scholarly journals Hemoglobin E: a potential interferent in measurement of glycated hemoglobin

2020 ◽  
Vol 7 (9) ◽  
pp. 1423
Author(s):  
Shobhit Goel ◽  
Preeti Tripathi ◽  
Arijit Sen ◽  
Sangeetha Sampath
Keyword(s):  
Glycosylated Hemoglobin ◽  
Interesting Case ◽  
Exchange Chromatography ◽  
Measured Parameter ◽  
Common Source ◽  
Hemoglobin E ◽  
Laboratory Staff ◽  
Hb A1c ◽  
North East ◽  
Hb E

Glycosylated hemoglobin (HbA1C) is a routinely measured parameter to monitor long term glycemic control in patients with diabetes mellitus. There are many potential interferents which can affect measurement of HbA1C by high performance liquid chromatography (HPLC). Variant hemoglobins, especially, are a common source of confusion and errors in HbA1C measurement. Authors present an interesting case of Hb E variant (undiagnosed hitherto) which came to attention when the machine repeatedly failed to give Hb A1C levels. Hb E is the commonest Hb variant in North East India. In the presence of Hb E, HbA1C may not be detected by ion exchange chromatography as both hemoglobin’s co- elute together, thereby causing errors. In such cases, the clinician may resort to subcutaneous sugar monitoring as an alternate or if required, Hb A1C measurement may be done by other techniques like immunoassay technique or boronated affinity chromatography. The laboratory staff and clinicians, both, should be aware of this limitation of HbA1C estimation in patients with HbE and other Hb variants.

scholarly journals IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

2014 ◽  
Vol 6 (1) ◽  
pp. e2014060 ◽  
Author(s):  
R S Balgir
Keyword(s):  
Sickle Cell ◽  
Clinical Manifestations ◽  
Central India ◽  
Madhya Pradesh ◽  
Red Cell ◽  
Hemoglobin E ◽  
Vulnerable People ◽  
Hb E ◽  
Double Heterozygosity ◽  
First Time

Background: Red cell inherited hemoglobin anomalies are commonly encountered in the central region of India. These cause a public health concern due to high degree of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. Purpose: To report five typical families of hemoglobin E disorders identified for the first time in the state of Madhya Pradesh from central India. Methods: Out of a total of 445 couples/families (excluding the present study) with 1526 persons (848 males and 678 females) referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of hemoglobin E disorders worthy of detailed investigations. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. Results: For the first time, we have encountered nine cases of heterozygous hemoglobin E trait, two members with hemoglobin E-β-thalassemia (double heterozygosity), two cases of sickle cell-hemoglobin E disease (double heterozygosity), and none with homozygous hemoglobin E. Cases  of hemoglobin E trait, hemoglobin E-β-thalassemia, sickle cell-β-thalassemia and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like RBC, Hb level, HCT, MCV, MCH and MCHC, representing abnormal hematological profile and clinical manifestations before blood transfusion. Conclusions: Double heterozygosity for hemoglobinopathies such as occurrence of β-thalassemia mutation with structurally abnormal hemoglobins (Hb S and Hb E) is a rare entity, but occurs with severe clinical manifestations only in those areas or communities where these are highly prevalent, testifying the migrations and genetic admixture. Distribution of hemoglobin E and β-thalassemia in different districts of Madhya Pradesh indicates that abnormal Hb E gene has wide spread and needs prevention for the rehabilitation of vulnerable people in central India. 

scholarly journals Hemoglobin E disease and glycosylated hemoglobin

2015 ◽  
Vol 19 (5) ◽  
pp. 683 ◽  
Author(s):  
MohammadShafi Kuchay ◽  
Ambrish Mithal ◽  
Niharika Yedla
Keyword(s):  
Glycosylated Hemoglobin ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

scholarly journals Interesting Case of Leptospirosis Presenting as Jaundice and Acute Renal Failure in North East Tennessee

