Casting light on the national mission to eliminate sickle cell disease in India

IF 7.6 2区 医学 Q1 HEMATOLOGY HemaSphere Pub Date : 2024-10-19 DOI:10.1002/hem3.70033
Frédéric B. Piel, Roshan Colah, Dipty L. Jain
{"title":"Casting light on the national mission to eliminate sickle cell disease in India","authors":"Frédéric B. Piel,&nbsp;Roshan Colah,&nbsp;Dipty L. Jain","doi":"10.1002/hem3.70033","DOIUrl":null,"url":null,"abstract":"<p>Sickle cell disease (SCD) is a neglected global public health burden.<span><sup>1</sup></span> Although it primarily affects populations from sub-Saharan Africa,<span><sup>2</sup></span> SCD is also prevalent across the Indian subcontinent, particularly among tribal (or scheduled) populations.<span><sup>3</sup></span> India is the most populated country in the world. According to the latest population estimates of the United Nations World Population Prospects,<span><sup>4</sup></span> its population includes 1.441 billion people, and it is expected to further increase to reach 1.697 billion in 2063. India ranks as the country with the third highest number of annual births affected by SCD, after Nigeria and the Democratic Republic of the Congo.<span><sup>2</sup></span> Although SCD has long been considered to be mild across the Indian subcontinent, recent evidence has demonstrated that there was a much wider range of severity than previously thought.<span><sup>5</sup></span> Finally, tribal populations tend to be largely over-represented in the low socio-economic groups across India, making them a vulnerable group for many communicable and non-communicable diseases.<span><sup>6</sup></span></p><p>Interventions to reduce SCD morbidity and mortality, such as newborn screening, vaccinations, penicillin prophylaxis, and hydroxyurea, have proven to be effective in large-scale studies in high- and upper-middle-income countries, including the United States,<span><sup>7</sup></span> United Kingdom,<span><sup>8</sup></span> Jamaica,<span><sup>9</sup></span> and Brazil.<span><sup>10</sup></span> Pilot studies of these interventions have been conducted in numerous low-income countries.<span><sup>11</sup></span> Cost-benefit analyses conducted in sub-Saharan Africa<span><sup>12</sup></span> and India<span><sup>13</sup></span> suggested that these interventions would also be effective in these settings. Nevertheless, due to a lack of political and financial commitments, no national program has so far been launched in a low- or lower-middle-income country of high prevalence for SCD. Despite the curative promises of gene therapies,<span><sup>14</sup></span> there is an urgent need to scale up interventions in the most affected countries to improve the quality of life of patients affected and reduce the global burden of SCD.<span><sup>11</sup></span></p><p>In July 2023, the Government of India launched the “National Sickle Cell Anaemia Elimination Mission.”<span><sup>15</sup></span> Although this program was officially launched by Prime Minister Modi, it did not receive much attention internationally. The stated aims of the Mission are twofold: (i) to improve the care of all SCD patients for their better future and (ii) to lower the prevalence of the disease by 2047 through a multifaceted coordinated approach toward screening and awareness strategies. The ambitious plan at launch was to screen 70 million people across India over the first 3 years of the Mission. The screening was at first intended to target primarily 0–18-year-olds, before incrementally including individuals up to 40 years of age.</p><p>Screening methods recommended for the Mission are either the solubility sickling test, with positive cases to be confirmed by gold-standard high-performance liquid chromatography (HPLC), or rapid point-of-care testing (POCT) devices which have emerged in the last decade. The solubility test does not allow for differentiation between homozygotes (SS), with SCD, and heterozygotes (AS), with sickle cell trait (SCT). Moreover, it suffers from a high rate of false negatives when utilized for newborn screening due to the presence of a high amount of fetal hemoglobin (HbF) and when HbS represents less than 10% of the total hemoglobin. As a result, in high-income countries, the solubility test tends to be used only for emergency screening. HPLC validation tends to be expensive and relies on highly skilled staff, sophisticated equipment requiring regular maintenance, and available reagents. It is therefore possible that confirmatory tests are not systematically conducted to validate results from the solubility sickling test. POCT devices potentially offer a promising alternative, particularly outside large cities. Best practices currently recommend positive POCT tests to be validated by a laboratory method, such as HPLC or electrophoresis.<span><sup>16</sup></span> Current POCTs can usually differentiate between SCD and SCT, but they cannot identify sickle cell—β thalassemia. Recent developments of the Gazelle<sup>TM</sup> device aim to address this limitation.<span><sup>17</sup></span> The sensitivity and specificity of some POCT devices, such as SickleScan<sup>TM</sup> or HemoTypeSC<sup>TM</sup>, have been validated in rigorous national<span><sup>18, 19</sup></span> and international studies.<span><sup>20</sup></span> To be self-reliant and reduce costs, devices used for the Mission are primarily manufactured in India. Although several screening methods have been officially validated by the Indian Council of Medical Research (ICMR), the sample sizes were relatively small and several tests have a claimed sensitivity and specificity of 100%. There is an urgent need for independent validation of these methods, and of POCT devices, in particular, using internationally recognized standard protocols.</p><p>The Mission has driven substantial national initiatives to produce POCT devices locally, at much lower costs than products currently on the market anywhere in the world. Given that people identified with SCD need to be managed, a similar impact has been observed for the local production of hydroxyurea, the main drug currently used to prevent complications in SCD. If confirmed reliable and potent, these efforts could have major implications for the future of screening and managing SCD globally and across sub-Saharan Africa in particular.</p><p>Daily screening data from the Mission are freely available in an online dashboard.<span><sup>21</sup></span> As of September 17, 2024, a total of 42,139,843 individuals have been screened across India, with 163,765 identified as SCD (0.39%) and 1,144,274 as SCT (2.72%) (Table 1). Confirmation of the screening results was shown as still under process for another 398,628 tests (0.95%). The dashboard does not provide a regional or ethnic breakdown, but these preliminary data provide valuable insights into the scale of the Mission in India.