Factor VIII gene rearrangements in patients with severe haemophilia A

Goodeve, Anne; Preston, F. E.; Peake, I. R.

doi:10.1016/s0140-6736(94)91165-7

Cited by 55 publications

(38 citation statements)

References 7 publications

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“…Several types of inversion have been recognized. Most often encountered is inversion type I, which involves the distal copy of the repeated unit, but types II (involves the proximal copy) and III (when more than two extragenic copies of the repeated unit are present) are also common in haemophilia A patients [10,11]. …”

Section: Introductionmentioning

confidence: 99%

“…Large inversions can be detected by either Southern hybridisation or nested RT-PCR spanning the breakpoint in intron 22. analysis and thus carrier and/or antenatal diagnosis is accomplished [10,15]. Because of the enormous variety of mutations producing the disease in the remaining 75% of cases (except for the large inversions), carrier identification and prenatal diagnosis can be accomplished by indirect detection using linked to the disease locus DNA polymorphisms.…”

Section: Introductionmentioning

confidence: 99%

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Genetic analysis of haemophilia A in Bulgaria

2004

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BackgroundHaemophilias are the most common hereditary severe disorders of blood clotting. In families afflicted with heamophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostical strategy for carriership determination and prenatal diagnostics of haemophilia A in Bulgarian haemophilic population.MethodsA diagnostical strategy consisting of screening for most common mutations in the factor VIII gene and analysis of a panel of eight linked to the factor VIII gene locus polymorphisms was established.ResultsPolymorphic analysis for carrier status determination of haemophilia A was successful in 30 families out of 32 (94%). Carrier status was determined in 25 of a total of 28 women at risk (89%). Fourteen prenatal diagnoses in women at high risk of having a haemophilia A – affected child were performed, resulting in 6 healthy boys and 5 girls.ConclusionThe compound approach proves to be a highly informative and cost-effective strategy for prevention of recurrence of haemophilia A in Bulgaria. DNA analysis facilitates carriership determination and subsequent prenatal diagnosis in the majority of Bulgarian families affected by haemophilia A.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic analysis of haemophilia A in Bulgaria

2004

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“…A level of 0.5 IU/ml is considered necessary for treating most serious muscle or joint bleeds, but for major surgery or head injuries a level of 1 IU/ml (ie, 100% of normal levels) may be required. The half-life of factor VIII is eight hours and therefore [8][9][10][11][12] hours in vivo) and once-daily treatment is sufficient except for the most serious bleeds. For factor IX, 1 IU/kg body weight will increase the plasma level by 0.01 IU/ml.…”

Section: Blood Productsmentioning

confidence: 99%

Haemophilia

Cahill

Colvin

1997

Postgraduate Medical Journal

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Summary Although the nature of haemophilia has been understood for thousands of years, knowledge of its molecular genetics is recent. These X-linked bleeding disorders have diverse underlying DNA defects and, in 1992, DNA inversion within the X chromosome was found to explain half of the most serious cases of haemophilia A. The life-span and quality-of-life for patients with haemophilia had improved steadily throughout the early 1980s but the principal cause of death remained intracranial haemorrhage until the epidemic of HIV infection due to contaminated factor concentrates. Infection with hepatitis C virus is almost universal for patients treated with clotting factors before 1985. No curative treatment is available for hepatitis C at present. Knowledge of the transmission of viruses in concentrates has led to important developments in processing techniques to eliminate them. Recombinant technology has produced factor VIII and, more recently, factor IX concentrate which is likely to be very safe. Development of inhibitors to factor concentrates (especially factor VIII) remains one of the most serious complications of haemophilia. The variety of treatments available testifies to the lack of a single universally efficacious one. The use of prophylactic treatment has been conclusively demonstrated to result in a preservation of joint function in severely affected patients who might otherwise develop significant joint problems. The many facets of the care of patients with severe haemophilia, ranging from dental care to genetic counselling, can be advantageously co-ordinated in a haemophilia comprehensive care centre.

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“…Concerning Hemophilia A, more Factor VIII gene rearrangements have been noted (Goodeve et al, 1994;Jenkins et al, 1994). In one extraordinary instance (Murru ct al., 1994), a DNA fragment from Xq2I replaced a deleted region dial spans die entire Factor VIII gene.…”

Section: Localized Disease and Normal Genesmentioning

confidence: 99%

Report of the Sixth International Workshop on Human X Chromosome Mapping 1995

Bech-Hansen¹

1995

Cytogenet Genome Res

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Factor VIII gene rearrangements in patients with severe haemophilia A

Cited by 55 publications

References 7 publications

Genetic analysis of haemophilia A in Bulgaria

Genetic analysis of haemophilia A in Bulgaria

Haemophilia

Report of the Sixth International Workshop on Human X Chromosome Mapping 1995

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