scholarly journals A Fetal Hemoglobin Variant of Unusual Genetic Interest

Blood ◽  
1962 ◽  
Vol 20 (6) ◽  
pp. 675-684 ◽  
Author(s):  
DAVID J. WEATHERALL ◽  
CORRADO BAGLIONI

Abstract A fetal hemoglobin variant abnormal in the α peptide chains has been found in an umbilical cord blood sample obtained from an infant who had inherited Hb-G (presumably identical with GPhila.) from his father. This provides evidence that α chain synthesis in fetal and adult life is under a single genetic control and that α chain mutations, unlike β chain mutations, may be manifested in intrauterine life.

HLA ◽  
2019 ◽  
Vol 94 (5) ◽  
pp. 442-443 ◽  
Author(s):  
Satyen Y. Sanghavi ◽  
Tripti U. Gaunkar ◽  
Vinayak V. Kedage

Blood ◽  
1966 ◽  
Vol 27 (5) ◽  
pp. 670-676 ◽  
Author(s):  
ROSE G. SCHNEIDER ◽  
RICHARD T. JONES ◽  
KIYOSHI SUZUKI

Abstract A fetal hemoglobin variant, designated hemoglobin FHouston, was found in the cord blood sample of a healthy, term Negro infant. The variant, comprising about 15 per cent of the total cord blood hemoglobin, diminished concomitantly with hemoglobin F, and it was barely detectable in the blood when the infant was 4 months old. The hemolysates of the parents and two siblings resolved into the usual adult pattern, but a trace amount of a fraction similar to hemoglobin FHouston was present in the father’s hemolysates and not in the mother’s. The ultraviolet absorption spectrum indicates that hemoglobin FHOUSTON contains γ polypeptide chains, and immunologic studies reveal the presence of both α and γ chains. In hybridization tests the alteration appears in the γ chain. Peptide chromatograms of hemoglobin FHouston indicated the presence of α and γ chains, but failed to reveal an abnormality. Amino acid analyses suggest that there may be a substitution of an alanyl for a glutamyl residue.


2021 ◽  
Vol 7 (2) ◽  
pp. 74-78
Author(s):  
Ika Rara Rosita ◽  
Agustini Utari ◽  
Maria Mexitalia

Background: Leptin plays an important role in regulating body weight, metabolism, and reproductive functions. Leptin affects metabolism by reducing nutrient intake and increasing energy expenditure which eventually also plays a role in infant growth.Objective: This study aims to determine the relationship between leptin levels and infant growth age 0-6 months.Methods: A prospective cohort study was done for six months on 38 infants, age 0-6 months, from breastfeeding mothers with normal pregnancies. The samples were taken twice, firstly when the infant was born using an umbilical cord blood sample, and secondly at the age of six months, using a vein blood sample. Serum leptin levels were measured using the ELISA method. Infant growth was assessed using WHO 2005’s z-scores.Results: A total of 50 babies were included in the study, 38 of them had been studied completely. Significant correlations were found between the mean of the umbilical cord and six months of age leptin levels (p <0.001), between delta leptin with WHZ and delta leptin with WAZ at six months of age (p = 0.002 and p = 0.003, respectively), and between leptin levels with WHZ (p<0.001) and leptin levels with WAZ (p = 0.004) at six months of age. Leptin levels at the age of six months are lower than umbilical cord blood leptin. Conclusion: The greater decrease of leptin level in the first six months is associated with better infant growth.


Author(s):  
Jianying Yan ◽  
Jie Dong ◽  
Xiaoqian Lin ◽  
Lichun Chen ◽  
Zhuanji Fang ◽  
...  

IntroductionTo explore the role of ferritin in placenta, serum and umbilical cord blood of pregnant women and the changes of oxidative stress injury as well as cell apoptosis in placenta in the pathogenesis of preeclampsia (PE).Material and methodsSixty pregnant women with severe PE were assigned into early-onset and late-onset PE group. Another 60 cases of normal late pregnant women with similar gestational weeks were divided into early-onset and late-onset control group. Maternal serum and fetal umbilical cord blood ferritin content was determined by automatic biochemical immunoassay system; mRNA expression levels of ferritin and ferritin heavy chain (FTH) were detected by reverse transcription real-time fluorescence quantitative polymerase chain reaction (RT-qPCR). Western Blot was used to detect the relative expression level of ferritin and apoptosis; the contents of total superoxide dismutase (T-SOD) and malondialdehyde (MDA) and glutathione peroxidase (GSH-Px) were detected by colorimetry.ResultsSerum uric acid (UA) and creatinine (Cr) levels of PE groups were significantly higher when compared to the controls. The serum ferritin levels in blood sample and umbilical cord blood sample were significantly higher relative to the controls. However, the mRNA and protein levels of ferritin levels in placenta samples were significantly lower compared with the controls. The placental cleaved caspase-3, Bcl-2 levels were significantly lower than the early onset PE group. The levels of GSH-Px and MDA in placenta were significantly higher.ConclusionsThese results may assist understanding the pathogenesis of PE and provide potential biomarkers for diagnosis of PE.


PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 734-736
Author(s):  
John R. Priest ◽  
Jan Watterson ◽  
Richard T. Jones ◽  
Anne E. Faassen ◽  
Bo E. Hedlund

A well but cyanotic newborn was found to have a mutant γ-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as γ-chain synthesis was replaced by β-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.


2017 ◽  
Vol 23 (4) ◽  
pp. 722-723
Author(s):  
Susan P. Montgomery ◽  
Susan L. Stramer

Blood ◽  
1980 ◽  
Vol 55 (4) ◽  
pp. 564-569
Author(s):  
P Fessas ◽  
NP Anagnou ◽  
D Loukopoulos

L-alpha-Glycerol-3-phosphate dehydrogenase (EC 1.1.1.8) has been reported to be absent in the erythrocytes of normal adults, but can be found in those of cord blood and of thalassemia major. The aid of this study was to investigate whether there is any relation between GDH and gamma-chain synthesis. Erythrocyte GDH activity was determined on 118 different blood samples. It was undetectable in normal adult erythrocytes and definitely high in cord blood cells (23.6 UI/10(11) RBC). Considerable GDH activity was also noted in patients with thalassemia major (11.0 IU10(11) RBC) as well as in cases with pronounced reticulocytosis (11.4 IU/10(11) RBC). Red cells from beta- thalassemia heterozygotes exhibited moderate but distinct GDH activity (5.2 IU/10(11) RBC). After fractionation into young and old erythrocyte populations, clearly higher GDH activity was found in the younger cells; however, there was no significant correlation with the reticulocyte count. Presence of reticulocytes alone appears insufficient to explain the values obtained in cord blood and the thalassemias, especially heterozygous. Furthermore, no direct correlation between GDH and fetal hemoglobin (HbF) was obtained in cord and thalassemic erythrocytes.


2021 ◽  
Vol 17 ◽  
Author(s):  
Shubha Rao ◽  
Himanshi Jain ◽  
Anjali Suneel ◽  
Roopa Padavagodu Shivananda ◽  
Akhila Vasudeva

Background: The purpose of intrapartum fetal monitoring by cardiotocograph (CTG) is to identify early signs of developing hypoxia so that appropriate action can be taken to improve the perinatal outcome. Although CTG findings are well known to monitor the progress of the labor due to the paucity of recommendations, there has always been a clinical dilemma as the term fetuses respond differently than a preterm fetus. However, umbilical cord blood pH can distinguish the infant at high risk for asphyxia and related sequel. Therefore, because of differences in fetal physiology in term and preterm fetuses, CTG findings vary, and hence the validity of CTG to determine fetal acidosis should be different. Aims and Objectives: This study aimed to correlate abnormal intrapartum CTG findings with umbilical cord blood pH in term and preterm labor and thus evaluate the success of CTG in predicting fetal acidosis during labor. Methods: The present study included 210 women in labor (70 preterm and 140 term) with abnormal intrapartum CTG that was classified as per 2015 revised International Federation of Gynecologists and Obstetrician (FIGO) guidelines. Immediately after delivery 2 ml Umbilical artery cord blood sample was taken in a pre-heparinized syringe for analysis, pH <=7.2 was taken as acidosis and pH >7.2 was taken as normal. The measured data were maternal general characteristics which included gravida status, associated comorbidities, method of induction and character of liquor, the intrapartum CTG tracings recorded the cord arterial blood pH and the neonatal characteristics such as APGAR score and neonatal outcome. Results: Data from 70 preterm labor was compared with 140 term labor. In this study, 20.9 % of the babies had acidosis. Suspicious CTG due to decreased variability were more common in the preterm group than in the term group (21.4% vs. 8.6% p<0.05). Positive predictive value (PPV) of abnormal CTG for fetal acidosis in the preterm group was found to be higher than that in term group, PPV of pathological CTG being even higher than suspicious CTG. Women with suspicious CTG had 82 % less risk of fetal acidosis as compared to pathological CTG. Women with Bradycardia had 5.9 times the risk of fetal acidosis as compared with normal and tachycardia. Conclusion: Abnormal CTG should be managed appropriately without any delay to prevent acidosis and cord blood pH should be done in all labors with abnormal CTG. However, our findings of a higher incidence of lower cord blood pH and suspicious CTG due to decreased variability alone, highlight the limitation of criteria currently used for interpretation of CTG in preterm labors.


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