<span><sup>22</sup></span> Just over 1 year after its launch, the Mission has already screened more than 42 million people. For comparison, this is more than 10 times the annual number of babies tested as part of the universal newborn screening program in the United States (~3.6 million) and 70 times that number in the United Kingdom (~600,000). The scale of this initiative means that, on average, almost four hundred new cases of SCD are potentially identified every day by the Mission. This is roughly equivalent to the number of new births affected identified over a year in the United Kingdom. In addition, about 2500 carriers are also identified daily. Although these individuals are not of concern from a clinical perspective, they are highly relevant to the future burden of SCD and should be informed about the disease and offered premarital screening<span><sup>23</sup></span> and genetic counseling.<span><sup>24</sup></span></p><p>Data from the Mission suggest an allele frequency of 1.76%, which is slightly lower than previous national-level estimates.<span><sup>22</sup></span> Using this frequency and the generic assumptions of the Hardy–Weinberg Equilibrium (HWE),<span><sup>25</sup></span> the expected number of individuals with SCD (12,974) would be almost 12-fold smaller than the one observed (163,765). Surveys of adults in sub-Saharan Africa tend to find much fewer people with SCD than expected due to the high infant mortality associated with SCD.<span><sup>26</sup></span> Although the difference between the observed and the expected seen in India is likely to be due to a complex range of factors, there is a high level of consanguinity in India and in tribal populations, in particular.<span><sup>27</sup></span> The dashboard data suggest an inbreeding coefficient (<i>F</i>)—a standard measure of consanguinity in clinical genetics—of 0.021, which is consistent with previous studies.<span><sup>28</sup></span> Although preliminary data from the Mission suggest that preventing consanguineous marriages alone could potentially result in dramatic reductions in the annual number of SCD births across India. This would also impact the prevalence of various other health outcomes including congenital anomalies. This observation raises important ethical issues around the role of genetic counseling and prenatal diagnosis in India.<span><sup>29</sup></span> Furthermore, it is essential to understand cultural practices and traditions across such a large and diverse country, particularly when considering tribal populations which are often marginalized and over-represented in the lower socio-economic status groups. Evidence from the Pakistani communities in the United Kingdom suggests that changes tend to occur slowly, over generations, even in multi-ethnic communities outside their country of origin.<span><sup>30</sup></span> Similarly, the compulsory programs implemented in Saudi Arabia highlight the complexity of such interventions in a country with a much smaller population and substantial financial resources.<span><sup>31</sup></span></p><p>Screening is a necessary first step to identify patients with SCD and to manage them and their complications. It is nevertheless essential that the education material, healthcare facilities, specialist staff, and treatment options are available and accessible to all to successfully follow up with individuals identified with SCD and ideally carriers too. Several guidelines and training materials have been produced in Hindi and English as part of the Mission,<span><sup>32</sup></span> but little information is currently available on their use. No data is publicly available yet on the impact of the Mission, but it will be key to its success to track follow-up rate, uptake of hydroxyurea, and changes in the frequency of complications and the perception of the disease as a result of this national initiative. Reliable data will be essential to demonstrate the benefits and ensure the sustainability of the Mission. Only 5% of the total population of India would have been screened after the first 3 years of the Mission. There are about 25 million births per year across India, so it would require a sustained effort over the entire country to achieve a universal newborn screening program equivalent to those currently in place in the United States or the United Kingdom. If this is the long-term objective, this will require sustained political will and financial resources.</p><p>The vocabulary used in such a large-scale initiative is important and needs to be carefully considered. The term “elimination” used for this Mission is reminiscent of ambitious strategies used for infectious diseases, including malaria.<span><sup>33</sup></span> Considering the genetic nature of SCD, this terminology is unfortunate. The Mission should be used as an opportunity to reduce inequalities affecting the populations of India and to reduce the future burden of SCD across the subcontinent, rather than to further stigmatize tribal populations or to potentially feed eugenics propaganda.</p><p>In conclusion, our aim here is to highlight both the scale of this initiative and the need for reliable data to monitor its acceptability and impact. It is remarkable that a program of such a scale could be implemented so quickly across a country so large and populated as India. More than 40 million individuals screened in just over 1 year for a largely neglected disease is a considerable achievement and this should be celebrated. Nevertheless, rigorous processes need to be in place to ensure that screening devices and protocols meet international standards and that guidelines are consistently followed across the country so that high-quality epidemiological data are generated. The national and international credibility of the Mission relies on reliable data. Cost-benefit analyses will also need to be conducted to demonstrate the impact of this initiative. Finally, the success of this Mission could have significant implications to demonstrate the feasibility of implementing large-scale programs on SCD in sub-Saharan African countries.</p><p>Frédéric B. Piel wrote the first draft of the manuscript. Frédéric B. Piel collected data and performed statistical analysis. Frédéric B. Piel, Roshan Colah, and Dipty L. Jain all reviewed the manuscript.</p><p>The authors declare no conflict of interest.</p><p>Frédéric B. 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Abstract

