Alpha-thalassaemia prenatal diagnosis by two PCR-based methods

In Cyprus all couples carrying α⁰-thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is offered to all of them. Prenatal diagnosis for α-thalassaemia is routinely done by two independent molecular methods. With the first method, the mutations of the parents are directly determined by gap-PCR and then the chorionic villus sample (CVS) is examined for the presence of these mutations. With the other method, a (CA)_n repeat polymorphic site located between the ψα₁- and α₂-globin genes is used for determining the presence or absence of the normal and mutant alleles. In the period from 1995 to 1999, molecular analysis of 46 couples in which haematological data were consistent with deletion of two α-globin genes in both partners indicated that only 13 of them were actually at risk for haemoglobin (Hb) Bart's hydrops fetalis and prenatal diagnosis was provided in 16 pregnancies. The molecular diagnosis was possible in all cases with the use of both gap-PCR and (CA)_n repeat polymorphisms analysis. No misdiagnosed cases for α-thalassaemia have been reported to date. Copyright © 2001 John Wiley & Sons, Ltd.     

Ultrasonographic scanning of placental thickness and the prenatal diagnosis of homozygous alpha-thalassaemia 1 in the second trimester

In order to evaluate the association between placental thickness (PT) and fetal homozygous alpha-thalassaemia 1 before the appearance of classic ultrasound findings of haemoglobin (Hb) Bart's hydrops fetalis, a total of 473 pregnancies were collected. The control group included 422 normal pregnancies with a gestational age from 14 to 23 weeks and the study group included 51 affected fetuses in the same gestational period. Fetal biparietal diameter (BPD) and PT were measured by high-resolution ultrasound. PT was evaluated against BPD. In the control group, the PT generally increased in parallel with the advancement of gestational age. All PT measurements in the study group were above the mean PT of their respective gestational week in the control group. Forty-six (90 per cent) of the pregnancies in the study group had PT larger than the mean plus two standard deviations of the control group. This study suggests that ultrasound measurement of PT may be a useful aid in the prenatal diagnosis of Hb Bart's hydrops fetalis before its classic findings become apparent in the late second trimester or third trimester.     

Oral administration of potassium bromate, a major water disinfection by-product, induces oxidative stress and impairs the antioxidant power of rat blood

Potassium bromate (KBrO₃) is a widely used food additive, a water disinfection by-product and a known nephrotoxic agent. The effect of KBrO₃ on rat blood, especially on the anti-oxidant defense system, was studied in this work. Animals were given a single oral dose of KBrO₃ (100 mg/kg body weight) and sacrificed 12, 24, 48, 96 and 168 h after this treatment. Blood was collected from the animals and separated into plasma and erythrocytes. KBrO₃ administration resulted in increased lipid peroxidation, protein oxidation, hydrogen peroxide levels and decreased the reduced glutathione content indicating the induction of oxidative stress in blood. Methemoglobin levels and methemoglobin reductase activity were significantly increased while the total anti-oxidant power was greatly reduced upon KBrO₃ treatment. Nitric oxide levels were enhanced while vitamin C concentration decreased in KBrO₃ treated animals. The activities of major anti-oxidant enzymes were also altered upon KBrO₃ treatment. The maximum changes in all these parameters were 48 h after the administration of KBrO₃ and then recovery took place. These results show for the first time that KBrO₃ induces oxidative stress in blood and impairs the anti-oxidant defense system. Thus impairment in the anti-oxidant power and alterations in the activities of major anti-oxidant enzymes may play an important role in mediating the toxic effects of KBrO₃ in the rat blood. The study of such biochemical events in blood will help elucidate the molecular mechanism of action of KBrO₃ and also for devising methods to overcome its toxic effects.     

Prenatal diagnosis of Hb H disease due to compound heterozygosity for South-East Asian deletion and Hb constant spring by polymerase chain reaction

A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South-east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South-east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated.     

Determination of hemoglobin adduct of a musk xylene metabolite in trout as biomarker of exposure by gas chromatography mass spectrometry

Introduction Nitromusksarewidelyusedassyntheticfragranceingredientsinformulationofsoaps,laundrydetergents,lotions,andbody careproducts,andsoon.Thecommercial anddomesticuseanddischargeofthesecompoundsfrommunicipalsewagesystemshaveledtotheirubiquitousoccurr…     

Evaluation of hematological changes in population exposed to fluoride

Absorption of fluorine compounds produces chronic toxicity and the hematological changes appear earlier in blood than other organs. A study was undertaken to determine the status of hematological changes in the individual residing in fluoride-contaminated area. Two hundred and fifty nine and 233 subjects from the contaminated area and an unaffected area, respectively, were selected for hematological investigations. Total erythrocytes (red blood corpuscles (RBC)), total leucocytes (white blood corpuscles (WBC)), and hemoglobin (Hb) concentrations were determined in these populations. Results revealed that Hb values were significantly lower among all age groups in the exposed population compared to control subjects. There was a quantitative rise in WBC counts in study subjects compared to controls. The RBC counts showed reduction among exposed population.