scholarly journals Evaluation of high performance liquid chromatography (HPLC) pattern and prevalence of beta-thalassaemia trait among sickle cell disease patients in Lagos, Nigeria

2014 ◽  
Vol 18 ◽  
Author(s):  
Titilope Adeyemo ◽  
Oyesola Ojewunmi ◽  
Ajoke Oyetunji
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Cell Disease ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait

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 Student screening for inherited blood disorders in Bahrain

2021 ◽  
Vol 9 (3) ◽  
pp. 344-352
Author(s):  
S. Al Arrayed ◽  
N. Hafadh ◽  
S. Amin ◽  
H. Al Mukhareq ◽  
H. Sanad
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
G6pd Deficiency ◽  
High Performance ◽  
Sickle Cell Trait ◽  
Disease Incidence ◽  
Cell Disease ◽  
Blood Disorders ◽  
Inherited Disorders ◽  
Beta Thalassaemia

In Bahrain and neighbouring countries inherited disorders of haemoglobin, i. e. sickle-cell disease, thalassaemias and glucose-6-phosphate dehydrogenase [G6PD] deficiency, are common. As part of the National Student Screening Project to determine the prevalence of genetic blood disorders and raise awareness among young Bahrainis, we screened 11th-grade students from 38 schools [5685 students], organized lectures and distributed information about these disorders. Haemoglobin electrophoresis, high performance liquid chromatography, blood grouping and G6PD deficiency testing were performed. Prevalences were: 1.2% sickle-cell disease; 13.8% sickle-cell trait; 0.09% beta-thalassaemia; 2.9% beta-thalassaemia trait; 23.2% G6PD deficiency; 1.9% G6PD deficiency carrier. Health education, carrier screening and premarital counselling remain the best ways to reduce disease incidence with potentially significant financial savings and social and health benefits

scholarly journals Premarital counselling: an experience from Bahrain

1997 ◽  
Vol 3 (3) ◽  
pp. 415-419
Author(s):  
Shaikha Salim Al Arrayed ◽  
Nada Hafadh ◽  
Samera Al Serafi
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Dehydrogenase Deficiency ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait ◽  
Analyse Data ◽  
Glucose 6 Phosphate Dehydrogenase

The present study was conducted to analyse data of the first 500 clients who voluntarily attended premarital counselling during 1993-1994. It was found that 74.1% of clients were not related to their partner, 23.2% were first cousins and 1.5% were second cousins;the rest were distant relatives. Sickle-cell disease was found in 1.6% of clients, sickle-cell trait in 13.0%, beta-thalassaemia trait in 2.0% and glucose-6-phosphate dehydrogenase deficiency in 26.0%. Of the couples attending counselling, 8.1% were found to be at risk of having affected offspring. The consanguinity rate among the couples at risk was 15.4%

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.

Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings

2014 ◽  
Vol 52 (12) ◽  
Author(s):  
Dipti S. Upadhye ◽  
Dipty L. Jain ◽  
Yogesh L. Trivedi ◽  
Anita H. Nadkarni ◽  
Kanjaksha Ghosh ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Newborn Screening ◽  
Sickle Cell ◽  
High Performance ◽  
Diagnostic Utility ◽  
Gene Deletions ◽  
Major Health ◽  
Sickle Cell Disorders ◽  
Normal Baby

AbstractSickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India.Newborn babies of sickle heterozygous mothers were tested by HPLC using two different kits, the β-thal short kit, which is routinely used for screening for haemoglobinopathies in most laboratories, and the sickle cell short kit which is specific only for neonatal samples. Confirmation of the sickle and α genotypes was done by molecular analysis.Of the 601 babies tested, 276 were normal, 284 were sickle heterozygous and 41 were sickle homozygous using the β-thal short kit. Using the sickle cell short kit, a discrepancy was seen in one newborn sample where a normal baby was identified as a sickle heterozygous baby. α-Genotyping was done in 42 babies and 16 of them had α gene deletions. The presence of α thalassaemia could be suspected in 15 of these 16 babies based on a spike at the start of the chromatogram using the β-thal short kit. In comparison, using the sickle cell short kit the diagnosis of α thalassaemia was difficult based on the percentage of the FAST peak. Further, other rare α chain Hb variants were also missed.The β-thal short kit was more versatile than the sickle cell short kit for screening for haemoglobinopathies in newborns in our population.

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