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1.
Journal of Gorgan University of Medical Sciences. 2015; 17 (3): 108-113
in Persian | IMEMR | ID: emr-173792

ABSTRACT

Background and Objective: The national screening program for G6PD enzyme deficiency is not able to detect all affected neonates. This study was done to compare the fluorescent spot test [FST], decolorization test, and quantitative enzyme assay [QEA] for detecting G6PD enzyme deficiency in neonates


Methods: In this descriptive study, cord blood samples of 365 neonates were collected. Decolorization test, QEA and DNA test was done for each sample. All of the neonates were tested by FST as a part of national screening program on heel-prick blood sample collected on day 3-5 after birth. QEA was considered as the gold standard. According to QEA test results, neonates with <20% and 20-60% of mean normal enzyme activity were considered as total deficient and partial deficient, respectively


Results: Fluorescent spot test detected 13 male neonates with G6PD enzyme deficiency while decolorization test identified 18 male and 1 female neonates. Using QEA, 19 of male and 28 of female neonates with G6PD enzyme deficiency [26 cases with partial and 2 cases with total deficiency] were diagnosed. DNA analysis detected 34 female case as heterozygote and 14 male neonates as hemizygote for the disease


Conclusion: Fluorescent spot test do not have required sensitivity for screening of neonates with G6PD enzyme deficiency. QEA test is recommended to replace the fluorescent spot test in national screening program


Subject(s)
Humans , Male , Female , Infant, Newborn , Fluorescent Antibody Technique , Enzyme Assays , DNA , Infant, Newborn
2.
Medical Laboratory Journal. 2013; 7 (3): 16-23
in English, Persian | IMEMR | ID: emr-160694

ABSTRACT

Diabetes mellitus is one of complications that thalassemia major patients face with. Hence, blood glucose monitoring is of vital importance to these patients. Because of high level of fetal hemoglobin in these patients, the measurement of hemoglobin AI[c] is not reliable and should be displaced by fructosamine test. The current descriptive study was carried out on 33 beta-thalassemia major patients afflicted with diabetes mellitus [21 female and 12 male cases]. Blood glucose level, fructosamine, hemoglobin AI[C], serum ferritin and fetal hemoglobin were measured. Blood glucose levels are 204 +/- 103 mg/dL and 221 +/- 101 mg/dL [p=0.63]; fetal hemoglobin levels are 9% +/- 7% and 13% +/- 9% [p=0.22]; serum ferritin levels are 1744 +/- 1534 ng/mL and 3253 +/- 1773 ng/mL [p=0.96] in female and male patients, respectively. The level of fructosamine [42 +/- 124 mmol/L] and glycosylated hemoglobin [8.9% +/- 1.8%] are correlated significantly [r=0.69, p<0.01]. Both Hemoglobin A[1c] [r=0.75, p<0.01] and fructosamine [r=0.54, p<0/01] show a significant correlation with blood glucose level. In diabetic thalassemia major patients with frequent blood transfusion, the level of fructosamine and glycosylated hemoglobin are related significantly, therefore; they can be used alternatively

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