2018 ◽  
pp. 80-82
Author(s):  
Imran Khan ◽  
Muhammad Khalid ◽  
Jonathan Moorman ◽  
Lamis Ibrahim ◽  
Dima Youssef
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Interesting Case ◽  
North East ◽  
East Tennessee

scholarly journals Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E

Proteomes ◽  
2019 ◽  
Vol 7 (1) ◽  
pp. 8 ◽  
Author(s):  
Saranyoo Ponnikorn ◽  
Rungrawee Mongkolrob ◽  
Suwit Klongthalay ◽  
Sittiruk Roytrakul ◽  
Kitima Srisanga ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Bone Marrow ◽  
Clinical Symptoms ◽  
Premature Death ◽  
Ineffective Erythropoiesis ◽  
Western Blot Assay ◽  
Hemoglobin E ◽  
Hb E ◽  
Global Health Issue ◽  
Alpha Globin

β-thalassemia/Hb E is a global health issue, which is characterized by a range of clinical symptoms from a mild and asymptomatic anemia to severe disorders that require transfusions from infancy. Pathological mechanisms of the disease involve the excess of unmatched alpha globin and iron overload, leading to ineffective erythropoiesis and ultimately to the premature death of erythroid precursors in bone marrow (BM) and peripheral organs. However, it is unclear as to how BM microenvironment factors contribute to the defective erythropoiesis in β-thalassemia/Hb E patients. Here, we employed mass spectrometry-based comparative proteomics to analyze BM plasma that was collected from six β-thalassemia/Hb E patients and four healthy donors. We identified that the differentially expressed proteins are enriched in secretory or exosome-associated proteins, many of which have putative functions in the oxidative stress response. Using Western blot assay, we confirmed that atypical lipoprotein, Apolipoprotein D (APOD), belonging to the Lipocalin transporter superfamily, was significantly decreased in BM plasma of the tested pediatric β-thalassemia/Hb E patients. Our results highlight that the disease condition of ineffective erythropoiesis and oxidative stress found in BM microenvironment of β-thalassemia/Hb E patients is associated with the impaired expression of APOD protein.

Effect of temperature on quantifying glycated (glycosylated) hemoglobin by cation-exchange chromatography.

1985 ◽  
Vol 31 (1) ◽  
pp. 114-117 ◽  
Author(s):  
R Flückiger ◽  
T Woodtli
Keyword(s):  
Ionic Strength ◽  
Cation Exchange ◽  
High Performance ◽  
Glycated Hemoglobin ◽  
Operating Temperature ◽  
Glycosylated Hemoglobin ◽  
Regression Line ◽  
Exchange Chromatography ◽  
Effect Of Temperature ◽  
Cation Exchange Chromatography

Abstract As a consequence of nonideal chromatographic conditions, values for stable glycated hemoglobin (HbA1c) determined by cation-exchange chromatography in a commercial minicolumn system (y) or by "high-performance" liquid chromatography (x) differ markedly, yielding the regression line y = 0.82x + 0.6. With use of the protocol specified by the manufacturer, 20% of the HbA1c peak is not collected in the HbA1c fraction. Increasing the ionic strength of the eluting buffer by increasing the operating temperature to 28 degrees C increases the rate of elution from the minicolumn, making results of the two methods more closely comparable (y = 0.98x - 0.22). Because at a given pH the elution volume is determined primarily by the ionic strength, close limits on the composition of the eluting buffer are set by the temperature-dependence of its ionic strength. At a specified temperature and pH the position of a peak can be judged to within a volume of 1 mL if the conductivity of the eluent does not vary by more than +/- 0.05 mS.

Glycosylated hemoglobin measured by affinity chromatography: micro-sample collection and room-temperature storage.

1983 ◽  
Vol 29 (6) ◽  
pp. 1080-1082 ◽  
Author(s):  
R R Little ◽  
J D England ◽  
H M Wiedmeyer ◽  
D E Goldstein
Keyword(s):  
Affinity Chromatography ◽  
Whole Blood ◽  
High Performance ◽  
Room Temperature ◽  
Hemoglobin A1c ◽  
Glycosylated Hemoglobin ◽  
Exchange Chromatography ◽  
Sample Collection ◽  
Room Temperature Storage ◽  
Temperature Storage

Abstract Under proper conditions, whole blood can be stored at room temperature for as long as 21 days before measurement of glycosylated hemoglobin by affinity chromatography. Whole blood (anticoagulated with EDTA or heparin) was placed in capillary tubes, which were then sealed at both ends and stored at room temperature. Just before assay, whole blood was rinsed from the tubes and diluted 10-fold with water. Samples of each patient's blood were assayed as whole-blood hemolysates by affinity chromatography after zero, seven, 14, and 21 days of storage. Values for glycosylated hemoglobin did not change over 21 days of storage and values for each storage day correlated well (r = 0.97, p less than .0001) with hemoglobin A1C measured in fresh erythrocyte hemolysates by "high-performance" liquid ion-exchange chromatography.

