scholarly journals Maternal solubility test and high performance liquid chromatography of newborns in combination as a better neonatal screening protocol for sickle cell disease

2016 ◽  
Vol 4 (6) ◽  
pp. 999-1004
Author(s):  
Dr. Sharja Phuljhele ◽  
◽  
Dr. Ramnani K. ◽  
Dr. S. Hiwale ◽  
Dr. Priyanka Pruthviraj Ramteke ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
High Performance ◽  
Cell Disease ◽  
Solubility Test ◽  
Screening Protocol

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.

scholarly journals First case of  -thalassemia in association with a  S allele: a pitfall in the neonatal screening for sickle cell disease

Haematologica ◽  
2008 ◽  
Vol 93 (11) ◽  
pp. 1754-1755 ◽  
Author(s):  
C. Lacoste ◽  
N. Bonello-Palot ◽  
K. Gonnet ◽  
F. Merono ◽  
N. Levy ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
Cell Disease ◽  
First Case ◽  
S Allele

scholarly journals The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

2019 ◽  
Vol 5 (1) ◽  
pp. 11 ◽  
Author(s):  
Ana Silva-Pinto ◽  
Maria Alencar de Queiroz ◽  
Paula Antoniazzo Zamaro ◽  
Miranete Arruda ◽  
Helena Pimentel dos Santos
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Health Care Professionals ◽  
Neonatal Screening ◽  
Screening Program ◽  
Cell Disease ◽  
Ministry Of Health ◽  
Basic Care ◽  
Main Challenge ◽  
Neonatal Screening Program

Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease (SCD) and other hemoglobinopathies. In 2005, the program coverage reached 80% of the total live births. Since then, it has oscillated between 80% and 84% globally with disparities from one state to another (>95% in São Paulo State). The Ministry of Health has also published several Guidelines for clinical follow-up and treatment for the diseases comprised by the neonatal screening program. The main challenge was, and still is, to organize the public health network (SUS), from diagnosis and basic care to reference centers in order to provide comprehensive care for patients diagnosed by neonatal screening, especially for SCD patients. Considerable gains have already been achieved, including the implementation of a network within SUS and the addition of scientific and technological progress to treatment protocols. The goals for the care of SCD patients are the intensification of information provided to health care professionals and patients, measures to prevent complications, and care and health promotion, considering these patients in a global and integrated way, to reduce mortality and enhance their quality of life.

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.

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