Management of Haemophilia in Sweden

1976 ◽  
Vol 35 (03) ◽  
pp. 510-521 ◽  
Author(s):  
Inga Marie Nilsson
Keyword(s):  
Factor Viii ◽  
Total Population ◽  
Age Groups ◽  
Factor Ix ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Haemophilia B ◽  
Human Fraction ◽  
Mild Haemophilia

SummaryThe incidence of living haemophiliacs in Sweden (total population 8.1 millions) is about 1:15,000 males and about 1:30,000 of the entire population. The number of haemophiliacs born in Sweden in 5-year periods between 1931-1975 (June) has remained almost unchanged. The total number of haemophilia families in Sweden is 284 (77% haemophilia A, 23% haemophilia B) with altogether 557 (436 with A and 121 with B) living haemophiliacs. Of the haemophilia A patients 40 % have severe, 18 % moderate, and 42 % mild, haemophilia. The distribution of the haemophilia B patients is about the same. Inhibitors have been demonstrated in 8% of the patients with severe haemophilia A and in 10% of those with severe haemophilia B.There are 2 main Haemophilia Centres (Stockholm, Malmo) to which haemophiliacs from the whole of Sweden are admitted for diagnosis, follow-up and treatment for severe bleedings, joint defects and surgery. Minor bleedings are treated at local hospitals in cooperation with the Haemophilia Centres. The concentrates available for treatment in haemophilia A are human fraction 1-0 (AHF-Kabi), cryoprecipitate, Antihaemophilic Factor (Hyland 4) and Kryobulin (Immuno, Wien). AHF-Kabi is the most commonly used preparation. The concentrates available for treatment in haemophilia B are Preconativ (Kabi) and Prothromplex (Immuno). Sufficient amounts of concentrates are available. In Sweden 3.2 million units of factor VIII and 1.0 million units of factor IX are given per year. Treatment is free of charge.Only 5 patients receive domiciliary treatment, but since 1958 we in Sweden have practised prophylactic treatment of boys (4–18 years old) with severe haemophilia A. At about 5-10 days interval they receive AHF in amounts sufficient to raise the AHF level to 40–50%. This regimen has reduced severe haemophilia to moderate. The joint score is identical with that found in moderate haemophilia in the same age groups. For treatment of patients with haemophilia A and haemophilia B complicated by inhibitors we have used a large dose of antigen (factor VIII or factor IX) combined with cyclophosphamide. In most cases this treatment produced satisfactory haemostasis for 5 to 30 days and prevented the secondary antibody rise.

Home treatment for haemophilia

1978 ◽  
Vol 16 (13) ◽  
pp. 49-50
Keyword(s):  
Factor Viii ◽  
Coagulation Factors ◽  
Home Treatment ◽  
Factor Ix ◽  
Coagulation Cascade ◽  
Haemophilia A ◽  
Haemophilia B ◽  
Prolonged Bleeding ◽  
Factor Deficiency ◽  
Spontaneous Haemorrhage

Haemophilia A is caused by faulty synthesis of Factor VIII of the coagulation cascade. Haemophilia B (Christmas disease) is caused by a deficiency of Factor IX. The two conditions are clinically similar; all patients suffer from prolonged bleeding after trauma and in the more severely affected there is also spontaneous haemorrhage, particularly into joints and muscles. Correction of factor deficiency by plasma concentrates restores haemostasis but the intermittent nature of the haemorrhage, the scarcity of the transfused coagulation factors and their short plasma half-lives in most cases limit treatment to episodes of bleeding.

scholarly journals Not All Patients Benefit from Switching to Ehl: Results from the Wapps Database

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 21-22
Author(s):  
Olav Versloot ◽  
Emma Iserman ◽  
Pierre Chelle ◽  
Federico Germini ◽  
Tushara Mathew ◽  
...  
Keyword(s):  
Population Pharmacokinetics ◽  
Half Life ◽  
Research Funding ◽  
Large Scale ◽  
Age Groups ◽  
Relative Increase ◽  
Pharmacokinetic Data ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Haemophilia B

