Hemophilia Patients Research Articles

Peripheral Blood Lymphocyte Subsets in Factor VIII Inhibitor-Positive Patients with Severe Hemophilia A: A Case-Control Study.

The present study aimed to investigate different peripheral lymphocyte subsets in patients with severe hemophilia A (HA) and factor VIII (FVIII) inhibitor production. For this, age-matched cases of 19 FVIII inhibitor-positive (IP), 21 FVIII inhibitor-negative (IN) and 45 healthy controls were selected for study. Flow cytometry was used to analyze the peripheral lymphocyte subsets, including T, B, natural killer (NK) and NKT cells. The T cell subsets included CD3 + CD4-CD8- [double negative T (DNT)], CD3 + CD4 + CD8+ [double-positive T (DPT)], CD3 + CD4 + CD8- and CD3 + CD4-CD8+ T cells. Pairwise comparisons of absolute lymphocyte subset values were conducted among the three groups. The cut-off value for absolute lymphocyte counts was determined using receiver operating characteristic curve analysis. The results demonstrated that the absolute values of DPT cells in the IN and IP groups were significantly lower than those in the healthy control group (P = 0.007). The DNT values were also lower in severe HA patients with or without inhibitor than those in healthy subjects, but these differences were not statistically significant (P = 0.053). In addition, the absolute value of CD4+ Th cells in the IP group was lower than that in the healthy controls (P = 0.013). Although not statistically significant (P = 0.064), the absolute values of NKT cells were higher in the IN group compared with the IP group, and higher in the IP group compared with the healthy control group. There were no statistically significant differences in total T, B, CD8 + and NK cells among the IN, IP and healthy control groups. The cut-off value for absolute CD4+ Th cells in the IN group was < 598/µl. The decrease in absolute values of CD4+ Th cells in severe HA patients may contribute to the establishment of infused FVIII immune tolerance. If the CD4+ Th value remains > 598/µl, clinicians should be vigilant for possible FVIII inhibitor production, especially on days prior to FVIII exposure.

Efficacy and Safety of Adeno-Associated Virus-Based Clinical Gene Therapy for Hemophilia: A Systematic Review and Meta-Analysis.

Clinical trials of adeno-associated virus (AAV)-based gene therapy have made remarkable progress in recent years. We aimed to perform a systematic review and meta-analysis of the literature to assess the efficacy and safety of AAV-based gene therapy for hemophilia. We systematically searched the Web of Science, Embase, PubMed, and the Cochrane Database of Systematic Reviews databases, for clinical trials involving patients diagnosed with hemophilia and treated with AAV-mediated gene therapy. Data on the annualized bleeding rate (ABR), annualized infusion rate (AIR), the incidence of treatment-related adverse events (TRAEs), severe adverse events (SAEs), and alanine aminotransferase (ALT) elevation were extracted as our outcomes. A total of 12 articles from 11 clinical trials were selected from 868 articles for meta-analysis. Pooled analyses showed that AAV-based gene therapy in hemophilia patients reduced the number of bleeding events and the number of factor infusion events by an approximate average of 7 per year and 103 per year, respectively. Eighty percent, 18%, and 63% of hemophilia patients had elevated TRAE, SAE, and ALT levels, respectively. Moreover, subgroup analysis found a significant reduction in ABR and AIR 2-3 years after the therapy. Additional findings that were not pooled including coagulation factor activity are presented in the accompanying tables. Our analysis supported the efficacy and safety of AAV-mediated gene therapy for hemophilia, providing evidence for its application as a therapeutic option for widespread clinical use in hemophilia patients in the future.

Safety of recombinant activated factor VII for treatment of breakthrough bleeds in patients with congenital haemophilia A and inhibitors receiving emicizumab prophylaxis: Review of the real-world evidence.

