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Figure S1. Pedigree branches showing transmission of putative hemophilia from Queen Victoria of England to her descendants in European royal families.
Source publication
The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. Although the disease is widely recognized to be a form of the blood clotting disorder hemophilia, its molecular basis has never been identified, and the royal disease is now likely extinct. We id...
Citations
... Two individuals he had come across had de ciencies in factor VIII besides factor IX, two distinct proteins. Such ndings made it possible to diagnose the condition properly and laid the groundwork for currently available therapies for this hereditary hemorrhagic illness [6]. ...
People with hemophilia B, a genetic disorder, bleed continuously for extended periods if left untreated. Hemophiliacs
bleed at the regular rate inde�nitely until they receive treatment; they do not bleed more quickly than healthy people,
their blood is unable to clot when they bleed in the absence of suitable treatment. The main concern while dealing with
hemophilia is internal bleeding. Bleeding frequently occurs in elbows, knees, and ankles. In severe situations, this can
start on its own, but it can also be induced by damage. Regretfully, hemophilia B has not garnered as much attention
from researchers as other serious illnesses. The most distressing aspect of this illness is that, on occasion, even medical
professionals are ignorant of its diagnosis and treatment. Depending on the hemorrhaging conditions, the only viable
therapy options are the infusion of factors and certain adjuvant medicines. For the bene�t of the millions of hemophilic
patients, this page provides an overview of hemophilia B to draw attention from medical and pharmacy professionals.
... In Europe, cases of hemophilia have been described among several branches of royal families in England, Germany, Russia, and Spain. However, it was unclear whether these cases represented hemophilia A or B [5] until the 21st century [6,7]. One such case involved Alexis Romanov, the son of Tsar Nicholas II, who was stricken by the disease. ...
... One such case involved Alexis Romanov, the son of Tsar Nicholas II, who was stricken by the disease. His condition revealed a pathogenic variant in the splice acceptor site of exon 4 in the F9 gene, responsible for hemophilia B. This variant had a significant impact on European royal families throughout the 19th and 20th centuries [6]. ...
Hemophilia A is a hereditary bleeding disorder characterized by a deficiency in clotting factor VIII, leading to significant morbidity and a reduced quality of life. This review provides an updated overview of the current understanding of hemophilia A, highlighting its genetic underpinnings and advancements in treatment strategies. A literature review was conducted using various available databases. Relevant studies on hemophilia A, covering genetics and treatment options, were selected and summarized. Recent developments in gene therapy are discussed, showcasing their potential to offer long-term solutions and reduce the burden of treatment. Additionally, the review addresses global disparities in care and policy implications, emphasizing the need for comprehensive healthcare frameworks to improve outcomes for individuals living with hemophilia A worldwide. By synthesizing recent findings and insights, this review aims to inform clinicians and policymakers about the evolving landscape of hemophilia A management and the necessity for equitable access to care.
... Hemophilia is commonly known as 'the royal disease' because it was widespread among European royal families. Queen Victoria carried hemophilia B and passed it on to her descendants 16,17 . Queen Victoria transmitted the hemophilia gene to her son, Leopold, and through her daughters, Beatrice and Alice, the disorder spread to the royal families of Germany, Spain, and Russia 18 . ...
Blood is a form of connective tissue made up of two main components: Red blood cells, white blood cells, and platelets make up the fluid which is known as plasma and a cellular component. Disorders related to blood and bone marrow fall under hematopoietic system disorders. Bleeding disorders are conditions where blood does not clot correctly. Normally, platelets clump together to create a plug at the location of a blood vessel injury. Clotting factors, which are proteins found in the blood, collaborate to form a fibrin clot. This clot holds the platelets in place, assists with healing, and helps reduce blood loss.Hemorrhagic disorders can be either inherited or acquired and may result from issues like blood vessel abnormalities, deficiencies in clotting factors, or problems with platelets.
... Nestes casos, a atenção deve convergir aos materiais que possuem potencial para lesionar os tecidos moles, a exemplo das matrizes, grampos, lençol de borracha e fio retrator (Rodriguez-Merchan, 2010). Somado a isso, a endodontia, também não oferece grandes riscos ao paciente diagnosticado com esta condição, quando realizado de forma correta, comumente não há necessidade de repor os fatores de coagulação (Rogaev et al., 2009). Em concordância, em reabilitações protéticas ou tratamentos ortodônticos não existem contraindicações ou restrições aos pacientes com DVW, devendo-se apenas atentar-se também aos materiais com potencial de promover trauma, a exemplo, neste caso, dos braquetes (Srivastava et al, 2013;Shastry et al., 2014). ...
