Systematic point‐of‐care newborn screening for sickle cell disease in rural Mali, West Africa

Summary

Sickle cell disease (SCD) is a leading cause of under‐five mortality in sub‐Saharan Africa (SSA), yet newborn screening in rural settings remains scarce. We evaluated the feasibility, coverage and yield of a point‐of‐care (POC) screening programme at Koutiala Hospital for Women and Children (KHWC) in rural Mali, using HemotypeSC™. From March 2019 to 2025, newborns born at KHWC were offered POC screening within 24 h of birth. Heel‐stick blood was applied to the HemotypeSC™ strip and results were read at 10 min. Culturally sensitive education was provided to all, and newborns with SCD were enrolled in the hospital's sickle cell programme for clinical management. Screening coverage, haemoglobin subtypes and carrier prevalence were calculated descriptively. Over 6 years, 18 164 newborns were delivered, with 18 015 (99.2%) successfully screened. We identified 118 haemoglobin SS (HbSS) (0.66%), 123 haemoglobin SC (HbSC) (0.68%) and 79 haemoglobin CC (HbCC) (0.44%). The prevalence of SCD (HbSS+HbSC) was 1.34%, with carrier frequencies of 8.89% for haemoglobin AS (HbAS) and 8.68% for haemoglobin AC(HbAC) (17.56% overall). Screening with HemotypeSC™ achieved near universal coverage in a high‐volume rural hospital, identifying substantial SCD and carrier burdens. This model supports scale‐up across rural SSA to bridge diagnostic gaps and link newborns to life‐saving care.

INTRODUCTION

Sickle cell disease (SCD), characterized by the production of abnormal haemoglobin S leading to chronic haemolytic anaemia and vaso‐occlusive complications, is the most common inherited disorder of the red blood cell in sub‐Saharan Africa (SSA), contributing up to 10% of under five mortality without early diagnosis and intervention. ¹ , ² Although rural regions bear a disproportionate share of this burden, existing pilot screening programmes have focused on urban tertiary centres across West Africa to improve outcomes through linkage to care (Table 1).

TABLE 1.

West African sickle cell disease screening results from urban locations with HPLC confirmation.

Subtype	Benin		Burkina Faso		Côte d'Ivoire		Mali		Nigeria
	Gomez et al. (2024) 7		Sawadogo et al. (2022) 3		Danho et al. (2021) 4		Guindo et al. (2024) 5		Galadanci et al. (2024) 8
	n = 2880	%	n = 11 330	%	n = 236	%	n = 3645	%	n = 7221	%
HbAA	1737	59.7	8261	72.9	201	85.2	2859	78.2	5492	72.9
HbAS	632	21.7	890	7.8	26	11.2	408	11.2	1546	20.5
HbAC	297	10.2	1845	16.3	6	2.4	316	8.7	57	0.8
HbSS	91	3.1	60	0.5	2	0.8	23	0.6	118	1.2
HbSC	107	3.7	155	1.4	0	0.0	31	0.9	8	0.1
HbCC	16	0.5	119	1.0	1	0.4	8	0.2	0	0.0

In Burkina Faso, high‐performance liquid chromatography (HPLC)‐based screening of 11 337 newborns in Ouagadougou found SCD incidence of 1.9% and carrier prevalence of 24.1%. ³ A feasibility study in Côte d'Ivoire using immunoassay test HemoTypeSC™ found the prevalence of SCD to be 0.8% and a carrier frequency of 13.6%. ⁴ In Bamako, the urban capital of Mali, laboratory‐based screening of 3655 newborns yielded SCD prevalence of 1.48% and carrier frequency of 19.84%. ⁵ Isoelectric focusing (IEF) screening in Ghana reported SCD prevalence of 1.76%, although carrier proportion remains unpublished. ⁶ HPLC testing in Benin observed a notably higher SCD prevalence of 6.8% and a carrier frequency of 31.9%, ⁷ and HPLC‐based screening in Nigeria revealed an SCD prevalence of 1.26% and carrier frequency of 21.3%. ⁸ These regional figures underscore the consistently high SCD burden across West Africa.

Point‐of‐care (POC) immunoassay tests have recently been developed to overcome the typical barriers of conventional screening programmes when attempting to adapt them to the rural setting. ⁹ , ¹⁰ , ¹¹ , ¹² These assays are stable at ambient temperature and require minimal training, thus opening the possibility of universal newborn screening of SCD in more remote areas with more limited resources. Additionally, they have been shown to be comparable to traditional methods—such as HPLC or IEF—in Lome, Togo and Bamako, Mali. ¹ , ⁵ , ⁶ , ¹³ Our study, carried out at Koutiala Hospital for Women and Children (KHWC), describes the first systematic, rural POC newborn screening programme for SCD in Mali.