Emicizumab is used as a subcutaneous prophylaxis for prevention of bleeding episodes in patients with haemophilia A (HA) with and without inhibitors. While low bleeding rates were observed in clinical trials, patients still experience breakthrough bleeds (BTBs) with emicizumab in the real-world. Current guidelines recommend use of recombinant activated factor VII (rFVIIa) for treatment of BTBs in patients with inhibitors. Due to thrombotic events observed in the HAVEN 1 study, activated prothrombin complex concentrate (aPCC) should be used with caution. The objective of this review is to identify and discuss real-world data on the frequency of BTBs and the safety of concomitant rFVIIa use in patients with inhibitors on emicizumab prophylaxis. A search of the following databases was conducted on 15 July 2022: BIOSIS Previews® , Current Contents Search® , Embase® , MEDLINE® . Search terms included 'real world', 'haemophilia A', and 'emicizumab'. Eleven relevant publications were identified (seven original research articles and four congress abstracts). The frequency of BTBs specifically for HA patients with inhibitors was described in three publications with 5%-56% patients on emicizumab reporting ≥1 bleeding episode. Treatment of these BTBs appeared to be managed according to relevant guidelines. Importantly, no thrombotic complications occurred during concomitant rFVIIa use. Due to the nature of real-world studies, direct comparison of the results between studies is limited. However, real-world data show that BTBs in inhibitor patients during emicizumab prophylaxis can be safely treated with rFVIIa.

Thrombotic Disease in Hemophilic Patients: Is This a Paradox in a State of Hypocoagulability?

Thrombotic Disease in Hemophilic Patients: Is This a Paradox in a State of Hypocoagulability?

Emicizumab prophylaxis in infants: Single-centre experience.

The hallmark of haemophilia A (HA) therapy is prophylaxis, aimed at spontaneous bleeding prevention. Emicizumab provides a viable alternative to intravenous factor replacement therapy. However, data on its use in infants are limited. This single-centre open arm prospective study reports on emicizumab prophylaxis in infants. We included severe HA patients under 1 year who started emicizumab prophylaxis since 2018, with longitudinal follow-up. The study collected data on demographics, clinical and laboratory variables, the occurrence of bleeding events, surgeries and treatment outcomes. Of the 27 enrolled infants, whose median age at prophylaxis initiation was 7 months, 24 primarily choose to start emicizumab therapy (3/27 switched from FVIII prophylaxis due to development of FVIII inhibitors). The median age for prophylaxis initiation decreased to 3 months in 2023. Following emicizumab initiation, the median calculated ABR decreased, and no intracranial haemorrhages were observed. Thrombin generation showed a significant improvement in peak height and endogenous thrombin potential at steady state after a loading period. Our study highlights a shift towards early prophylaxis in the era of non-replacement therapies. It underscores the need for continuous evaluation and refinement of treatment approaches, emphasizing personalized care and diligent monitoring in the evolving field of paediatric haemophilia care.

Health-related quality of life of Indonesian children with hemophilia.

Measuring health-related quality of life (HRQoL) in haemophilia patients provides a comprehensive patient's functional and the impact of the disease and its treatment. This study aimed to assess the HRQoL of haemophilia children and related factors. We conducted a cross-sectional study from 6 April 2019 to 29 April 2019. We recruited children aged 8-16years old who were members of the Yogyakarta Province Branch, Indonesian Haemophilia Society. Children filled in the Indonesian Haemo-QoL short-version questionnaire that consists of nine dimensions, and the score ranges from 0 to 100, in which a higher score shows a higher impartment. Forty-four children participated in this study. The mean age was 11.99+2.49. The median age of the first bleeding episode was 5years, and the median frequency of spontaneous bleeding during the previous year was 13.5. All children received antihemophilic factor (AHF) on-demand; most (81.8%) received AHF in the advanced symptoms. The mean total score of HRQoL was 42.7±15.5, with the highest impairment in the family dimension, with a mean score of 68.0±22.3. The severity of haemophilia was significantly correlated with the total score of HRQoL and dimensions of physical health, feeling, view, and family (effect size ranges from 0.30 to 0.42). The frequency of bleeding was significantly related to the total score of HRQoL and the feeling dimension (effect size of 0.47 and 0.34). The HRQoL of our study was lower than in countries where AHF prophylactic is provided. More severe haemophilia and more frequent bleeding significantly lower HRQoL.

Better Communication for Better Management of Persons with Hemophilia: Results from a Patients'-Clinicians' Project to Address the New Therapeutic Landscape.

