Prevalence Of Hemophilia Research Articles

The prevalence of Hemophilia A in males in Africa: evidence from a systematic review and meta-analysis

BackgroundHemophilia A (HA) is an X-linked recessive bleeding disorder characterized by reduced or absent coagulation factor (F) VIII activity. The empirical evidence on the prevalence of HA in Africa has reported inconsistent findings and seems to present such a wide range of prevalence that it is hard to swiftly ascertain its average extent. Hence, this review aimed to pool the results of primary studies reporting the prevalence of HA into a single estimate in the region.MethodsWe followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Articles published in EMBASE, PubMed, Web of Science, SCOPUS, Science Direct, and Cochrane Library databases were searched. Observational studies revealing the prevalence of HA in Africa between 2010 and 2023 were incorporated. We assessed the quality of each study using the Newcastle-Ottawa quality assessment tool. The prevalence of HA was estimated as the cases (the sample size) per 100,000 population multiplied by 1000. To produce the pooled estimate, Der Simonian random-effects models were computed with Metaprop on the STATA command. The studies’ heterogeneity was assessed using the I-squared (I2) value test and the Galbraith plot. A funnel plot was conducted to evaluate publication bias.ResultsOf the 337 studies accessed, we included 15 that fulfilled the eligibility criteria. The random-effect model meta-analysis demonstrated the overall pooled prevalence of HA was 6.82 cases per 100,000 persons (95% confidence interval: 5.16, 8.48) with heterogeneity (I2 = 0.00%, p < 0.001).ConclusionsThis systematic review and meta-analysis revealed that HA is an alarming problem that may pose a future threat to public health in Africa. Given the detrimental effects of the disease on health and the complications involved, we recommended that African regions increase patient access to factor VIII medication, improve carrier detection rates, and take the initiative toward the development and access to gene therapy.

Орфанная патология в республике Северная Осетия – Алания: структура, популяционно-генетические особенности, проблемы и перспективы

Currently, there are more than 8000–10000 rare disease (RDs), among which 75–80% are hereditary. In the Russian Federation (RF), patients are provided medical care in accordance with two lists: 17 chronic progressive and life-threatening diseases (RLTDs) and 14 high-cost nosologies (HCNs). The study was aimed to assess the range, prevalence, and genetic epidemiological characteristics of the RDs from the lists of RLTDs and HCNs in the Republic of North Ossetia–Alania and RF in general. We determined the number of patients from the RLTD (a total of 18,744 people in the RF, among them 8713 children; 129 and 42 people, respectively, in the Republic of North Ossetia–Alania) and HCN (28727 people/13454 children in the RF; 554 and 64 in the Republic of North Ossetia–Alania) lists and calculated the prevalence per 100,000 population. The global prevalence of RDs was estimated using the Orphanet database. The average prevalence of RLTDs in the whole population of the RF was 11.51 cases and that among children was 25.08. Similar data were obtained for the Republic of North Ossetia–Alania (19.38 and 29.44, respectively). It was found that idiopathic thrombocytopenic purpura, disorder of the complement system, maple syrup urine disease, porphyria were more common in the Republic of North Ossetia–Alania than in the RF in general, while galactosemia was less common. The analysis of disorders from the RLTD list has shown lower prevalence of hemophilia and pituitary dwarfism in the Republic of North Ossetia–Alania compared to the RF and Orphanet, along with the higher prevalence of type VI mucopolysaccharidosis, hemolytic uremic syndrome, and systemic juvenile rheumatoid arthritis. In the Republic of North Ossetia–Alania, the features of the range of genetic variation in the genes РАН (phenylketonuria) and CFTR (cystic fibrosis) have been identified. Thus, assessment of the RD prevalence in the regions is important and essential for raising awareness of medical personnel, as well as for expansion and improvement of medical care provision to patients with RLTDs and HCNs.

Haemophilia care in Asia: Learning from clinical practice in some Asian countries.

