Sickle Cell Trait Research Articles

Sickle cell disease burden among tribal population of India: a narrative review

Sickle cell disease (SCD) is a serious health challenge for tribal communities in India. These groups often have limited access to healthcare, lack proper awareness of the disease, and face higher rates of illness and death due to SCD. This review looks at the impact of SCD on tribal populations and identifies the states where the burden is most significant. A review of existing literature was conducted using sources like PubMed and Google Scholar. The focus was on studies that explored the prevalence of SCD among tribal populations. Various government reports and research articles were also examined to create a well-rounded understanding of how SCD affects these communities. The findings show that Madhya Pradesh and Chhattisgarh have particularly high rates of SCD compared to other parts of India. In these states, between 10% and 30% of tribal groups carry the sickle cell trait. Other states, such as Odisha and Maharashtra, have lower rates of the disease, suggesting that specific attention is needed in regions like Madhya Pradesh and Chhattisgarh to manage the disease more effectively. SCD continues to pose a serious public health issue in India’s tribal regions, particularly in certain states. It is essential to develop strategies that focus on raising awareness, improving access to healthcare, and managing SCD effectively in these communities. Public health efforts must include community involvement, education programs, and policy changes to better address the unique challenges faced by these populations.

Assessment of amino acids and metabolites in the supernatant of stored concentrates blood from sickle cell trait (SCT) and reference (non-SCT) donors.

Sickle cell trait (SCT) persons are significant donors, and discarding these blood units reduces their supplies, mainly in the third-world countries. This work focused on 12 metabolites associated with the red blood cell (RBC) storage lesion and 23 amino acids in the supernatants of packed RBC units from SCT and reference (non-SCT) donors stored in the same conditions. All samples of RBC concentrates were collected and separated from the storage of Colsan (Beneficient Association of Blood Collection), where they were routinely processed and separated as packed RBC units and stored in the refrigerator (2°-6°C). The supernatant samples of each packed RBC bag were separated by centrifugation at days 1, 7, 14, 21, 28 and 35 of storage and kept at -80°C till the metabolite analysis together. The quantitation of metabolites and amino acids examined in the supernatant of SCT and reference donors showed no statistical differences along the cold storage. Lactic acid and malic acid releases occur in three phases during RBC storage. Basic and acid amino acids and corresponding amides have low and stable values during the first 14 days of storage, followed by a steep increase. Our metabolomic results give elements that seem not to contraindicate the transfusion of RBC with SCT, besides its more structural fragility.

7568 Sickle Cell Variant Promotes Glycemic Dysregulation In A Mouse Model Of Human Sickle Cell Trait And Sickle Cell Disease

Abstract Disclosure: J.L. Zapater: None. B.T. Layden: None. Since cases of type 2 diabetes mellitus (T2DM) are rising due to environmental and societal factors, it is estimated that in the coming decades that T2DM will affect twenty percent of the United States population and that mortality from diabetic complications will continue to rise. It is therefore critical to accurately diagnose and treat T2DM early, however this proves difficult in certain populations. Sickle cell anemia is a common hemoglobinopathy in which changes in red blood cell turnover lead to inaccurate measurement of hemoglobin A1c and incongruencies between this and other glucose measures, making it difficult to establish a diagnosis of T2DM. The sickle cell variant has been linked to higher hemoglobin A1c, and with 1-in-10 African Americans having the sickle cell trait (SCT), an increasing prevalence of sickle cell disease (SCD), and a higher risk of diabetic complications in those with SCT or SCD, it is critical that we elucidate the precise mechanisms by which the sickle cell variant affects glycemic homeostasis. In this work, we utilized a mouse model of human sickle cell anemia to begin to determine the biochemical mechanisms governing glucose handling in the presence of the sickle cell variant by examining glycemic homeostasis under normal and obesogenic conditions. Townes sickle cell mice containing human hemoglobin with either two normal β-globin chains (littermate controls) or one normal and one sickle β-globin chain (SCT) were placed on either a normal chow diet or on a high fat diet (HFD) until 20 weeks of age to induce an obesogenic state. Although no overt glycemic phenotype was noted, 20-week-old HFD-fed SCT mice exhibited an increased glucose excursion following an oral glucose load compared to littermate controls. Though serum insulin levels were comparable, HFD-fed SCT mice also exhibited a reduced whole-body insulin sensitivity during insulin tolerance testing compared to controls, correlating with the noted increased glycemic excursion. With these findings, we have initiated work with Townes mice containing two normal α-chains and two sickle β-chains (SCD), which is found in human sickle cell anemia. Early results show that chow-fed SCD mice exhibit greater random and fasting glucose levels at 8 and 12 weeks of age, despite similar fasting insulin levels. These findings suggest that the presence of one sickle β-globin chain, as in SCT, promotes hyperglycemia in the obesogenic state through reduction of whole-body insulin sensitivity. Furthermore, the presence of two sickle β-globin chains, as in SCD, is sufficient to dysregulate glycemic control under normal conditions. In total, these findings demonstrate that the presence of the sickle cell variant promotes glucose dysregulation and hyperglycemia, meaning that it is essential to understand the glycemic regulation in patients with sickle cell trait and sickle cell anemia. Presentation: 6/1/2024

