92 Letters to the Editor

Letters to the Editor Blood Coagulation and Fibrinolysis 2014, 25:92–93

Hereditary thrombophilia in cerebral venous thrombosis: a study from India Laxmi V. Baxi Professor Emerita Clinical Obstetrics and Gynecology, Columbia University, New York, USA

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Baxi LV, Mayer SA, Mansukhani M. Cerebral abscess and thrombophilia in pregnancy. J Reprod Med 2001; 46 (6):606–608.

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Herrmann FH, Koesling M, Schroder W, Altman R, Jimenez Bonilla R, Lopaciuk S, et al. Prevalence of factor V Leiden mutation in various populations. Genet Epidemiol 1997; 14:403–411. DOI:10.1097/MBC.0b013e3283642ec7

Correspondence to Laxmi V. Baxi. Professor Emerita Clinical Obstetrics and Gynecology, Columbia University Medical Center, NY 10032, USA Tel: +1 917 750 9087; fax: +1 877 992 3221; e-mail: [email protected], [email protected]

I read with interest the article entitled ‘Hereditary thrombophilia in cerebral venous thrombosis: a study from India’ by Pai et al. [1]. This is a large study, involving over a period of almost 10 years. In this series, 15 pregnant patients and a total of eight of 219 had factor V mutation. It would be helpful to have the following information about this select group. How many pregnant patients had factor V mutation, were they heterozygous or homozygous, and were there any coexisting thrombophilias?

Frequency of combined factor V and factor VIII deficiency in southern Iran Hassan Mansouritorghabeh Allergy Research Center, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran Correspondence to Hassan Mansouritorghabeh, Allergy Research Center, Ghaem Hospital, Mashhad University of Medical Sciences, P.O. Box 155, 91766-99199, Mashhad, Iran Tel: +98 511 8012761; fax: +98 511 8422544; e-mail: [email protected]

Coexisting thrombophilias may have a cumulative effect or hypercoagulation status, more so in pregnancy [2]. Isolated heterozygous factor V mutation may not have an adverse effect on pregnancy outcome.

I read with interest the letter to the editor by S. Haghpanah and Prof. M. Karimi that was published in a recent issue of Blood Coagulation & Fibrinolysis [1] regarding my letter about the frequency and prevalence of combined factor V and factor VIII deficiency in southern Iran which was published 3 years ago [2].

Furthermore, India is a vast multicultural, multiethnic country, more so a metropolis like Mumbai! As the intent of this article is not to report prevalence of this mutation in controls, is the assumption correct that factor V mutation was more common in this group as compared to the rest of the population?

I read the article by M. Shahriari again and I accept that 22 reported cases have been identified in the whole of the country and that the origins of the individuals with combined factor V and VIII (CF5F8D) were not reported in that article [3].

As factor V mutation is more common in European countries and almost non-existent in an all-African population, and varying incidence all over the world [3], did patients with factor V mutation in this series belong to a particular race, religion, province of India, indicative of historical migration and foreign invasion of India over centuries? I would appreciate this opportunity to have more information in response to this letter.

Acknowledgements Conflicts of interest

There are no conflicts of interest.

References 1

Pai N, Ghosh K, Shetty S. Hereditary thrombophilia in cerebral venous thrombosis: a study from India. Blood Coagul Fibrinolysis 2013; [Epub ahead of print].

As mentioned later, collecting data on frequency of affected individuals with bleeding disorders (common and rare types) in any area is necessary information for healthcare officials and legislators to provide appropriate medical services for patients. It seems that due to a high rate of consanguinous marriage, the frequency and prevalence of CF5F8D seem to be elevated in Iran. Although the prevalence of this autosomal recessive haemorrhagic disorder is estimated to be one case in 1 000 000 population [1], a review of reported cases in some parts of Iran show that the prevalence of this haemorrhagic disorder is higher. The number of individuals with CF5F8D in Fars province was reported to be 11 cases in 2012 [1]. In terms of an estimated population of the province of about 4 500 000, a rough estimate of CF5F8D is about 2.4 affected individuals per 1 000 000 population. In reality this statistic should suggest to healthcare providers in Iran that they should pay more attention

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Letters to the Editor 93

to individuals with rare bleeding disorders including CF5F8D.

References 1 2

Acknowledgements Conflicts of interest

There is no conflict of interest associated with this manuscript.

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Haghpanah S, Karimi M. Frequency of combined factor V and VIII deficiency in southern Iran. Blood Coagul Fibrinolysis 2013; 24:458–459. Mansouritorghabeh H. Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory. Blood Coagul Fibrinolysis 2010; 21:296. Shahriari M, Sharifian G. combined factor V and VIII deficiency: report of 22 cases from 17 families. Iran J Med Sci 1995; 20:58–59. DOI:10.1097/MBC.0b013e3283655a9b

Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.

Hereditary thrombophilia in cerebral venous thrombosis: a study from India.

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