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Hemophila A

Yohann Jourdy, Alexandre Janin, Mathilde Fretigny, Anne Lienhart, Claude Négrier, Dominique Bozon, Christine Vinciguerra
Incorporation of distant intronic sequences in mature mRNA is an underappreciated cause of genetic disease. Several disease-causing pseudoexons have been found to contain repetitive elements such as Alu elements. This study describes an original pathological mechanism by which a small intronic deletion leads to Alu exonization. We identified an intronic deletion, c.2113+461_2113+473del, in the F8 intron 13, in two individuals with mild hemophilia A. In vivo and in vitro transcript analysis found an aberrant transcript, with an insertion of a 122-bp intronic fragment (c...
February 1, 2018: American Journal of Human Genetics
A C Goodeve
Hemophilia B is an X-chromosome-linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factor IX activity (FIX:C) levels may also experience some bleeding. Genetic analysis has been undertaken for hemophilia B since the mid-1980s, through linkage analysis to track inheritance of an affected allele, and to enable determination of the familial mutation. Mutation analysis using PCR and Sanger sequencing along with dosage analysis for detection of large deletions/duplications enables mutation detection in > 97% of patients with hemophilia B...
July 2015: Journal of Thrombosis and Haemostasis: JTH
Paul J W Stoelinga, Walter E Berdon, M Michael Cohen
Simon van Creveld received both the MD and PhD degrees and had a multifaceted medical and scientific education at many hospitals and research institutes in the Netherlands, Germany, and the UK. He and his wife were the first to develop insulin for the Netherlands. His major interests were in hemophilia and hemorrhagic disorders, which accounted for 87 of his publications. In 1934, van Creveld demonstrated that a dispersed protein fraction obtained from serum could reduce the clotting time of hemophilic blood...
November 2014: American Journal of Medical Genetics. Part A
Min Xuan, Rong-feng Fu, Feng Xue, Yan-hui Yang, Lei Zhang, Ren-chi Yang
OBJECTIVE: To analyze the clinical characteristics, diagnosis and treatment of pediatric hemophilia in single center over the decade. METHODS: A retrospective study was conducted with 520 hemophilic children hospitalized in our medical center between January 2002 and December 2012. RESULTS: All the patients were male including 438 hemophilia A (HA) and 82 hemophilia B (HB). There were significant differences in APTT between severe and mild- to moderate hemophilia (P<0...
November 2013: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
B S Miles, P Anderson, A Agostino, M R Golomb, C Achonu, V Blanchette, B M Feldman, M McLimont, S Revel-Vilk, A Stain, M A Barnes
Brain insults are a risk factor for neuropsychological and academic deficits across several paediatric conditions. However, little is known about the specific effects of intracranial haemorrhage (ICH) in boys with haemophilia. The study compared neurocognitive, academic and socio-emotional/behavioural outcomes of boys with haemophilia with and without a history of ICH. Of 172 consecutive patients seen at a Pediatric Comprehensive Care Hemophila Centre, 18 had a history of ICH. Sixteen boys between the ages of 3 and 17 years were available for study and were matched to controls with haemophilia of the same age and disease severity and on the basis of maternal education...
March 2012: Haemophilia: the Official Journal of the World Federation of Hemophilia
C J Rea, J H Foley, J Ingerslev, B Sørensen
BACKGROUND: Abnormal thrombin generation is considered the key defect in hemophilia. Conventional treatment seeks to correct this using coagulation factor replacement or bypassing agents, for example recombinant factor VIIa (rFVIIa). Previous studies demonstrate abnormal FXIII activation in patients with hemophilia. FXIII activation is essential for formation of structurally normal, stable clots. OBJECTIVES: The present study challenges the hypothesis that in hemophilia the use of plasma-derived FXIII (pdFXIII) in combination with rFVIIa will produce a greater improvement in clot stability than promotion of thrombin generation alone...
March 2011: Journal of Thrombosis and Haemostasis: JTH
Hiroshi Mohri, Juichi Tanabe, Hiroshi Takagi, Takashi Murata
Acquired hemophilia is a life-threatening bleeding disorder by the development of autoantibody against factor VIII. The therapeutic approach relies on steroid, cyclophosphamide and/or cyclosporine. A 64-year-old man was referred to our hospital with extensive hematoma in both psoas muscles, severe anemia of 6.8 g/dl, prolonged activated partial thromboplastin time over 200 seconds, and factor VIII coagulation activity (FVIII: C) of 1.9%. A factor VIII inhibitor was detected at 118 Bethesda units (BU). The diagnosis of acquired hemophilia was made in the absence of a detectable cause...
December 2007: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
I M Al-Fawaz, A M Gader, H M Bahakim, F Al-Mohareb, A K Al-Momen, M S Harakati
The result of an eight-year retrospective analysis of patients with hereditary bleeding disorders (HBD) at King Khalid University Hospital, Riyadh, is presented. One hundred and sixty-eight patients referred for investigation for suspected bleeding disorders had bleeding symptoms which fulfilled the criteria for HBD and were categorized as follows: 1) coagulation factor deficiencies: 41 patients had hemophilia A, while 16 had hemophila B; two patients each had factors XI and XII deficiency; four patients each had factors V and VIII deficiency and one patient had factor VII deficiency...
May 1996: Annals of Saudi Medicine
Cassandra D Josephson, Thomas C Abshire
The use of plasma-derived factor products to treat hemophilia A, hemophilia B, and von Willebrand disease (vWD) has changed since the start of the human immunodeficiency virus (HIV) epidemic. The use of plasma-derived factor concentrates for hemophilias A and B has decreased in developed countries because of the availability of recombinant products. However, in developing countries, which encompass most of the world's hemophilia community, plasma-product-based therapy remains the backbone of treatment because of economic constraints...
2006: Best Practice & Research. Clinical Haematology
H Ludwig
When bleeding disorders coincide with pregnancy, they might be congenital or acquired diseases, if not arising as a more acute complication of the pregnancy itself. The paper gives a review of the most common bleeding disorders out of internal medical constellations. History taking is the most effective way to open the diagnostic approach. If childbearing is desired the couple in question should be counselled accordingly in collaboration with a hematologist. Some conditions might be unfavourable, e.g. hemophila in male offspring, others might be serious but manageable, as in v...
October 1999: Therapeutische Umschau. Revue Thérapeutique
K Yamamoto, I Takahashi
In spite of many reports of DNA abnormalities in the hemophilias, the cause of the inhibitor phenotype in the hemophilias has not yet well known. For a better understanding of this problem, we have analyzed the factor VIII and IX gene in the hemophilia A and B patients with inhibitor we are following. In four out of eight hemophilia A inhibitor patients have shown partial gene deletions. In some literature, about 60% of hemophila A inhibitor patients have shown gross gene deletions. It seems likely that the titer of inhibitor in the hemophila A patients who have gross deletions are relatively high...
May 1993: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
B Arveiler, I Oberlé, A Vincent, M H Hofker, P L Pearson, J L Mandel
We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New informative RFLPs have been found for DXS105, DXS115, and DXS152. In particular, heterozygosity at the DXS105 locus has been increased from 25% to 52%. We have shown that DXS105 and DXS152 are contained within a 40-kb region. A multipoint linkage analysis was performed in fragile-X families and in large normal families from the Centre d'Etudes du Polymorphisme Humain (CEPH). This has allowed us to establish the order centromere-DXS144-DXS51-DXS102-F9-DXS105-FRAX A-(F8, DXS15, DXS52, DXS115)...
February 1988: American Journal of Human Genetics
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