7982 Is there a Connection between Alpha Thalassemia and Thyroid Disorders

Abstract Disclosure: W. Akhter: None. V. Taqi: None. J.L. Gilden: None. IntroductionA number of case reports suggest an association between thalassemia and autoimmune diseases through specific mutations and molecular pathways. An example is thyroid disease in thalassemia patients. Due to factors such as age, ethnicity and treatment protocol differences, the frequency of hypothyroidism in thalassemia patients is a wide range of 4 to 29% based on free T4 and TSH levels. Subclinical hypothyroidism is more common in thalassemia patients as compared to overt hypothyroidism. 90% of morbidity and mortality in B-Thalassemia patients is attributed to iron overload, anemia and hypoxia. Understanding this possible mechanism helps guide treatment and monitoring. Case PresentationWe present the case of a 26-year-old African American with Haitian ethnicity female, who upon routine testing was found to have a very high TSH level of 79.084 uIU/ml (nl=0.550-4.780 uIU/ml) for which 125 mcg of Levothyroxine was started, and then she was referred to the endocrine clinic. Past history was notable for sickle cell trait and alpha thalassemia trait. Patient stated that at age 12, she developed fatigue and low energy and was found to have hyperthyroidism which was treated with RAI ablation. After that, no follow up or lab tests were done until recently. The patient denied symptoms of hypo or hyperthyroidism or enlargement of the thyroid gland. She denied any family history of thyroid disorders. After presenting to the endocrine clinic a few days later, she was diagnosed with postprocedural hypothyroidism and the same dose of levothyroxine was continued. Physical exam was unremarkable and no thyromegaly was appreciated on exam. Labs were notable for decreased Hemoglobin of 11.4 g/dL (nl=12-16 g/dL) and CMP was unremarkable except low glucose of 65 mg/dL (nl=70-99 mg/dL). The patient’s most recent labs after 8 weeks of taking Levothyroxine were notable for TSH of 14.65 uIU/ml (nl=0.550-4.780 uIU/ml) and free T4 of 1 ng/dL (nl= 0.89-1.76 ng/dL) and the patient admitted to having still no thyroid symptoms and a little more energy. ConclusionEndocrinopathies are common complications of thalassemia with hypothyroidism being the second most common endocrine disorder in thalassemia patients after hypogonadism, reported in 5.6-17% of patients. In thalassemia patients, endocrine disorders have to be managed as early as possible. Therefore, it is recommended that an endocrine evaluation be carried out in thalassemia patients at a young age.Monitoring for glucose homeostasis, hypothyroidism and hypoparathyroidism is also warranted. Physicians caring for thalassemia patients should perform routine screening for and treat thyroid dysfunction appropriately. Reference: De Sanctis V, Soliman AT, Canatan, et al.. Thyroid Disorders in Homozygous β-Thalassemia: Mediterr J Hematol Infect Dis. 2019 May 1;11(1):e2019029. doi: 10.4084/MJHID.2019.029. PMID: 31205633; PMCID: PMC6548211. Presentation: 6/2/2024

Adverse clinical outcomes associated with sickle cell trait at high altitude.

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Hypertonicity and/or acidosis induce marked rheological changes under hypoxic conditions in sickle trait red blood cells.