The healthcare systems in Asia vary greatly due to the socio-economic and cultural diversities which impact haemophilia management. An advisory board meeting was conducted with experts in haemophilia care from Asia to understand the heterogeneity in clinical practices and care provision in the region. The overall prevalence of haemophilia in Asia ranges between 3 and 8.58/100,000 patients. Haemophilia A was more prevalent as compared to haemophilia B with a ratio of around 5:1. There is under-diagnosis in the region due to lack of diagnosis, registries and/or lack of appropriate facilities in suburban areas. Most patients are referred to the haematologists by their families or primary care physicians, while some are identified during bleeding episodes. Genetic testing faces obstacles like resource constraints, services available at limited centres and unwillingness of patients to participate. Prophylaxis is offered for people with haemophilia (PWH) with a severe bleeding phenotype. Recombinant factors are approved in most countries across the region and are the preferred therapy. The challenges highlighted for not receiving a high standard of care include patients' reluctance to use an intravenous treatment, poor patient compliance due to frequency of infusions, budget constraints and lack of funding, insurance, availability and accessibility of factor concentrates. Prevalence of neutralizing antibodies ranged from 5% to 20% in the region. Use of immune tolerance induction and bypassing agents to treat inhibitors depends on their cost and availability. Haemophilia care in Asia has evolved to a great extent. However, some challenges remain for which a strategic approach along with multi-stakeholder involvement are needed.

Prevalence of Hemophilia and Clinicodemographic Characteristics of Hemophilic Patients Aged ≤ 18 Years in Thi-Qar, Iraq.

Objectives. This study aims to determine the prevalence of hemophilia in Thi-Qar, Iraq and study clinical and demographic characteristics of patients with hemophilia. Methods. In this cross-sectional study, data were obtained by reviewing all patient medical records and interviewed with the patients and their parents in 2022. The total number of patients enrolled for this study was 110 children. Results. The prevalence of hemophilia in Thi-Qar was 9.5/100 000 population (18.7/100 000 males). Factor VIII inhibitors were positive in 13.1% of patients with hemophilia A (HA). Target joints were developed among 41.4% and 27.3% of patients with HA and hemophilia B, respectively. Hepatitis C virus was positive in 3% of those with HA. Inhibitors development and arthropathy were more among those with severe disease (22% and 46.3%, respectively). Conclusion. Hemophilia prevalence in Thi-Qar was higher than the total prevalence in Iraq reported by World Federation of Hemophilia in 2022.

Pediatric Hemophilia: A Study of Prevalence and Risk Factors in Nineveh Province

Hemophilia is a severe, hereditary clotting factor deficiency. Pediatric hemophilia treatment requires a multidisciplinary approach. Hemophilia should be evaluated in the newborn period if there is exceptional bleeding or a positive family history. The current study sought to determine the prevalence of hemophilia causes in children in Nineveh province. Patient information was gathered, and hemophilia factor testing was done at Ibn Sina Teaching Hospital. This study included 254 children aged less than a year to ten years. All patients were clinically assessed, and factor testing was carried out using the Staco kits. Blood samples were collected between March 2021 and March 2023. Blood type was also determined for all trial participants. Factor F-VIII had the greatest infection rate (203), followed by vWF (34) and F-IX (15). A total of 22 children with both F-VIII and vWF were included. Hemophilia factors (F-VIII, F-VII, and vWF) are most prevalent during ages &lt;1-4 years. Males had a higher incidence of hemophilia than females. Blood types O+, A+, and B+ had the greatest rates. A correlation at (P&lt;0.05) was found between the F-XIII, F-VIII, and F-IX hemophilia factors and age groups. There are no substantial correlations between hemophilia factors and blood types. To reduce the number of cases, patients must be carefully followed up and treated, and the family's history must be tracked to avoid future infections.

The World Federation of Hemophilia World Bleeding Disorders Registry: insights from the first 10,000 patients

