Epidemiology & social costs of haemophilia in India

A Kar, S Phadnis, S Dharmarajan… - Indian Journal of …, 2014 - journals.lww.com
India lacks a national policy on the prevention and control of genetic disorders. Although the
haemoglobinopathies have received some attention, there are scarce data on the …

Carrier detection and prenatal diagnosis of hemophilia in developing countries

F Peyvandi - Seminars in thrombosis and hemostasis, 2005 - thieme-connect.com
Hemophilia A and B, inherited as X-linked recessive traits, are the most common hereditary
hemorrhagic disorders caused by a deficiency or dysfunction of coagulation factor VIII (FVIII) …

Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients

S Mukherjee, A Mukhopadhyay, D Banerjee… - …, 2004 - Wiley Online Library
Heterogeneous mutations in factor IX (FIX) gene cause haemophilia B and a large number
of mutations have been characterized. However, reports on gene defects among Indian …

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

RPS Soares, DAF Chamone, SP Bydlowski - Haemophilia, 2001 - Wiley Online Library
In families afflicted with haemophilia A, genetic counselling is often requested. Inversion
mutations and polymorphic sites of the FVIII gene have been examined in a Brazilian …

Factor VIII gene polymorphisms in the Asian Indian population

MR Chowdhury, FH Herrmann, W Schroder… - …, 2000 - Wiley Online Library
Little is known about the heterozygous frequency of factor VIII gene markers in the Asian
Indian population. The objective of this study was to establish the heterozygous frequency of …

First‐trimester prenatal diagnosis in haemophilia A and B families—10 years experience from a centre in India

S Shetty, K Ghosh, F Jijina - Prenatal Diagnosis: Published in …, 2006 - Wiley Online Library
Abstract During the last 10 years (1995–2005) we have offered diagnosis in 438 families out
of 502 families referred, by chorionic villus sampling procedure between 10 and 12 weeks of …

Carrier analysis for hemophilia A: ideal versus acceptable

N Husain - Expert review of molecular diagnostics, 2009 - Taylor & Francis
Hemophilia A is a common inherited X-linked bleeding disorder resulting from a wide variety
of mutations in the Factor VIII (FVIII) gene located on long arm of X-chromosome at the Xq28 …

[PDF][PDF] Carrier detection and prenatal diagnosis in families with haemophilia

S Shetty, K Ghosh, A Bhide… - … MEDICAL JOURNAL OF …, 2001 - researchgate.net
Background. Haemophilias are the commonest X-linked disorders affecting approximately 1
in 10 000 male births. Detection of carrier women in families with haemophilia and …

Carrier detection and prenatal diagnosis in haemophilia in India: realities and challenges

K Ghosh, S Shetty, A Pawar, D Mohanty - Haemophilia, 2002 - Wiley Online Library
Organizing services for haemophilia in developing countries with few resources is a
formidable task. There is wide variation in haemophilia care and management between …

Robustness of factor assays following cordocentesis in the prenatal diagnosis of haemophilia and other bleeding disorders

S Shetty, K Ghosh - Haemophilia, 2007 - Wiley Online Library
Prenatal diagnosis is the generally accepted option for genetic disorders including
haemophilias and other bleeding disorders. Cord blood analysis between 17.4 and 20.6 …