Abstract
Background
Sickle cell disease (SCD) is a major global health challenge, with over 75% of the burden concentrated in sub-Saharan Africa. Premarital sickle cell trait testing (SCTT) enables informed reproductive decisions that can help carriers reduce the risk of having children with SCD, yet uptake remains poorly documented among young adults in the region.
Objective
To assess knowledge and practices towards premarital SCTT among young adults aged 18–35 years attending the outpatient department (OPD) of a regional referral hospital in Eastern Uganda.
Methods
A descriptive cross-sectional study was conducted among 298 young adults attending the OPD at Soroti Regional Referral Hospital (SRRH), selected using simple random sampling. Data were collected via pretested, self-administered questionnaires and analyzed in SPSS version 27 using descriptive statistics and exploratory subgroup comparisons.
Results
Of 298 participants, 64.1% were female, with a median age of 28 years (range 18–35). Awareness of SCD was high (95.3%); 93.0% knew it is inherited and 78.2% knew it is incurable. Most (79.2%) had heard of SCTT, mainly through hospitals (63.6%) and radio (36.9%), but only 12.1% had ever been tested, and 61.1% did not know premarital testing could inform couples of their risk of having a child with SCD. Half (50.0%) had avoided SCTT, citing lack of access (59.1%) and fear of positive results (31.5%) as leading reasons; positive SCTT practice remained low across subgroups, slightly higher among those fearing relationship termination (1.3%).
Conclusion
Young adults attending OPD at SRRH showed moderate awareness of SCTT but low uptake. Although most understood that SCD is inherited and incurable, many lacked knowledge of the risk-informing role of premarital testing. Barriers including limited access, fear of positive results, and relationship concerns contributed to low uptake, revealing a knowledge–practice gap that calls for targeted interventions in Eastern Uganda.
Keywords: sickle cell trait, premarital testing, knowledge, practices, young adults, Uganda, Soroti
Introduction
Sickle cell disease (SCD) is a genetic disorder that occurs when an individual inherits two abnormal hemoglobin genes, including hemoglobin S (HbS), causing red blood cells to become sickle-shaped.1 Sickle cell trait (SCT), by contrast, arises when a person inherits one sickle gene and one normal hemoglobin gene; carriers are typically asymptomatic but can transmit the gene to their children.2 When both parents carry the trait, each pregnancy carries a 25% risk of producing a child with SCD, a risk that is constant across pregnancies regardless of prior outcomes.3
SCD-related complications, including chronic anemia, recurrent infection, and vaso-occlusive pain crises, often begin in infancy.4 Sickle cell anemia, the predominant form of the disease, affects over 20 million people worldwide, with an estimated 312,302 affected births annually; more than 75% of these occur in sub-Saharan Africa, where limited access to early detection and care contributes to the loss of over 500 affected children daily.4 In Uganda, the national Uganda Sickle Surveillance Study (US3) found a national SCT prevalence of 13.3% and SCD prevalence of 0.7%, with district-level SCT prevalence ranging from 2.5% to 23.9% and the heaviest burden concentrated in the Mid-Northern and East Central regions.5
Premarital screening for SCT is a key strategy for enabling informed reproductive decisions and reducing hereditary transmission of SCD, particularly among young adults who are at a critical stage for making decisions about relationships and childbearing.6 Despite this, knowledge and uptake of SCTT remain low in many sub-Saharan African settings, in part because limited awareness translates directly into limited practice.7 In Eastern Uganda, including Soroti, the burden of SCD substantially exceeds the national average, and delayed diagnosis linked to poor health-seeking behavior and limited access to genetic counseling makes targeted premarital screening in this region especially important.8
Prior research in Uganda has largely focused on screening symptomatic children, with comparatively little attention paid to premarital testing among young adults, and evidence from high-burden areas such as Soroti remains scarce.8,9 This study therefore assessed the knowledge and practices towards premarital sickle cell trait testing among young adults aged 18–35 years attending the OPD clinic at Soroti Regional Referral Hospital, with the aim of generating locally relevant evidence to inform targeted public health education, counseling, and screening strategies in Eastern Uganda.