BackgroundThe prevalence of hemophilia varies globally, with close to 100% of patients diagnosed in high-income countries and as low as 12% diagnosed in lower-income countries. These inequalities in the care of people with hemophilia exist across various care indicators. ObjectivesThis analysis aims to describe the clinical care outcomes of patients in the World Bleeding Disorders Registry (WBDR). MethodsIn 2018, the World Federation of Hemophilia developed a global registry, the WBDR, to permit hemophilia treatment centers to collect clinical data, monitor patient care longitudinally, and identify gaps in management and treatment. ResultsAs of July 18, 2022, 10,276 people with hemophilia were enrolled from 87 hemophilia treatment centers in 40 countries. Nearly half (49%, n = 5084) of patients had severe hemophilia; 99% were male, 85% had hemophilia A, and 67% were from low-middle-income countries. Globally, the age of diagnosis for people with severe hemophilia has improved considerably over the last 50 years, from 82 months (∼7 years) for those born before 1980 to 11 months for those born after 2010, and most prominently, among people with severe hemophilia in low- and low-middle-income countries, the age of diagnosis improved from 418 months (∼35 years) for those born before 1970 to 12 months for those born after 2010. Overall, the age of diagnosis of people with hemophilia in low- and low-middle-income countries is delayed by 3 decades compared to patients in upper-middle-income countries and by 4 decades compared to patients in high-income countries. ConclusionData reveal large treatment and care disparities between socioeconomic groups, showing improvements when prophylaxis is initiated to prevent bleeding. Overall, care provided in low-income countries lags behind high-income countries by up to 40 years. Limitations in the interpretation of data include risk of survival and selection bias.

Foundations of hemophilia and epidemiology.

Hemophilia, a congenital coagulopathy characterized by a deficiency in coagulation factor VIII (hemophilia A) or factor IX (hemophilia B), results in a tendency of bleeding proportional to the lacking factor. Most bleeds in patients with hemophilia occur in their joints and muscles, and because of these bleeding episodes, patients may end up developing musculoskeletal alterations resulting from hemophilic arthropathy, even receiving hemostatic treatment. The third edition of the World Federation of Hemophilia's Guidelines for the Management of Hemophilia defines 12 principles that encompass all the different types of multidisciplinary care required by people with hemophilia, one of these being clinical and epidemiological research. The expected number of patients with hemophilia across the world has been estimated at 1125 000, most of them undiagnosed, and the total number of patients with severe hemophilia at 418 000 males. Data available from medium and high-income countries show that the prevalence at birth (incidence) and the prevalence of hemophilia differ, which means that patients with hemophilia are at a disadvantage in terms of life expectancy as compared with the general population. In medium-to-high-income countries, the life expectancy disadvantage of patients with hemophilia A and B as compared with the rest of the population is 30% and 24%, respectively. This life expectancy disadvantage is much greater in countries with more limited access to treatments for hemophilia.

POSTER ABSTRACTS

POSTER ABSTRACTS

Utilization of Fresh Frozen Plasma and Cryoprecipitate in Factor VIII and Factor IX Deficient Hemophilia Patient

Haemophilia is one of the most common causes of inherited bleeding disorder resulting from deficiency of coagulation factor VIII or factor IX. Ideally, replacement should be done with factor concentrate. Due to economic constraints associated with its procurement, bleeding episodes are regularly dealt with Fresh Frozen Plasma (FFP) or cryoprecipitate in low-resource countries. This study was carried out to compare the utilization profile and clinical characteristics of haemophilia patients receiving FFP and cryoprecipitate for replacing clotting factor deficiency. This cross-sectional comparative study was conducted in the day care unit of the Department of Transfusion Medicine of Bangabandhu Sheikh Mujib Medical University between 2 groups of haemophilia patients receiving either cryoprecipitate or FFP for treatment. Out of the total 100 haemophilia patients, 50 were treated with cryoprecipitate and 50 with FFP. In FFP group, the majority of patients (48% in cryoprecipitate group and 36% in FFP group) were in the age group of more than 5 to 10 years followed by 11 to 15 years age (24% versus 30%) with a mean SD of age in cryoprecipitate group and FFP group being 11.78±5.61 and 13.42±6.12 years, respectively. About 33 (66.0%) had a history of bleeding following trauma and 32 (64.0%) had a history of spontaneous bleeding among the patients in cryoprecipitate group as a cause of swelling/bleeding and in FFP group, 23 (46.0%) had history of spontaneous bleeding followed by 23 (34.0%) with history of bleeding following trauma. Regarding the type of bleeding, oral bleeding was most common, followed by soft tissue bleeding in both group (40.0% versus 38.0%). Presence of ecchymosis in both groups was statistically significant. The difference in type of haemophilia between the two groups was statistically significant (p&lt;0.001) with a prevalence of haemophilia A of about 88%. The life expectancy of haemophilia patients is increasing dramatically day by day with successful and effective treatment with the appropriate plasma component. Cryoprecipitate is better than FFP as there is less chance of volume overload minimizing leucocyte induced non-haemolytic febrile transfusion reaction and rapid correction of coagulation factor.

