Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.1.1.49 (glucose-6-phosphate dehydrogenase)
 7,794 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infants on this island are known to have higher incidences of neonatal hyperbilirubinemia and alpha-thalassemia minor than Caucasians. In order to investigate the correlation between these two conditions, we collected a total of 110 newborns with alpha-thalassemia minor delivered at the National Taiwan University Hospital during the period from January 1985 through February 1988 for this retrospective study. The infants in the study group were ascertained to have the condition by the presence of Hb Bart's with a concentration from 3% to 13%, in the cord blood. None of them had glucose-6-phosphate dehydrogenase (G6PD) deficiency. For each study infant, two control infants were selected. Criteria for enrollment in the control group were: (1) same sex; (2) absence of G6PD deficiency; and (3) birth time as close as possible to that of the study infant, with the 1st control born before the study infant and the 2nd control after. The timing of bilirubin quantitation was based on clinical judgement of jaundice by the pediatricians and phototherapy was started as indicated. Gestational age, birth weight, and rates of preterm delivery, low birth weight infants and low Apgar scores were comparable between the study and control groups. On day 3 after birth, the incidence of hyperbilirubinemia (bilirubin level over 10 mg/dl) was significantly lower in the study group than in the control group (0.9% vs 9.5%, Fisher's exact probability = 0.0012). However, the difference was not significant later. The incidence of phototherapy was also significantly lower in the study group (20%) than in the control group (31%).(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Alpha-thalassemia minor and neonatal hyperbilirubinemia. 197 48

Admission screening was performed on 684 Chinese-Canadian patients for thalassemia, abnormal hemoglobins and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Thirty-six healthy Chinese adults were also studied. The incidence of beta-thalassemia minor (hemoglobin A(2) greater than 3.5%) was 3.8%. Presumptive alpha-thalassemia minor (demonstration of occasional red cells containing hemoglobin H inclusion bodies) was found in 6.7%. Two patients had findings consistent with alpha-beta-thalassemia. The incidence of G-6-PD deficiency (abnormal methemoglobin reduction test) in adult males was 4.7%. In a parallel study the incidence of hemoglobin Bart's in 310 Chinese newborns was 6.8%. Two mutant hemoglobins were found - hemoglobin E and hemoglobin J (Bangkok).
 ...
PMID:Thalassemia and G-6-PD deficiency in Chinese-Canadians: admission screening of a hospital population. 556 48

Twenty subjects--patients with anemia and their close relatives representing 7 families, were tested for thalassemia. Heterozygotic beta-thalassemia was detected in 17 cases. The national composition of this patient population was as follows: 7 Pathans (Afghanistan), 1 family; 2 Armenians (Georgia), mother and son; 2 Tajiks, sibs; 2 patients of mixed Russian-Ukrainian-Polish-Azerbaijan origin, mother and son; 1 Russian-Arab child and his Arab father (Syria); 1 Uzbek woman and 1 Russian child. The mean content of Hb in the blood for patients with heterozygotic beta-thalassemia is 110 +/- 3.8 g/liter, that of HbA2 fraction 4.8 +/- 0.26% and of HbF fraction 2.6 +/- 0.39%. Clinical manifestations of the disease varied, being more grave in children than in adults. In an Armenian family from Batumi thalassemia minor was diagnosed in the mother and son, whereas in the father and other son a periodic disease was revealed. In a family of 7 members from Afghanistan thalassemia minor was found in 4 representing the paternal line, minimal thalassemia was suspected in 3, and a deficiency of glucose-6-phosphate dehydrogenase in red blood cells was revealed in 5: in the mother and 4 children. No increase of methemoglobin level was revealed in either of the examinees.
 ...
PMID:[Beta-thalassemia and glucose-6-phosphate dehydrogenase deficiency]. 904 21