Applying the Delphi method, this study aims at characterizing the perceptions and needs of physicians, individuals with hemophilia, and their caregivers in relation to the management of routine visits during regular follow-ups. A single structured questionnaire, prepared by an advisory board, was administered to 139 participants, comprising hemophilia treaters, patients and caregivers, during the period from May to June 2023. Agreement (defined following the Delphi method as developed by RAND Corporation) was reached on several topics. The Principal Component Analysis methods identified the four most relevant areas where consensus was reached among the interviewees, underscoring the necessity for in-depth discussions during routine visits: (1) medical aspects related to symptoms, life-limitations, pain, etc.; (2) non-medical related aspects (ambitions, lifestyle, network, etc.); (3) logistical-organizational aspects (home-hospital distance, alternative modalities of communication); and (4) visit duration and telemedicine integration. The results of both the Delphi and Principal Component Analysis underline that the care of individuals with hemophilia extends beyond merely prescribing drugs or treatment regimens. Instead, it necessitates consideration of numerous variables from both therapeutic and non-therapeutic domains, all of which are deemed important for the holistic management of the individuals. As a result, these aspects are routinely discussed and addressed during visits.

Cartilage Destruction by Hemophilic Arthropathy Can Be Prevented by Inhibition of the Ferroptosis Pathway in Human Chondrocytes.

(1) Background: Around 50% of hemophilia patients develop severe arthropathy, with even subclinical hemorrhage in childhood potentially leading to intra-articular iron deposition, synovia proliferation, neoangiogenesis, and eventual damage to articular cartilage and subchondral bone. Treatments typically include coagulation factor substitution, radiosynoviorthesis, and joint replacement for advanced cases. This study aims to elucidate programmed cell death mechanisms in hemophilic arthropathy (HA) to identify novel treatments. (2) Methods: Human chondrocytes were exposed to lysed/non-lysed erythrocytes, ferroptosis inducer ML-162, cytokines (IL-1ß, TNFα), and ferric citrate, then assessed for metabolic activity, DNA content, and cell death using Alamar Blue, cyQUANT, and Sytox assays. Three-dimensional spheroids served as a cartilage model to study the effects of erythrocytes and ML-162. (3) Results: Erythrocytes caused significant cell death in 2D cultures (p < 0.001) and damaged 3D chondrocyte spheroids. Iron citrate and erythrocytes reduced chondrocyte DNA content (p < 0.001). The ferroptosis pathway was implicated in cell death, with no effects from apoptosis and necroptosis inhibitors. (4) Conclusions: This study offers insights into HA's cell death pathway, suggesting ferroptosis inhibitors as potential therapies. Further studies are needed to evaluate their efficacy against the chronic effects of HA.

Assessment of oral health awareness and hygiene practice in hemophilic patients in Indore: A cross-sectional study

: Haemophilia is a genetic X linked recessive bleeding disorder characterized by a deficiency or absence of certain clotting factors in the blood, primarily factors VIII (haemophilia A) or factor IX (haemophilia B). Dental caries and periodontal diseases are two main oral diseases affecting majority of population, but their effects are enhanced in hemophiliacs and medically compromised patients. There is a lack of epidemiological studies regarding oral health and oral hygiene of hemophilic patient especially in central India. This study therefore, aimed to evaluate the oral hygiene awareness and hygiene practices of patients with hemophilia in Indore district. This cross-sectional study was conducted on 30 hemophilic patients who were selected via snow ball sampling technique. The patients who were ready to participate voluntarily in the study were included. A study questionnaire in Hindi and English was given to the patients to obtain their knowledge about oral hygiene and dental health awareness.: Thirty hemophilic patients participated in the study with a mean age of 20 ±15 years. All the participants were male. Although hemophilic patients were conscious of oral hygiene, the study found most of them had poor dental practices. The majority of participants (56.67%) reported of using soft-bristled brushes. Only 56.67% of the participants reported cleaning their mouths after meals and having seen gum bleeding. The majority of hemophilia patients (46.15%) reported using Factor VIII, while some also used Tranexamic acid (15.39%).: Oral hygiene is crucial for everyone, but it holds particular importance for individuals with hemophilia. Good oral hygiene reduces the need for invasive dental treatments, minimizing potential complications.

HOMOEOPATHIC MANAGEMENT OF TARGETED HAEMARTHROSES IN INHIBITOR POSITIVE HAEMOPHILIAC: A CASE REPORT

Haemarthroses is common presentation in haemophilia patient. Due to recurrent use of clotting factor concentrates for treatment and prophylaxis, of which about 20 % of patients produce antibodies to factor VIII and factor IX. This results in development of inhibitors in such patients which complicates the case even more. Homoeopathy the alternative form of treatment can be used in such case. This case report presents the management of haemarthroses in a haemophilia inhibitor. Well selected homoeopathic similimum helped in reversing the haemophilic arthropathy in left knee joint of the patient and even controlled the recurrence of the haemarthroses in target joint. The result was assessed using Hemophilia joint health assessment scale (HJHS). The result of before and after treatment was extremely significant with a p value of 0.0009 The individual curative response of the case was assessed using Modified naranjo criteria for homoeopathic case reporting, casual attribution (MONARCH).

