Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos / Hereditary xerocytosis. Presentation of two pediatric cases

La xerocitosis hereditaria es un desorden poco frecuente causado por defectos en la permeabilidad eritrocitaria, que se caracteriza por anemia hemolítica de gravedad variable y sobrecarga de hierro. El diagnóstico suele ser tardío y confundirse con otras anemias hemolíticas, lo que puede llevar a indicaciones de procedimientos, como la esplenectomía, contraindicados en estos pacientes. Se reportan las características clínicas, hematológicas y moleculares de dos pacientes pediátricos no relacionados con diagnóstico de xerocitosis hereditaria. Ambos presentaban eritrocitos deshidratados con alta concentración de hemoglobina corpuscular media, frotis no patognomónico, marcadores de hemólisis y una curva de fragilidad osmótica resistente. El diagnóstico se confirmó por la secuenciación del gen PIEZO.Se resalta la importancia de reconocer la causa de la anemia hemolítica para dar un enfoque terapéutico preciso y dar adecuado consejo genético

Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can lead to procedural indications, such as splenectomy, contraindicated in these patients. We report the clinical, haematological, and molecular characteristics of two patients from two unrelated families affected by hereditary xerocytosis. Both patients had dehydrated erythrocytes with a high concentration of mean corpuscular hemoglobin, non-pathognomonic smears, markers of hemolysis and a resistant osmotic fragility curve. The diagnosis was confirmed by the sequencing of the PIEZO gene. We emphasize the importance of recognizing the cause of hemolytic anemia to give an accurate therapeutic approach and give adequate genetic counseling.

Hemolytic anaemia due to unstable hemoglobin arising from spontaneous mutation--a case report.

9 years old male child presented clinically with thalassaemia intermedia phenotype. Investigations revealed hemolytic anaemia due to an unstable hemoglobin. Parents were found negative for the abnormal hemoglobin, suggesting a spontaneous mutation in the child. This is the third case of unstable hemoglobin to be reported from India. Clinically it is important that unstable hemoglobin should be suspected in a patient with thalassaemia intermedia phenotype even if both parents are haematologically normal.

Bilirubin crystals in neutrophils in neonatal hyperbilirubinaemia.

Serum unconjugated bilirubin (UCB) levels > 205.2 mumol/L were present in 120 of 143 cases of neonatal hyperbilirubinaemia. Sixty-five per cent (78/120) cases showed bilirubin crystals in the neutrophils of Leishman's stained smears from EDTA blood. The proportion of crystal positive (CP) neutrophils was higher in septicaemia than in Haemolytic Disease of Newborn (HDN). Mortality rate was significantly higher (P < 0.001) in CP septicaemic cases when compared with those which were crystal negative (CN).

Measurements of cell volume and hemoglobin concentration of erythrocytes from hereditary ovalocytosis and hereditary spherocytosis.

Red cell analysis using the laser technique was done on erythrocytes from 11 cases of hereditary ovalocytosis (HV) and one case of hereditary spherocytosis (HS). Heterogeneity in red cell volume measured as red cell distribution width (RDW) and heterogeneity of hemoglobin concentration in the red cells as measured by hemoglobin concentration distribution width (HDW) were analyzed. All of the studied cases showed abnormal increase in both RDW and HDW. The patient with HS had decreased MCV 77.4 fL (normal range = 80-99 fL). The HS patient had microcytes 14.7 per cent with markedly increased RDW 22.3 per cent (normal range = 11.5-14.5%). Increased hemoglobin concentration was demonstrated in HS red cells as shown by increased CHCM 39.2 g/dl (normal range = 33-37) with 5.86 g/dl of HDW (normal range = 2.2-3.3 g/dl). The HV patients had slightly decreased cell volume, MCV = 84.1 +/- 11.8 fL, with 9.2 +/- 10.1 per cent microcytes and 17.5 +/- 5.7 per cent RDW. Decreased hemoglobin concentration was shown in HV red cells as shown by decreased CHCM (31.7 +/- 1.9 g/dl) with slightly increased HDW (3.3 +/- 0.9 g/dl). The HV patients had increased per cent hypochromic red cells (14.8 +/- 18.6%). The ovalocytic red cells in HV patients had obviously reduced hemoglobin concentration compared to the spherical red cells of HS patients.

Estomatocitosis adquirida y su relación con alteraciones de la pared gástrica / Acquired stomatocytosis and its relationship with changes gastric wall

Se describe estomatocitosis adquiridas vinculadas a la presencia de alteraciones del epitelio gástrico. Se ha observado la aparición de estomatocitosis en extendidos de sangre periférica en ciento ochenta y ocho pacientes sobre seis mil estudiados al azar y enviados al laboratorio por causas varias. Se ha comprobado en cincuenta y ocho de ellos que cuando el porcentaje de estomatocitos era de 5% o más, los estudios radiológicos y endoscópicos demostraban la presencia de diversas alteraciones del epitelio gástrico (úlcera, gastritis, hernia hiatal). Cuando se repitió el estudio del extendido de sangre periférica del tratamiento se observó la disminuición o desaparición de los estomatocitos en los casos de úlcera y hernia hiatal, no así en los de gastritis. Los estudios de fragilidad osmótica realizados en pacientes con estomatocitosis indicaron que esta era normal. El 63,8% de los pacientes con estomatocitosis tenían entre 40 y 70 años y el 90,9% presentaban hematocritos comprendidos entre 39 y 49% con hemoglobina normal. Se concluye de los resultados obtenidos que la observación en extendidos de sangre periférica de un porcentaje del 5% o más de estomatocitos puede indicar la presencia de alteraciones de la pared gástrica