scholarly journals Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency

Blood ◽  
1996 ◽  
Vol 88 (7) ◽  
pp. 2761-2767 ◽  
Author(s):  
DC Rees ◽  
J Duley ◽  
HA Simmonds ◽  
B Wonke ◽  
SL Thein ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Beta Thalassemia ◽  
Hemoglobin E ◽  
Oxidant Damage ◽  
Hb E ◽  
Hb Variant ◽  
Chain Synthesis ◽  
The Stability ◽  
Enzyme Deficient ◽  
Globin Chain Synthesis

A Bangladeshi family is described in which the genes for both hemoglobin E (Hb E) and pyrimidine 5′ nucleotidase deficiency are segregating. An individual homozygous for both these conditions has a severe hemolytic anemia, whereas family members who are homozygous for Hb E are asymptomatic and those homozygous for pyrimidine 5′ nucleotidase deficiency have the mild hemolytic anemia that is characteristic of this disorder. Globin-chain synthesis experiments have shown that the mechanism underlying the interaction between these two genotypes is a marked decrease in the stability of Hb E in pyrimidine 5′ nucleotidase-deficient red blood cells (RBCs). It has also been found that in the enzyme-deficient RBCs in which Hb E is highly unstable, free alpha-chains, though not beta E-chains, acoumulate on the membrane. In view of the increasing evidence that the hemolysis associated with pyrimidine 5′ nucleotidase deficiency results not only from an increase in the level of erythrocyte pyrimidines, but also from inhibition of the hexose monophosphate shunt activity in young erythrocytes, it is likely that the marked instability of Hb E in the enzyme-deficient cells results from oxidant damage acting on a mildly unstable Hb variant. These observations may have important implications for the better understanding of the pathophysiology of Hb E/beta-thalassemia, globally the commonest important form of thalassemia.

scholarly journals MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA

2019 ◽  
Vol 11 (1) ◽  
pp. e2019038 ◽  
Author(s):  
Paramee Phanrahan ◽  
Supawadee Yamsri ◽  
Nattiya Teawtrakul ◽  
Goonnapa Fucharoen ◽  
Kanokwan Sanchaisuriya ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Globin Gene ◽  
Phenotypic Expression ◽  
Nucleotide Polymorphisms ◽  
Thalassemia Patient ◽  
Hemoglobin E ◽  
Modifying Factors ◽  
Myb Gene ◽  
Hb E ◽  
Klf1 Gene

Background: The finding of many Thai Hb E-β0-thalassemia patients with non-transfusion dependent thalassemia (NTDT) phenotype without co-inheritance of α-thalassemia has prompted us to investigate the existence of other genetic modifying factors. Methods: Study was done on 146 adult Thai patients with NTDT Hb E-β0-thalassemia and a homozygous β-thalassemia patient without co-inheritance of α-thalassemia. Multiple single-nucleotide polymorphisms (SNPs) associated with γ-globin gene expression including the Gγ-XmnI of HBG2 gene, rs2297339, rs4895441, and rs9399137 of the HBS1L-MYB gene, rs4671393 in the BCL11A gene, and G176AfsX179, T334R, R238H and -154 (C-T) in the KLF1 gene were investigated using PCR-and related techniques. Results: Heterozygous and homozygous for Gg-XmnI of HBG2 gene were detected at 68.0% and 6.1%, respectively. Further DNA analysis identified the rs2297339 (C-T), rs4895441 (A-G), and rs9399137 (T-C) of HBS1L-MYB gene in 86.4%, 22.5% and 20.4%, respectively. The rs4671393 (G-A) of the BCL11A gene was found at 31.3%. For the KLF1 gene, the T334R and G176AfsX179 (+/-) were detected at 8.2% and 1.4%, respectively. Conclusion: It was found that these SNPs when analyzed in combination could explain the mild phenotypic expression of all cases. These results underline the importance of these informative SNPs on phenotypic expression of Hb E-β-thalassemia patients.