Hemophilia in the south of Tunisia.

Hemophilia is a rare constitutional hemorrhagic disorder. There is insufficient epidemiological data on hemophilia in Tunisia. To describe the epidemiological, clinical, therapeutic, and outcome of a cohort of patients with hemophilia in southern Tunisia. A retrospective study was conducted on patients with hemophilia at the Hemophilia Treatment Center of Southern Tunisia in Sfax over 38 years (from January 1982 to December 2020). Data were collected in a regional hemophilia registry of the South Tunisian center. We collected 141 cases of hemophilia, 85% of whom had hemophilia A and 15% had hemophilia B. The severe form represented 65%, followed by the moderate form at 25%. The prevalence of hemophilia was 4.4 in 100 000 population. Family history of hemophilia was found in 70%. The mean age of patients at diagnosis was 28 months. Hemophilia was detected in 87% of cases after hemorrhagic syndrome. Bleeding occurred mainly in hemarthrosis (73%), hematoma (70%), and visceral bleeding (28%). Intracranial bleeding occurred in 6% of cases. Thirty-six percent of patients were on prophylactic therapy. Hemophilic arthropathy was the most important orthopedic complication in our patients (38%). Inhibitory antibodies occurred in 16% of PWH. Transfusion-transmitted infections with HIV and hepatitis C were in 2 and 31% of cases, respectively. The prevalence of hemophilia is still underestimated in our center. The severe form of hemophilia is the most frequent. Hemophilic arthropathy was the most important complication in our patients. This showed that hemophilia is still a disabling disease in our country.

Chronic giant cranial diploe hematoma in hemophiliac.

Cranial diploe hematoma is a hematoma that occurs between the inner and outer layer of the skull and is often in infants and young children. Hemophilia A is an inherited X-linked bleeding disorder caused by a deficiency of coagulation factor VIII (FVIII) . Epidemiological survey results show that the prevalence of hemophilia in 24 provinces and cities in China is 2.73/100,000, while only about 5% of patients are registered . Hemophilia is mainly characterized by bleeding, which can occur anywhere in the pa-tient's body and manifest as intracranial, gastrointestinal, or pharyngeal bleeding, which can be life-threatening in severe cases. This article shares a case of a patient with he-mophilia A complicated by a chronic giant diploe hematoma.

Seizures in a Term Newborn.

Seizures in a Term Newborn.

Hemophilia: The Past, the Present, and the Future.

Hemophilia: The Past, the Present, and the Future.

Characteristics of Haemophilia Patients: A One-Year Experience from A Tertiary Care Hospital in Bangladesh

Haemophilia is one of the most common bleeding disorders globally. Though the prevalence of haemophilia in Bangladesh according to the ‘World Haemophilia Registry’ is ten per million people, the original prevalence would be much higher. There is lack of evidence about the socio-demographic and clinical characteristics of these patients. The objective of the present study was characterization of the haemophilia patients according their socio-demographic condition as well as their disease and treatment related profiles. All the patients who visited the haematology department of Rajshahi Medical College Hospital (RMCH) from May 1, 2019 to April 30, 2020 diagnosed as haemophilia were included in the study. Socio-demographic and clinical data from 74 haemophilia patients were analysed. Among them 72 patients were male. More than two-thirds of the patients were from rural area and belonged to lower socioeconomic status. Total 72 out of 74 patients were suffering from haemophilia A. Severity of the disease was mild 34%, moderate 63% and severe 3%. More than 86% patients reported target joint of bleeding and 78% of them had bleeding in last six months. A total of 73% patients received treatment within past six months of the current visit and all of them received factor concentrates. More than 94% patients received treatment on demand. Under the shed of findings of the present study it is recommended that a funded haemophilia management program and optimum use of prophylactic therapy is necessary to improve the quality of life as well as increase life expectancy of the patients.