Effectiveness of emicizumab in preventing bleeding events in severe and moderate hemophilia A: A single-center experience in Bangladesh.

Emicizumab is a monoclonal antibody that bridges activated factor IX (FIX) and factor X (FX) to replace the function of missing activated factor VIII (FVIII) in hemophilia A patients irrespective of FVIII inhibitor status. This study assessed the effectiveness of emicizumab in preventing bleeding episodes in patients with hemophilia A. This observational study included patients with moderate to severe hemophilia A who were undergoing episodic FVIII replacement therapy. The primary endpoint was the difference in annualized bleeding rates (ABR) and the secondary endpoint was the difference in Hemophilia Joint Health Score (HJHS) before and after emicizumab prophylaxis. A total of 30 male hemophilia patients were included, the mean age was 16.7 (SD: ±8.1) years, and most of them had moderate hemophilia A [63.3%]. Before prophylaxis, the median ABR was 48 (interquartile range [IQR]: 35-60), and 93.3% of patients had ABR greater than eight, whereas after prophylaxis the median ABR decreased significantly (median [IQR]: 0 [0.0-0.4], p<0.001), and 56.7% had zero bleeds. ABR was not significantly different in patient with and without FVIII inhibitors. The HJHS scores significantly improved after prophylaxis (10 vs. 2.5, p<0.001). The bleeding events were reduced significantly (23 vs. 0.0, p<0.001), and zero new target joints were reported after prophylaxis. Most of the patients [93.3%] did not face any serious adverse events after prophylaxis. Emicizumab prophylaxis was associated with a significantly lower rate of bleeding events among participants with hemophilia A, regardless of inhibitor status.

Bleeder's Femur: The Proximal Femoral Morphology in Hemophilic Patients Who Underwent Total Hip Arthroplasty.

Patients with hemophilia (PWH) constantly suffer hemarthrosis, which leads to deformity of the hip joint. Therefore, PWH who are going to receive total hip arthroplasty (THA) should be exclusively treated before the surgery with careful measurement of their proximal femur. Hence, we conducted a retrospective study to explore the anatomical parameters of and differences in the proximal femur in hemophilic patients who underwent THA. The retrospective study comprised data of adult patients who received total hip arthroplasty from 2020 to 2022 in the research center. Patients having a diagnosis of hemophilic arthritis and received THA were included in experimental group, and patients with hip arthritis or femoral head necrosis were taken as control group. Parameters including femoral offset, neck-shaft angle (NSA), medullary cavity of 20 mm above mid-lesser trochanter level (T+20), mid-lesser trochanter level (T), and 20 mm blow it (T-20), and canal flare index (CFI), femoral cortical index (FCI) were measured on X-ray and CT images with PACS by two independent doctors. Data was analyzed by SPSS 20. Kolmogorov-Smirnov test was used to test data normality. Student's t-test was performed between PWH and control group. p < 0.05 was considered statistically significant. Among the 94 hips, 39 (41.5%) were included in group hemophilia and 55(58.5%) in control group. The mean age of the patients was 49.36 ± 12.92 years. All cases were male patients. Data demonstrated significantly smaller femoral cortical index (FCI), femoral offset, medullary cavity of 20 mm above mid-lesser trochanter level, mid-lesser trochanter level, and 20 mm below it, and neck-shaft angle (NSA) was obviously larger in PWH than control group (p < 0.05). No significant difference was found in canal flare index (CFI). Hemophilic patients undergoing THA were prone to longer and thinner proximal femur. Preoperative morphological analysis of femur is recommended.

