Factor XIII deficiency in south‐east Iran

Eshghi, Peyman; Abolghasemi, Hassan; Sanei-Moghaddam, Esmail; Anwar, Rashida; Jazebi, Mohammad; Amid, Ali; A., F.

doi:10.1111/j.1365-2516.2004.00951.x

Cited by 20 publications

(18 citation statements)

References 5 publications

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“…The common mutations in five different subunits of FXIII-A gene are shown in Table 1. Previous studies reported Arg77His and Trp187Arg as the most common mutations (10). Considering the high rate of consanguineous marriages, the great homogeneity in the population and mutations was seen in this area.…”

Section: Discussionmentioning

confidence: 86%

“…This high prevalence might be due to the consanguineous marriage as more 70% of marriages are consanguineous in this province (10). In this area, the number of patients diagnosed were Significantly increased from 45 in 2006 to 205 cases in 2012, (16).…”

Section: Discussionmentioning

confidence: 96%

“…The number of FXIII deficient cases were few in the other parts of the world, for example, in UK it was 26 cases (7) and 72 cases were recognized in a vast study carried out in European Coagulation Disorders Research Center (1996) (17). Frequency ratio of factor XIII deficiency to blood coagulation disorders was reported in 62% Caucasians, 6% in African-America, 19% in Latinos, 3% in Asian (7) whereas Factor XIII deficiency is the second most common blood coagulation disorders in southeast of Iran (10). In the present study, we showed that c.559T > C mutation was the most common mutation (more than 95%) G → A at position -246 upstream of exon 1; T → C and C → T at positions -23 and -24, respectively, in intron nine in patients with FXIII hemophilia who originated from the North of Pakistan, the neighboring country of this province (19).…”

Section: Discussionmentioning

confidence: 99%

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Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran

2014

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Background: Congenital factor XIII (FXIII) deficiency is a rare severs autosomal recessive bleeding disorder. Objectives: The aim of the study was to determine the c559T > C FXIIIA genotype frequency in patients with FXIII hemophilia who lived in Sistan and Balouchestan province in southeast of Iran. Patients and Methods:We determined the genotype of 180 patients with Factor XIII hemophilia by tetra-primer amplification refractory mutation system-polymerases chain reaction (T-ARMS-PCR). Results:The frequency of C559T > C was 96.6% and T-ARMS-PCR was an efficient tool for detecting this genotype. Moreover, the result showed that C559T > C mutation was a risk factor for FXIIIA deficiency in a sample of Iranian population. Conclusions: Due to highest prevalence of FXIII deficiency (70 times higher than the global average), FXIII deficiency must be consider as the most underdiagnosed bleeding disorder in this area. Hence, proper screening systems alongside common screening tests to identify carriers seem necessary. Due to the limited mutations, T-ARMS-PCR with sound speed, accuracy, sensitivity, and cheapness can be used to screen for these mutations.

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran

2014

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“…The interesting point is that FXIIID in this province has the highest number of affected individuals in the world. In 2004, the number of patients with FXIIID in this province was 46 cases reported by Eshghi et al [5]. Subsequently, Naderi et al [4] in 2012 reported the stunning number of 205 patients with FXIIID in this area, while this province has more than 350 registered cases in the hemophilia center today.…”

Section: Discussionmentioning

confidence: 88%

Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran

Naderi

Reykande

Dorgalaleh

et al. 2016

Blood Coagulation &Amp; Fibrinolysis

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Factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with a prevalence of 1 in 3 million in the general population. Compared to its global incidence, it has the greatest prevalence in Sistan and Baluchistan Province in the southeast of Iran. The high incidence of FXIIID in this region causes a high rate of morbidity and mortality among the affected individuals because of life-threatening episodes such as central nervous system (CNS) bleeding, umbilical cord bleeding, as well as miscarriage. CNS bleeding leads to a considerable number of neurological and behavioral complications. Therefore, we have designed an established prenatal diagnosis (PND) program to prevent the increasing incidence of life-threatening bleeding episodes and related complications among neonates with congenital FXIIID. This study was conducted from September 2013 to August 2014. A consent form was signed by the parents. Fetal sampling was done via abdominal chorionic villus sampling passage under local anesthesia and ultrasonic guidance within the first trimester of pregnancy. Fetal DNA was extracted, and PCR-restriction fragment length polymorphism was performed for the only reported mutation of FXIII (Trp187Arg) in the southeast of Iran. During the period of study, PND was performed on eight fetuses. Six fetuses were offspring of parental consanguineous marriages, and all of them had a positive family history of FXIIID. Seven out of the eight fetuses had a family member with CNS bleeding due to FXIIID. Four fetuses had a FXIIID-related death. One of the fetuses bore homozygous Trp187Arg mutation, whereas six were heterozygous, and one of the mothers gave birth to an unaffected fetus. To the best of our knowledge, PND is a possible solution to control high incidence of life-threatening episodes of FXIIID in southeast Iran.

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“…En los tipos I y III es infrecuente el sangrado, y casi no hay complicaciones en el embarazo; sin embargo pueden presentar metrorragia postparto (27,28).…”

Section: Otros Trastornos Infrecuentes De La Coagulaciónunclassified

Manejo Intraparto De Embarazadas Con Trastornos Hereditarios De La Coagulación

O¹,

C²,

C.³

et al. 2006

Rev. chil. obstet. ginecol.

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RESUMENLas coagulopatías hereditarias que afectan a mujeres jóvenes, representan un problema durante el embarazo, debido a que conllevan un aumento significativo en el riesgo de hemorragia durante el embarazo, parto y puerperio. Las alteraciones más frecuentes corresponden a la enfermedad de von Willebrand (1 a 2% de la población) y la hemofilia A (1/10.000 personas). Presentamos el caso clínico de una embarazada con antecedentes familiares de hemofilia A que controló su embarazo en nuestro centro; además entregamos una revisión sobre el tema coagulopatías hereditarias y embarazo. Casos Clínicos INTRODUCCIÓNLa hemostasia comprende el conjunto de mecanismos que se desencadenan para prevenir la pérdida de sangre tras una injuria vascular (1, 2). Los mecanismos involucrados son esencialmente: a) la vasoconstricción vascular, que disminuye el flujo sanguíneo al sitio de la lesión y reduce la pérdida de sangre, b) la adhesión y agregación de las plaquetas a la pared del vaso lesionado o hemostasia primaria, y c) la activación de los factores de la coagulación, que a modo de cascada, lleva a la formación de una red estable de fibrina sobre el trombo plaquetario o hemostasia secundaria.Las alteraciones que significan disminución en la capacidad hemostática (también llamadas coagulopatías), pueden ocurrir por trastornos en los mecanismos de la hemostasia primaria o secundaria. Los trastornos hereditarios de la hemostasia primaria son los más frecuentes, y son causados por la alteración, cualitativa o cuantitativa, de las plaquetas y/o del factor von Willebrand. Los trastornos congénitos de la hemostasia secundaria son infrecuentes, y son causados por mutaciones del gen que codifica uno o varios de los factores implicados en la cascada de la coagulación (3, 4).Las mujeres con coagulopatías presentan, durante el embarazo, parto y puerperio, un riesgo

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Factor XIII deficiency in south‐east Iran

Cited by 20 publications

References 5 publications

Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran

Unusual Prevalence of c559T > C Mutation in Patients with Factor XIII deficiency in Southeast of Iran

Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran

Manejo Intraparto De Embarazadas Con Trastornos Hereditarios De La Coagulación

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