Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation

1994 ◽  
Vol 235 (5) ◽  
pp. 443-450 ◽  
Author(s):  
Ó. JENSSON ◽  
S. STENBJERG BERNVIL ◽  
S. JÖNSÖDTTIR ◽  
J. INGERSLEV
Keyword(s):  
Haemophilia A ◽  
Clinical Genetic ◽  
Genetic Studies ◽  
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.

Diagnosis and management challenges in patients with mild haemophilia A and discrepant FVIII measurements

Haemophilia ◽  
2014 ◽  
Vol 20 (4) ◽  
pp. 550-558 ◽  
Author(s):  
M. Trossaert ◽  
A. Lienhart ◽  
C. Nougier ◽  
M. Fretigny ◽  
M. Sigaud ◽  
...  
Keyword(s):  
Haemophilia A ◽  
Diagnosis And Management ◽  
Mild Haemophilia

scholarly journals Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

2018 ◽  
Vol 90 (3) ◽  
pp. 342-352 ◽  
Author(s):  
Ivo Eijkenboom ◽  
Maurice Sopacua ◽  
Janneke G J Hoeijmakers ◽  
Bianca T A de Greef ◽  
Patrick Lindsey ◽  
...  
Keyword(s):  
Sodium Channels ◽  
Clinical Features ◽  
Genetic Screening ◽  
Clinical Genetic ◽  
Genetic Studies ◽  
Small Fibre Neuropathy ◽  
Reference Centre ◽  
Pathogenic Variants ◽  
Small Fibre ◽  
Genetic Science

BackgroundNeuropathic pain is common in peripheral neuropathy. Recent genetic studies have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain disorders. Our aims are to determine the frequency of SCN9A, SCN10A and SCN11A variants in patients with pure small fibre neuropathy (SFN), analyse their clinical features and provide a rationale for genetic screening.MethodsBetween September 2009 and January 2017, 1139 patients diagnosed with pure SFN at our reference centre were screened for SCN9A, SCN10A and SCN11A variants. Pathogenicity of variants was classified according to established guidelines of the Association for Clinical Genetic Science and frequencies were determined. Patients with SFN were grouped according to the VGSC variants detected, and clinical features were compared.ResultsAmong 1139 patients with SFN, 132 (11.6%) patients harboured 73 different (potentially) pathogenic VGSC variants, of which 50 were novel and 22 were found in ≥ 1 patient. The frequency of (potentially) pathogenic variants was 5.1% (n=58/1139) for SCN9A, 3.7% (n=42/1139) for SCN10A and 2.9% (n=33/1139) for SCN11A. Only erythromelalgia-like symptoms and warmth-induced pain were significantly more common in patients harbouring VGSC variants.Conclusion(Potentially) pathogenic VGSC variants are present in 11.6% of patients with pure SFN. Therefore, genetic screening of SCN9A, SCN10A and SCN11A should be considered in patients with pure SFN, independently of clinical features or underlying conditions.

Development of an inhibitor in a man with mild haemophilia A

Haemophilia ◽  
2017 ◽  
Vol 23 (5) ◽  
pp. e473-e474 ◽  
Author(s):  
M. S. Evans ◽  
M. E. Eyster
Keyword(s):  
Haemophilia A ◽  
Mild Haemophilia

Abstract WP270: Etiopathologies of Symptomatic and Asymptomatic Intracranial Large Arterial Disease: The Results of HR-MRI and Genetic Studies

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Hyung Jun Kim ◽  
Oh Young Bang ◽  
In-Young Baek ◽  
Mee So Lee ◽  
Ingyeong Kim ◽  
...  
Keyword(s):  
Arterial Disease ◽  
Imaging Features ◽  
Clinical Genetic ◽  
Double Lumen ◽  
Genetic Studies ◽  
High Resolution Mri ◽  
Tandem Stenosis ◽  
Distal Internal Carotid Artery ◽  
Characteristic Features ◽  
A Prospective Study