Health-related quality of life and its associated factors among hemophilia patients: experience from Ethiopian Hemophilia Treatment Centre

BackgroundHemophilia is a rare genetic condition that is often overlooked and underdiagnosed, particularly in low-income countries. Long-term spontaneous joint bleeding and soft tissues can have a significant negative impact on a patient’s health-related quality of life (HRQoL). The objective of this study was to assess HRQoL and its associated factors in Ethiopian patients with hemophilia.MethodsA cross-sectional survey was conducted among patients with hemophilia at Tikur Anbessa Specialized Hospital (TASH) in Addis Ababa, Ethiopia. Patients were recruited consecutively during follow-up visits. The European Quality of Life Group’s 5-Domain Questionnaires at five levels (EQ-5D-5L) and Euro Quality of Life Group’s Visual Analog Scale (EQ-VAS) instruments were used to assess HRQoL. The EQ-5D-5L utility score was computed using the disutility coefficients. We applied the Krukal-Wallis and Mann–Whitney U tests to determine the differences in EQ-5D-5L and EQ-VAS utility scores between patient groups. A multivariate Tobit regression model was used to identify factors associated with HRQoL. Statistical analyses were performed using STATA version 14 and statistical significance was determined at p < 0.05.ResultsA total of 105 patients with hemophilia participated in the study, with a mean (standard deviation (SD) age of 21.09 (± 7.37] years. The median (IQR) EQ-5D-5L utility and EQ-VAS scores were 0.86 (0.59–0.91) and 75 (60.0–80.0), respectively. Age was significantly negatively associated with the EQ-5D-5L utility index and EQ-VAS (β = -0.020, 95 CI = -0.034, -0.007) and β = -0.974, 95% CI = -1.72, 0.225), respectively. The duration since hemophilia diagnosis (β-0.011, 95% CI, 0.001–0.023) and living out of Addis Ababa (β = -0.128, 95% CI, -0.248-, -0.007) were also significantly negatively associated with the EQ-5D-5L utility index..ConclusionThe median EQ-5D-5L utility and EQ-VAS scores of patients with hemophilia were 0.86 (0.59–0.91) and 75 (60.0–80.0), respectively. Older age, living far from the Hemophilia Treatment Center (HTC), and longer duration since diagnosis were significantly negatively associated with HRQoL. HRQoL may be improved by providing factor concentrates, decentralizing HTCs in different parts of the country, increasing awareness of bleeding disorders among health professionals, and providing psychosocial support to affected patients.

Comparison of posture and muscle stiffness between adolescent boys with haemophilia and age-matched healthy peers: An observational comparative study.

Haemophilic arthropathy is likely to influence posture and muscle stiffness in adolescent male haemophilia patients (HP). This study aimed to investigate the possible change in upright standing posture and stiffness of the superficial postural muscles in HP. Twenty-two HP aged between 12 and 19years and twenty-two healthy peers were included in the study. The photogrammetry was used to assess the upright standing posture from sagittal and frontal planes. Also, stiffness of the superficial postural muscles was evaluated using the myotonometry. A significant difference was found in the craniovertebral, lumbar lordosis, knee flexion-valgus, and ankle plantar flexion angles between the groups (p< 0.05). Craniovertebral, knee flexion, and knee valgus angles were lower; whereas lumbar lordosis and ankle plantar flexion angles were higher in HP compared to the healthy peers. Stiffness of the rectus femoris muscle was lower in HP (p< 0.001). This study revealed that the ankle, knee, lumbar, and craniovertebral segments' posture angles were changed and the stiffness of the rectus femoris muscle decreased in HP. Postural alterations and reduced rectus femoris stiffness should be considered in management of the musculoskeletal complications of haemophilia.

Seroprevalence of Hepatitis B and Hepatitis C in People with Haemophilia at a Tertiary Care Centre, Assam, India: A Cross-sectional Study