Introduction: Extended Half-Life (EHL) concentrates were recently introduced to increase trough levels, decrease infusion frequency and potentially limiting the burden of treatment in patients with haemophilia (PWH) and their caregivers. Group-based studies have reported increased terminal half-life (THL) after switching from standard half-life (SHL) to EHL concentrates. However, available reports have included less than 30 patients and large-scale studies on switching from SHL to EHL concentrates are lacking. Aim: to assess individual changes in THL after switching from SHL to EHL concentrates in patients with severe haemophilia. Methods: Data were collected from the WAPPS (Web-Accessible Population Pharmacokinetics Service; www.wapps-hemo.org) database, which aims to assemble a database of pharmacokinetic data in PWH, develop and validate population pharmacokinetics models, and integrate these models within a Web-based calculator for individualized pharmacokinetic estimation. Informed consent was waived by the ethical committee. Data were selected from patients with both SHL and EHL infusions available. In case of multiple data, the last SHL and first EHL infusion were selected. THL was compared according to haemophilia type and age groups (children/adults). Comparisons were made based on haemophilia type and age by means of non-parametric paired testing. Results: Data were collected from 649 patients (1298 infusions) with severe haemophilia (89% haemophilia A; median age: 21.7 (11.5-37.7), weight: 66.0 kg (43.6-80.0) BMI: 22.5 (18.9-25.3); positive inhibitor history: 11.7%). All patients had received both SHL and EHL infusions. THL increased by a median factor 1.4 (1.2-1.7) in FVIII, leading to an absolute median increase of 4.1 hours (IQR: 2.0-6.7). However, THL was extended by less than 20% in 157 (27,2%) patients with haemophilia A after switching to EHL concentrates, leading to less than 48 minutes extension of THL. THL showed a decrease in 57 (9,9%) patients with haemophilia A after switching. For patients switching to EHL FIX, THL increased by a median factor 3.1 (2.4-3.6), leading to a median extension of 70.3 (52.5-90.8) hours in THL of FIX. All patients with haemophilia B showed an extension of THL after switching, with a minimum increase of 25%. Both the absolute and the relative increase in THL were similar for children and adults for both FVIII and FIX. Discussion: This was the first study to report large scale data on PWH switching from SHL to EHL concentrates. The results show that although an increased THL was observed at a group level, this was not the case for all individual patients. THL was extended by less than 20% after switching in 27% of patients with haemophilia A, with an actual decrease in THL in 9.9%. THL was extended by a minimum of 25% in patients with haemophilia B. This seems to support the use of individualized PK assessment in patients with haemophilia to guide clinical decisions on switching from SHL to EHL concentrates. Disclosures Versloot: Bayer: Research Funding. Germini:Bayer: Research Funding; NovoNordisk: Research Funding; Roche: Research Funding; Takeda: Research Funding. Iorio:Freeline: Research Funding; Pfizer: Research Funding; NovoNordisk: Research Funding; CSL: Research Funding; BioMarin: Research Funding; Octapharma: Research Funding; Takeda: Research Funding; Uniqure: Research Funding; Grifols: Research Funding; Roche: Research Funding; Bayer: Research Funding; Sanofi: Research Funding; Spark: Research Funding. Fischer:Bayer, Biogen, Pfizer, Baxter/Shire, and Novo Nordisk: Research Funding; Bayer, Baxter/Shire, SOBI/Biogen, CSL Behring, Octapharma, Pfizer, NovoNordisk: Research Funding; Bayer, Baxter, Biogen, CSL Behring, Freeline, Novo Nordisk, Pfizer, Roche, and Sobi: Consultancy.

Epidemiology and Treatment of Patients with Haemophilia in Austria—Update from the Austrian Haemophilia Registry

2018 ◽  
Vol 39 (03) ◽  
pp. 284-293 ◽  
Author(s):  
Judit Rejtő ◽  
Sylvia Reitter-Pfoertner ◽  
Sylvia Kepa ◽  
Clemens Feistritzer ◽  
Michael Grundbichler ◽  
...  
Keyword(s):  
Prophylactic Treatment ◽  
Hiv Infections ◽  
Epidemiological Data ◽  
Treatment Modalities ◽  
Hiv Positive ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Haemophilia B ◽  
Immunodeficiency Virus ◽  
Mild Haemophilia

AbstractThe Austrian Haemophilia Registry collects epidemiological data on patients with haemophilia, on treatment modalities and potential side effects. The Registry covers more than 85% of the assumed total number of haemophilia patients in Austria. This report summarizes data on 753 patients: 84.3% (635) have haemophilia A and 15.7% (118) have haemophilia B. Patients' median age is 34 years (range: 1–93 years). Of the total cohort, 39.0% (294) patients have severe haemophilia, 11.3% (85) moderate haemophilia, and 49.4% (372) mild haemophilia. Of the patients with severe haemophilia, 38.4% (113) have been infected with hepatitis C virus (HCV) and 12.6% (37) are human immunodeficiency virus (HIV) positive. Overall, 10.6% (67) of patients with haemophilia A and 1.7% (2) of those with haemophilia B have had an inhibitor in their history. Among patients with severe haemophilia, 68.4% (201) receive prophylaxis and 28.6% (84) receive on-demand therapy. There are 65.0% (191) patients with severe haemophilia who are treated with recombinant products. In conclusion, most patients with severe haemophilia receive prophylactic treatment. HCV and HIV infections are still important issues in the Austrian haemophilia population.