Deformability and sickling of red blood cells (RBCs) from individuals with sickle cell trait (SCT) was evaluated under harsh biophysical conditions that mimic certain vascular beds invivo. RBC deformability in osmotic-gradient ektacytometry was decreased in HbAS (SCT) compared to HbAA (wild-type) RBCs at supraphysiological osmolalities. RBC deformability was also measured by oxygen-gradient ektacytometry. Whereas RBC sickling was not observed under isotonic and neutral pH conditions, hypertonicity and acidosis alone or in combination induced reversible sickling of SCT RBC. These data suggest that hyperosmolality and/or acidosis enhance hypoxia-induced sickling of SCT RBC.

Knowledge, attitudes, and practices of sickle cell hemoglobinopathies: A case-control study from the sickle cell belt of Odisha, India

Despite the high prevalence of sickle cell haemoglobin (HbS) in Odisha, awareness and understanding of sickle cell trait (SCT) and sickle cell disease (SCD) remain low in affected communities. This cross-sectional study assesses the knowledge, attitude, and practice (KAP) regarding sickle cell hemoglobinopathies among 182 sickle cell carriers and 200 age-sex-community matched controls. The overall knowledge of sickle cell hemoglobinopathies was very low among both case and control groups (score 2.8/10). Although most respondents had heard about SCD (85.71% vs. 82%), few were aware of SCT (34.07% vs. 27%). Notably, none of the participants knew their haemoglobin genotype or carrier status. Only a very small proportion were aware of symptoms, causes, and preventive measures. The overall attitude score was marginally higher in the control group (4.75/11) than in the case group (4.55/11), with an average score of 42.25%. While most recognized the need for regular treatment and screening of children (82.4% carriers, 90.5% controls), many were undecided about the necessity of premarital screening. The overall practice score was very low in both groups (0.4/5), but the mean practice score was significantly higher in cases than controls (11.01% vs. 7.55%). Most participants did not undergo regular health check-ups or engage in preventive measures (97.25%). Traditional health practices were commonly relied upon for treatment. Participants reported a lack of awareness about SCT and fear of discrimination, social isolation, and marriage refusal as major barriers to screening participation.

Could oxygen gradient ektacytometry help to detect sickle cell trait carriers at risk for kidney disorders or exercise-related complications?

The study of Ellsworth etal. (Br J Haematol, 2024) demonstrated the usefulness of oxygen gradient ektacytometry technique to better identify the physiological parameters that could increase the risk of sickling of red blood cells (RBCs) from sickle cell trait (SCT) carriers. Oxygen gradient ektacytometry combined with pH and osmolality modulations could help in identifying SCT carriers at risk for kidney disorders or exercise-related complications. Other factors than the percentages of haemoglobin S are probably involved in the propensity of RBCs from SCT carriers to sickle during deoxygenation. Commentary on: Ellsworth etal. Hypertonicity and/or acidosis induce marked rheological changes under hypoxic conditions in sickle trait red blood cells. Br J Haematol 2024; 205:1565-1569.

Exertional Rhabdomyolysis Requiring Kidney Replacement Therapy in a Man with Sickle Cell Trait

Exertional Rhabdomyolysis Requiring Kidney Replacement Therapy in a Man with Sickle Cell Trait

A Study of the Clinical Profile of Iron Deficiency Anemia in Children With Sickle Cell Disease in a Tertiary Care Center.

Background Sickle cell disease (SCD) and iron deficiency anemia (IDA) are significant global health concerns, particularly in pediatric populations. This study investigates the prevalence, clinical impact, and management challenges of IDA in children with SCD. Methods A prospective observational study was conducted at the Department of Pediatrics, Jawaharlal Nehru Medical College(JNMC) and Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, from June 2022 to May 2024. The study included 60 children diagnosed with SCD. Comprehensive assessments were performed, including medical histories, physical examinations, and hematological investigations. Diagnosis of IDA was based on hemoglobin levels, mean corpuscular volume (MCV), red cell distribution width (RDW), peripheral blood smears, serum iron levels,and serum ferritin concentrations. Results Of the 60 participants, 15% exhibited iron deficiency. No significant gender differences were found in iron deficiency status. A significant association was observed between SCD type and the presence of pallor (p = 0.025) and sickle cell crises (p = 0.023). The study also found no significant association between SCD type and the presence of organomegaly (p = 0.079) or iron deficiency status (p = 0.675). The mean hemoglobin levels varied across SCD types, with sickle cell anemia patients showing lower levels than those with sickle cell trait or disease. Conclusion Diagnosing and managing IDA in children with SCD is complex due to overlapping hematological features and the risk of iron overload from frequent transfusions. Tailored diagnostic and therapeutic approaches are essential to improving hemoglobin levels, reducing complications, and enhancing the quality of life for affected children. This study provides valuable insights for refining clinical practices and emphasizes the need for a multidisciplinary approach to managing these intertwined conditions.

Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden

AbstractSickle cell trait (SCT) is a risk factor for venous thromboembolism (VTE). Prior studies investigating the association between SCT and VTE have been performed nearly exclusively in Black populations. However, race-based research can contribute to systemic racism in medicine. We leveraged data from the 23andMe research cohort (4 184 082 participants) to calculate the ancestry-independent risk of VTE associated with SCT as well as comparative risk estimates for heterozygous factor V Leiden (FVL). Odds ratios (ORs) were calculated using a meta-analysis of 3 genetic ancestry groups (European [n = 3 183 142], Latine [n = 597 539], and African [n = 202 281]) and a secondary full-cohort analysis including 2 additional groups (East Asian [n = 159 863] and South Asian [n = 41 257]). Among the full cohort, 94 323 participants (2.25%) reported a history of VTE. On meta-analysis, individuals with SCT had a 1.45-fold (confidence interval [CI], 1.32-1.60) increased risk of VTE compared with SCT noncarriers, which was similar to the full-cohort estimate. The risk of pulmonary embolism (PE) in SCT (OR, 1.95; CI, 1.72-2.20) was higher than that of isolated deep venous thrombosis (DVT; OR, 1.04; CI, 0.90-1.21). FVL carriers had 3.30-fold (CI, 3.24-3.37) increased risk of VTE compared with FVL noncarriers, with a higher risk of isolated DVT (OR, 3.59; CI, 3.51-3.68) than PE (OR, 2.72; CI, 2.64-2.81). In this large, diverse cohort, the risk of VTE was increased among individuals with SCT compared with those without, independent of race or genetic ancestry. The risk of VTE with SCT was lower than that observed in FVL; however, the pattern of VTE in SCT was PE predominant, which is the opposite to that observed in FVL.

Hemoglobinopathy for Malaria Protection: A Comprehensive Review

Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia, are inherited disorders that affect hemoglobin structure and function, leading to significant health implications. However, these genetic conditions also confer a degree of protection against malaria, particularly Plasmodium falciparum, the most virulent malaria parasite. This comprehensive review examines the relationship between hemoglobinopathies and malaria protection, exploring how genetic mutations in hemoglobin subunits influence susceptibility to malaria. Sickle cell trait (HbAS) provides notable protection against severe malaria, with mechanisms including reduced parasite growth, enhanced immune clearance, and microvascular obstruction. Although homozygous sickle cell disease (HbSS) does not confer protection and leads to severe complications, the high prevalence of HbS in malaria-endemic regions underscores an evolutionary balance. Thalassemia, both alpha and beta types, also offers partial malaria protection by altering the red blood cell environment, though the precise mechanisms remain less understood. Additionally, other hemoglobin variants, such as hemoglobin C (HbC) and hemoglobin E (HbE), demonstrate varying degrees of malaria resistance. The review highlights the evolutionary and epidemiological evidence supporting the protective effects of these genetic traits, emphasizing their role in malaria-endemic regions. Public health implications include the need for genetic counseling and targeted malaria control strategies. Future research directions include elucidating mechanistic pathways, exploring regional variations, and assessing the impact on malaria vaccine efficacy. By integrating insights from hemoglobinopathy research into public health interventions, more effective malaria control strategies can be developed, ultimately improving health outcomes for affected populations. Keywords: Hemoglobinopathies, Sickle Cell Disease, Thalassemia, Malaria Protection, Plasmodium falciparum.

Pachychoroid neovascular membrane in a patient with sickle cell disease trait.