A síndrome de Von Willebrand ocorre a partir de uma falha genética, impedindo ou minimizando a coagulação sanguínea. Por isso, os portadores dessa condição apresentam mais suscetibilidade a episódios de hemorragia. A partir disso, o número de pacientes com alguma patologia sanguínea é significativo, ratificando a importância da natureza deste trabalho. O objetivo geral deste estudo consiste em apontar como a síndrome de Von Willebrand impacta na realização de procedimentos cirúrgicos orais, além de explicitar sua repercussão na cascata de coagulação sanguínea. Esta revisão de literatura foi realizada através das bases de dados Biblioteca Virtual em Saúde (BVS), Pubmed/Medline, e Google Acadêmico, dentro do recorte temporal dos últimos 20 anos (2004-2024), onde foram selecionados estudos nos idiomas português e inglês. Logo, cirurgias orais oferecem um risco a esse grupo de pacientes, contudo, existem medidas a serem abordadas que garantirão a realização de um procedimento cirúrgico seguro.
... This leads to prolonged bleeding and bruising, as well as the formation of soft tissue hematomas and joint bleeding, which can result in chronic pain and disability. Hemophilia is caused by mutations in the F8 or F9 genes that encode these clotting factors [1][2][3][4]. ...
Hemophilia patients have a deficiency in or dysfunction of clotting factors, which can lead to a bleeding tendency. However, paradoxically, some hemophilia patients may also be at an increased risk of developing thrombotic events such as deep vein thrombosis or pulmonary embolism. The pathophysiology of thrombosis in hemophilia patients is not fully understood, but it is thought to involve a complex interplay of various factors, including the severity of the hemophilia, the presence of other risk factors such as obesity, smoking, or the use of hormonal therapies, and the presence of certain genetic mutations that increase the risk of thrombosis. In addition, it has been suggested that the use of clotting factor replacement therapy, which is a standard treatment for hemophilia, may also contribute to the development of thrombosis in some cases.
... Posredi je kovanica nastala od grčkih reči hemo, sa značenjem "krv", i philia, sa značenjem "ljubav". Genetski opis hemofilije prvi je dao dr Nase, koji je istakao da hemofiliju na svoje sinove prenose majke koje nisu bolovale od hemofilije [1][2][3][4][5] . ...
... The term "haemophilia" was first used by Johann Lucas Schönlein in his dissertation at the University of Zurich and is a coinage of the Greek words "hemo" meaning blood and "philia" meaning love. The genetic description of haemophilia was first given by Dr Nasse, who pointed out that haemophilia is completely transmitted by mothers who did not suffer from haemophilia to their sons [1][2][3][4][5] . ...
Introduction: Haemophilia is one of the most common haemorrhagic diseases from the group of coagulopathies and results from a deficiency of factors responsible for the first phase of coagulation. Aim: This informative paperwork aims to highlight the principles of oral surgical treatment of patients with haemophilia. Material and methods: The available literature was analysed to indicate the basic characteristics of haemophilia (clinical manifestation, possibilities of treatment and prophylaxis of the disease) with special reference to specificity and principles of dental oral surgical treatment of patients with haemophilia. Conclusion: The treatment of patients with haemophilia is considered one of the riskiest in everyday dental practice. Despite this, dental interventions can be successfully and safely performed. However, the dentist must be acquainted with the nature of the disease, its symptoms and the severity of the clinical picture. Furthermore, the dentist needs to know what kind of therapy the patient receives for the treatment of haemophilia, whether the patient has been diagnosed with inhibitors to the coagulation factor, and whether the patient has concomitant diseases with special reference to possible infectious diseases. Along with that, the key to a successful and safe intervention lies in a well-planned preoperative, perioperative and postoperative treatment of patients with haemophilia.
... HB has an estimated prevalence of 0.5 cases per 10,000 males [3][4][5]. Historically, one of the most famous HB carriers was Queen Victoria of the United Kingdom, who transmitted the mutated gene to many European courts across Russia, Germany and Spain: for such reason this rare inherited bleeding disorder is called 'royal disease' [6,7]. ...