scholarly journals Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease

Blood ◽  
1996 ◽  
Vol 87 (3) ◽  
pp. 887-892 ◽  
Author(s):  
S Fucharoen ◽  
N Siritanaratkul ◽  
P Winichagoon ◽  
J Chowthaworn ◽  
W Siriboon ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Beta Thalassemia ◽  
Limited Information ◽  
Cell Disease ◽  
Hemoglobin F ◽  
Hemoglobin E ◽  
Globin Chains ◽  
Hb E ◽  
Alpha Globin

Hydroxyurea (HU) is one of several agents that have been shown to enhance hemoglobin (Hb) F levels in patients with sickle cell disease and may be useful as a therapy for beta-globinopathies. However, limited information exists on the effects of HU in patients with thalassemia. Accordingly, we examined the hematologic effects of orally administered HU in 13 patients with beta-thalassemia/Hb E, including four patients who had been splenectomized. These patients were treated with escalating doses (final range, 10 to 20 mg/kg/d) for 5 months and were observed in the outpatient hematology clinic every 2 to 4 weeks. Complete blood counts including reticulocyte counts, amounts of Hb E and Hb F, G gamma:A gamma and alpha:non-alpha globin biosynthetic ratios were evaluated before and during treatment. Almost all patients responded with an average increase of 33% in Hb F levels, from a mean (+/- SD) of 42% +/- 11% to 56% +/- 8% (P < .0001), and a reciprocal decline in the percentage of Hb E from 59% +/- 9% to 49% +/- 8% (P < .001). Reticulocytosis was decreased from a mean (+/- SD) of 18.0% +/- 15.6% to 11.7% +/- 9.1% (P < .05); there was also a slight (10%) but statistically significant increase in hemoglobin levels and an improved balance in alpha:non-alpha globin chains ratios. The side effects were minimal in most patients, although these patients tended to tolerate a lower dose of HU before significant myelosuppression than has been our previous experience in sickle cell disease. One splenectomized patient died of sepsis during the trial. We conclude that increased Hb F production in beta-thalassemia/Hb E patients, with an improvement in the alpha:non-alpha globin ratios and, probably, the effectiveness of erythropoiesis, can be achieved using HU. Longer trials of HU in this population, including at other doses and in combination with other agents, appear warranted.

Hemoglobin E Syndromes

Hematology ◽  
2007 ◽  
Vol 2007 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Elliott Vichinsky
Keyword(s):  
Iron Overload ◽  
Clinical Course ◽  
Phenotypic Variability ◽  
Thalassemia Major ◽  
Screening Tests ◽  
Genetic Modifiers ◽  
Hemoglobin E ◽  
Mild Anemia ◽  
Hb E ◽  
Nitric Oxide Deficiency

Abstract Hemoglobin (Hb) E is one of the world’s most common and important mutations. It results in a heterogeneous group of disorders whose phenotype range from asymptomatic to severe. Hb E trait and Hb EE are mild disorders. The combination of Hb E and Hb S (Hb SE) results in a sickle cell disease syndrome similar to sickle β+ thalassemia. It is important to distinguish Hb E disorders diagnostically because of this marked difference in clinical course among different genotypes. Screening tests, including hemoglobin electrophoresis and high-pressure liquid chromatography (HPLC), may suggest other mutations, unless one is familiar with the findings. E β-thalassemia, the most serious form of E syndromes, affects a million people worldwide and is increasing in North America. Its phenotype ranges from mild anemia to severe transfusion-dependent thalassemia major. Several genetic modifiers affect the phenotype, including the type of β-thalassemia mutation, Hb F levels, and co-inheritance of α-thalassemia. However, the cause of the phenotypic variability is largely unknown. A prospective natural history study of E β-thalassemia in Sri Lanka suggests that environmental modifiers are prognostically important. The clinical course of E β-thalassemia is punctuated by acute and chronic complications that may cause serious morbidity and mortality. Recent studies indicate these patients are at high risk for thromboembolism secondary to a hypercoagulable state increased by splenectomy. Morbidity from iron overload in nontransfused patients secondary to increased gastrointestinal iron absorption is common. Cardiopulmonary disease, including pulmonary hypertension, requires ongoing monitoring and is secondary to iron overload, thromboembolism, and hemolysis-induced nitric oxide deficiency. These patients are excellent candidates for Hb F–modulating agents because moderate changes in hemoglobin may result in marked improvement in phenotype. Recent studies with hydroxyurea indicate 40% of patients will clinically improve with hydroxyurea.

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