Introduction: Prior to the advent of recombinant factor products, the treatment of haemophilia was mainly based on the administration of direct blood products like whole blood, Fresh Frozen Plasma (FFP), and cryoprecipitates. This led to a high incidence of transfusion-transmitted infections like Hepatitis B, Hepatitis C, and Human Immunodeficiency Virus (HIV) . Aim: To study the seroprevalence of Hepatitis B and Hepatitis C in people with haemophilia at Assam Medical College. Materials and Methods: This cross-sectional observational study was conducted at Assam Medical College, Dibrugarh, Assam on 73 haemophilia patients in the month of November 2023. Ethical clearance and informed consent were obtained. Demographic details and treatment-related history were taken, and blood samples were analysed to assess the seroprevalence of Australian antigen (HBsAg) and anti-HCV. The prevalence of Hepatitis B and C was studied with respect to the severity of the disease and treatment received. Statistical analysis was performed using Statistical Packages for Social Sciences (SPSS) version 17.0, and the level of significance was set at (p&lt;0.05). Results: Out of the 73 patients included in the study, 62 participants (84.9%) had haemophilia A, while rest 11 (15.1%) had haemophilia B. The participants were distributed based on the severity of the disease into mild, moderate, and severe categories. Out of the 73 patients, 14 patients (19.2%), 20 patients (27.4%), and 39 patients (53.4%) belonged to the mild, moderate, and severe categories, respectively. Most of the patients belonged to the age of less than 30 years and highest number of patients in the age group of 11-20 years (35.7%). The overall positivity for Hepatitis B and C among all haemophilia patients was 1.4% and 5.5%, respectively. The prevalence of both Hepatitis B and C was higher in patients who had the severe form of haemophilia. Out of the 35 patients who received only recombinant factors, only one showed seropositivity for anti-HCV, whereas three patients were detected to be anti-HCV positive and one patient to be HBsAg positive among 38 patients who received both factors and FFP/ cryoprecipitates in their lifetime. Conclusion: Haemophilia patients are at a higher risk of developing transfusion-transmitted infections, which can cause multiple life-threatening complications. These complications can be easily prevented by early screening and early initiation of treatment. People with the severe form of the disease, especially those with a history of receiving direct blood products, are more prone to developing these infections. However, with the advent of recombinant factors, the incidence has come down.

Total Hip Arthroplasty in Hemophilic Patients: are their Results Similar to those of Nonhemophilic Patients?

Total hip arthroplasty (THA) is the mainstay therapy for patients with terminal hemophilic arthropathy of the hip. However, the largest case series published between 2017 and 2023 in the literature on THA in patients with hemophilia have found a higher 1-year infection rate (8.1% versus 3.4%) in hemophilia patients than in the general population, a higher rate of in-hospital bleeding complications (38.7% versus 16.1%), a higher length of stay (6 days versus 3 days) and a higher 30-day readmission rate (22.6% versus 4.1%). Finally, a lower 5-year survival rate has also been observed in hemophilia patients than in the general population (91.9% versus 95.3%). In the last decade there have been dramatically positive improvements in implant designs and hematological treatment, and therefore it does not seem that THA in hemophilia is so far from that in osteoarthritic patients.

The Concizumab Pen-Injector is Easy to Use and Preferred by Hemophilia Patients and Caregivers: A Usability Study Assessing Pen-Injector Handling and Preference.

Concizumab is a once-daily prophylactic treatment developed for patients with hemophilia A or B (HA/HB) with or without inhibitors. It is the first treatment for hemophilia patients to be delivered subcutaneously using a pre-filled, multi-dose pen-injector with a 4 mm, 32 G needle. To investigate patient and caregiver handling and preference for the concizumab pen-injector compared with current injection systems used to treat hemophilia. This preference and handling study was conducted in accordance with authority guidelines for approval of new devices and included adults and adolescents with HA/HB with or without inhibitors and caregivers currently administering factor replacement therapy or factor VIII mimetic (emicizumab) therapy. All participants underwent a training session, followed by a test session during which participants independently administered a single pen-injection into an injection pad or manikin. Time to train, time to prepare and inject, and number of complete independent injections handling the pen were assessed. Participants evaluated handling and preference via the Hemophilia Device Handling and Preference Assessment Questionnaire. 80 participants (44 adults, 21 adolescents, 15 caregivers) currently using factor replacement therapy (n=41, 51%) or emicizumab (n=39, 49%) participated. Average training time and time to complete an injection were 7 min 49s and 1 min 21s. In total, 98% of independent complete injections were achieved at first attempt. 98% (n=78; 95% confidence interval [CI] 91-100%) of participants assessed the pen-injector as either "easy" or "very easy" to use. 88% of participants preferred the pen-injector (n=70; 95% CI 78-94%) over their current injection system, and 9% (n=7) reported "no preference". Participants found the concizumab pen-injector easy to learn and easy to use and preferred it over their current injection systems.

