scholarly journals Hemoglobin Sunshine Seth: A Case Report of Low-Oxygen-Affinity Hemoglobinopathy

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Leah S. Heidenreich ◽  
Jennifer L. Oliveira ◽  
Peter J. Holmberg ◽  
Vilmarie Rodriguez

Pulse oximetry is routinely used in the newborn nursery for clinical monitoring and to detect critical congenital heart disease. The differential diagnoses for reduced peripheral oxygen saturation in an infant include congenital heart disease, respiratory distress syndrome, transient tachypnea of the newborn, persistent pulmonary hypertension of the newborn, meconium aspiration syndrome, pneumonia, pneumothorax, and sepsis. The diagnostic evaluation for neonatal hypoxemia can be invasive and expensive. When this evaluation is unrevealing, other interventions may be tried without clear benefit to the patient, including, but not limited to, supplemental oxygen. Therefore, it is important to consider alternative, albeit rare, diagnoses, including hemoglobinopathies with abnormal oxygen binding properties. Mutations in the structure of alpha- and beta-globin chains can alter the affinity of hemoglobin for oxygen, and changes in oxygen affinity may result in changes in the oxygen saturation detected by pulse oximetry. These changes may or may not be of clinical significance. This case report describes Hemoglobin Sunshine Seth, a rare low-oxygen-affinity hemoglobin variant presenting as reduced peripheral oxygen saturation in an otherwise well-appearing infant male.

Author(s):  
Fatchul Wahab ◽  
Mahrus Abdul Rahman ◽  
Teddy Ontoseno ◽  
Risa Etika ◽  
Alit Utamayasa ◽  
...  

ABSTRACT Delay diagnosis of Critical Congenital Heart Disease (CHD) can be associated with sudden clinical deterioration and dangerous cardiovascular conditions. The oxygen saturation screening among newborns in the first 10 hours of life is essential for early detection of critical CHD. This study aims to prove that measuring oxygen saturation among newborns in the first 10 hours of life can detect critical CHD. This study is a diagnostic experimental with consecutive sampling subjects in the infant care unit of Dr. Soetomo Hospital, including all newborns with birth weight ≥ 1500 grams and oxygen saturation at ≥ 1 hour of age below 90%. The measurement of oxygen saturation uses fingertip pulse oximetry in the right hand and foot at the age of 10 hours. A "positive oxygen saturation" is defined as oxygen saturation ≤ 85% or different oxygen saturation ≥ 3%, while a "negative oxygen saturation" is when the oxygen saturation is 85% to 90% or different oxygen saturation is 3%. Echocardiography is performed for the gold standard. From November 2019 to January 2020, 11 newborns underwent an oxygen saturation examination. Five subjects (45.46%) in the category of positive oxygen saturation, echocardiographic showed all Critical CHD (100%). Six subjects (54.54%) with negative oxygen saturation category, echocardiographic results showed two critical CHD (33.34%) and four non-critical CHD (66.66%). Fisher's exact test p < 0.005 (α). The diagnostic oxygen saturation test among newborns at 10 hours of life shows ≤85%, all subject’s echocardiography (100%) shows detection of critical CHD, while saturation 85% to 90% has of 33.3% for detection of critical CHD. The sensitivity and specificity of oxygen saturation for early diagnosis of critical CHD are 100% and 67%, respectively. Keywords: critical congenital heart disease, oxygen saturation, fingertip pulse oximetry, diagnostic tests*Corresponding Author: [email protected]


2018 ◽  
Vol 58 (2) ◽  
pp. 90-4
Author(s):  
Lidia Halim ◽  
Muhammad Ali ◽  
Tiangsa Sembiring

Background Critical congenital heart disease (CCHD) is relatively common, with a prevalence of 6-8 in every 1,000 live births. This congenital anomaly is a newborn condition that would be ideally suited for a screening program, if simple and reliable methods were available. Pulse oximetry (PO) has been proposed as a screening method to detect CCHD. Objective To assess for a possible association between decreased oxygen saturation and CCHD in newborns. Methods We conducted a cross-sectional study from March 2014 to February 2015 in several hospitals in North Sumatra. Healthy, full term and post-term newborns aged 2 to 72 hours underwent pulse oximetry measurements on the right hand and one of the lower extremities. If oxygen saturation (SpO2) was ≤ 95%, the measurement was repeated 2 more times. Subjects also underwent echocardiography. Results A total of 386 newborns underwent SpO2 measurements: 377 newborns had SpO2 > 95% and 9 newborns had SpO2 ≤ 95%. Of the infants with SpO2 > 95%, 297 were excluded because their parents refused echocardiography examination. Thus, 80 newborns with SpO2 > 95% and 9 newborns with SpO2 ≤ 95% underwent echocardiography. Echocardiography revealed that 5 of 9 newborns with SpO2 ≤ 95% suffered from Tetralogy of Fallot (ToF) (3 subjects) and transposition of the great arteries (TGA) (2 subjects). One infant with SpO2 > 95% had ventricular septal defect (VSD), as detected by echocardiography. Oxygen saturation ≤ 95% had significant association with CCHD (P<0.001). Conclusion Decreased oxygen saturation has a significant association with critical congenital heart disease in newborns.