MATERIALS AND METHODS

Study design and setting

This prospective implementation study was conducted in Mali at KHWC with cross‐sectional screening of all neonates born from March 2019 to 2025. Mali is a land‐locked West African country with a 2023 population of over 23 million and an annual birth rate of 39 per 1000 people. The country's under‐five mortality rate is 81 deaths per 1000 live births. ¹⁴ Koutiala is a rural, primarily agricultural region with an estimated population of 1.2 million and is located 392 km southeast of the nation's capital of Bamako. ¹⁵ KHWC delivers ∼3000 newborns annually and maintains a dedicated SCD follow‐up clinic that is managed by an advanced practice nurse under the supervision of the hospital medical director. The hospital laboratory has the capacity to run complete blood counts, basic metabolic panels, malaria screening and other routine tests. The hospital staff provides inpatient and outpatient medical and surgical treatment of women and children from the surrounding region. Whole blood transfusions are available when necessary for clinical management.

POC screening procedure

Within 24 h of birth, a heel‐stick drop of blood (1.0×10^‐6 L) was applied to the HemotypeSC™ blood sampling device (Silver Lake Research, Azusa, CA) and then was placed into a test vial with six drops of water. The test vial was then gently swirled until the water became pink or light red in colour. The HemotypeSC™ test strip was then placed into the test vial. The results for haemoglobin variants (A, S, C) were visually read after 10 min. In the event of an indeterminate result, the test was repeated and the results interpreted.

Implementation

The midwives at KHWC were responsible for compiling a list of births from the prior 24‐h period. This list was then used by laboratory personnel to perform the screening procedure on the identified newborns each morning. Of note, the screening protocol was approved by the institutional ethical review board for the hospital. Verbal maternal consent was obtained prior to screening in accordance with local practice. Following HemotypeSC™ screening, culturally sensitive genetic counselling was offered to anyone carrying S or C haemoglobin (trait) while those identified with SCD were added to the paediatric sickle cell programme for ongoing management.

Data collection and analysis

Births, screening uptake and genotype frequencies were recorded in a structured database. Prevalence was calculated based on all data collected over this 6‐year span.

Clinical care and follow‐up

Newborns were diagnosed with SCD if the screening result was haemoglobin SS (HbSS) or haemoglobin SC (HbSC). Those with HbSS were offered antibiotic prophylaxis against life‐threatening bacterial infection from 3 months of age until 5 years. Folic acid supplementation was started at 9 months of age and continued indefinitely. In addition, malaria chemoprevention was provided with mefloquine for those under 8 years of age or doxycycline if 8 years or older. Hydroxycarbamide (hydroxyurea) was provided at 9 months of age at the starting dose of 15 mg/kg/day and titrated to a maximum dose of 35 mg/kg/day based on haemoglobin level, mean corpuscular volume values and disease severity. Newborns with HbSC were also enrolled in the KHWC SCD programme and followed closely. Lastly, children with HbSS and HbSC disease were offered disease‐specific immunizations in addition to those within the Malian national vaccination programme. Families were also educated on fever management and clinical signs of anaemia, splenic sequestration and other known complications of SCD. Clinic visits occurred every 3–6 months depending on the clinical status and social situation of the patient.

RESULTS

Of 18 164 newborns born at KHWC over the study period, 18 015 (99.2%) were screened using the HemotypeSC™ POC test. There were 149 (0.82%) newborns who left the hospital at less than 24 h of life and therefore were not able to be screened. Of the 18 015 newborns screened, HbAS was present in 1563 (8.68%) and HbAC in 1601 (8.89%). HbSS was found in 118 (0.66%) and HbSC in 123 (0.68%) with a total SCD prevalence of 1.34% (Table 2). These 241 newborns with SCD were enrolled into KHWC Sickle Cell Program for ongoing clinical management (Figure 1).

TABLE 2.

Distribution of haemoglobin subtypes, Koutiala Hospital for Women and Children 2019–2025.

HemotypeSC™ result	n	%
HbAA	14 531	80.66
HbAC	1601	8.89
HbAS	1563	8.68
HbSC	123	0.68
HbSS	118	0.66
HbCC	79	0.44
Total	18 015	100

FIGURE 1.