Sickle cell disease (SCD) is a neglected global public health burden.1 Although it primarily affects populations from sub-Saharan Africa,2 SCD is also prevalent across the Indian subcontinent, particularly among tribal (or scheduled) populations.3 India is the most populated country in the world. According to the latest population estimates of the United Nations World Population Prospects,4 its population includes 1.441 billion people, and it is expected to further increase to reach 1.697 billion in 2063. India ranks as the country with the third highest number of annual births affected by SCD, after Nigeria and the Democratic Republic of the Congo.2 Although SCD has long been considered to be mild across the Indian subcontinent, recent evidence has demonstrated that there was a much wider range of severity than previously thought.5 Finally, tribal populations tend to be largely over-represented in the low socio-economic groups across India, making them a vulnerable group for many communicable and non-communicable diseases.6

Interventions to reduce SCD morbidity and mortality, such as newborn screening, vaccinations, penicillin prophylaxis, and hydroxyurea, have proven to be effective in large-scale studies in high- and upper-middle-income countries, including the United States,7 United Kingdom,8 Jamaica,9 and Brazil.10 Pilot studies of these interventions have been conducted in numerous low-income countries.11 Cost-benefit analyses conducted in sub-Saharan Africa12 and India13 suggested that these interventions would also be effective in these settings. Nevertheless, due to a lack of political and financial commitments, no national program has so far been launched in a low- or lower-middle-income country of high prevalence for SCD. Despite the curative promises of gene therapies,14 there is an urgent need to scale up interventions in the most affected countries to improve the quality of life of patients affected and reduce the global burden of SCD.11

In July 2023, the Government of India launched the “National Sickle Cell Anaemia Elimination Mission.”15 Although this program was officially launched by Prime Minister Modi, it did not receive much attention internationally. The stated aims of the Mission are twofold: (i) to improve the care of all SCD patients for their better future and (ii) to lower the prevalence of the disease by 2047 through a multifaceted coordinated approach toward screening and awareness strategies. The ambitious plan at launch was to screen 70 million people across India over the first 3 years of the Mission. The screening was at first intended to target primarily 0–18-year-olds, before incrementally including individuals up to 40 years of age.