Materials and Methods
Study Design and Setting
This was a facility-based, descriptive cross-sectional study employing quantitative methods, conducted at the OPD clinic of Soroti Regional Referral Hospital (SRRH), one of 13 government regional referral hospitals in Uganda, located approximately 320 km northeast of Kampala. SRRH has a bed capacity of 251 and serves the Teso sub-region, including Amuria, Bukedea, Kaberamaido, Katakwi, Kumi, Ngora, Serere, and Soroti districts, offering a broad range of inpatient and outpatient services. The OPD was selected because it provided access to a diverse population of young adults seeking routine care, predominantly for general outpatient consultations such as minor acute illnesses (eg, malaria, respiratory tract infections), follow-up of chronic conditions, routine health checks, and other non-emergency complaints; participants presenting for these routine visits were approached once their primary clinical consultation was complete, so as not to interfere with clinical care.
Study Population and Eligibility
The study population comprised all adults aged 18–35 years attending the OPD clinic at SRRH during the data collection period. Eligible participants were those who consented voluntarily to participate; those who were too unwell to participate, mentally unsound, or who did not attend OPD during the study period were excluded.
Sample Size and Sampling Procedure
The sample size was calculated using the Kish and Leslie formula, based on a pooled premarital SCTT uptake of 22.82% reported in Uganda,7 a 95% confidence level (Z = 1.96), and a 5% margin of error, yielding a minimum of 271 participants; after adjusting for a 10% non-response rate, the final sample size was rounded to 298. Participants were recruited using simple random sampling: numbers from 1 to 80 were written on folded pieces of paper and placed in a box each day, and attendees who picked even numbers were enrolled, on average 15 participants per day (Monday–Friday) until the target sample size was reached over a four-week period, from 1st November 2025 to 29th November 2025.
Data Collection
Data were collected using a pretested, semi-structured, self-administered questionnaire capturing socio-demographic characteristics, knowledge of SCD/SCT and SCTT, and practices towards premarital SCTT, developed from prior literature and mainly comprising closed (Yes/No) questions. The questionnaire was written in English, with select items translated into the local Ateso language. After ethical approval and administrative clearance, informed consent was obtained from each participant before questionnaire administration, and completed questionnaires were checked for completeness on-site.
Quality Control
Content and construct validity were ensured through supervisor review of the questionnaire to confirm that items adequately measured the study variables. Reliability was assessed through a pilot study among 20 participants attending the OPD clinic at Mbale Regional Referral Hospital, who did not form part of the final sample; feedback from the pilot informed minor revisions to the tool.
Data Management and Analysis
Completed questionnaires were checked for completeness and accuracy and stored securely, accessible only to the principal researcher. Data were analyzed using SPSS version 27 and summarized as frequencies and percentages, presented in tables and charts. Participants were considered knowledgeable if they had ever heard of sickle cell trait testing,10 and were considered to have good practice if they reported having ever tested for SCT, consistent with criteria used in prior studies.11
Responses were additionally compared by marital status (married, single, in a relationship, divorced; and married versus not married) and by parenthood (with versus without children). These subgroup comparisons were exploratory and used Pearson’s chi-square test, Fisher’s exact test where expected counts in 2×2 tables were below 5, and Monte Carlo permutation tests (10,000 permutations) for comparisons across the four marital categories, which contained small cells; p < 0.05 was considered statistically significant, without adjustment for multiple comparisons.
Ethical Considerations
This study was conducted in accordance with the Declaration of Helsinki. Ethical clearance was obtained from the Mbale Regional Referral Hospital Research Ethics Committee (protocol number MRRH-2025-103; REC registration number UG-REC-001); this independent regional ethics committee reviewed the study because Soroti University does not currently operate its own institutionally accredited Research Ethics Committee for student research, and in line with standard practice in Uganda, students from universities without an accredited REC seek ethical review from an accredited regional Research Ethics Committee. Administrative clearance was also obtained from Soroti University and SRRH. Written informed consent was obtained from all participants after the study purpose was explained. Participant anonymity was maintained through numeric identifiers, confidentiality was safeguarded by restricting data access to the research team, and participation was voluntary, with no penalty for withdrawal or non-participation.