To describe a rare presentation of pachychoroid neovascular membrane in a patient with sickle cell trait and the accuracy of ruling out hemoglobinopathies in the presentation of pachychoroid spectrum. The patient was subjected to physical examinations, multimodal images (fluorescein angiography, optical coherence tomography), hemoglobin electrophoresis, and peripheral blood smear, documenting sickle cell trait. The management included laser treatment to target non-perfusion areas, along with a single dose of anti-VEGF. A 45-year-old male patient with diagnosis of pachychoroid neovascularization treated for 6 years with multiple anti VEGF injections in the left eye. A detailed clinical evaluation included hypochromic conjunctiva, peripheral vascular occlusion with non-perfusion areas led us to suspect sickle cell disease retinopathy. The images of fluorescein angiography showed peripheral arteriovenous anastomosis with non-perfusion areas; the optical coherence tomography revealed a thinner neuroepithelium with a thicker choroid; also, hemoglobin electrophoresis and peripheral blood smear documenting sickle cell trait. The chosen management was photocoagulation of the peripheral retina on the non-perfusion areas and anti VEGF without neovascular activity recurrence in the follow up period. Although sickle cell trait is considered a mild form of this pathology without serious retinal manifestations, it has to be noted that in the context of pachychoroid spectrum diseases is a trigger that could perpetuate retinal ischemia and neovascular activity.

Prevalence of hemoglobinopathies detected by high performance liquid chromatography in tertiary care centre, Kota, Rajasthan

Background: Hemoglobinopathies are the most common heterogeneous group of monogenetic disorder in the world. Their prevalence varies with geographical regions. India is developing country and many studies have shown a significant burden of hemoglobinopathies in India. Our aim is to estimate prevalence of various hemoglobinopathies in our region. Methods: The present study was conducted at the department of pathology, Government Medical College, Kota on patients referred for antenatal or voluntary premarital checkup, patients with clinical history and complete blood count (CBC) suggestive of hemolytic anemia, and family members of known cases of hemoglobinopathies. Transfusion-dependent patients were also included. However, patients with history of blood transfusion within the last 1 month were excluded. EDTA samples were used for CBC using 6-part differential cell counter and high-performance liquid chromatography (HPLC) using BIORAD D10 analyzer. The results were tabulated and analyzed. Results: Of the 226 cases studied, 139 (61.5%) were females and 87 (38.5%) were males. Most common age group was 21 to 30 years. The number of thalassemia traits were 26 (11.5%), sickle cell traits were 7 (3.1%), sickle cell homozygous was 1 (0.4%), compound heterozygous for sickle cell and thalassemia were 2 (0.9%), while the remaining 190 patients (84.07%) were found to have normal HPLC, with presence or absence of nutritional deficiency. Conclusions: In our study, we found a high prevalence of hemoglobinopathies among patients. The most common disorder detected was beta thalassemia trait. Most of the hemoglobinopathies found in our study could be accurately quantified by HPLC which is a rapid, sensitive, and reproducible method for the detection of different hemoglobinopathies.

Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program”

BackgroundHemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders.AimThis study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program.MethodsData were collected from the premarital genetic screening program and entered into the SEHA platform, covering the 13 administrative regions of Saudi Arabia. Blood samples underwent various screening tests for infectious and genetic diseases. Hemoglobin electrophoresis samples were analyzed using capillary electrophoresis, High-Performance Liquid Chromatography (HPLC), or a combination of both methods.ResultsFrom 2011 to 2018, 1,871,184 individuals were included in the study, with 49.8% male and 50.2% female. The average age was 30.2 years. Hemoglobin S (HbS) was identified in 88,431 individuals (4.7% of the tested population and 78.5% of abnormal screening results), primarily as a sickle cell trait. β-thalassemia was the second most common disorder, identified in 22,420 individuals (1.2% of the population and 19.9% of hemoglobin disorders). HbC and HbD were each detected in 0.04% of cases, while HbO-Arab was identified in 0.007% and HbG in 0.006%. Hemoglobin E and hemoglobin Lepore were found to be extremely rare.ConclusionThe study demonstrates regional variation in the prevalence of hemoglobin genetic variants in Saudi Arabia. To effectively mitigate this risk, it is imperative to strengthen public education and awareness, particularly focusing on genetic screening and counseling.

