Hemoglobinuria paroxística por frío en el lactante / Paroxysmal cold hemoglobinuria

Diez días después del comienzo de molestias sugerentes de infección respiratoria alta viral, un paciente de 11 meses tuvo síntomas, signos y evidencia de laboratorio, de anemia hemolítica y hemoglobinuria que pudieron relacionarse con la exposición al frío. El estudio inmunológico demostró que en su sangre había anticuerpos de Donath-Landsteiner con actividad contra antígeno P. La hemólisis pudo ser controlada manteniendo al paciente en un ambiente calefaccionado

The hereditary haemolytic syndromes

A review is made of recent developments in the study of the hereditary haemolytic syndromes. Current concepts in the pathogenesis of haemolysis are briefly discussed and the various intrinsic haemolytic disorders classified, with particular reference to anaemias due to red cell defects. The hereditary haemolytic syndromes are discussed in detail, as regards to both their genetic interrelationship and the recent demonstration of abnormal haemoglobin moieties in sickle cell trait and anaemia, and in haemoglobin C. disease. Reference is made to the recent application of paper electrophoretic analysis to the identification of these abnormal haemoglobins. Whilst hereditary sphercytosis and the thalassaemia syndromes are but rarely seen in the Caribbean area, the incidence of sickle cell trait is noted to vary between 5-12 percent of the mixed populations. Haemoglobin C. trait has been found to occur in 2 per cent of North American Negroes, so that these two anomalies alone or together may be present in a significant proportion of persons. Emphasis is placed on the potentiating effect which results from the linking of the dissimilar genes responsible for the hereditary haemolytic syndromes. The simultaneous occurrence of any one of these together with that determining the sickle cell trait is the probable cause of the so-called "mild" anaemia found to occur in those heterozygous children of whom one parent fails to show the sickling trait. It is stressed that while the hereditary haemolytic syndromes have many feature in common, the actual cause of red cell destruction varies with the shape to which the erythrocyte is ultimately changed (AU)