Results
All 298 targeted participants completed the questionnaire, yielding a 100% response rate.
Socio-Demographic Characteristics
Of the 298 participants, 64.1% were female and 35.9% were male, with a median age of 28 years (range 18–35); most participants (88.6%) were 20 years or older. The most common religious affiliation was Protestant (47.7%). Slightly over half (51.7%) were married, 50.7% had attained secondary-level education, and only 3.0% had no formal education. In terms of occupation, 50.7% were self-employed and 24.8% were students. Participants had a mean of 2.19 children (SD 2.373).These characteristics are summarized in Table 1, alongside awareness of SCTT by subgroup.
Table 1.
Socio-Demographic Characteristics of Participants and Awareness of Sickle Cell Trait Testing (N = 298)
| Characteristic | n (%) | Aware of SCTT, n (% of Row) |
|---|---|---|
| Sex | ||
| Male | 107 (35.9) | 84 (78.5) |
| Female | 191 (64.1) | 152 (79.6) |
| Age group (years) | ||
| <20 | 34 (11.4) | 28 (82.4) |
| 20–<25 | 70 (23.5) | 50 (71.4) |
| 25–<30 | 76 (25.5) | 63 (82.9) |
| 30–35 | 118 (39.6) | 95 (80.5) |
| Age, median (range), years | 28 (18–35) | — |
| Marital status | ||
| Married | 154 (51.7) | 122 (79.2) |
| Single | 91 (30.5) | 70 (76.9) |
| In a relationship | 38 (12.8) | 31 (81.6) |
| Divorced | 15 (5.0) | 13 (86.7) |
| Highest level of education | ||
| No formal education | 9 (3.0) | 4 (44.4) |
| Primary | 70 (23.5) | 58 (82.9) |
| Secondary | 151 (50.7) | 124 (82.1) |
| University/Tertiary | 68 (22.8) | 50 (73.5) |
| Current occupation | ||
| Self-employed | 151 (50.7) | 122 (80.8) |
| Student | 74 (24.8) | 62 (83.8) |
| Unemployed | 55 (18.5) | 39 (70.9) |
| Formal employment | 18 (6.0) | 13 (72.2) |
| Religion | ||
| Protestant | 142 (47.7) | 111 (78.2) |
| Catholic | 116 (38.9) | 92 (79.3) |
| Muslim | 22 (7.4) | 18 (81.8) |
| Other | 18 (6.0) | 15 (83.3) |
| Number of children | ||
| 0 | 96 (32.2) | 75 (78.1) |
| 1–2 | 96 (32.2) | 74 (77.1) |
| ≥3 | 106 (35.6) | 87 (82.1) |
| Number of children, mean (SD) | 2.2 (2.4) | — |
Notes: SCTT, sickle cell trait testing. Percentages in the first column are of all 298 participants; percentages in the last column are of the participants in that row. Bold text indicates characteristic headings only.
Knowledge of Sickle Cell Disease and Trait Testing
Most participants (95.3%) had heard of SCD, and 77.9% correctly knew that it causes pain. The large majority (93.0%) knew that SCD is inherited from parents, and 78.2% knew it is not curable. Regarding SCTT specifically, 79.2% of participants had ever heard of it, most commonly through hospitals (63.6%) and radio (36.9%) (Figure 1). Awareness of SCTT was similar in females (79.6%) and males (78.5%) and in married (79.2%) and single (76.9%) participants (Table 1); it was lowest among the few participants with no formal education (44.4%, n = 9), and lower among unemployed participants (70.9%) than among students (83.8%). Above two-thirds (67.4%) correctly identified a blood sample as the specimen used for testing, and 41.6% correctly identified before marriage as the appropriate testing period. However, despite this awareness, 61.1% of participants did not know that testing for SCT could help inform their risk of having a child with SCD, indicating a gap between general awareness and understanding of the risk-informing value of premarital testing.