Introduction: Intracranial large arterial disease (ILAD) is common, especially in Asians. We compared clinical, genetic, and imaging features between symptomatic and asymptomatic ILAD. Methods: We conducted a prospective study of patients with acute symptomatic ILAD and subjects with asymptomatic ILAD diagnosed during medical checkups. Patients who had steno-occlusive lesions on the middle cerebral artery and/or distal internal carotid artery underwent high-resolution MRI (HR-MRI) and RNF213 (p.Arg4810Lys variant) gene studies. We excluded patients who had proximal embolic sources in ipsilateral carotid and heart. A presumptive etiology of ILAD was made based on HR-MRI and RNF213 gene studies. Patients were classified into intracranial atherosclerosis (ICAS) when relevant plaques existed on HR-MRI; moyamoya disease (MMD) when patients had RNF213 variant and HR-MRI showed no plaque but characteristic features of MMD (negative remodeling and basal collaterals); and intracranial arterial dissection (ICAD) when pathognomic features (intimal flap/double lumen or mural hematoma) exist on HR-MRI. Results: Among 224 patients analyzed, 124 were symptomatic and 100 were asymptomatic. ICAS-type was more common in symptomatic ILAD than in asymptomatic ILAD (61.4% vs. 45.0%, p=0.009). The RNF213 variant was observed in one third of ICAS-type ILAD (37.0% in asymptomatic and 38.6% in symptomatic). Similarly, the proportion of MMD-type was similar between asymptomatic (33, 21.3%) and symptomatic (32, 19.0%) ILAD. Multivariate testing showed that symptomatic ILAD was associated with the presence of intracranial plaque on HR-MRI, regardless of the presence of the RNF213 variant, site of ILAD, and number of tandem stenosis. Conclusions: While various etiopathologies can cause ILAD, ICAS is an important pathology of symptomatic ILAD and should be target for medical management.

Acute myocardial infarction during substitution with recombinant factor VIII concentrate in a patient with mild haemophilia A

2004 ◽  
Vol 92 (08) ◽  
pp. 425-426 ◽  
Author(s):  
Jean-Louis Kerkhoffs ◽  
Douwe Atsma ◽  
Pranobe Oemrawsingh ◽  
Jeroen Eikenboom ◽  
Felix Van der Meer
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Factor Viii ◽  
Recombinant Factor Viii ◽  
Haemophilia A ◽  
Mild Haemophilia

Current dosing practices for perioperative factor VIII concentrate treatment in mild haemophilia A patients result in FVIII levels above target

Haemophilia ◽  
2019 ◽  
Vol 25 (6) ◽  
pp. 960-968 ◽  
Author(s):  
Lisette M. Schütte ◽  
Nils Rooij ◽  
Hendrika C. A. M. Hazendonk ◽  
Ron A. A. Mathôt ◽  
Reinier M. Hest ◽  
...  
Keyword(s):  
Factor Viii ◽  
Haemophilia A ◽  
Concentrate Treatment ◽  
Mild Haemophilia

Clinical assessment of efficacy and safety of DDAVP

2010 ◽  
Vol 30 (S 01) ◽  
pp. S172-S175 ◽  
Author(s):  
W. Miesbach ◽  
S. Krekeler ◽  
O. Dück ◽  
B. Llugaliu ◽  
G. Asmelash ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Adverse Reactions ◽  
Fluid Intake ◽  
Von Willebrand Disease ◽  
Haemophilia A ◽  
Efficacy And Safety ◽  
Drug Reactions ◽  
Clinical Routine ◽  
Von Willebrand ◽  
Mild Haemophilia

SummaryThe efficacy of DDAVP (1-deamino-8-D-argi-nine-vasopressin, desmopressin) in mild haemophilia A and von Willebrand disease (VWD) has been established and the use of this well tolerated drug has become clinical routine. In case of increased fluid intake and based on very rarely occurring hyponatraemia, the indication of administration of DDAVP intravenously (i. v.) has to be performed diligently in elderly patients and in children below the age of five years. Aim, patients: Due to clinical practice we were interested in finding prospective parameter potentially correlating with adverse reactions of DDAVP and initiated this study. From 2007 to 2008, we included 49 patients suspicious to suffer from mild haemophilia A (n = 1) or VWD (n = 48) and investigated efficacy and safety of DDAVP after intravenous administration (mean: 0.29 ± 0.032 μg/kg body weight). They underwent clinical and laboratory investigation and were questioned with regard to potential adverse reactions immediately and three days after administration of DDAVP.: Results, conclusion: Most adverse reactions were mild and no serious adverse drug reactions were either observed or reported by the subjects. We identified significant changes of heart rate, blood pressure and leucocytes after conduct of the DDAVP test. The value of these findings has to be investigated in later prospective randomized studies. Further research on identification of prospective parameter is currently ongoing.

Tyr346→Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype – is this mild haemophilia A?

Haemophilia ◽  
2007 ◽  
Vol 0 (0) ◽  
pp. 071124115610001-??? ◽  
Author(s):  
H. Lyall ◽  
M. Hill ◽  
J. Westby ◽  
C. Grimley ◽  
G. Dolan
Keyword(s):  
Haemophilia A ◽  
Mild Haemophilia
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