scholarly journals Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX

Haemophilia ◽  
2020 ◽  
Author(s):  
Céline Row ◽  
Pierre Chamouni ◽  
Claire Berger ◽  
Anne Lienhart ◽  
Sandrine Meunier ◽  
...  
Keyword(s):  
Factor Ix ◽  
Haemophilia B ◽  
Abnormal Bleeding ◽  
Mild Haemophilia

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.

Continuous infusion factor replacement in haemophilia B during and after cardiac surgery: the better choice?

2020 ◽  
Vol 13 (11) ◽  
pp. e235859
Author(s):  
Saira Farid ◽  
Sarah Sewaralthahab ◽  
Hedy Patricia Smith
Keyword(s):  
Cardiac Surgery ◽  
Steady State ◽  
Artery Bypass ◽  
Bypass Graft ◽  
Current Level ◽  
Factor Ix ◽  
Activity Level ◽  
Artery Bypass Graft ◽  
Haemophilia B ◽  
Mild Haemophilia

A 57-year-old man with mild haemophilia B was admitted for coronary artery bypass graft surgery. His factor IX (FIX) activity was 15% on admission. Our goal was to maintain his FIX activity at 80%–100% for post-op days (PODs) 0–3, and at 60%–80% for PODs 4–14. Preoperatively, the patient was given recombinant FIX (rFIX) bolus using the formula:Dosage needed=%(desired FIX level−current level of FIX)×weight (kg)×1.3.This increased his activity to 100%. One IU of rFIX increased FIX activity by 0.8%; the half-life of rFIX is 18–24 hours. The rFIX infusion was started intraoperatively and continued after surgery to maintain target FIX activity. He was discharged on POD 9 on rFIX bolus dosing of 5000 IU every 12 hours for an additional 5 days. Using continuous factor infusion, we managed to decrease the amount rFIX used by >60% while maintaining steady state FIX activity level.

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.

A Deletion Located in the 3′ Non Translated Part of the Factor IX Gene Responsible for Mild Haemophilia B

1993 ◽  
Vol 70 (02) ◽  
pp. 370-371 ◽  
Author(s):  
C de la Salle ◽  
J-L Charmantier ◽  
M-J Baas ◽  
A Schwartz ◽  
M-L Wiesel ◽  
...  
Keyword(s):  
Factor Ix ◽  
Haemophilia B ◽  
Mild Haemophilia

Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a — 6 G to A mutation in the factor IX promoter

1993 ◽  
Vol 85 (1) ◽  
pp. 188-190 ◽  
Author(s):  
K. M. Stowell ◽  
M. S. Figueiredo ◽  
G. G. Brownlee ◽  
P. Jones ◽  
P. H. B. Bolton-Maggs
Keyword(s):  
Factor Ix ◽  
Haemophilia B ◽  
Mild Haemophilia

Influence of source of phospholipids for APTT-based factor IX assays and potential consequences for the diagnosis of mild haemophilia B

Haemophilia ◽  
2009 ◽  
Vol 15 (1) ◽  
pp. 365-368 ◽  
Author(s):  
C. POUPLARD ◽  
M. TROSSAERT ◽  
A. LE QUERREC ◽  
B. DELAHOUSSE ◽  
B. GIRAUDEAU ◽  
...  
Keyword(s):  
Factor Ix ◽  
Haemophilia B ◽  
Mild Haemophilia

Performances of an Artificial Reagent for the One-stage Factor IX Assay

1975 ◽  
Vol 33 (03) ◽  
pp. 547-552 ◽  
Author(s):  
L Meunier ◽  
J. P Allain ◽  
D Frommel
Keyword(s):  
Human Plasma ◽  
Factor Ix ◽  
Severe Haemophilia ◽  
Normal Human Plasma ◽  
Haemophilia B ◽  
One Stage ◽  
Normal Human ◽  
The One

SummaryA mixture of adsorbed normal human plasma and chicken plasma was prepared as reagent for factor IX measurement using a one-stage method. The substrate was found to be specific for factor IX. Its performances tested on samples displaying factor IX activity ranging from <l%–2,500% compared favorably with those obtained when using the plasma of severe haemophilia B patients as substrate.

The Formation of Intermediate Product I in a Purified System The Role of Factor IX or of its Precursor and of a Hageman Factor-PTA Fraction

1961 ◽  
Vol 6 (02) ◽  
pp. 224-234 ◽  
Author(s):  
E. T Yin ◽  
F Duckert
Keyword(s):  
Intermediate Product ◽  
Factor Ix ◽  
Assay Method ◽  
Lag Phase ◽  
Factor X ◽  
Haemophilia B ◽  
Hageman Factor ◽  
One Stage ◽  
The One

Summary1. The role of two clot promoting fractions isolated from either plasma or serum is studied in a purified system for the generation of intermediate product I in which the serum is replaced by factor X and the investigated fractions.2. Optimal generation of intermediate product I is possible in the purified system utilizing fractions devoid of factor IX one-stage activity. Prothrombin and thrombin are not necessary in this system.3. The fraction containing factor IX or its precursor, no measurable activity by the one-stage assay method, controls the yield of intermediate product I. No similar fraction can be isolated from haemophilia B plasma or serum.4. The Hageman factor — PTA fraction shortens the lag phase of intermediate product I formation and has no influence on the yield. This fraction can also be prepared from haemophilia B plasma or serum.

Early elevation of factor IX level in japanese brothers with Haemophilia B Leyden who are carrying c. ‐35 g > a mutations in the promoter region of F9

Haemophilia ◽  
2021 ◽  
Author(s):  
Akihiro Tamura ◽  
Keiko Shinozawa ◽  
Suguru Uemura ◽  
Sayaka Nakamura ◽  
Takahiro Fujiwara ◽  
...  
Keyword(s):  
Promoter Region ◽  
Factor Ix ◽  
Haemophilia B ◽  
Early Elevation

scholarly journals Results of a phase I/II open‐label, safety and efficacy trial of coagulation factor IX (recombinant), albumin fusion protein in haemophilia B patients

Haemophilia ◽  
2015 ◽  
Vol 21 (6) ◽  
pp. 784-790 ◽  
Author(s):  
U. Martinowitz ◽  
T. Lissitchkov ◽  
A. Lubetsky ◽  
G. Jotov ◽  
T. Barazani‐Brutman ◽  
...  
Keyword(s):  
Fusion Protein ◽  
Phase I ◽  
Coagulation Factor ◽  
Factor Ix ◽  
Efficacy Trial ◽  
Open Label ◽  
Safety And Efficacy ◽  
Haemophilia B ◽  
Coagulation Factor Ix
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