The authors wish to supplement his remarks article Hemolytic colic anemia caused by glucose-6-phos

The authors wish to supplement his remarks article Hemolytic colic anemia caused by glucose-6-phosphate colic dehydrogenase. State with diagnostic pitfalls "of Daniel Eriksson Hogling and Christian Kid (Läkartidningen 48/2013).
The described patient case illustrates the importance of increased awareness of the diagnosis colic of G6PD deficiency and that the sampling is done before blood transfusion. It writes Soheir Beshara and co-author, who with his intervention would complement a previous article in Läkartidningen.
In the article by Daniel Eriksson Hogling and Christian Kid [1] presented a classic case of G6PD deficiency, where the diagnostics according to the authors have been hampered, among other things because of the active hemolysis. Repeated measurements of enzyme activities were considered to be of value in normal initial examination and persistent clinical suspicion. The authors also suggest molecular diagnostic methods useful for screening in populations and families colic or in prenatal diagnostics, where the identification of specific mutations may be useful for better identification of clinical phenotype and provide epidemiological information.
Patient case highlights a classic symptom picture. It is important to note that G6PD deficiency may occur as födoämnesinducerad (favism), infection-induced or drug-induced acute hemolytic anemia. It can also occur as prolonged neonatal jaundice, colic or, very rarely, as a chronic congenital hemolytic anemia [2].
The case illustrates the diagnosis of the disease can be improved with increased awareness of the condition, and that adults may be unaware of their disease and suffer relapses. Increased knowledge of the diagnosis is also important given that immigration to Sweden from countries with a prevalence of G6PD deficiency of 3 percent or higher in the male population increased in recent years. In 2000 was part of Sweden's population of 310 000 individuals from these countries, equivalent to 3.5 percent of the total population; In 2010, the number increased colic to 510,000 (5.5 percent).
The enzyme deficiency is a hereditary colic X-linked genetic defect which point mutations in the G6PD gene results of G6PD variants with different degrees of activity and function occurs. Over 180 different mutations have been described, many of which lacks functional significance [3]. Severe clinical symptoms occur in enzyme activity lower than 10 percent, while variants with 10-60 percent residual enzyme activity may occur with milder symptoms. It is therefore considered quantitative method for measuring enzyme activity, based on the spectrophotometric measurement of NADPH production of NADP, as the standard should be achieved [4, 5]. Limitations in the diagnosis of heterozygous women have been described by mainly using semi-quantitative methods [6]. Molecular diagnostics for population studies are useful only for a homogeneous ethnicity. That is not the case in Sweden, which has immigration from many countries and thus a heterogeneous population in which different mutations of G6PD deficiency may occur.
As with other congenital erytrocytsjukdomar, such as thalassemia, sickle cell anemia and spherocytosis, the blood sampling before a cornerstone for the proper assessment of the analytical results. Information on any given transfusion must be entered in the analysis. It is therefore necessary to test for the diagnosis immediately when the patient is seeking, before blood transfusion is given. If you suspect a false negative test, the test is taken not earlier than two weeks after a relapse, or two months after a transfusion [2].
Reticulocytes contain higher enzyme content than mature erythrocytes, which is believed to contribute to false-normal results. Experience of over a thousand enzyme determinations carried out at the Department of Clinical Chemistry, Karolinska University Laboratory, during the past seven years, however, shows that patients with enzyme colic levels may be associated with a clinical picture has been diagnosed even at very high reticulocyte count. colic
In light of the high prevalence in certain populations, it happens that women are homozygous for the mutation. A number of female patients with such a low enzyme activity has also been identified as heterozygous carriers with only mild impairment of enzyme activity.
The quantitative method shows very good results in the external quality assurance system (UK NEQAS). Diagnosis of mild heterozygosity can be a challenge colic with the quantitative method, but on the other hand, the clinical picture is almost not noticeable. Blood transfusion and lack of information on blood transfusion, colic by contrast, has been the largest colic source of error for falsely normal test results.
Another important, not as well known pitfall is that G6PD deficiency diagnosis can be made more difficult colic by the simultaneous presence of beta-thalassemia, a not uncommon combination colic of these geographic areas. The diagnosis can be made more difficult colic by concomitant iron deficiency [3]. The reference values for neonates is about 50 percent higher than in adults [4], which should be considered in assessing the results of analyzes. A Chart