Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north‐eastern Iran

Mansouritorgabeh, H; Rezaieyazdi, Zahra; Pourfathollah, Ali Akbar; Rezai, J.; Esamaili, H.

doi:10.1111/j.1365-2516.2004.00890.x

Cited by 46 publications

(41 citation statements)

References 18 publications

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“…16 Although variability in FV and FVIII assays could contribute, the range of observed values more likely reflects the combined effects of modifier genes for FV/FVIII and environmental factors. Although most reported F5F8D patients are from the Mediterranean region, [3][4][5][6][20][21][22] an increasing number of cases have been identified in other geographic regions. 4,5,15,16,23,24 A high percentage of F5F8D patients are associated with known consanguinity and/or are homozygous for a single mutation, suggesting that the geographic distribution of this disease is due at least in part to the varying prevalence of consanguineous marriages rather than specific positive selection for heterozygous carriers.…”

Section: Discussionmentioning

confidence: 99%

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Zhou

McGee

Yamaoka

et al. 2006

Blood

112

121

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Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). LMAN1 and MCFD2 form a protein complex that functions as a cargo receptor ferrying FV and FVIII from the endoplasmic reticulum to the Golgi. In this study, we analyzed 10 previously reported and 10 new F5F8D families. Mutations in the LMAN1 or MCFD2 genes accounted for 15 of these families, including 3 alleles resulting in no LMAN1 mRNA accumulation. Combined with our previous reports, we have identified LMAN1 or MCFD2 mutations as the causes of F5F8D in 71 of 76 families. Among the 5 families in which no mutations were identified, 3 were due to misdiagnosis, with the remaining 2 likely carrying LMAN1 or MCFD2 mutations that were missed by direct sequencing. Our results suggest that mutations in LMAN1 and MCFD2 may account for all cases of F5F8D. Immunoprecipitation and Western blot analysis detected a low level of LMAN1-MCFD2 complex in lymphoblasts derived from patients with missense mutations in LMAN1 (C475R) or MCFD2 (I136T), suggesting that complete loss of the complex may not be required for clinically significant reduction in FV and

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Section: Discussionmentioning

confidence: 99%

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Zhou

McGee

Yamaoka

et al. 2006

Blood

112

121

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“…It seems more common among Jews and Iranians, where consanguineous marriages are frequent [9]. To our knowledge, this is the first case with major dental extraction reported.…”

Section: Discussionmentioning

confidence: 78%

Successful Use of Factor VIII Concentrate and Fresh Frozen Plasma for Four Dental Extractions in an Individual with Combined Factor V and VIII Deficiency

Mansouritorghabeh

Rezaieyazdi

Bagheri³

2009

Transfus Med Hemother

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Background: Combined factor V and VIII deficiency (CF5F8D) is a rare autosomal recessive disorder, with an estimated prevalence of about 1:100,000 in the Jewish population. Affected individuals have between 5 and 30% of normal levels of factor V and VIII, whereas the levels of other plasma proteins are not altered. This bleeding disorder has been treated by replacement therapy with plasma infusion and FVIII concentrate as source of factor V and VIII, respectively, depending on the severity of the haemorrhage. Case Report: The individual with CF5F8D was a 22-year-old man with APTT of 51 s (control 33 s), PT of 27 s (control 12 s), factor V of 13%, and factor VIII of 21%. He had four untreatable carious teeth, including the maxillary first premolars and the mandibular first and second right molar. Factor VIII concentrate infusion began 12 h before the first dental extraction procedure and was continued in 8 h intervals. Moreover, 10 ml/kg of fresh frozen plasma were given for compensating factor V deficiency. No remarkable haemorrhage occurred during and after the procedures. The levels of factor V and VIII post procedures were 64 and 75%, respectively. Conclusion: It seems that plasma levels of 60–75% for both factor V and VIII may be sufficient for major dental procedures.

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“…Intracranial bleeding is rare but has been reported in 1 patient of 46 reported in the 2 largest registries of this disorder (27 and 19 subjects, respectively). 76,77 Combined deficiency of factor V and factor VIII is passed down in an autosomal-recessive fashion and is attributable to a mutation of a protein of the endoplasmic reticulum-Golgi intermediate compartment (ERGIC 53) encoded by the LMAN1 gene. This protein has been shown to be important in facilitating protein transport from the endoplasmic reticulum to the Golgi apparatus.…”

Section: Combined Factor V and Factor Viii Deficiencymentioning

confidence: 99%

Evaluating for Suspected Child Abuse: Conditions That Predispose to Bleeding

Carpenter¹,

Abshire²,

Anderst³

et al. 2013

Pediatrics

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Child abuse might be suspected when children present with cutaneous bruising, intracranial hemorrhage, or other manifestations of bleeding. In these cases, it is necessary to consider medical conditions that predispose to easy bleeding/bruising. When evaluating for the possibility of bleeding disorders and other conditions that predispose to hemorrhage, the pediatrician must consider the child’s presenting history, medical history, and physical examination findings before initiating a laboratory investigation. Many medical conditions can predispose to easy bleeding. Before ordering laboratory tests for a disease, it is useful to understand the biochemical basis and clinical presentation of the disorder, condition prevalence, and test characteristics. This technical report reviews the major medical conditions that predispose to bruising/bleeding and should be considered when evaluating for abusive injury.

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Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north‐eastern Iran

Cited by 46 publications

References 18 publications

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Successful Use of Factor VIII Concentrate and Fresh Frozen Plasma for Four Dental Extractions in an Individual with Combined Factor V and VIII Deficiency

Evaluating for Suspected Child Abuse: Conditions That Predispose to Bleeding

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