Screening methods recommended for the Mission are either the solubility sickling test, with positive cases to be confirmed by gold-standard high-performance liquid chromatography (HPLC), or rapid point-of-care testing (POCT) devices which have emerged in the last decade. The solubility test does not allow for differentiation between homozygotes (SS), with SCD, and heterozygotes (AS), with sickle cell trait (SCT). Moreover, it suffers from a high rate of false negatives when utilized for newborn screening due to the presence of a high amount of fetal hemoglobin (HbF) and when HbS represents less than 10% of the total hemoglobin. As a result, in high-income countries, the solubility test tends to be used only for emergency screening. HPLC validation tends to be expensive and relies on highly skilled staff, sophisticated equipment requiring regular maintenance, and available reagents. It is therefore possible that confirmatory tests are not systematically conducted to validate results from the solubility sickling test. POCT devices potentially offer a promising alternative, particularly outside large cities. Best practices currently recommend positive POCT tests to be validated by a laboratory method, such as HPLC or electrophoresis.16 Current POCTs can usually differentiate between SCD and SCT, but they cannot identify sickle cell—β thalassemia. Recent developments of the GazelleTM device aim to address this limitation.17 The sensitivity and specificity of some POCT devices, such as SickleScanTM or HemoTypeSCTM, have been validated in rigorous national18, 19 and international studies.20 To be self-reliant and reduce costs, devices used for the Mission are primarily manufactured in India. Although several screening methods have been officially validated by the Indian Council of Medical Research (ICMR), the sample sizes were relatively small and several tests have a claimed sensitivity and specificity of 100%. There is an urgent need for independent validation of these methods, and of POCT devices, in particular, using internationally recognized standard protocols.

The Mission has driven substantial national initiatives to produce POCT devices locally, at much lower costs than products currently on the market anywhere in the world. Given that people identified with SCD need to be managed, a similar impact has been observed for the local production of hydroxyurea, the main drug currently used to prevent complications in SCD. If confirmed reliable and potent, these efforts could have major implications for the future of screening and managing SCD globally and across sub-Saharan Africa in particular.

Daily screening data from the Mission are freely available in an online dashboard.21 As of September 17, 2024, a total of 42,139,843 individuals have been screened across India, with 163,765 identified as SCD (0.39%) and 1,144,274 as SCT (2.72%) (Table 1). Confirmation of the screening results was shown as still under process for another 398,628 tests (0.95%). The dashboard does not provide a regional or ethnic breakdown, but these preliminary data provide valuable insights into the scale of the Mission in India.22 Just over 1 year after its launch, the Mission has already screened more than 42 million people. For comparison, this is more than 10 times the annual number of babies tested as part of the universal newborn screening program in the United States (~3.6 million) and 70 times that number in the United Kingdom (~600,000). The scale of this initiative means that, on average, almost four hundred new cases of SCD are potentially identified every day by the Mission. This is roughly equivalent to the number of new births affected identified over a year in the United Kingdom. In addition, about 2500 carriers are also identified daily. Although these individuals are not of concern from a clinical perspective, they are highly relevant to the future burden of SCD and should be informed about the disease and offered premarital screening23 and genetic counseling.24

