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PubMed1979

[Alpha-thalassemia in Puglia. II. Neonatal screening for Bart's hemoglobin].

550 blood specimens from the umbilical cord of newborn babies from Apulia have been screened in order to detect Hb Bart's. The electrophoresis of the haemoglobin by Cellogel (Tris Glycine pH 8.6) carried out on the 550 specimens have revealed in 43 variable quantities of Hb Bart's: 34 cases (6,18%) showed non measurable quota, whereas in the other 9 cases (1,63%) Hb Bart's varied from 2,19% to 26%. The haemoglobin biosynthesis "in vitro" of the baby presenting 26% of Hb Bart's has been reported.

Fetal Blood↗
PubMed1984

Homozygous cystinuria in New South Wales. A study of 110 individuals with cystinuria ascertained by methods other than neonatal screening.

Homozygous cystinuria was ascertained in 110 individuals (44 men) from 78 families because of symptoms in the propositi. The most common renal symptoms were calculi which occurred in 91% of the propositi and in 52% of affected family members. One-third of patients had urinary tract infections. There was a high rate of renal morbidity at an early age; 16 patients had undergone nephrectomy at a mean age of 25 years (range, 12-40 years). Two-thirds of subjects had type I cystinuria on family testing--the same ratio as that reported in a previous study of cases detected by newborn screening in the same population--which eliminates genetic type as a risk factor for stone formation. On the basis of all data, a 62% probability of stone formation by the age of 25 years in patients with cystinuria was estimated. The patients were shorter than Australian controls, and an association between gout and cystinuria was found in adult men.

Adolescent↗
PubMed1984

[Determination of free thyroxine (FT4) for the detection of connatal hypothyroidism within the scope of neonatal screening].

Using the reagents of a commercially available test kit (Henning, Berlin) for the determination of free thyroxin (FT4) in serum we developed a radio immuno assay procedure to measure FT4 in whole dried blood on filter paper. The inter assay coefficient of variation was 19.1%, 10.7%, and 11.0% for the hypo-, normo-or hyperthyroid range for whole blood on filter paper. The corresponding within assay values were 7.0, 10.3, and 5.3% respectively. In 15,793 samples of dried blood on filter paper which were collected on the 5th or 6th day of life for the screening of inborn errors of metabolism or hypothyroidism FT4 was measured in addition to our routine determination of thyroid stimulating hormone (TSH). The mean concentration of FT4 was 20 to 22 pg/ml. 97,8% of all results were found between 10 and 35 pg/ml. Connatal hypothyroidism was confirmed clinically in 5 children showing FT4-values of 3.5, less than 2.0, less than 2.0, 3.4, and 6.2 pg/ml. The corresponding TSH-values were greater than 224, greater than 224, 99, 203, and 129 microU/ml. To make sure that a sufficient amount of blood had been eluted from the filter paper we measured the concentration of hemoglobin as an additional parameter. Low FT4 together with low hemoglobin concentrations were obtained in 18 samples indicating that a mismeasurement of FT4 might have occurred. We suggest that the determination of TSH in doublicates, which is the routine screening procedure in West Germany might be replaced by a combined determination of FT4 and TSH.

Congenital Hypothyroidism↗