Failure of Immunosuppression in a Severe Haemophilia B Patient with Specific Antibody

1976 ◽  
Vol 36 (01) ◽  
pp. 086-089 ◽  
Author(s):  
Jean-Pierre Allain ◽  
Dominique Frommel
Keyword(s):  
Factor Viii ◽  
Immunosuppressive Therapy ◽  
Specific Antibody ◽  
Factor Ix ◽  
Secondary Response ◽  
Severe Haemophilia ◽  
Anamnestic Response ◽  
Haemophilia B

SummaryPrevention of a secondary response to factor IX by cyclophosphamide was attempted in an 11 year old patient with severe Christmas disease. An antibody to factor IX had been present for 4 years before immunosuppressive therapy was tried. Despite profound lymphopenia, synthesis of factor IX antibody was not depressed. The difficulties of modifying the anamnestic response to factor IX by chemical immunosuppression may be as real as has been reported for factor VIII in classical haemophilia.

Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania

2016 ◽  
Vol 36 (S 02) ◽  
pp. S29-S33 ◽  
Author(s):  
B. Pezeshkpoor ◽  
A. Biswas ◽  
G. Goldmann ◽  
S. Horneff ◽  
M. Gimbutyte ◽  
...  
Keyword(s):  
Point Mutation ◽  
Rare Event ◽  
Coagulation Factor ◽  
Factor Ix ◽  
Gene Analysis ◽  
Bleeding Complications ◽  
Haemophilia A ◽  
Exon 2 ◽  
Haemophilia B ◽  
Mild Haemophilia

SummaryHaemophilia A (FVIII deficiency) and haemophilia B (FIX deficiency) are X-linked inherited bleeding disorders. It is a very rare event to identify both haemophilias in the same patient. So far, only two families with such combination are reported in the literature worldwide supported by genetic background. Patients and methods: Evaluation of clinical data, determination of FVIII and FIX levels and genetic analysis of F8 and F9 genes by direct sequencing. Results: We report on a patient having severe haemophilia B (FIX:C <1 IU dl-1) and mild haemophilia A (FVIII:C 18 IU dl-1 ). FIX deficiency was known since childhood, whereas mild haemophilia A was confirmed at the age of 42 due to unexpected bleeding complications after dental extraction despite adequate substitution with plasma derived FIX concentrate. F9 gene analysis showed a point mutation in exon 2 (c.223C>T, p.R75X), whereas F8 gene analysis revealed a point mutation in exon 4 (c.545A>C, p.D182A). The mother of the patient was heterozygous for F8 mutation, but not for F9 mutation suggesting a de novo F9 mutation. Accidentally, further family from Germany with mild Haemophilia A was identified to have the same F8 mutation. F8 Haplo-type analysis revealed that the p.D182A mutation most likely represents a founder mutation with common ancestors of the German and the Lithuanian family. Conclusions: Our results confirm the rare event of Haemophilia A and haemophilia B in the same patient originating from two distinct genetic defects in F8 and F9 genes.

scholarly journals Dental considerations in a patient with haemophilia

2016 ◽  
Vol 3 (1) ◽  
pp. 51-54 ◽  
Author(s):  
Chandra Khyati ◽  
Mavinakote Gowda Triveni ◽  
Rini Gopal ◽  
Ab. Tarunkumar ◽  
Suresh Hanagavadi ◽  
...  
Keyword(s):  
Factor Viii ◽  
Dental Care ◽  
Coagulation Factor ◽  
Bleeding Risk ◽  
Factor Ix ◽  
Haemophilia A ◽  
Haemophilia B ◽  
Characteristic Features ◽  
Limited Health ◽  
Treatment Procedures