Coping Patterns and Psychosocial Distress in Hemophilia Patients: A Cross-sectional Study from South Gujarat, India

Abstract Introduction: Hemophilia is hereditary genetic disorder with defects in normal blood clotting mechanisms. It is characterized by a chronic course requiring lifelong treatment. Persons with hemophilia (PWH) are known to have significant stress due to socio-occupational impairments caused due to the illness. It affects the treatment outcomes adversely. There are few studies from India that have looked at the factors and prevalence of psychiatric comorbidities in this population. Aim: To study coping patterns, perceived stress, anxiety, and depression profiles in adult patients of hemophilia. Materials and Methods: A purposive sample of 52 PWH was collected. We used a semi-structured questionnaire to obtain demographic data, illness profiles, and experience of complications and concerns of the participants. Scales used were Beck’s depression inventory, Anxiety scale, Holmes and Rahe Social Readjustment Rating Scale scale, and COPE questionnaire. Results: About 41% of the individuals had depression and 26.92% of individuals had trait anxiety. The state-dependent anxiety was seen in 69%. About 50% were found to be susceptible to stress-related illness. The adaptive coping style, namely, problem-focused coping, was associated with lower scores on the screening instruments. The presence of certain complications was associated with higher use of maladaptive coping strategies like the use of emotion and avoidance-focused coping. Conclusions: Considering the impact and morbidity, screening for psychological distress and analysis of coping styles of PWH should be a part of routine care.

Quality of Life among Haemophilic Children in Central Madhya Pradesh, India: A Cross-sectional Study

Introduction: Quality of Life (QoL) has recently become a focus of research in haemophilia, as children with haemophilia miss out on opportunities to reach their full potential during school and later in life. This leads to emotional and behavioural problems, family issues, and a decrease in Health-related Quality of Life (HRQoL). There is very limited data from the state of Madhya Pradesh, India, to assess the QoL in haemophilia patients. Aim: To study the clinical profile of haemophilic children and assess their QoL. Materials and Methods: The present hospital-based crosssectional study was conducted in the Department of Paediatrics, Gandhi Medical College, Bhopal, Madhya Pradesh, India, from January 2019 to December 2019. A total of 49 children (Institutional incidence), aged from 4-12 years, with factor VIII/ IX deficiency who presented in the Paediatric ward of the study Institution for factor transfusion, were included in the study. The study population was divided into two groups with children aged (group ) and children aged 8-12 years (group II). A detailed clinical history was obtained from the accompanying parent/guardian, and QoL was measured using the Haemophilia QoL (Haemo-QoL) questionnaire. Scores achieved in each dimension, as well as, the total score were combined on a scale ranging from 0 to 100. High values indicate high impairment in QoL. The meanings of different scales like Standardised and Transformed Scale Scores (TSS) of Haemo-QoL were analysed using the student’s t-test. Results: In the present study, haemophilia A was more common than haemophilia B. All patients who attended the paediatric ward for factor transfusion were males, with a mean age of 8.37±2.56 years. It was also observed that the proportion of patients who were diagnosed early was significantly higher in the 4-7 years age group compared to the 8-12 years age group of patients (p-value&lt;0.05). The present study revealed that the mean overall scores on the Haemo-QoL for the age groups 4-7 years and 8-12 years were 41.92±17.95 and 51.84±16.36, respectively. The highest impairment was in the physical health, school and sports, and family dimensions of QoL. Conclusion: The QoL is poor among children in both age groups. The current study also showed that as age advances, the QoL of haemophilia patients becomes poorer.

Overview of Patients with Hemophilia in China: Demographics, Diseases, Treatment, and Health Status.

In China, there were over 65,000 hemophilia patients according to estimations requiring overall description. However, former Chinese studies related to hemophilia were based on data of relatively small sample size from single-center or selected multi-centers in specific areas. This study is aimed to provide an overview of patients with hemophilia in China and basic information for optimized hemophilia care and policy decisions in the future. We cooperated with the biggest patient organization of hemophilia in China, Hemophilia Home, got access to over ten thousand registered patients with hemophilia and conducted a national representative online survey in 2021. Descriptive statistics were conducted to describe the mean and standard deviation for continuous variables and numbers and proportions for categorical variables. Nine hundred and fifty patients with hemophilia aged 0-71 years were included in our analysis and divided into 538 children and 412 adults. Compared to international research, consistent results were found regarding the proportions of hemophilia types and hemophilia severity, while Chinese patients had less opportunity to receive the formal education and the lower rate to be employed or married. Although children with hemophilia had higher household income, timely treatment, and more prophylaxis treatment leading to better clinical outcomes and higher HRQoL than adults, there were still more annual bleeds, chronic pains, and lower EQ-VAS scores especially in adults than in other countries. Our findings suggest the urgency for promoting hemophilia care and improving the social adaptation of hemophilia patients in China.