Data from the Mission suggest an allele frequency of 1.76%, which is slightly lower than previous national-level estimates.22 Using this frequency and the generic assumptions of the Hardy–Weinberg Equilibrium (HWE),25 the expected number of individuals with SCD (12,974) would be almost 12-fold smaller than the one observed (163,765). Surveys of adults in sub-Saharan Africa tend to find much fewer people with SCD than expected due to the high infant mortality associated with SCD.26 Although the difference between the observed and the expected seen in India is likely to be due to a complex range of factors, there is a high level of consanguinity in India and in tribal populations, in particular.27 The dashboard data suggest an inbreeding coefficient (F)—a standard measure of consanguinity in clinical genetics—of 0.021, which is consistent with previous studies.28 Although preliminary data from the Mission suggest that preventing consanguineous marriages alone could potentially result in dramatic reductions in the annual number of SCD births across India. This would also impact the prevalence of various other health outcomes including congenital anomalies. This observation raises important ethical issues around the role of genetic counseling and prenatal diagnosis in India.29 Furthermore, it is essential to understand cultural practices and traditions across such a large and diverse country, particularly when considering tribal populations which are often marginalized and over-represented in the lower socio-economic status groups. Evidence from the Pakistani communities in the United Kingdom suggests that changes tend to occur slowly, over generations, even in multi-ethnic communities outside their country of origin.30 Similarly, the compulsory programs implemented in Saudi Arabia highlight the complexity of such interventions in a country with a much smaller population and substantial financial resources.31

Screening is a necessary first step to identify patients with SCD and to manage them and their complications. It is nevertheless essential that the education material, healthcare facilities, specialist staff, and treatment options are available and accessible to all to successfully follow up with individuals identified with SCD and ideally carriers too. Several guidelines and training materials have been produced in Hindi and English as part of the Mission,32 but little information is currently available on their use. No data is publicly available yet on the impact of the Mission, but it will be key to its success to track follow-up rate, uptake of hydroxyurea, and changes in the frequency of complications and the perception of the disease as a result of this national initiative. Reliable data will be essential to demonstrate the benefits and ensure the sustainability of the Mission. Only 5% of the total population of India would have been screened after the first 3 years of the Mission. There are about 25 million births per year across India, so it would require a sustained effort over the entire country to achieve a universal newborn screening program equivalent to those currently in place in the United States or the United Kingdom. If this is the long-term objective, this will require sustained political will and financial resources.

The vocabulary used in such a large-scale initiative is important and needs to be carefully considered. The term “elimination” used for this Mission is reminiscent of ambitious strategies used for infectious diseases, including malaria.33 Considering the genetic nature of SCD, this terminology is unfortunate. The Mission should be used as an opportunity to reduce inequalities affecting the populations of India and to reduce the future burden of SCD across the subcontinent, rather than to further stigmatize tribal populations or to potentially feed eugenics propaganda.

In conclusion, our aim here is to highlight both the scale of this initiative and the need for reliable data to monitor its acceptability and impact. It is remarkable that a program of such a scale could be implemented so quickly across a country so large and populated as India. More than 40 million individuals screened in just over 1 year for a largely neglected disease is a considerable achievement and this should be celebrated. Nevertheless, rigorous processes need to be in place to ensure that screening devices and protocols meet international standards and that guidelines are consistently followed across the country so that high-quality epidemiological data are generated. The national and international credibility of the Mission relies on reliable data. Cost-benefit analyses will also need to be conducted to demonstrate the impact of this initiative. Finally, the success of this Mission could have significant implications to demonstrate the feasibility of implementing large-scale programs on SCD in sub-Saharan African countries.

Frédéric B. Piel wrote the first draft of the manuscript. Frédéric B. Piel collected data and performed statistical analysis. Frédéric B. Piel, Roshan Colah, and Dipty L. Jain all reviewed the manuscript.

The authors declare no conflict of interest.

Frédéric B. Piel acknowledges support from an Imperial-India Connect Fund award.