Figure 1.
Sources of information about sickle cell trait testing among participants who were aware of it.
Practices Towards Premarital Sickle Cell Trait Testing
Despite relatively high awareness, only 12.1% of participants had ever undergone SCTT, while 87.9% had never tested. Among the 36 participants who had tested, 41.7% did so while in a serious relationship and 33.3% before the age of 18 years. Less than half (45.0%) had ever encouraged another person to undergo premarital SCTT, and only 22.5% had attended a premarital counseling session that included information on SCTT. Half (50.0%) of participants reported having avoided or refused SCTT at some point, with the most common reasons being lack of access (59.1%), fear of a positive result (31.5%), fear that a positive result would end a relationship (21.5%), and cost (28.2%). When asked what they would do if both they and their partner tested positive for SCT, 49.0% said they would end the relationship to avoid having a child with SCD, 31.2% would continue the relationship and have children, and 16.4% would consider adoption or assisted reproduction. These practices and reasons for avoidance are detailed in Table 2
Table 2.
Practices Towards Premarital Sickle Cell Trait Testing (N = 298)
| Testing Practices | Yes, n (%) | No, n (%) |
|---|---|---|
| Ever tested for sickle cell trait | 36 (12.1) | 262 (87.9) |
| Ever attended premarital counselling that included SCTT information | 67 (22.5) | 231 (77.5) |
| Ever encouraged someone to test before marriage | 134 (45.0) | 164 (55.0) |
| Ever refused or avoided SCTT | 149 (50.0) | 149 (50.0) |
| Reasons for avoiding SCTT (among the 149 who avoided it; more than one reason possible) | n (%) of 149 | |
| Lack of access to testing | 88 (59.1) | |
| Fear of a positive result | 47 (31.5) | |
| Fear of cost | 42 (28.2) | |
| Fear of the relationship ending | 32 (21.5) |
Notes: SCTT, sickle cell trait testing. Percentages in the upper block are of all 298 participants and rows sum to 100%. Bold text indicates section headings only.
Across nearly all sociodemographic and attitudinal subgroups, positive SCTT practice remained low; notably, testing uptake was somewhat higher among participants who had never avoided testing (11.4%) compared with those who had avoided it (0.7%), and slightly higher among those who cited fear of relationship termination as a concern (1.3%) relative to other subgroups.
Practices by Marital Status and Parenthood
Awareness and practice indicators were broadly similar across marital and parenthood subgroups (Table 3). Awareness of SCTT was 79.2% in both married and not-married participants and ranged from 76.9% (single) to 86.7% (divorced) across the four marital categories (p = 0.83). Testing uptake was low in every group: 11.7% among married, 13.2% among single, 7.9% among those in a relationship and 20.0% among divorced participants (p = 0.66), and 13.4% among participants with children compared with 9.4% among those without (p = 0.43). Notably, fewer than one in eight married participants (11.7%) had ever been tested for SCT. Avoidance of testing was somewhat more frequent among married (53.9%) than not-married participants (45.8%; p = 0.20) and among those with children (53.0%) than those without (43.8%; p = 0.17), but neither difference was statistically significant. Knowledge that premarital testing informs the risk of having a child with SCD was similar in married (39.0%) and not-married participants (38.9%) and in those with (37.1%) and without children (42.7%; p = 0.43). The only statistically significant difference was in attendance at premarital counselling that included information on SCTT, which varied across marital categories (single 31.9%, divorced 20.0%, married 20.1%, in a relationship 10.5%; p = 0.039) but did not differ between married and not-married participants (20.1% vs 25.0%; p = 0.39) or by parenthood (20.8% vs 26.0%; p = 0.39).
Table 3.
