Prevalence of JAK2 V617F mutation in Indian patients with chronic myeloproliferative disorders.
OBJECTIVE
The Janus-associated Kinase-2 mutation JAK2 V617F in chronic myeloproliferative disorders (CMPDs) has been described as a frequent genetic event in majority of patients with polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Its frequency varies in different populations but there are no data from India. We therefore, looked for JAK2 V617F mutation in Indian patients with chronic myeloproliferative disorders.


METHODS
Mutation screening for JAK2 V617F in patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis was performed in 75 patients attending Haematology clinic in a tertiary care hospital in north India, by polymerase chain reaction and restriction enzyme-based assay.


RESULTS
JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. The presence of JAK2 V617F mutation was associated with a higher haemoglobin level (P<0.05), a higher white blood cell count (P<0.01) and higher age (P<0.05).


CONCLUSIONS
The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders. Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial evaluation of patients suspected to have CMPD.
Sazawal
Sudha
S
Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Bajaj
Jyoti
J
Chikkara
Sunita
S
Jain
Sonal
S
Bhargava
Rahul
R
Mahapatra
Manoranjan
M
Saxena
Renu
R
D000367:Age Factors; D004587:Electrophoresis, Agar Gel; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007194:India / Q000453:epidemiology; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D020125:Mutation, Missense / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000453:epidemiology* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015995:Prevalence; D015183:Restriction Mapping; D018709:Statistics, Nonparametric
D006454:Hemoglobins; C507924:JAK2 protein, human; D053614:Janus Kinase 2