Consort diagram for screening study with management plan per diagnosis.

DISCUSSION

With systematic screening of over 18 000 newborns across 6 years, this study represents both the longest duration and the largest cohort screened for SCD at a single rural hospital in SSA. We identified an SCD prevalence (HbSC and HbSS) of 1.34% and a carrier frequency (HbAC and HbAS) of 17.56%, closely matching regional estimates (Table 1). Our programme achieved >99% coverage of all births at KHWC, demonstrating not only the technical feasibility but also the cultural acceptability of POC screening in this setting.

While this report focuses on screening implementation and results, forthcoming analyses will present data within this cohort. Additional aspects will be discussed such as linkage and ongoing adherence to care, clinical management and long‐term health outcomes of diagnosed newborns. This subsequent work will provide additional evidence of the benefits of universal newborn screening.

One of the integral factors contributing to the success of the newborn screening programme was the focus on the counselling being given by Malian healthcare providers fluent in the local languages and equipped with additional training in SCD and its genetic inheritance. This approach helped build trust with families. The sustained implementation of the screening programme over a 6‐year period further enhanced community awareness and acceptance of early diagnosis.

This implementation study demonstrates a cost‐effective method for universal newborn screening for SCD that could substantially reduce early childhood mortality and overall disease burden. ² , ¹⁶ Apart from procurement of HemotypeSC™ rapid test kits, no external funding was provided for the implementation programme. Based on a shared understanding of the medical significance and the desire for sustainability, no financial incentive was provided to hospital staff as KHWC integrated the screening into their existing newborn care workflow. Our project benefitted from a negotiated rate of less than $2 dollars per rapid test. A recent announcement from Clinton Health Access Initiative has revealed an even greater reduction in price down to $1 per test. ¹⁷

There were several contributing factors to our high screening uptake. For one, KHWC has a routine 24‐h post‐delivery observation policy in which every newborn remains in care for at least 1 day, enabling completion of screening prior to discharge. This embedded practice minimizes loss to follow up and ensures nearly universal coverage. Another key aspect which led to our high percentage of newborns screened was the maternal openness of newborn testing. Our observed level of consent is typical for this area in Mali and is consistent with prior studies, such as those screened for hepatitis B. ¹⁸

Our study is subject to several limitations inherent to the rapid POC testing strategy. First, the HemotypeSC™ assay cannot distinguish between sickle cell trait (HbAS) and sickle β⁺‐thalassaemia (HbSA), although our prior regional analyses indicate the prevalence of HbSA is very low. ¹⁹ Second, we did not perform confirmatory testing with HPLC or IEF. Published validation studies in West Africa have already demonstrated high sensitivity and specificity of HemotypeSC™ results relative to these assays, and POC testing is much more practical and efficient for rural settings. ⁵ Finally, our implementation programme was conducted within a hospital setting and thus infants born in the Koutiala area through home births were not captured. Despite these limitations, our findings are robust and highlight the adaptations that are often necessary in rural settings to promote sustainability.

In conclusion, systematic, POC newborn screening for SCD is feasible and sustainable in rural Mali. This model provides a blueprint for early diagnosis across SSA.

AUTHOR CONTRIBUTIONS

A.G., B.M. and A.R.A. contributed to the study design. J.K., D.S. and P.D. contributed to study recruitment, data acquisition and conduct. K.C., A.G., B.M. and A.A. contributed to study conduct, data analysis, data interpretation and manuscript preparation. A.G. and K.C. are shared first authors due to their equal contributions. All authors approved the final version for submission.

FUNDING INFORMATION

Funding support was provided by Sickle Forward, LLC and Global Partners in Hope, both registered 501(c)3 organizations.

CONFLICT OF INTEREST STATEMENT

The authors declare no conflicts of interest.

ETHICS STATEMENT

The screening protocol was approved by the institutional ethical review board for the Koutiala Hospital for Women and Children and supported by the Sickle Cell Research and Control Centre (CRLD) within the Mali Ministry of Health.

CONSENT STATEMENT

Verbal maternal consent was obtained prior to screening in accordance with local practice. This study was done in accordance with all other applicable Malian laws and regulations.

Guindo A, Cablay K, Kamate J, MacLean B, Saye D, Dembele P, et al. Systematic point‐of‐care newborn screening for sickle cell disease in rural Mali, West Africa. Br J Haematol. 2025;207(5):2118–2122. 10.1111/bjh.70158