2018 ◽  
Vol 58 (5) ◽  
pp. 252-6
Author(s):  
Nadia Qoriah Firdausy ◽  
Indah Kartika Murni ◽  
Agung Triono ◽  
Noormanto Noormanto ◽  
Sasmito Nugroho

Background Brain abscess is a severe infection of brain parenchyma, which occurs in 25-46% of cases of uncorrected cyanotic congenital heart disease. Low arterial oxygen saturation is the main risk factor for brain abscess in children with cyanotic congenital heart disease, however, the arterial oxygen saturation test is invasive and not routinely done in our setting. Objective To evaluate low peripheral oxygen saturation as a risk factor for brain abscess in children with cyanotic congenital heart disease. Methods We conducted a matched, case-control study at Sardjito Hospital, Yogyakarta for children aged less than 18 years with cyanotic congenital heart disease, from 2010-2016. Case subjects were children with brain abscess complications. The control group had only cyanotic congenital heart disease, and were matched for age and sex to the case group. During hospitalization due to the brain abscess complication in the case group, data regarding peripheral oxygen saturation, polycythemia, pneumonia, sepsis, dental caries and restricted pulmonary blood flow were collected and compared between both groups. Results During the study period, 18 children with cyanotic congenital heart disease had brain abscesses. This group was compared to the control group of 36 children. Bivariate analysis revealed that the lowest level of peripheral oxygen saturation (OR 0.92; 95%CI 0.85 to 0.98; P=0.02) and dental caries (OR 3.3; 95%CI 1.01 to 11.18; P=0.04) were significant risk factors for brain abscess. However, in the multivariate analysis, the only statistically significant risk factor associated with brain abscess was the lowest level of peripheral oxygen saturation (OR 0.92; 95%CI 0.86 to 0.99; P=0.04). Conclusion Low peripheral oxygen saturation is a significant risk factor for brain abscess development in children with cyanotic congenital heart disease.  A decrease of 1% peripheral oxygen saturation may increase the risk of brain abscess by 8%.


2019 ◽  
Vol 18 (3) ◽  
pp. 62-69
Author(s):  
E. L. Krivosheina ◽  
N. Yu. Koval ◽  
E. N. Egorova ◽  
M. A. Gorshkova ◽  
N. A. Karamyan ◽  
...  

Hereditary hemolytic anemia caused by unstable hemoglobin is a rare pathology, characterized by variability of clinical manifestations. This disease is characterized by the hemolytic crises, which are frequently associated with infections or taking drugs that cause hemolysis. Age of debut depends on which of the globin chains mutation occurs. Among these diseases, hemolytic anemia associated with the presence of a structurally abnormal unstable hemoglobin with low oxygen affinity in the erythrocytes is a special group. With this type of abnormal hemoglobin, pulse oximetry demonstrates falsely low oxygen saturation of the blood, with increased oxygen delivery to the tissues. It is important to identify unstable hemoglobin in order to avoid the misinterpretation of low oxygen saturation during the pulse oximetry in emergency cases, surgeries or intensive therapy. The article presents an analysis of the family with hereditary hemolytic anemia due to unstable hemoglobin Cheverly. The main clinical and diagnostic markers of the disease are described in detail. Parents gave their permission for using personal data for clinical research and publications.


Author(s):  
Fatemeh Amiri Simkouii ◽  
Maryam Jamshidi ◽  
Mostafa Behjati Ardakani ◽  
Farzaneh Toosi ◽  
Mohammad Reza Alipour ◽  
...  

Introduction: Congenital heart disease is the most common congenital anomaly. About 50% of Neonates with congenital heart disease are asymptomatic in the first few days of life and are not diagnosed on initial examination. Pulse oximetry is a non-invasive method that can show the percentage of oxygen saturation in the blood and congenital heart disease. Methods: This was a descriptive cross-sectional study and the sampling method was census. Echocardiography was performed for all neonates with spo2 less than 95% and also neonates who were diagnosed with a problem by a cardiologist. After collecting the samples, the results obtained from pulse oximetry, physical examination and echocardiography were analyzed using SPSS software version 16 and statistical tests of Kolmogorov-Smirnov normality and Spearman correlation. Was investigated. Results: In pulse oximetry evaluation, 1.9% of neonates had spo2 (arterial oxygen saturation) less than 95%. 1.7% of neonates had heart problems in physical examination and 2.12% of neonates had heart problems in echocardiography. The highest correlation between pulse oximetry and echocardiography was 0.917. Conclusion: Considering the diagnostic importance of congenital heart diseases and their impact on a person's life, it is recommended that pulse oximetry be added to physical examinations at birth as a screening method for heart disease.


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