Search

Background: Usually, laboratory diagnostics of hereditary hemoglobin disorders is fairly straightforward. Sometimes, however, correct diagnosis can be difficult. In this study, we describe a family with multiple mutations and sequence variations in the alpha- and beta-globin gene clusters., Methods: Hemocytometry results were obtained using an automated cell counter. Hemoglobin variant analysis was performed by cation-exchange HPLC. PCR and DNA sequence analyses were used to identify mutations in the globin genes., Results: The proposita was referred to our laboratory for hematological evaluation [hemoglobin 145 g/L (119-155 g/L) mean corpuscular volume 72 fl (80-97 fl), mean corpuscular hemoglobin 26 pg (28-36 pg), erythrocytes 5.6 x 10(12)/L (3.7-5.0 10(12)/L)]. Characterization and quantification of hemoglobin variants showed 11.3% HbA1, 4.4% HbA2, 58.9% HbC and 23.0% HbF. Subsequent analysis revealed, in addition to a heterozygous HbC mutation, the presence of a beta-thalassemia causing mutation (-90C>T), a heterozygous alpha-thalassemia (-alpha(-3.7)/alpha alpha) and three different gamma-globin sequence variations. Additional molecular analysis was performed in all family members., Conclusions: In the family presented in this study, 10 different mutations were found in the globin genes. Molecular analysis was necessary to clarify hemoglobin variant analysis, in particular the low amount of HbA1 in the proposita. Knowledge of the molecular background facilitates in the understanding of the hematological parameters and proper counseling of the patient.

The objective of this study was to relate multiple laboratory results of initial blood gas analysis in patients visiting the emergency department to mortality. A total of 1806 adult patients visiting the emergency department for any reason, who underwent blood gas analysis, were included in this study. The results of nine laboratory parameters (ionised calcium, potassium, sodium, glucose, lactate, pH, pCO(2), pO(2) and saturation) were related to mortality. Comparison of the means of survivors' and non-survivors' age, pH, p(O)2 , glucose and lactate showed relevant differences (p < or = 0.001). When dividing the group of patients into quintiles, hypo- and hyperkalaemia (<3.6 or >4.3 mmol/L), hypocalcaemia (<1.12 mmol/L), hyperglycaemia (> 10.6 mmol/L), hyperlactataemia (>2.9 mmol/L) and acidosis (pH < 7.34) were all related to high mortality in comparison to the quintile with the lowest mortality (p < 0.0001). Interestingly, even within the reference range for lactate and ionised calcium, there was an increased risk of mortality, so these reference ranges should be interpreted with care. Glucose and lactate have additional clinical value, but are not always requested. Therefore, glucose and lactate should be routinely added to a blood gas request. Our study shows differences in mortality for laboratory parameters in patients visiting the emergency department, irrespective of the underlying pathology.