scholarly journals Hemophilia a in a Girl with Deletion of a Part of the long ARM of one X Chromosome

1977 ◽  
Author(s):  
M. Samama ◽  
Ch. Perrotez ◽  
R. Houissa ◽  
A. Hafsia ◽  
J. Seger
Keyword(s):  
Factor Viii ◽  
X Chromosome ◽  
Bleeding Time ◽  
Hemophilia A ◽  
Haemophilia A ◽  
Severe Hemophilia ◽  
First Case ◽  
Sex Chromatin ◽  
Phenotypic Female ◽  
Blood Grouping

A severe hemorragic diathesis has been discovered in a 10 years old girl whose brother has severe hemophilia with classical haemarthrosis. The factor VIII biological activity is less than 1% in both of them with an almost normal factor VIII related antigen. The bleeding time was normal. There was no consanguinity and paternity was not disproved by extensive blood grouping tests. Cytogenetics studies showed a deletion of a part of the long arm of one X chromosome. The formula of the caryotype is 46, X, del X (q.212). The sex chromatin showed the presence of a phenotypic female. The X chromatin was smaller than normal. This is the first case to our knowledge of true female haemophilia A due to a deletion of one X chromosome.

scholarly journals Screening and quantitative estimation of factor VIII inhibitors by Nijmegen-Bethesda assay in hemophilia a patient of Southern Odisha, India

2020 ◽  
Vol 7 (2) ◽  
pp. 255
Author(s):  
Jayanti Nayak ◽  
Sonali Kar ◽  
Monali Kar
Keyword(s):  
Factor Viii ◽  
Hemophilia A ◽  
Quantitative Estimation ◽  
Current Treatment ◽  
Haemophilia A ◽  
Severe Hemophilia ◽  
Blood Products ◽  
Clotting Factors ◽  
Cross Sectional ◽  
Medical College

Background: The current treatment of haemophilia is replacement of factor VIII or IX which is effective till development of inhibitor against factors. There has been no study on factor VIII inhibitors in Southern Odisha using Nijmegen–Bethesda assay. This study was planned with objectives to screen factor VIII inhibitors in hemophilia-A patients, to do quantitative estimation of it using Nijmegen-Bethesda assay and to explore factors associated with development of inhibitors.  Methods: This cross-sectional study was carried out from September 2016 to August 2018 in Department of pathology, MKCG medical college, Berhampur. Haemophilia-A patients coming to MKCG medical college and registered Haemophilia-A cases under Haemophilia society of Berhampur were included. Patients denying consent and having multiple clotting factors deficiencies were excluded. 1.8ml blood was collected. Mixing study was done to screen factor VIII inhibitors and then in positive cases inhibitors level measured by Nijmegen-Bethesda method. All data were analysed using SPSS (version 16.0).Results: 70 cases of Hemophilia-A patients were studied. Majority (50%) were with severe hemophilia-A. 7 patients developed inhibitors where 3 were high and 4 were low responders. Inhibitor level ranged from 0.8 to 64 Nijmegen-Bethesda units. Patients with severe hemophilia A, more than 10 transfusions and who switched to receive recombinant FVIII from other blood products developed inhibitors which were significant.Conclusions: Severity of hemophilia, increase frequency of transfusion and switching of blood products significantly increases chances of inhibitor development and hence intensive inhibitor screening is needed in these cases. Quantification of inhibitor is needed to monitor treatment and to manage bleeding episodes effectively.

Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report

2018 ◽  
Vol 108 (2) ◽  
pp. 199-202 ◽  
Author(s):  
Masahiro Takeyama ◽  
Keiji Nogami ◽  
Ryohei Kobayashi ◽  
Kenichi Ogiwara ◽  
Akira Taniguchi ◽  
...  
Keyword(s):  
Case Report ◽  
Factor Viii ◽  
Orthopedic Surgery ◽  
Hemophilia A ◽  
Recombinant Factor Viii ◽  
Severe Hemophilia ◽  
First Case

T Lymphocyte Proliferative Responses Induced by Recombinant Factor VIII in Hemophilia A Patients with Inhibitors

1996 ◽  
Vol 76 (01) ◽  
pp. 017-022 ◽  
Author(s):  
Sylvia T Singer ◽  
Joseph E Addiego ◽  
Donald C Reason ◽  
Alexander H Lucas
Keyword(s):  
T Lymphocytes ◽  
Factor Viii ◽  
Cellular Proliferation ◽  
Mononuclear Cells ◽  
Hemophilia A ◽  
Normal Subjects ◽  
Normal Male ◽  
Cell Fractionation ◽  
Severe Hemophilia ◽  
Human Factor Viii