Introduction
Therapy for hemophilia B is aimed at replacing the congenital deficiency of coagulation factor IX (FIX). For replacement therapy, several FIX concentrates derived from donated human plasma or engineered by recombinant DNA technology are currently commercially available. The use of these products is well established and permit patients a relatively normal life. To further improve treatment efficacy, recombinant FIX products with a prolonged half-life have been developed, allowing relaxed prophylactic dosing and reducing treatment burden.
Areas covered
In this review, we explore the current FIX replacement options for hemophilia B patients by analyzing the outcomes of their main clinical trials. We cover advances in the FIX molecules with extended half-life (EHL). Published literature on products for replacement of hemophilia B was retrieved using PubMed with no temporal limits.
Expert Opinion
The recent introduction of recombinant EHL FIX products has represented a major advance in the therapeutic management of hemophilia B patients, permitting both a reduction of treatment burden and improving patients’ compliance to prophylaxis and, ultimately, quality of life.
... Hemophilia or "the royal disease" has featured prominently in European royalty as Queen Victoria suffered from hemophilia B. Queen Victoria who ruled during nineteenth century passed the mutation for hemophilia B to three of her nine children, including the royal families of Germany, Spain, and Russia. [1] The term "hemophilia" originated from the term "hemorrhaphilia" which was used by Friedrich Hopff in 1828. [2] Hemophilia is an uncommon bleeding disorder in which the blood does not clot normally due to the lack of sufficient clotting factors, i.e., Factor VIII and Factor IX. ...
Background: Hemophilia is a hemoglobinopathy with significant impact on mental health of the patients as well as their families. Aims and Objectives: The aims and objectives are to assess the prevalence of anxiety disorders in chronically transfused hemophilia patients and their parents. Materials and Methods: 100 dyads of hemophilia patients of age group 8–15 years who are on regular transfusion of clotting factors and their parents were compared with 100 age and sex-matched controls who are pediatric patients from the outpatient department or ward but not suffering from hemophilia or any other chronic disorder. Pre-validated Hamilton Anxiety Score was used to evaluate anxiety level among the participants. Results: Participants suffering from hemophilia had anxiety prevalence of 32% while among the controls, anxiety prevalence of 16% was observed. Among parents of adolescents suffering from hemophilia, 45% showed anxiety as compared to 24% prevalence in the parents of control group. It was observed that anxiety was significantly more in elderly patients and in those patients who had lesser gap in transfusion of clotting factors. Conclusion: Hemophilia patients as well as their parents are at risk of developing anxiety disorders more than the normal counterparts. Therefore, identification followed by treatment at earlier stages warrants better prognosis of the patient.
... Hemophilia A results from factor VIII deficiency while hemophilia B results from factor IX deficiency. There is a less common form of hemophilia that occurs due to deficiency of clotting factor XI, it is known as hemophilia C. Hemophilia is characterized by prolonged and excessive bleeding after minor trauma or even spontaneously [2,3]. ...
Background
Hemophilia is an inherited condition that is caused by the deficiency of clotting factors in the blood. The most common presentations of hemophilia are hemarthrosis and muscle hemorrhage. The severity of the bleeding episodes can vary from mild to severe resulting in pain and swelling of the joints and the muscles. Repeated musculoskeletal bleeding can result in hemophilic arthropathies with subsequent joint degeneration and deformity. Our study aims to clinically assess the quality of life in hemophilic patients in terms of disease severity and morbidity in our community using the Functional Independence Score for Hemophilia (FISH).
Results
Our cross-sectional study which involved 64 hemophilia patients revealed that the most affected joints were the weight-bearing large joints (knees, elbows, ankles) and this was associated with a lower FISH score. While the total FISH score showed a significant positive correlation with the factor activity level, the average FISH score was 21.11 ± 4.5, and the score was slightly lower in severe hemophilia compared to mild-moderate disease.
Conclusion
We concluded that there is a significant decline in the functional ability of hemophilia patients having disease affecting the knee and elbow joints. Moreover, squatting was significantly reduced in patients with severe hemophilia. The quality of patients’ life can be improved by early and regular physiotherapy and regular administration of the prophylactic factor.
... In the past hemophiliac male used to die in young age due to its fatal bleeding nature, transfusion medicine is closely linked to this disease, as in the early nineties only treatment was blood transfusion [5]. With diagnostic advances and development of safe and effective treatment, affected individuals can now look forward to a normal life expectancy if they can receive comprehensive care. ...
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<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.
