What factors influence the age at diagnosis of hemophilia? Results of the French hemophilia cohort

Chambost, Hérvè; Gaboulaud, Valérie; Coatmelec, B.; Rafowicz, Anne; Schneider, Pascale; Calvez, Thierry

doi:10.1067/mpd.2002.128115

Cited by 56 publications

(40 citation statements)

References 13 publications

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“…Also bleeding starts at an earlier age in severe form [29]. So the contact time between joint elements and toxic ferrous element is increased.…”

Section: Discussionmentioning

confidence: 99%

“…So, we decided to divide it into three divisions. We divided the sum scores into weak (FISH score 8-16), moderate (FISH score 17-24) and good (FISH score [25][26][27][28][29][30][31][32]. For evaluating the level of functional deficit in a 2 9 2 table, we categorized the weak and moderate levels into Disordered Group and the good level into Not-Disordered Group.…”

Section: Scoringmentioning

confidence: 99%

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Influencing factors on the functional level of haemophilic patients assessed byFISH

Kachooei

Badiei²,

Zandinezhad³

et al. 2013

Haemophilia

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Joint destruction in early adulthood brings the patients to the orthopaedic clinics. If a haemophilic patient becomes disabled, it shows a number of factors such as timely diagnosis, availability of appropriate treatment depending on the country, access and affordability to treatments and equally importantly the responsibility of the patient in managing self care by remaining compliant by prescribed treatment regimen. We assessed the functional level by functional independence score in haemophilia (FISH). Overall, 104 patients with haemophilia A and 29 with haemophilia B were evaluated. We assessed the function of the patients by FISH. We divided the sum scores into weak (FISH score 8-16), moderate (17-24), and good (25-32). For evaluating the level of functional deficit in a 2 × 2 table, we categorized the weak and moderate levels into Disordered Group and the good level into Not-Disordered Group. The average age was 26.9 ± 14.24. Each 1 year increase in age can increase 1.07 fold the possibility of being placed in Disordered Function Group. Severe haemophilia can increase 7.34 fold, presence of inhibitor can increase 9.75 fold and home self-care increases 3.89 fold the possibility of being placed in Disordered Function Group. To decrease the burden of the cost on patient, family and the government, education plays the most important role. We suggest that we send a trained team of physician and nurses to the deprived villages and cities instead of waiting for the patient to refer to our Care Center.

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“…Also bleeding starts at an earlier age in severe form [29]. So the contact time between joint elements and toxic ferrous element is increased.…”

Section: Discussionmentioning

confidence: 99%

Section: Scoringmentioning

confidence: 99%

Influencing factors on the functional level of haemophilic patients assessed byFISH

Kachooei

Badiei²,

Zandinezhad³

et al. 2013

Haemophilia

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“…L'étude de l'arbre généalogique, les recherches de mutations et les éventuelles études de ségrégation des haplotypes permettent habituellement de confirmer le caractère de conductrice de la mère de l'enfant hémophile, du fait d'une mutation spontanée survenue dans un gamète grand parental pour plus de la moitié des formes sporadiques. Les autres formes sporadiques correspondent en fait à une mutation de novo transmises par des femmes sur plusieurs générations avant la naissance d'un premier garçon hémophile ou à une histoire familiale oubliée [8,9]. Le taux d'hémophilie sporadique est de 24 %, selon l'étude réalisée au service d'hématologie du CHU de Sétif en Algérie, qui rejoint les données de la littérature [4,10].…”

Section: Discussionunclassified

Découverte fortuite d’une hémophilie A mineure lors d’une circoncision

Zmouli¹

2015

Le Pharmacien Hospitalier et Clinicien

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“…A number of cohort studies have examined the initial presentation of these conditions and have found that in 42-57% of cases there is no apparent prior family history of hemophilia [1][2][3][4]6]. It is estimated from molecular studies that at least 30% of newly diagnosed cases of hemophilia occur as a consequence of a new mutation, affecting either the male propositus or more usually a female carrier in whom there may be no personal history of bleeding problems [7].…”

Section: Family History and Genetics Of Hemophiliamentioning

confidence: 99%

“…Baehner and Strauss reported in 1966 that fewer than 10% of severe hemophiliacs were identified in the newborn period despite unusual bleeding in 22% [1]. Subsequent studies have shown that between 52% and 68% of babies with severe hemophilia are diagnosed as neonates [2][3][4]. However, despite a positive family history, up to 59% are only diagnosed at the time of the first bleed [4] and the diagnosis is delayed despite unusual bleeding in up to 87.5% [1,4].…”

Section: Introductionmentioning

confidence: 99%