Sickle cell disease in Indian tribal population: Findings of a multi-centre Indian SCD registry.

BACKGROUND: Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India. METHODS: The ISCDR was introduced along with a three-tier screening process. Its Android-based application incorporates two electronic case report forms for patient data collection over one year. This paper presents a year's data from the ISCDR's 324 patients with SCD. RESULTS: Patients with SCD, aged one to 65 years, exhibited varied clinical manifestations. Most patients (85.2 %) were unaware of their SCD status before enrolling in ISCDR. Moderate to severe anaemia was prevalent (66.05 % and 30.56 %, respectively). Pain was a common complaint (80.86 %; CI: 76.17-85.00), while symptoms of stroke included sudden severe headaches (34.57 %; CI: 29.40-40.02). Common splenic sequestration symptoms included stomach pain (42.90 %; CI: 37.44-48.49) and abdominal tenderness (13.27 %; CI: 9.77-17.46), as a sign. Healthcare utilization was high, with 96.30 % receiving treatment and 83.64 % consuming hydroxyurea. Hospitalization occurred for 38.27 % (CI: 32.95-43.81), and 12.04 % (CI: 8.70-16.09) had blood transfusion during last year. CONCLUSIONS: ISCDR serves as a dynamic digital database on SCD epidemiology, clinical aspects, treatment and healthcare utilization. Notably, many patients lacked prior awareness of their SCD status, underscoring the need for improved awareness and care management. Integrating the registry into the national programme can streamline treatment implementation, prioritize management approaches, and optimize individual benefits.

Strengthening Health System and Community Mobilization for Sickle Cell Disease Screening and Management among Tribal Populations in India: An Interventional Study.

Sickle cell disease (SCD) affects 5% of the global population, with over 300,000 infants born yearly. In India, 73% of those with the sickle hemoglobin gene belong to indigenous tribes in remote regions lacking proper healthcare. Despite the prevalence of SCD, India lacked state-led public health programs until recently, leaving a gap in screening and comprehensive care. Hence, the Indian Council of Medical Research conducted implementation research to address this gap. This paper discusses the development and impact of the program, including screening and treatment coverage for SCD in tribal areas. With a quasi-experimental design, this study was conducted in six tribal-dominated districts in three phases - formative, intervention, and evaluation. The intervention included advocacy, partnership building, building the health system's capacity and community mobilization, and enabling the health systems to screen and manage SCD patients. The capacity building included improving healthcare workers' skills through training and infrastructure development of primary healthcare (PHC) facilities. The impact of the intervention is visible in terms of people's participation (54%, 76% and 93% of the participants participated in some intervention activities, underwent symptomatic screening and demanded the continuity of the program, respectively), and improvement in SCD-related knowledge of the community and health workers (with more than 50% of net change in many of the knowledge-related outcomes). By developing screening and treatment models, this intervention model demonstrated the feasibility of SCD care at the PHC level in remote rural areas. This accessible approach allows the tribal population in India to routinely seek SCD care at their local PHCs, offering great convenience. Nevertheless, additional research employing rigorous methodology is required to fine-tune the model. National SCD program may adopt this model, specifically for community-level screening and management of SCD in remote and rural areas.

Labial Length and Patient Symptomatology: Is There a Correlation?

Background: Labia minora length is used in classification systems and to determine labiaplasty candidacy, with shorter labia leading to nonsurgical recommendations. Objectives: The aim of the study was to investigate the correlation between labia length and symptomatology. Methods: Patients undergoing labiaplasty from January 2017 to May 2023 underwent chart review. Data collected included age, exposed, and total labia length. Patients completed a preoperative survey with possible scores from 0 to 13 to gauge complaints and symptoms. Results: Out of 50 charts with complete data, the average age was 34. Exposed labia lengths were 10.1 mm (right) and 11.4 mm (left); total lengths from sulcus to edge measured 32.0 mm (right) and 33.4 mm (left). Survey scores averaged 6.5 (range, 2-11) median of 7. The correlation between exposed labia length and symptoms yielded Pearson correlation coefficient values (R) of 0.25 for both right and left sides, with coefficient of determination (r 2) values at 0.06. For total labia length, R values were 0.08 (right) and 0.06 (left), and r 2 values were 0.007 (right) and 0.003 (left). Conclusions: The correlation between a patient's exposed and total labia length and reported symptomatology is weak. Patients with longer labia can experience few symptoms, just as those with shorter labia can have a high degree of symptomatology. Rather than use labia length as a primary factor determining labiaplasty candidacy, the focus should be on patient-reported symptoms.

It is just not short stature.

Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth retardation (short stature), developmental delay, facial dysmorphism and hemihypertrophy. The estimated incidence is between 1 case in 3,000 to 1 case in 100,000. We are hereby reporting one such case of postnatal growth retardation with facial dysmorphism and several other features of Russell-Silver syndrome and confirmed by genetic analysis.