Hb S (HBB: c.20A>T) Characteristics by High Performance Liquid Chromatography in Patients with Sickle Cell Disease Receiving the Novel Agent Voxelotor

Hemoglobin ◽  
2021 ◽  
pp. 1-3
Author(s):  
Dimitris A. Tsitsikas ◽  
Mawlid Kamal ◽  
Adeyinka Braimoh ◽  
Susan Benson ◽  
Jibril Abukar
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
The Novel ◽  
Cell Disease ◽  
Hb S ◽  
Novel Agent

scholarly journals Sickle cell disease in Western Nepal

2019 ◽  
Vol 4 (1) ◽  
pp. 15-19 ◽  
Author(s):  
Rajan Pande ◽  
Pragya Gautam Ghimire ◽  
Priyankar Bahadur Chand ◽  
Sharmila Gupta
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Sickle Cell Disease ◽  
Ethnic Group ◽  
Sickle Cell ◽  
Joint Pain ◽  
High Performance ◽  
Cell Disease ◽  
Report Analysis ◽  
The Mean

Introduction: Since 2003, only few cases of sickle cell disease have officially been reported in Nepalese medical journals, and all reported patients belong to the Tharu ethnic group of Nepal. This is the first study that details sickle cell disease and carrier in 1250 individuals in western Nepal. Methods: This is a retrospective review of the patients and carriers of sickle cell disease diagnosed by either a positive haemoglobin electrophoresis report or a positive high performance liquid chromatography (HPLC) report. Analysis was done using SPSS 20. Results: Out of the 1250 individuals, 51.4% were females. 601 (48.08%) were patients with a form of sickle cell disease, the mean age was 24.5  12 yrs years. Most patients came from Bardiya district. Most common symptoms were related to joint pain. The patients and carriers of sickle cell disease were mostly from Tharu ethnic group (97.7%). Conclusion: These data suggest that sickle cell disease and other haemoglobinopathies are more prevalent than previously reported among members of the Tharu ethnic group and other residents of western Nepal. More research is imperative to assess the burden of the sickle cell disease and other haemoglobinopathies in Nepal.

Compound heterozygosity Hb S/Hb Hope (β136Gly→Asp): a pitfall in the newborn screening for sickle cell disease

1998 ◽  
Vol 5 (1) ◽  
pp. 27-30 ◽  
Author(s):  
R Ducrocq ◽  
A Bévier ◽  
A Leneveu ◽  
J Elion ◽  
M Maier-Redelsperger ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Globin Gene ◽  
Cell Disease ◽  
Analytical Strategy ◽  
Screening Strategies ◽  
Analytical Strategies ◽  
Hb S ◽  
Blood Specimens

The presence of Hb Hope associated with Hb S may represent a pitfall (false positive) in the neonatal detection of sickle cell disease by two of the most widely used analytical methods in screening programmes—isoelectric focusing (IEF) and high performance liquid chromatography (HPLC). This example illustrates the need to improve analytical strategies to avoid unnecessary anxiety and summoning of families often from a cultural background in which testing of the father is difficult to obtain. It is suggested that using two independent HPLC procedures might improve the specificity of the screening strategies. Additionally, simple procedures for detection of the most common mutations of the β globin gene on DNA extracted from dried blood specimens could be easily developed for the control of abnormal samples. These procedures could be introduced into the analytical strategy.

scholarly journals Voxelotor Treatment Interferes With Quantitative and Qualitative Hemoglobin Variant Analysis in Multiple Sickle Cell Disease Genotypes

2020 ◽  
Vol 154 (5) ◽  
pp. 627-634
Author(s):  
Nicola J Rutherford-Parker ◽  
Sean T Campbell ◽  
Jennifer M Colby ◽  
Zahra Shajani-Yi
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Clinical Laboratory ◽  
The United States ◽  
Cell Disease ◽  
Hemoglobin Variant ◽  
Hbd Punjab ◽  
The Impact

Abstract Objectives Voxelotor was recently approved for use in the United States as a treatment for sickle cell disease (SCD) and has been shown to interfere with the quantitation of hemoglobin (Hb) S percentage. This study aimed to determine the effect of voxelotor on the quantitation of hemoglobin variant levels in patients with multiple SCD genotypes. Methods In vitro experiments were performed to assess the impact of voxelotor treatment on hemoglobin variant testing. Whole blood samples were incubated with voxelotor and then analyzed by routinely used quantitative and qualitative clinical laboratory methods (high-performance liquid chromatography [HPLC], capillary zone electrophoresis [CZE], and acid and alkaline electrophoresis). Results Voxelotor modified the α-globin chain of multiple hemoglobins, including HbA, HbS, HbC, HbD-Punjab, HbE, HbA2, and HbF. These voxelotor-hemoglobin complexes prevented accurate quantitation of multiple hemoglobin species, including HbS, by HPLC and CZE. Conclusions Technical limitations in quantifying HbS percentage may preclude the use of HPLC or CZE for monitoring patients treated with voxelotor. Furthermore, it is unclear whether HbS-voxelotor complexes are clinically equivalent to HbS. Consensus guidelines for reporting hemoglobin variant percentages for patients taking voxelotor are needed, as these values are necessary for determining the number of RBC units to exchange in acute situations.

Multicenter Evaluation of HemoTypeSC as a Point-of-Care Sickle Cell Disease Rapid Diagnostic Test for Newborns and Adults Across India

2019 ◽  
Vol 153 (1) ◽  
pp. 82-87 ◽  
Author(s):  
Malay B Mukherjee ◽  
Roshan B Colah ◽  
Pallavi R Mehta ◽  
Nikhil Shinde ◽  
Dipty Jain ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
High Performance ◽  
Screening Program ◽  
Point Of Care ◽  
Genetic Disorder ◽  
Cell Disease ◽  
Point Of Care Test ◽  
Tribal Areas

Abstract Objectives Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. Methods The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. Results A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. Conclusions We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

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