Pranav Shrestha , Hendrik Lohse , Christopher Bhatla , Heather McCartney , Alaa Alzaki , Navdeep Sandhu , Pardip Kumar Oli , Sanjeev Chaudhary , Ali Amid , Rodrigo Onell , Nicholas Au , Hayley Merkeley , Videsh Kapoor , Rajan Pande , Boris Stoeber
{"title":"评估检测镰状细胞病和β-地中海贫血的低成本技术：一项开放标签、国际、多中心研究","authors":"Pranav Shrestha , Hendrik Lohse , Christopher Bhatla , Heather McCartney , Alaa Alzaki , Navdeep Sandhu , Pardip Kumar Oli , Sanjeev Chaudhary , Ali Amid , Rodrigo Onell , Nicholas Au , Hayley Merkeley , Videsh Kapoor , Rajan Pande , Boris Stoeber","doi":"10.1016/j.lansea.2025.100571","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Sickle cell disease (SCD) persists as a major global health problem, disproportionately affecting children in low- and middle-income countries (LMIC). Accurate and low-cost point-of-care techniques are urgently needed in LMIC to detect carrier or disease forms with haemoglobin S (HbS) and other variants like β-thalassemia.</div></div><div><h3>Methods</h3><div>An open-label, international, multicentre study was conducted at clinical sites in Nepal and Canada. Blood samples were collected from healthy volunteers (HbAA) and participants with known haemoglobinopathies (HbA/β-thalassemia, HbAS, HbS/β-thalassemia, HbSS). The performance of six low-cost tests (Conventional sickling test; HbS solubility test; HemoTypeSC; Sickle SCAN; Gazelle Hb variant test; Automated sickling test using automated microscopy and machine learning) was evaluated against HPLC (<span><span>ClinicalTrials.gov</span><svg><path></path></svg></span> Identifier: <span><span>NCT05506358</span><svg><path></path></svg></span>).</div></div><div><h3>Findings</h3><div>Between September 2022 and March 2023, we enrolled 138 participants (aged 2–74 years; 59% female, 41% male) at clinical sites in Nepal and Canada. Four low-cost tests (HemoTypeSC, Sickle SCAN, Gazelle, and automated sickling), which could identify phenotypes, detected severe SCD (HbSS, HbS/β-thalassemia) accurately (sensitivity >96%; specificity >99%). In contrast, for carrier forms, HemotypeSC and Sickle SCAN only detected HbAS (sensitivity >97%; specificity 100%) and not HbA/β-thalassemia (sensitivity 0%; specificity 100%), while Gazelle detected HbAS (sensitivity 100%, specificity 100%) and HbA/β-thalassemia (sensitivity 91%, specificity 99%), and automated sickling test detected both trait conditions (HbAS and HbA/β-thalassemia; sensitivity 85%, specificity 85%).</div></div><div><h3>Interpretation</h3><div>When HbS co-exists with β-thalassemia, Gazelle and automated sickling test accurately identify severe SCD and carrier forms. However, HemotypeSC and Sickle SCAN miss β-thalassemia trait, and need to be complemented with other low-cost tests.</div></div><div><h3>Funding</h3><div><span>UBC</span> <span>PSI</span>, <span>Canada Research Chairs</span>, <span>UBC</span> HIFI Awards, <span>UBC</span> 4YF, Naiman Vickars Endowment fund.</div></div>","PeriodicalId":75136,"journal":{"name":"The Lancet regional health. Southeast Asia","volume":"35 ","pages":"Article 100571"},"PeriodicalIF":6.2000,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Evaluation of low-cost techniques to detect sickle cell disease and β-thalassemia: an open-label, international, multicentre study\",\"authors\":\"Pranav Shrestha , Hendrik Lohse , Christopher Bhatla , Heather McCartney , Alaa Alzaki , Navdeep Sandhu , Pardip Kumar Oli , Sanjeev Chaudhary , Ali Amid , Rodrigo Onell , Nicholas Au , Hayley Merkeley , Videsh Kapoor , Rajan Pande , Boris Stoeber\",\"doi\":\"10.1016/j.lansea.2025.100571\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Sickle cell disease (SCD) persists as a major global health problem, disproportionately affecting children in low- and middle-income countries (LMIC). Accurate and low-cost point-of-care techniques are urgently needed in LMIC to detect carrier or disease forms with haemoglobin S (HbS) and other variants like β-thalassemia.