SummaryIn this study we sought to determine whether factor VUI-reactive T lymphocytes were present in hemophilia A patients with inhibitor antibodies. Peripheral blood mononuclear cells (MNC) were obtained from 12 severe hemophilia A patients having high titer inhibitors, 4 severe hemophilia A patients without inhibitors and 5 normal male subjects. B cell-depleted MNC were cultured in serum-free medium in the absence or presence of 2 µg of recombinant human factor VIII (rFVIII) per ml, and cellular proliferation was assessed after 5 days of culture by measuring 3H-thymidine incorporation. rFVIII induced marked cellular proliferation in cultures of 4 of 12 inhibitor-positive hemophilia patients: fold increase over background (stimulation index, SI) of 7.8 to 23.3. The remaining 8 inhibitor-positive patients, the 4 hemophilia patients without inhibitors and the 5 normal subjects, all had lower proliferative responses to rFVIII, SI range = 1.6 to 6.0. As a group, the inhibitor-positive subjects had significantly higher proliferative responses to rFVIII than did the inhibitor-negative and normal subjects (p < 0.05 by t-test). Cell fractionation experiments showed that T lymphocytes were the rFVIII-responsive cell type, and that monocytes were required for T cell proliferation. Thus, rFVIII-reactive T lymphocytes are present in the peripheral circulation of some inhibitor-positive hemophilia A patients. These T cells may recognize FVIII in an antigen-specific manner and play a central role in the regulation of inhibitor antibody production

Incidence of factor VIII inhibitors throughout life in severe hemophilia A in the United Kingdom

Blood ◽  
2011 ◽  
Vol 117 (23) ◽  
pp. 6367-6370 ◽  
Author(s):  
Charles R.M. Hay ◽  
Ben Palmer ◽  
Elizabeth Chalmers ◽  
Ri Liesner ◽  
Rhona Maclean ◽  
...  
Keyword(s):  
United Kingdom ◽  
Factor Viii ◽  
Hemophilia A ◽  
Interquartile Range ◽  
Severe Hemophilia ◽  
The United Kingdom ◽  
Potential Risk Factors ◽  
History Of ◽  
Previously Treated Patients ◽  
Adjusted Incidence

Abstract The age-adjusted incidence of new factor VIII inhibitors was analyzed in all United Kingdom patients with severe hemophilia A between 1990 and 2009. Three hundred fifteen new inhibitors were reported to the National Hemophilia Database in 2528 patients with severe hemophilia who were followed up for a median (interquartile range) of 12 (4-19) years. One hundred sixty (51%) of these arose in patients ≥ 5 years of age after a median (interquartile range) of 6 (4-11) years' follow-up. The incidence of new inhibitors was 64.29 per 1000 treatment-years in patients < 5 years of age and 5.31 per 1000 treatment-years at age 10-49 years, rising significantly (P = .01) to 10.49 per 1000 treatment-years in patients more than 60 years of age. Factor VIII inhibitors arise in patients with hemophilia A throughout life with a bimodal risk, being greatest in early childhood and in old age. HIV was associated with significantly fewer new inhibitors. The inhibitor incidence rate ratio in HIV-seropositive patients was 0.32 times that observed in HIV-seronegative patients (P < .001). Further study is required to explore the natural history of later-onset factor VIII inhibitors and to investigate other potential risk factors for inhibitor development in previously treated patients.

EFFICACY AND SAFETY OF MOROCTOCOG ALFA IN AN OPEN, MULTICENTER, PROSPECTIVE, CLINICAL STUDY IN CHILDREN 2 TO 6 YEARS OF AGE WITH SEVERE HEMOPHILIA A

2021 ◽  
Vol 100 (6) ◽  
pp. 154-161
Author(s):  
M.A. Timofeeva ◽  
◽  
V.V. Lebedev ◽  
O.I. Plaksina ◽  
N.I. Zozulya ◽  
...  
Keyword(s):  
Adverse Reactions ◽  
Hemophilia A ◽  
Prospective Clinical Study ◽  
Study Group ◽  
Haemophilia A ◽  
Severe Hemophilia ◽  
Efficacy And Safety ◽  
Prophylactic Dose ◽  
Traumatic Bleeding ◽  
Post Traumatic

The purpose of the study was to assess the efficacy, safety and pharmacokinetics of the moroctocog alfa (Octofactor) in children aged 2-6 with haemophilia A. Materials and methods of research : six patients between 2 and 6 years of age (average age 4.3±0.8 years) were included in the open multicenter prospective clinical trial. The efficacy of the drug was assessed against the background of the introduction of 30±10 IU/kg every 2–3 days, the safety was assessed by the frequency and causality of adverse reactions. Results: 7 post-traumatic bleeding was registered. The average prophylactic dose of the drug is 37.84±7.13 IU/kg. The dose of the drug for stopping bleeding was 1000 IU. 2 adverse events have been reported that are not related to moroсtocog alfa. Conclusion: the obtained data indicate the efficacy and safety of moroсtocog alfa in the study group of patients.

Management of Fractures in Hemophilia

PEDIATRICS ◽  
1982 ◽  
Vol 70 (3) ◽  
pp. 431-436
Author(s):  
Lawrence J. Wolff ◽  
Everett W. Lovrien
Keyword(s):  
Lower Extremity ◽  
Factor Viii ◽  
Upper Limb ◽  
Hemophilia A ◽  
Severe Hemophilia ◽  
Radiographic Evidence

Nine patients with hemophilia A suffered 16 fractures. Four patients had severe hemophilia (factor VIII &lt; 1%) and five had moderate or mild hemophilia (factor VIII between 4% and 25%). Two patients developed skeletal pseudotumors after their fractures. One patient developed neurapraxia. Fractures in hemophiliacs should be treated promptly with 25 units/kg/day of factors. Fractures of the upper limb should be maintained at this dose for seven days; lower extremity fractures should be treated with factor for 14 days. Orthopedic management should be the same as used for nonhemophiliacs. Skeletal pseudotumors should be managed with prolonged factor administration and immobilization until radiographic evidence of healing occurs.

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