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揭示印度消除镰状细胞病的国家使命
镰状细胞病(SCD)是一种被忽视的全球公共卫生负担。1 虽然镰状细胞病主要影响撒哈拉以南非洲地区的人口,2 但它在印度次大陆也很普遍,尤其是在部落(或在册人口)中。3 印度是世界上人口最多的国家。根据联合国《世界人口展望》4 的最新人口估计,印度人口为 14.41 亿,预计到 2063 年将进一步增至 16.97 亿。2 虽然长期以来人们一直认为印度次大陆的 SCD 病情较轻,但最近的证据表明,其严重程度的范围比以前想象的要大得多。5 最后,印度各地的部落人口往往在社会经济地位较低的群体中占很大比例,这使他们成为许多传染性和非传染性疾病的易感人群。在美国、7 英国、8 牙买加9 和巴西10 等高收入和中上收入国家进行的大规模研究证明,新生儿筛查、疫苗接种、青霉素预防和羟基脲等降低 SCD 发病率和死亡率的干预措施是有效的。然而,由于缺乏政治和财政承诺,迄今为止还没有一个国家在 SCD 高发的低收入或中低收入国家启动国家计划。11 2023 年 7 月,印度政府启动了 "消除镰状细胞性贫血国家使命"(National Sickle Cell Anaemia Elimination Mission)15 。尽管该计划由莫迪总理正式启动,但在国际上并未引起广泛关注。该计划的既定目标有两个:(i) 改善对所有镰状细胞性贫血患者的护理,让他们拥有更美好的未来;(ii) 到 2047 年,通过多方面协调的筛查和宣传策略,降低该疾病的患病率。启动之初的雄心勃勃的计划是在该计划的头 3 年对全印度 7000 万人进行筛查。该计划推荐的筛查方法是溶解度镰状试验(阳性病例需经黄金标准高效液相色谱法(HPLC)确认)或近十年来出现的快速护理点检测(POCT)设备。溶解度检测无法区分镰状细胞性病(SCD)的同基因型患者(SS)和镰状细胞性状(SCT)的异基因型患者(AS)。此外,在用于新生儿筛查时,由于存在大量胎儿血红蛋白(HbF),当 HbS 占总血红蛋白的比例低于 10%时,假阴性率很高。因此,在高收入国家,溶解度检测往往只用于紧急筛查。高效液相色谱法(HPLC)验证往往成本高昂,依赖于技术精湛的工作人员、需要定期维护的精密设备和可用试剂。因此,可能没有系统地进行确证试验来验证溶解度镰状试验的结果。POCT 设备有可能提供一种有前途的替代方法,尤其是在大城市以外的地区。16 目前的 POCT 通常可以区分 SCD 和 SCT,但不能鉴别镰状细胞-β地中海贫血。最近开发的 GazelleTM 设备旨在解决这一局限性。17 一些 POCT 设备(如 SickleScanTM 或 HemoTypeSCTM)的灵敏度和特异性已在严格的国内18、19 和国际研究中得到验证。虽然印度医学研究理事会 (ICMR) 已对几种筛查方法进行了正式验证,但样本量相对较小,而且有几种检测方法声称其敏感性和特异性均为 100%。目前迫切需要采用国际公认的标准协议对这些方法进行独立验证,特别是对 POCT 设备进行独立验证。 鉴于已确认的 SCD 患者需要接受治疗,在当地生产羟基脲(目前用于预防 SCD 并发症的主要药物)也产生了类似的影响。截至 2024 年 9 月 17 日,印度全国共筛查了 42,139,843 人,其中 163,765 人被确定为 SCD(0.39%),1,144,274 人被确定为 SCT(2.72%)(表 1)。另有 398,628 人(0.95%)的筛查结果显示仍在确认过程中。该仪表板没有提供地区或种族细分,但这些初步数据为了解该计划在印度的规模提供了宝贵的信息。22 该计划启动仅 1 年多,筛查人数已超过 4200 万。相比之下,这一数字是美国新生儿普遍筛查计划每年检测人数(约 360 万)的 10 倍以上,是英国新生儿普遍筛查计划每年检测人数(约 60 万)的 70 倍。这项计划的规模意味着,平均每天都有将近 400 例新的 SCD 病例可能被特派团发现。这大致相当于英国一年中新发现的受影响新生儿数量。此外,每天还能发现约 2500 名携带者。虽然从临床角度来看,这些人并不值得关注,但他们与 SCD 的未来负担密切相关,因此应向他们介绍该疾病,并为他们提供婚前筛查23 和遗传咨询24。对撒哈拉以南非洲成人的调查发现,由于与 SCD 相关的婴儿死亡率较高,SCD 患者的人数往往比预期的要少得多。26 虽然在印度观察到的与预期的人数之间的差异可能是由一系列复杂的因素造成的,但在印度,尤其是在部落人群中,近亲结婚的程度很高。28 尽管调查团的初步数据表明,单单预防近亲结婚就有可能使印度每年的 SCD 新生儿人数大幅减少。这也将影响包括先天性畸形在内的其他各种健康后果的发生率。29 此外,在这样一个幅员辽阔、文化多样的国家,了解文化习俗和传统至关重要,尤其是在考虑到部落人口时,他们往往被边缘化,在社会经济地位较低的群体中所占比例过高。来自英国巴基斯坦社区的证据表明,即使是在原籍国以外的多民族社区,变化也往往是几代人慢慢发生的。30 同样,沙特阿拉伯实施的强制计划也凸显了在一个人口少得多且财力雄厚的国家采取此类干预措施的复杂性。31 筛查是识别 SCD 患者并管理他们及其并发症的必要第一步。31 筛查是识别 SCD 患者并处理他们及其并发症的必要的第一步。