Characterization of Health and Safety Resources for Athletes With Sickle Cell Trait at NCAA Institutions.

Yeargin, SW, Meyer, CM, Hirschhorn, RM, Lane, AD, Arent, SM, and Haggard, CR. Characterization of health and safety resources for athletes with sickle cell trait at NCAA institutions. J Strength Cond Res XX(X): 000-000, 2024-The purpose of this study was to report the prevalence of student-athletes with sickle cell trait (SCT), determine which screening practices are most commonly used, describe the health and human performance services provided to athletes, and ascertain if differences between National Collegiate Athletic Association (NCAA) designations or divisions exist. A cross-sectional survey design was used to query healthcare administrators regarding SCT resources at their institution. The independent variables were designation (historically Black colleges or universities [HBCUs] or non-HBCU) and Division (DI, DII, and DIII). The dependent variables were SCT prevalence, and the health and human performance services provided to athletes. Of the 60 respondents, HBCU ( n = 16) reported 4.9 ± 2.7% of athletes with SCT, which was higher than non-HBCU (1.1 ± 0.8%; p = 0.022). Historically Black colleges or university reported a higher percentage of student-athletes supplying their own screening results than non-HBCU (52.5 ± 39.2 vs. 12.9 ± 24.0%; p = 0.022). Division III reported higher proportions of waivers than DI (68.3 ± 38.4 vs. 16.9 ± 31.0%; p = 0.010). Most schools ( n = 42, 70.0%) reported having policy and procedures regarding exertional sickling, but none ( n = 60, 100.0%) involved strength and conditioning coaches (SCCs) during development. Practically, a greater proportion of DII and DIII institutions do not have supplemental oxygen available compared with DI but not statistically ( p = 0.058). Pragmatically, the prevalence should be considered when ordering and preparing resources annually. NCAA institutions need to create policy and procedure sections beyond screening. Athletic trainers and SCCs need to have a strong collaborative relationship to optimize health and human performance services.

Sickle cell anaemia control mission: Implementation of a comprehensive care model in Anuppur, Madhya Pradesh.

Background & objectives Sickle cell disease (SCD) is a common genetic disorder, predominantly found in the tribal population of India. The examples of models providing comprehensive care and management to individuals with SCD in public health facilities are sparse. The Sickle Cell Anaemia Control Mission is one such model implemented by Jan Swasthya Sahyog, a non-profit organization in collaboration with the National Health Mission in the Anuppur district of Madhya Pradesh. This article aimed to identify the key learnings from this programme that can guide the public health system strengthening with respect to SCD. Methods The Sickle Cell Anemia Control Mission Programme included door to door screening for anaemia, SCD and blood group. SCD cases were included in the programme and other individuals with Anemia were referred for further care. Care for individuals with SCD included counselling, provision of hydroxyurea, regular follow up of clinical parameters and management of complications. Care for individuals with SCD was provided through monthly patient support group (PSG) meetings and regular outpatient /in-patient care at public health facilities. Quantitative data on programme design, screening and patient management collected during programme implementation were used for analysis. Results A total of 39421 persons were screened in 18 months (August 2018-March 2020). Of these 81.9 per cent persons were anaemic, 16.9 per cent had sickle cell trait and 779 (1.98%) had SCD. Eighty-six already diagnosed individuals joined the programme for care. People from all caste categories were diagnosed with SCD. Out of 865 individuals with SCD, 157 underwent regular 9-11 months follow up and showed improvement in clinical symptoms and drug compliance. Interpretation & conclusions Central India has a significant burden of anaemia and SCD. This study found that SCD is present in non-tribals as well. PSGs are an efficient way to deliver non-emergency care for chronic diseases such as SCD.

“Whatever is bad goes back to the woman”: The gendered blame game of sickle cell disease in Malawi and Uganda

Mothers are commonly blamed for the ill-health of their children, and this is well documented in research. However, few studies have considered gendered patterns of blame for hereditary conditions caused by mutations from both parents through dual, shared genetic inheritance. This paper explores the ‘gendering’ of blame in the context of an inherited blood disorder known as sickle cell disease. The findings are drawn from 18 focus group discussions with 117 caregivers of children with sickle cell disease in Malawi and Uganda. Although one mutation from each parent is required for the disease to develop, low awareness about their status as healthy carriers of a sickle cell trait complicated the caregivers' recognition and acceptance of their genetic link to the child's condition. This study demonstrates how fathers and other members of the paternal side of the child's family would deflect blame from their own lineage by directing sole ‘genetic responsibility’ for the child's disease towards mothers. We discuss the implications of gendered blame on household dynamics and healthcare-seeking for children with sickle cell disease in this setting.

Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience.

Neonatal screening for sickle cell disease (SCD) in France, targeted since 1995, indirectly detects newborns with sickle cell trait (SCT). Information about carrier status must be communicated to families in accordance with the 2006 National Consultative Ethics Committee recommendations; however, no national protocol for this exists. In the departments of Nord and Pas-de-Calais, the Regional Neonatal Screening Center transmits this information through a general practitioner (GP). This study aimed to assess the success rate of local practices in transmitting SCT information to parents. The secondary objectives included explaining transmission failures, evaluating post-information couple screening rates, and conducting a nationwide evaluation of SCT information dissemination. In this retrospective, multicenter study, family doctors were surveyed regarding newborns screened for SCT between January 1 and December 31, 2020, in the Nord and Pas-de-Calais departments. Among the 260 screened newborns, 197 were eligible for analysis. Results showed that 31.2% of newborns with SCT had their GP definitively sharing information with their parents. Based on this information, subsequent parental screening accounted for 13.6% of cases. The reasons cited by the GP for failing to convey information included elusive families (52.5%), unfamiliarity or refusal of the role (35%), limited SCD knowledge (25%), and ethical considerations (12.5%). This study highlights the difficulty and heterogeneity in transmitting carrier status information to parents of newborns with SCT. Our findings could serve as a foundation for the development of new methods for information transmission, given the generalization of neonatal screening for SCD by the French National Authority for Health.

Retrospective Cohort Study of Sickle Cell Disease and Large Vessel Retinal Vascular Occlusion Risk in a National United States Database

To determine if differences exist in the risk of developing large vessel retinal vascular occlusions in patients with sickle cell states. Retrospective cohort study. Patients with sickle cell disease or trait evaluated by an ophthalmologist were compared to matched controls without sickle cell disease or trait also evaluated by an ophthalmologist. This study used deidentified data from a national database (2006-2024), using International Classification of Diseases 10 codes to select for retinal vascular occlusions. Propensity score matching was performed with respect to age, sex, race, ethnicity, smoking, hypertension, diabetes, dyslipidemias, and obesity, resulting in HbSS, HbSC, and sickle cell trait (SCT) cohorts and matched control cohorts. Risk ratios and 95% confidence intervals (CI) of retinal vascular occlusion diagnosis, including central retinal artery occlusion (CRAO), branch retinal artery occlusion (BRAO), central retinal venous occlusion (CRVO), branch retinal venous occlusion (BRVO), and corneal dystrophy as a negative control, given sickle cell disease or trait. After propensity score matching, HbSS (n=10,802, mean ± standard deviation age of 38.6 ± 20.6 years), HbSC (n=4,296, 34.3 ± 17.8 years), and SCT (n=15,249, 39.8 ± 23.7 years) cohorts were compared to control cohorts (n=10,802, 38.7 ± 20.7 years; n=4,296, 34.6 ± 18.0 years; n=15,249, 39.9 ± 23.8 years, respectively). Patients with sickle cell disease (HbSS) had higher risk of developing any retinal vascular occlusion (RR 2.33; 95% CI 1.82-3.00), CRAO (RR 2.71; 95% CI 1.65-4.47) and BRAO (RR 4.90; 95% CI 2.48-9.67) than matched controls. Patients with HbSC disease had higher risk (RR 3.14; 95% CI 1.95-5.06) of developing any retinal vascular occlusion than matched controls without sickle cell disease. Patients with sickle cell trait did not have higher risk of developing retinal vascular occlusions (RR 1.01; 95% CI 0.81-1.26) than matched controls. In a retrospective cohort study, patients with HbSS sickle cell disease have an increased risk of developing retinal vascular occlusions, and more specifically CRAO and BRAO compared to patients without sickle cell disease.