A Rare Case of Severe Hemophilia B Combined with Hematomesenchymal Dysplasia

BACKGROUND: The prevalence of hemophilia B in the global population is approximately 1:60,000. Undifferentiated systemic mesenchymal dysplasia (uSMD) is diagnosed rather frequently, about 1:5, according to Russian authors; no data on uSMD prevalence in other countries are available. The combination of hemophilia and uSMD has grouped under the term hematomesenchymal dysplasia (HMD). This combination significantly worsens the clinical picture, prognosis, and quality of life of the patient. AIM: In this article, we present a rare clinical case of a child with a combination of hemophilia B and HMD. CASE REPORT: A clinical case of a male patient, 5 years old with hemophilia B, severe form combined with HMD, complicated by hemothorax, abscessed pulmonary lobe hematoma has presented. The presence of HMD and the above complications had an unfavorable effect on the severity of the clinical picture and the abnormal response to treatment. The main diagnostic procedures were the assessment of the phenotypic signs of HMD in combination with laboratory and instrumental examination methods such as ultrasound, computed tomography (CT) scan, and echocardiography. Vital treatment is factor IX replacement therapy and supportive one. CONCLUSION: This clinical example highlights the importance of clinical alertness to hereditary coagulopathies, which often lead to life threatening, sometimes disabling complications that significantly reduce the quality of life of children with hemophilia. Consequently, full-scale epidemiological studies of the prevalence of HMD in the population are an urgent task for the near future.

The Weight Assessment and its Relation to Hemophilia Joint Health Score in Hemophilic Patients

Background: Haemophilia is a group of hereditary disorders that impair the body's ability to control blood clotting or coagulation. Joint bleeding (hemarthrosis) results in synovial hypertrophy and damage of the cartilage, leading to joint destruction with recurrent bleeding episodes (hemophilic arthropathy). Objective: To assess weight of hemophilic children and correlate the weight to Hemophilia Joint Health Score. Methods: The sample size included was 66 patients with hemophilia in Zagazig city between October 2019 and March 2020. They were categorized according to presence of arthropathy or not [Two groups; one group with hemophilic arthropathy and the other group without hemophilic arthropathy]. All patients were subjected to full history taking including personal history, thorough clinical examination [assessment of vital signs and color, assessment of any bone deformity, pain or muscle weakness and Hemophilia Joint Health Score ] and weight assessment, Results: Our case control study showing male predominance in both groups. In hemophilic arthropathy, 100% (10.68 ± 4.28) and without hemophilic arthropathy 97% (7.17 ± 4.12) and more prevalence of hemophilia A [factor V111 deficiency] in both groups (with H.A.97% & without H.A.78.8%). In addition, our study reported that most common site of bleeding in hemophilic patients rather than big joints affection; gum [18.2%] then gum & teeth [12.1%]. Increased weight was found more in hemophilia with arthropathy than in hemophilia without arthropathy. Conclusion: Our case control study showing male predominance and more prevalence of hemophilia A than B in both hemophilic groups (with or without hemoarthropathy). Weight was significantly increased in hemophilia with arthropathy group than in hemophilia without arthropathy group.

Rare but not Abdicated: Status of Haemophilia in foothills of Himalaya, Uttarakhand: A cross-sectional study.

Background:Haemophilia is one of the bleeding disorders, which is inherited, in an xlinked recessive pattern. The diagnosis is by estimation of factor levels of 8 and 9. Timebound treatment for people living with Haemophilia (PWH) is factor replacement during bleeding manifestation. The prevalence of Haemophilia was mostly underestimated, and it is more so in hilly terrains like the state of Uttarakhand.Materials and Method:This is a crosssectional study by compiling the data of PWH visiting the tertiary care centre for Haemophilia in Uttarakhand. We collected data from the patients with bleeding disorder reporting to the Haemophilia centre from July 2017 to December 2018. In this manuscript, we try to describe the pattern of Haemophilia and the degree of severity and incidence of inhibitors among the sample population of PWH who represent the population of Uttarakhand. The magnitude of problems faced by PWH from this hilly terrain to assess basic treatment in case of emergency is also being depicted.Result:We reported Haemophilia A contributing about 80% of the PWH in our centre. Average distance a PWH has to travel to obtain treatment was about 131.5 km (SD ± 83.7 km). Incidence of inhibitors was about 5%.Conclusion:We infer from our study that Hemophilia A is more common than Hemophilia B. Through this manuscript we hope to spread awareness of the Haemophilia care that is ongoing, the role of prophylaxis therapy and the future role of primary care physicians that may change the care of PWH in future.

