Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field OBJECTIVES: The aim of the study was to define the phenotype in three families with mild haemophilia A and to determine restriction fragment length polymorphisms (RFLP), which could support...
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/120348 2023-05-15T16:47:43+02:00 Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation Jensson, O Stenbjerg Bernvil, S Jonsdottir, S Ingerslev, J Department of Medical Genetics, Blood Bank, National University Hospital, Reykjavík, Iceland. 2011-01-25 http://hdl.handle.net/2336/120348 https://doi.org/10.1111/j.1365-2796.1994.tb01101.x en eng Blackwell Scientific Publications http://dx.doi.org/10.1111/j.1365-2796.1994.tb01101.x J. Intern. Med. 1994, 235(5):443-50 0954-6820 8182400 doi:10.1111/j.1365-2796.1994.tb01101.x http://hdl.handle.net/2336/120348 Journal of internal medicine Adolescent Adult Aged Child Preschool Female Hemophilia A Hemorrhage Humans Iceland Male Middle Aged Mutation Pedigree Phenotype Article 2011 ftlandspitaliuni https://doi.org/10.1111/j.1365-2796.1994.tb01101.x 2022-05-29T08:21:41Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field OBJECTIVES: The aim of the study was to define the phenotype in three families with mild haemophilia A and to determine restriction fragment length polymorphisms (RFLP), which could support a hypothesis of a common progenitor of the families. DESIGN: Family survey. SETTING: Index cases were identified in and outside hospital and a family survey for symptoms and signs of bleeding in family members and sampling for coagulation and RFLP studies were mostly carried out in the field. SUBJECT: Family members with and without symptoms of bleeding were selected for investigation and normal spouses and unrelated individuals were investigated for control. INTERVENTIONS: Medical advice regarding affected family members were given to the families and their physicians. MAIN OUTCOME MEASURES: Bleeding time, factor VIII activity, quantification of factor VIII:Ag, von Willebrand factor (vWF) Ag and vWF ristocetin assay. Typing of RFLP polymorphisms for genetic homogeneity. RESULTS: Bleeding manifestations are present in both sexes in the three families although more frequent and more severe in the males. The level of factor VIII activity is between 10 and 20% in most affected males whereas 35-60% is found approximately in 2/3 of female carriers and in 1/3 of them factor VIII activity is within the normal range. It is suggested that screening for this mild haemophilia A gene by a molecular genetic method would be of clinical value now, its mutation having been detected. CONCLUSIONS: Transmission of mild haemophilia A through six to seven generations is demonstrated by the study. The mild haemophilia A type described is the most prevalent of haemophilia A types in Iceland (population 260,000, 1992). The founder effect was confirmed by studies of RFLP polymorphisms Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Journal of Internal Medicine 235 5 443 450 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Adolescent Adult Aged Child Preschool Female Hemophilia A Hemorrhage Humans Iceland Male Middle Aged Mutation Pedigree Phenotype |
spellingShingle |
Adolescent Adult Aged Child Preschool Female Hemophilia A Hemorrhage Humans Iceland Male Middle Aged Mutation Pedigree Phenotype Jensson, O Stenbjerg Bernvil, S Jonsdottir, S Ingerslev, J Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation |
topic_facet |
Adolescent Adult Aged Child Preschool Female Hemophilia A Hemorrhage Humans Iceland Male Middle Aged Mutation Pedigree Phenotype |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field OBJECTIVES: The aim of the study was to define the phenotype in three families with mild haemophilia A and to determine restriction fragment length polymorphisms (RFLP), which could support a hypothesis of a common progenitor of the families. DESIGN: Family survey. SETTING: Index cases were identified in and outside hospital and a family survey for symptoms and signs of bleeding in family members and sampling for coagulation and RFLP studies were mostly carried out in the field. SUBJECT: Family members with and without symptoms of bleeding were selected for investigation and normal spouses and unrelated individuals were investigated for control. INTERVENTIONS: Medical advice regarding affected family members were given to the families and their physicians. MAIN OUTCOME MEASURES: Bleeding time, factor VIII activity, quantification of factor VIII:Ag, von Willebrand factor (vWF) Ag and vWF ristocetin assay. Typing of RFLP polymorphisms for genetic homogeneity. RESULTS: Bleeding manifestations are present in both sexes in the three families although more frequent and more severe in the males. The level of factor VIII activity is between 10 and 20% in most affected males whereas 35-60% is found approximately in 2/3 of female carriers and in 1/3 of them factor VIII activity is within the normal range. It is suggested that screening for this mild haemophilia A gene by a molecular genetic method would be of clinical value now, its mutation having been detected. CONCLUSIONS: Transmission of mild haemophilia A through six to seven generations is demonstrated by the study. The mild haemophilia A type described is the most prevalent of haemophilia A types in Iceland (population 260,000, 1992). The founder effect was confirmed by studies of RFLP polymorphisms |
author2 |
Department of Medical Genetics, Blood Bank, National University Hospital, Reykjavík, Iceland. |
format |
Article in Journal/Newspaper |
author |
Jensson, O Stenbjerg Bernvil, S Jonsdottir, S Ingerslev, J |
author_facet |
Jensson, O Stenbjerg Bernvil, S Jonsdottir, S Ingerslev, J |
author_sort |
Jensson, O |
title |
Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation |
title_short |
Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation |
title_full |
Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation |
title_fullStr |
Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation |
title_full_unstemmed |
Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation |
title_sort |
mild haemophilia a in iceland: clinical genetic studies of three families with the same mutation |
publisher |
Blackwell Scientific Publications |
publishDate |
2011 |
url |
http://hdl.handle.net/2336/120348 https://doi.org/10.1111/j.1365-2796.1994.tb01101.x |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1111/j.1365-2796.1994.tb01101.x J. Intern. Med. 1994, 235(5):443-50 0954-6820 8182400 doi:10.1111/j.1365-2796.1994.tb01101.x http://hdl.handle.net/2336/120348 Journal of internal medicine |
op_doi |
https://doi.org/10.1111/j.1365-2796.1994.tb01101.x |
container_title |
Journal of Internal Medicine |
container_volume |
235 |
container_issue |
5 |
container_start_page |
443 |
op_container_end_page |
450 |
_version_ |
1766037811535806464 |