Services >> Clinical and Laboratory Services >> Haemostasis Disorders

Continuing with the tradition of special services for the diagnosis and treatment of the common haemostasis disorders we have established the most comprehensive services available any where in the country for these diseases. Apart from clinical management with diagnosis and treatment we have one of the most comprehensive services for genetic diagnosis for a whole range of coagulation and platelet disorders available at any center anywhere in the world. Surgery for the patients and comprehensive care team that involves several other departments is also unique to the institution. In recognition of work done in this field particularly related to haemophilia, the department recognized as an International Haemophilia Training Center of the World Federation of Haemophilia (WFH) since 2000 to provide training in various aspects of care of people with haemophilia to health care personnel from different developing countries. Dr. G. Jayandharan did his PhD on the genetics of haemophilia in India and also studies the phenotypic heterogeneity of severe haemophilia. Faculties from the department are internationally recognized in this field.

We now offer molecular diagnosis for the following disorders of coagulation.

• Fibrinogen deficiency
• Prothrombin deficiency
• Factor V deficiency
• Combained Factor V and VIII deficiency
• Factor VII deficiency
• Factor VIII deficiency (Haemophilia A)
• Factor IX deficiency (Haemophilia B)
• Factor X deficiency
• Factor XI deficiency
• Factor XIII deficiency
• Glanzmann's thrombasthenia
• Bernard Soulier Syndrome
• Wiskott-Aldrich Syndrome
• Leukocyte Adhesion deficiency

List of Tests

Haemophilia A

Molecular analysis of Factor (F) 8 gene polymorphic markers including,

• Intron 22 XbaI Restriction fragment Length Polymorphism (RFLP)
• Intron 19 Hind III - RFLP
• Intron 13 CA repeats
• Intron 22 CA repeats by Genescan
• Intron 7 (AlWN1)
• St14 (DX552)

Intron 1 inversion by long PCR

Detection Factor (F) 8 gene Intron 22 inversion by long PCR

Detection of FVIII gene mutations by Multiplex-PCR and Conformation Sensitive Gel electrophoresis (CSGE), DNA sequencing

Haemophilia B

Mutation screening of F9 gene by Multiplex PCR, CSGE and DNA sequencing

Rare Coagulation Factor deficiencies

Mutation analysis of Fibrinogen FI, FII (Prothrombin), Combined Factor V and VIII deficiency, Factor VII, Factor VIII deficiency (Haemophilia A), Factor IX deficiency (Haemophilia B), Factor X, Factor XI, Factor XIII deficiency.

Platelet disorders

Glanzmann's thrombasthenia

Bernard Soulier Syndrome

• Mutation screening of Glycoprotein IIb/IIIa genes by multiplex PCR and CSGE.
• Western Blotting to detect the presence or absence of GPIIb/IIIa proteins.

Antenatal Diagnosis for all the above mentioned Bleeding Disorders

Congenital defects of platelets or plasma proteins involved in blood coagulation generally lead to bleeding disorders. Hemophilia and Von Willebrand disease are the most common while defects in other plasmatic coagulation proteins and platelet factors are relatively rare with an incidence of ≤1: 1-2 million. Despite significant advancements, due to cost and availability, state of the art care is inaccessible to a vast majority of patients in India. Genetic diagnosis aimed at offering carrier detection and prenatal diagnoses thus remain an important part of evaluation of patients in India. Over the last decade (2000-2012), we have systematically established cost-effective genetic diagnoses services for not only hemophilia A and B but for other rare bleeding disorders [Factor (F) 1, F2, F5F8, F7, F10, F11, F13] and platelet disorders [Glanzmann Thrombasthenia, Bernard Soulier Syndrome, Wiskott Aldrich Syndrome] as well. Our approach for molecular diagnosis includes screening the target genes for common mutations first, followed by point mutation screening by PCR and conformation sensitive gel electrophoresis and DNA sequencing strategy. For large genes such as F8 (186kb), ITG2B and ITG3A (65kb), we employ multiplex amplification of the coding regions to simplify the mutation detection protocols. Alternately, linkage analysis has also been established for some diseases such as hemophilia A, hemophilia B and Glanzmann Thrombasthenia. The development of efficient diagnostic algorithms for each of the bleeding disorder has helped to limit the turnaround time for prenatal diagnosis to an average of 5-7 days.

If you have a bleeding disorder and are interested in performing genetic diagnosis for your condition contact us by email at haemat@cmcvellore.ac.in. Please note that for antenatal diagnosis, the disease causing mutation in the family needs to be identified first. Thus contacting the department early into a pregnancy is advised.

Thrombophilia

Screening of

• Factor V Leiden (G1691A)
• Prothrombin G20210A
• MTHFR C677T mutations by PCR and RFLP.

Others

• WAS- Wiskott-aldrich syndrome
• LAD- Leukocyte adhesion deficiency

Sample requirement/ turn around time