Awareness and Practices Towards Premarital Sickle Cell Trait Testing by Marital Status and Parenthood (N = 298)
| Group | n | Heard of SCTT, n (%) | Ever Tested for SCT, n (%) | Ever Avoided or Refused SCTT, n (%) | Knew testing Informs risk of a Child with SCD, n (%) | Attended Premarital Counselling Including SCTT, n (%) |
|---|---|---|---|---|---|---|
| Marital status | ||||||
| Married | 154 | 122 (79.2) | 18 (11.7) | 83 (53.9) | 60 (39.0) | 31 (20.1) |
| Single | 91 | 70 (76.9) | 12 (13.2) | 42 (46.2) | 35 (38.5) | 29 (31.9) |
| In a relationship | 38 | 31 (81.6) | 3 (7.9) | 17 (44.7) | 17 (44.7) | 4 (10.5) |
| Divorced | 15 | 13 (86.7) | 3 (20.0) | 7 (46.7) | 4 (26.7) | 3 (20.0) |
| p-value, four categoriesa | 0.826 | 0.662 | 0.599 | 0.695 | 0.039c | |
| Married versus not married | ||||||
| Married | 154 | 122 (79.2) | 18 (11.7) | 83 (53.9) | 60 (39.0) | 31 (20.1) |
| Not married (single, in a relationship or divorced) | 144 | 114 (79.2) | 18 (12.5) | 66 (45.8) | 56 (38.9) | 36 (25.0) |
| p-valueb | 1.000 | 0.970 | 0.202 | 1.000 | 0.386 | |
| Parenthood | ||||||
| With children | 202 | 161 (79.7) | 27 (13.4) | 107 (53.0) | 75 (37.1) | 42 (20.8) |
| No children | 96 | 75 (78.1) | 9 (9.4) | 42 (43.8) | 41 (42.7) | 25 (26.0) |
| p-valueb | 0.872 | 0.425 | 0.173 | 0.426 | 0.387 |
Notes: SCTT, sickle cell trait testing; SCT, sickle cell trait; SCD, sickle cell disease. Percentages are row percentages. aMonte Carlo permutation test (10,000 permutations) across the four marital categories. bPearson’s chi-square test (Fisher’s exact test where expected counts were below 5). cStatistically significant at p < 0.05. Comparisons are exploratory and unadjusted for multiple testing. Bold text indicates group headings only.
Discussion
This study found high awareness of SCD (95.3%) and moderately high awareness of SCTT (79.2%) among young adults attending OPD at SRRH, comparable to the high knowledge of SCD and sickle cell trait (93.7%) reported by Kisakye et al among university students in Eastern Uganda.2 In contrast, lower knowledge of premarital screening (46.3%) was reported among young unmarried adults in Lagos, Nigeria,12 and an even lower proportion (20%) was aware of premarital screening in a smaller study conducted in Gombe hospital,13 differences that may partly reflect variation in sample size and resource settings.
Although most participants correctly identified that SCD is inherited (93.0%) and incurable (78.2%), 61.1% did not know that premarital testing could help inform the risk of the birth of a child with SCD, suggesting that general disease awareness has not translated into comprehensive understanding of the risk-informing value of testing; it is worth emphasizing that premarital testing does not itself prevent SCD, but rather equips couples with genotype information to make informed reproductive decisions that may reduce the risk of an affected pregnancy. This pattern echoes findings from Ndeezi et al,5 who similarly reported high SCD awareness alongside limited understanding of genetic inheritance and prevention in Uganda, as well as pooled African evidence that awareness of SCD does not necessarily translate into screening uptake.7
Regarding practice, only 12.1% of participants had ever undergone SCTT despite high awareness, indicating a substantial knowledge–practice gap. This is lower than the 24.4% screening uptake reported among university students in Eastern Uganda,2 and in keeping with earlier Ugandan findings of testing rates below 20% despite high awareness.14 Similarly, pooled evidence from Africa links low screening uptake despite awareness to socioeconomic factors and limited access to screening services.14 These patterns suggest that structured institutional and community mechanisms for premarital screening may meaningfully improve uptake beyond what awareness alone can achieve.