</div></div><div><h3>Methods</h3><div>An open-label, international, multicentre study was conducted at clinical sites in Nepal and Canada. Blood samples were collected from healthy volunteers (HbAA) and participants with known haemoglobinopathies (HbA/β-thalassemia, HbAS, HbS/β-thalassemia, HbSS). The performance of six low-cost tests (Conventional sickling test; HbS solubility test; HemoTypeSC; Sickle SCAN; Gazelle Hb variant test; Automated sickling test using automated microscopy and machine learning) was evaluated against HPLC (<span><span>ClinicalTrials.gov</span><svg><path></path></svg></span> Identifier: <span><span>NCT05506358</span><svg><path></path></svg></span>).</div></div><div><h3>Findings</h3><div>Between September 2022 and March 2023, we enrolled 138 participants (aged 2–74 years; 59% female, 41% male) at clinical sites in Nepal and Canada. Four low-cost tests (HemoTypeSC, Sickle SCAN, Gazelle, and automated sickling), which could identify phenotypes, detected severe SCD (HbSS, HbS/β-thalassemia) accurately (sensitivity >96%; specificity >99%). In contrast, for carrier forms, HemotypeSC and Sickle SCAN only detected HbAS (sensitivity >97%; specificity 100%) and not HbA/β-thalassemia (sensitivity 0%; specificity 100%), while Gazelle detected HbAS (sensitivity 100%, specificity 100%) and HbA/β-thalassemia (sensitivity 91%, specificity 99%), and automated sickling test detected both trait conditions (HbAS and HbA/β-thalassemia; sensitivity 85%, specificity 85%).</div></div><div><h3>Interpretation</h3><div>When HbS co-exists with β-thalassemia, Gazelle and automated sickling test accurately identify severe SCD and carrier forms. However, HemotypeSC and Sickle SCAN miss β-thalassemia trait, and need to be complemented with other low-cost tests.</div></div><div><h3>Funding</h3><div><span>UBC</span> <span>PSI</span>, <span>Canada Research Chairs</span>, <span>UBC</span> HIFI Awards, <span>UBC</span> 4YF, Naiman Vickars Endowment fund.</div></div>\",\"PeriodicalId\":75136,\"journal\":{\"name\":\"The Lancet regional health. 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Evaluation of low-cost techniques to detect sickle cell disease and β-thalassemia: an open-label, international, multicentre study
Background
Sickle cell disease (SCD) persists as a major global health problem, disproportionately affecting children in low- and middle-income countries (LMIC). Accurate and low-cost point-of-care techniques are urgently needed in LMIC to detect carrier or disease forms with haemoglobin S (HbS) and other variants like β-thalassemia.
Methods
An open-label, international, multicentre study was conducted at clinical sites in Nepal and Canada. Blood samples were collected from healthy volunteers (HbAA) and participants with known haemoglobinopathies (HbA/β-thalassemia, HbAS, HbS/β-thalassemia, HbSS). The performance of six low-cost tests (Conventional sickling test; HbS solubility test; HemoTypeSC; Sickle SCAN; Gazelle Hb variant test; Automated sickling test using automated microscopy and machine learning) was evaluated against HPLC (ClinicalTrials.gov Identifier: NCT05506358).
Findings
Between September 2022 and March 2023, we enrolled 138 participants (aged 2–74 years; 59% female, 41% male) at clinical sites in Nepal and Canada. Four low-cost tests (HemoTypeSC, Sickle SCAN, Gazelle, and automated sickling), which could identify phenotypes, detected severe SCD (HbSS, HbS/β-thalassemia) accurately (sensitivity >96%; specificity >99%). In contrast, for carrier forms, HemotypeSC and Sickle SCAN only detected HbAS (sensitivity >97%; specificity 100%) and not HbA/β-thalassemia (sensitivity 0%; specificity 100%), while Gazelle detected HbAS (sensitivity 100%, specificity 100%) and HbA/β-thalassemia (sensitivity 91%, specificity 99%), and automated sickling test detected both trait conditions (HbAS and HbA/β-thalassemia; sensitivity 85%, specificity 85%).
Interpretation
When HbS co-exists with β-thalassemia, Gazelle and automated sickling test accurately identify severe SCD and carrier forms. However, HemotypeSC and Sickle SCAN miss β-thalassemia trait, and need to be complemented with other low-cost tests.
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