Abstract Haemophilia is a rare blood clotting disorder, characteristic features of which include extemporaneous and post-traumatic subcutaneous bleeding and mucosal haemorrhages. Genetic deficiency of coagulation factor VIII results in haemophilia A, while deficiency of factor IX leads to haemophilia B. The most common treatment for haemophilia A is administration of recombinant or plasma-derived factor VIII concentrate, to raise the levels of the deficient factor VIII. Tranexamic acid is also used as an anti-fibrinolytic agent that inhibits plasminogen activators present in oral secretion and stabilises the clot. Administration of factor IX is required in haemophilia B. Treatment leads to increased longevity and quality of life for patients. Dental conditions and treatments are more complicated and uncertain in patients with haemophilia due to bleeding risk, thus restorative dental care is of paramount importance for those with haemophilia. The fear of bleeding during treatment procedures is the primary cause of lack of proper dental care for people with haemophilia in countries with limited health care resources. This case report highlights the significance of clinical examination and investigation, and the importance of proper interaction between a haematologist and the periodontist for correct multidisciplinary and uneventful management of periodontal health of a patient with haemophilia.

Immunological Method for the Detection of the Carrier of Haemophilia B.

1975 ◽  
Author(s):  
M. Matsuoka ◽  
M. Ito ◽  
N. Sakuragawa ◽  
K. Takahashi
Keyword(s):  
North Carolina ◽  
Factor Ix ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Normal Human Plasma ◽  
Sephadex Column ◽  
Haemophilia B ◽  
The North ◽  
Normal Human ◽  
Almost All

Both the immunoassay and bioassay were performed on factor IX activity of haemophilia B patient. Their values were compared with each other.The immunoassay by neutralization was performed as follows: antibody to factor IX was obtained by immunization of purified factor IX to rabbit which was isolated by the technique of DEAE-Sephadex column chromatography using eluate from BaS04 which absorbed factor IX of normal human plasma.In approximately 90% of the cases of definite carriers of haemophilia B, the activity of factor IX by bioassay was observed to be lower than that of factor VIII of haemophilia A carrier. The factor IX activity was observed to be at the same level as factor IX antigen by immunoassay in almost all of the cases, but in the cases of the mother of haemophilia B, and the North Carolina type of haemophilia B the factor IX antigen was much greater than that of activity by bioassay. The same results were obtained by the above mentioned methods using inhibitor substance arising from severe haemophilia B patient.It was suggested that the immunoassay method is useful in detecting the carrier of haemophilia B and North Carolina type of haemophilia B.

scholarly journals MUTATIONAL PROFILES OF F8 AND F9 IN A COHORT OF HAEMOPHILIA A AND HAEMOPHILIA B PATIENTS IN THE MULTI-ETHNIC MALAYSIAN POPULATION

2018 ◽  
Vol 10 (1) ◽  
pp. e2018056 ◽  
Author(s):  
Maimiza Zahari ◽  
Siti Aishah Sulaiman ◽  
Zulhabri Othman ◽  
Yasmin Ayob ◽  
Faraizah Abd Karim ◽  
...  
Keyword(s):  
Factor Viii ◽  
Splice Site ◽  
Genetic Alterations ◽  
Large Deletion ◽  
Factor Ix ◽  
Haemophilia A ◽  
Novel Mutations ◽  
Haemophilia B ◽  
Malaysian Population ◽  
Intron 22 Inversion

Background: Haemophilia A (HA) and Haemophilia B (HB) are X-linked blood disorders that are caused by various mutations in the factor VIII (F8) and factor IX (F9) genes respectively. Identification of mutations is essential as some of the mutations are associated with the development of inhibitors. This study is the first comprehensive study of the F8 mutational profile in Malaysia.Materials and methods: We analysed 100 unrelated HA and 15 unrelated HB patients for genetic alterations in the F8 and F9 genes by using the long-range PCR, DNA sequencing, and the multiplex-ligation-dependent probe amplification assays. The prediction software was used to confirm the effects of these mutations on factor VIII and IX proteins.Results: 44 (53%) of the severe HA patients were positive for F8 intron 22 inversion, and three (3.6%) were positive for intron 1 inversion. There were 22 novel mutations in F8, including missense (8), frameshift (9), splice site (3), large deletion (1) and nonsense (1) mutations. In HB patients, four novel mutations were identified including the splice site (1), small deletion (1), large deletion (1) and missense (1) mutation.Discussion: The mutational spectrum of F8 in Malaysian patients is heterogeneous, with a slightly higher frequency of intron 22 inversion in these severe HA patients when compared to other Asian populations. Identification of these mutational profiles in F8 and F9 genes among Malaysian patients will provide a useful reference for the early detection and diagnosis of HA and HB in the Malaysian population.

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