然而,教育材料、医疗保健设施、专科人员和治疗方案的可获得性和可及性对于成功随访已识别的 SCD 患者以及理想情况下的携带者也是至关重要的。作为 "使命 "的一部分,已经用印地语和英语编写了几份指南和培训材料32 ,但目前有关其使用情况的信息很少。目前还没有关于该计划影响的公开数据,但跟踪随访率、羟基脲的使用情况、并发症发生率的变化以及对该疾病的认识是否因这一全国性举措而有所改变,将是该计划能否取得成功的关键。可靠的数据对于证明该计划的益处和确保其可持续性至关重要。在该计划实施的头 3 年,印度只有 5%的人口接受了筛查。印度全国每年约有 2500 万新生儿,因此需要在全国范围内持续努力,才能实现与美国或英国目前实施的新生儿筛查计划相当的普及计划。 如果这是长期目标,就需要持续的政治意愿和财政资源。在这样一个大规模倡议中使用的词汇非常重要,需要仔细斟酌。这项任务中使用的 "消除 "一词让人联想到用于包括疟疾在内的传染病的雄心勃勃的战略。33 考虑到 SCD 的遗传性质,这一术语是令人遗憾的。应将该计划作为一个契机,以减少影响印度人口的不平等现象,并减轻整个次大陆未来的 SCD 负担,而不是进一步污名化部落人口或可能助长优生学宣传。在印度这样一个幅员辽阔、人口众多的国家,能够如此迅速地实施如此大规模的计划,实在令人惊叹。在短短一年多的时间里,就有 4000 多万人接受了筛查,治疗一种在很大程度上被忽视的疾病,这是一项了不起的成就,值得庆祝。然而,还需要制定严格的程序,以确保筛查设备和方案符合国际标准,并在全国范围内始终如一地遵循指导方针,从而产生高质量的流行病学数据。特派团在国内和国际上的公信力有赖于可靠的数据。还需要进行成本效益分析,以证明这一举措的影响。最后,这项任务的成功对于证明在撒哈拉以南非洲国家实施大规模 SCD 计划的可行性具有重要意义。Frédéric B. Piel 收集数据并进行统计分析。Frédéric B. Piel、Roshan Colah 和 Dipty L. Jain 均审阅了手稿。作者声明无利益冲突。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
HemaSphere
HemaSphere Medicine-Hematology
CiteScore
6.10
自引率
4.50%
发文量
2776
审稿时长
7 weeks
期刊介绍: HemaSphere, as a publication, is dedicated to disseminating the outcomes of profoundly pertinent basic, translational, and clinical research endeavors within the field of hematology. The journal actively seeks robust studies that unveil novel discoveries with significant ramifications for hematology. In addition to original research, HemaSphere features review articles and guideline articles that furnish lucid synopses and discussions of emerging developments, along with recommendations for patient care. Positioned as the foremost resource in hematology, HemaSphere augments its offerings with specialized sections like HemaTopics and HemaPolicy. These segments engender insightful dialogues covering a spectrum of hematology-related topics, including digestible summaries of pivotal articles, updates on new therapies, deliberations on European policy matters, and other noteworthy news items within the field. Steering the course of HemaSphere are Editor in Chief Jan Cools and Deputy Editor in Chief Claire Harrison, alongside the guidance of an esteemed Editorial Board comprising international luminaries in both research and clinical realms, each representing diverse areas of hematologic expertise.
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