Role of molecular genetics in hemophilia: from diagnosis to therapy

GR Jayandharan, A Srivastava… - Seminars in thrombosis …, 2012 - thieme-connect.com
Despite significant advancements, state-of-the-art care remains inaccessible to patients with
hemophilia, especially those from developing countries. Thus, innovative approaches in the …

High‐resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection

FB Machado, E Medina‐Acosta - Haemophilia, 2009 - Wiley Online Library
Haemophilia A, the most common severe hereditary bleeding disorder in humans, is chiefly
caused by mutations in the coagulation factor VIII F8 gene, which maps on chromosome …

Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience

IA González‐Ramos… - American Journal of …, 2020 - Wiley Online Library
Our 25 years of experience in carrier diagnosis of hemophilia A (HA) and B (HB) in Mexican
population comprises linkage analysis of intragenic F8/F9 neutral variants along with, in …

Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population

JD Massaro, CEV Wiezel, YCN Muniz, EM Rego… - …, 2011 - Wiley Online Library
Hemophilia A is an X‐linked, inherited, bleeding disorder caused by the partial or total
inactivity of the coagulation factor VIII (FVIII). Due to difficulties in the direct recognition of the …

Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

S Shrestha, S Dong, Z Li, Z Huang… - Biomedical …, 2016 - spandidos-publications.com
Hemophilia A (HA) is the most common inherited X‑linked recessive bleeding disorder
caused by heterogeneous mutations in the factor VIII gene (FVIII). Diagnosis of the carrier is …

[HTML][HTML] A basis for prenatal diagnosis of Haemophilia-A in Pakistani patients

MA Sadiq, S Ahmed, M Afzal… - Pakistan Journal of …, 2022 - ncbi.nlm.nih.gov
Objective: To screen Haemophilia-A patients for five known recurrent F8 gene variants and
to analyze CA repeats in intron 13 of F8 gene in the mother and the affected child pairs …

Screening of intron 1 inversion and three intragenic factor VIII gene polymorphisms in Pakistani hemophilia A families

SM Bugvi, M Imran, S Mahmood, R Hafeez… - Blood coagulation & …, 2012 - journals.lww.com
Indirect linkage analysis using highly informative polymorphic markers is the method of
choice for carrier detection of hemophilia A in developing countries because direct DNA or …

[PDF][PDF] EFFICIENCY OF BELL RESTRICTION FRAGMENT LENGTH POLYMORPHISM FOR DETECTION OF HEMOPHILIA A CARRIERS IN SISTAN AND …

VA ZADEH, P Eshghi, LGH RASTGAR - 2008 - sid.ir
Background: Indirect genetic diagnosis using polymorphic DNA markers can detect carriers
of hemophilia A. This technique is preferable in developing countries because of its …

[DOC][DOC] The Use of Intron 22 Mutation in Detection of Haemophilia A Carrier in Patient's Siblings

H Kamal, S Mohamed, AS Abd Allah - Age (years) - jsc.journals.ekb.eg
Background: Hemophilia A is an X-linked recessively inherited bleeding disorder
characterized by deficiency of pro-coagulant factor VIII (FVIII). Genetic diagnosis is the most …

بررسی تنوع ژنتیکی مارکر rs4898352 در ناحیه ژنی F8 به عنوان یک مارکر گویا در مطالعه بیماری هموفیلی A در جمعیت اصفهان

سروش, کریمی, امین, ولیان بروجنی… - مجله دانشگاه علوم پزشکی …, 2016‎ - jams.arakmu.ac.ir
زمینه و هدف: هموفیلی A یک اختلال خون‌ریزی دهنده وابسته به جنس مغلوب است که به علت جهش‌های
گوناگون در ژن فاکتور ٨ که پروتئین انعقادی فاکتور 8 را کد می‌کند، رخ می‌دهد. با توجه به درجه …