Clinicopathological features of hemophilia in a tertiary care centre of India.

Context:Inherited bleeding disorders are common in India and hemophila and von Willebrand diseases are the most common among them. These patients can present in any department including paediatrics, medicine, orthopaedics and even gynaecology so knowledge about hemophilias and facilities for specialized tests for diagnosis are required. Few centres of north-eastern part of India perform these tests so hemophilias remain an underdiagnosed and underreported disease.Aims:The objective of this study was to estimate the prevalence of hemophilia in patients referred to this tertiary care centre and study the clinicopathological profile of these patients.Settings and Design:Prospective study.Methods and Material:Patients referred with suspicion of bleeding disorders in a time period of 4 years were evaluated. Complete clinical details, family history was retrieved and tests like complete blood counts, bleeding time, prothrombin time, activated partial thromboplastin time and factor assays were performed.Results:A total of 1126 patients with suspected bleeding disorder were tested and 237 were diagnosed of inherited bleeding disorders. Hemophilia A (HA) was diagnosed in 151 patients (63.7%), Hemophilia B (HB) in 31 (13%). Mean age was 10 years in HA and 11 years in HB patients. Clinical features of hemophilia varied according to Factor VIII levels. Coagulation type of bleeding such as hemarthrosis and hematoma were much more frequent than mucosal type bleeding.Conclusions:The present study is one of the very few studies from the north-eastern part of India estimating the prevalence and clinicopathological features of hemophilia, highlighting the need of specialized diagnostic facilities in this part of India.

Characterization of Portuguese Haemophilia patients based on the National Registry Data

Abstract Haemophilia is a chronic and rare congenital bleeding disorder requiring treatment for life. An updated registry of data on this disease is of paramount importance for documenting prevalence, planning care, and evaluating effectiveness of resources in any country. The study presented in this paper is aimed at characterizing Portuguese patients’ clinical condition and demography, as well as the replacement therapy used in their treatment, based on hemo@record data, a technological solution that supports the National haemophilia registry. The analysis of 110 patients records confirmed the high prevalence of haemophilia A (75.5%) compared with haemophilia B (11.8%) and a large incidence in the severe levels (or the existence of people with mild severity without diagnosis and, consequently, without proper treatment) promoting insight about the portrayal of haemophilia in Portugal. This study should be extended as the registry evolves fostering an ever more efficient management of resources and ultimately a better quality of care for people with haemophilia.

Clinical And Functional Changes In Hard Tissues Of Teeth In Patients With Hemophilia

Hereditary coagulopathies characterized by reduced blood clotting occupy a special place among diseases of the blood system. The most common of these are hemophilia and Willebrand's disease. Hemophilia-the disease of "royals" - is an old, but still relevant disease. Hereditary coagulopathies, characterized by reduced blood clotting, occupy a special place among diseases of the blood system. Based on who data and the likely frequency of research on these diseases, the prevalence of hemophilia ranges from 3 to 25 patients per 10,000 population. Few studies of the oral cavity in patients with hemophilia have shown a high level of dental diseases, poor hygiene of the oral cavity. This is due to the lack of proper oral care, and dispensary monitoring, fear of prolonged bleeding after dental manipulations. For this reason, dentists try to avoid treating dental diseases in this category of patients. At the same time, modern achievements of medical science in the field of Hematology and the development of effective replacement therapy allow to prevent almost all types of bleeding. However, this group of patients is still unable to receive timely and high-quality dental treatment and prevention, which largely determines the high prevalence of inflammatory diseases of the maxillofacial region. All of the above is evidence of the presence of many predisposing factors of damage to the dental system in patients with hemophilia, as well as the need for preventive, therapeutic, including orthopedic dental measures for this category of patients.