Stefano Cutillo

Phenobarbital for prevention of hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborn infants.

Summary Prophylactic treatment with barbituric acid has proved effective in preventing severe hyperbilirubinemia in G-6-PD-deficient newborn infants. The changes in hemoglobin and hematocrit during the first days of life showed only moderate erythrocyte destruction in the patients studied.

Favism and Hemolytic Anemia in Glucose-6-Phosphate Dehydrogenase-Deficient Subjects in North Sardinia

The present paper reports the incidence from 1965 to 1979 of acute hemolytic anemia for a total of 948 cases in G-6-PD-deficient subjects due to the ingestion of fresh or dried fava beans or certain drugs and to viral infections. The highest percentage of hemolytic crises was due to fresh fava beans (94.4%). No cases of favism were observed in breast-fed babies whose mothers had eaten fava beans or from pollen inhalation. The male sex proved to be the hardest hit. Hemoglobin values were lower than or equal to 7 g/dl in about 75% of males and 50% of females. Total bilirubin values were lower than 103 mumol/l (6 mg/dl) in about 75% of males and 85% of females. Both the hemoglobin and bilirubin values were statistically significant. Mean transaminase values (SGPT) were significantly higher than those of normal controls. No correlation between favism and blood groups was found.

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis

OBJECTIVE To evaluate the frequency of de novo monoallelic expression of the ANK1 gene in hereditary spherocytosis individuals appearing as recessive. STUDY DESIGN We studied 40 unrelated children with spherocytosis and their normal parents. The genomic distribution of the ankyrin (AC)n dinucleotide repeats was evaluated in the patients showing combined ankyrin and spectrin deficiency. To search for the absence of mRNA derived from one of the two ANK1 genes, cDNA from the heterozygous patients was amplified using polymerase chain reaction. This was analyzed for the (AC)n dinucleotide repeats. RESULTS Thirty-three hereditary spherocytosis subjects had variable degrees of combined ankyrin and spectrin reduction; 19 were found to be heterozygous for the AC repeat lengths and were further studied. In 12, we found a cDNA polymerase chain reaction product from one ankyrin gene alone. These findings strongly suggested the nonexpression of one of the two ANK1 genes because of the de novo mutational events. CONCLUSION The de novo loss of an ankyrin allele expression is a frequent cause of hereditary spherocytosis in children with normal parents. Therefore the category of genuinely recessive hereditary spherocytosis cases is further reduced compared with spherocytosis cases because of de novo mutations. The determination of the (AC)n microsatellite polymorphisms appears as a helpful and reliable tool for the discrimination between these two categories.

Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases

Summary We describe three italian subjects from two unrelated families affected with isolated hereditary spherocytosis (HS) without other clinical abnormalities, associated with partial spectrin and ankyrin deficiency. In both families the propositus has normal biological parents, and thus appears to be the result of a new mutation; in oneof them the disease is further transmitted in an autosomal dominant fashion. Cytogenetic analysis of the latter family excluded abnormalities of the short arm of chromosome 8. We speculate that in both kindreds ankyrin deficiency is the primary defect related to ankyrin gene mutation. Several pieces of evidence suggest that ankyrin deficiency is probably the most common molecular defect in HS. It is inherited in a dominant manner and its clinical and biochemical expression is heterogenous.

Phototherapy for neonatal hyperbilirubinemia in mature newborn infants with erythrocyte G-6-PD deficiency

Phototherapy was employed in treatment of newborn infants with erythrocyte G-6-PD deficiency whose serum bilirubin concentrations exceeded 10 mg/100 ml on the second or third day of life. Exchange transfusions were required for two of the 12 treated babies and for six of the 12 control infants. It is noteworthy that exposure to light did not affect the erythrocyte GSH content nor did it increase hemolysis.

Serum Concentrations of Haptoglobin and Hemopexin in Favism and Thalassemia

The serum levels of haptoglobin (Hp) and hemopexin (Hx) have been investigated in favism and thalassemia. In 25 children with favism, Hp was absent in 22 and both Hp and Hx in 7 cases. In 45 children with Cooley’s anemia, Hp was absent in 13 and Hx in 37 cases. In 25 adult carriers of thalassemia minor, the findings were similar to those observed in healthy controls. The absence of Hx in spite of moderate hemolysis in most cases of Cooley’s anemia is emphasized.

Salicylamide Glucuronide Formation in Newborn Babies with G-6-PD Deficiency

Salicylamide glucuronide formation has been studied in 23 newborn babies with erythrocyte G-6-PD deficiency and in 15 normal newborns on the first day of life. Glucuronide formation was significantly lower (p less than 0.001) in the former in comparison with the controls. In the newborns with G-6-PD deficiency who subsequently became hyperbilirubinemic an even lower mean glucuronide formation was observed (p less than 0.01) in respect to the non-jaundiced G-6-PD-deficient newborns.

Salicylamide-Glucuronide formation in children with favism and in their parents.

Salicylamide-glucuronide formation has been determined in 27 children who underwent a favism crisis, 25 parents, and in 25 normal children who served as controls. A highly significant mean lower glucuronide formation was observed in the favism group in respect to the controls. The difference between fabic children and their parents was significant, and between parents and controls there was no significant difference.

β-Thalassemia trait and hyperbilirubinemia in G-6-PD deficient newborn infants

Hb A2 was determined in 50 subjects with erythrocyte G-6-PD deficiency who presented with hyperbilirubinemia in the neonatal period and in 100 non-hyperbilirubinemic G-6-PD deficient newborn infants, at the age of 12 months or more. Six subjects in the first group and 13 in the second were found to be carriers of the β-thalassemia trait. Statistical analysis of the data did not show any significant difference between the two groups. It seems that the β-thalassemia trait does not provide any protection against neonatal hyperbilirubinemia associated with G-6-PD deficiency.