The leading barriers to testing identified in this study — lack of access (59.1%), fear of a positive result (31.5%), and fear of relationship termination (21.5%) — point to a mix of structural and psychosocial obstacles. The finding that fear of relationship consequences influenced testing behavior aligns with health behavior frameworks that emphasize perceived social consequences as key determinants of preventive action, underscoring that improving access alone may be insufficient without also addressing stigma and relationship-related anxieties around testing.
Subgroup comparisons showed that low uptake of testing was not confined to unmarried or childless participants. Awareness, testing, avoidance and knowledge of the risk-informing role of testing were similar by marital status and parenthood, and fewer than one in eight married participants, for whom the question is most immediate, had ever been tested. This suggests that the knowledge–practice gap is not explained by relationship stage or parity, and that interventions should reach married people and parents, for example through OPD and reproductive health services, as well as young people before marriage. Single participants reported attending premarital counselling more often than those in a relationship, but this was one of 15 exploratory comparisons (p = 0.039) based on small subgroups (for example, 15 divorced participants) and should be regarded as hypothesis-generating. The study was not powered for these comparisons, so the absence of significant differences should not be read as evidence that no differences exist.
Study Implications
These findings suggest a need to strengthen genetic counseling services and integrate routine premarital SCTT into OPD and reproductive health services, given that awareness alone has not translated into adequate uptake. Community awareness programs should specifically address psychosocial barriers such as stigma and fear of relationship instability, alongside efforts to improve the affordability and accessibility of testing services.
Strengths and Limitations
This study benefits from its focus on young adults in a key reproductive age group and provides locally relevant evidence from a high-burden, under-studied setting using a structured, pretested data collection tool. However, several limitations should be considered. Reliance on self-reported data introduces the possibility of recall and social desirability bias, particularly regarding testing history. The hospital-based, cross-sectional design limits generalizability to the wider community and precludes causal inference. The sample was also skewed toward female participants (64.1% female vs 35.9% male), a pattern commonly observed in OPD-based studies in this setting and plausibly reflecting women’s generally higher routine health-seeking behavior, including attendance for reproductive and maternal health services, rather than a feature of the random sampling procedure itself; this sex imbalance may limit the generalizability of findings to male populations and could not be fully examined as a potential confounder within the descriptive analysis used here. The exploratory subgroup comparisons by marital status and parenthood were unadjusted for multiple testing and limited by small subgroup sizes. Finally, the heterogeneous socio-demographic profile of OPD attendees may have introduced unmeasured confounding.
Conclusion
Young adults attending OPD at Soroti Regional Referral Hospital demonstrated high awareness of sickle cell disease and moderate awareness of sickle cell trait testing, but actual uptake of premarital testing remained low. While most participants understood that SCD is inherited and incurable, a substantial proportion lacked knowledge of the risk-informing role of premarital testing, and barriers including limited access, fear of positive results, and relationship concerns constrained uptake. These findings point to a meaningful knowledge–practice gap that warrants targeted interventions — including routine integration of SCTT counseling into OPD and reproductive health services, community sensitization addressing stigma, and improved affordability of testing — to improve premarital sickle cell trait testing uptake among young adults in Eastern Uganda.
Acknowledgments
The authors thank the management and staff of the OPD clinic at Soroti Regional Referral Hospital, and all study participants, for their cooperation during data collection.
Author Contributions
All authors made a significant contribution to the work reported, whether that is in the conception, study design, execution, acquisition of data, analysis and interpretation, or in all these areas; took part in drafting, revising or critically reviewing the article; gave final approval of the version to be published; have agreed on the journal to which the article has been submitted; and agree to be accountable for all aspects of the work. Specific contributions were as follows: Precious Thereza Namazzi, conceptualisation and protocol development; Ssekabira Abudu Rahuman, design of the data collection tool, data analysis and manuscript writing; Ethel Turyasingura, Jacintah Nyesigye, Edson Ssemujju and Emmanuel Ikaara, data collection, protocol review and data analysis; Dr Gladys Nakidde, supervision.
Disclosure
The authors report no conflicts of interest in this work.
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