ABSTRACT
A case of thalassaemia intermedia resulting from compound heterozygosity between Fr8-9 and Cap+1 mutation is presented. Patient's father had undergone premarital thalassaemia screening and was declared free of thalassaemia due to normal HbA[2] levels. We aim to discuss the clinico-haemtological features and diagnostic approach for Cap+1 mutation in carrier as well as compound heterozygous state with a beta[0] mutation
ABSTRACT
To study the haematological features and JAK2 mutation in Pakistani patients of myeloproliferative disorders. Descriptive cross sectional. Department of Heamatology, Armed Forces Institute of Pathology, Rawalpindi from Jan 2004 to Jan 2007. Forty seven consecutive patients of myeloproliferative disorders [MPD] diagnosed by the conventional haematological criteria were included in the study. The patients on treatment were excluded. Age, sex, splenic enlargement, blood complete counts and bone marrow examination findings were recorded. All patients were screened for G-T Point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific PCR Out of the 47 MPD patients, 17 [36%] had polycythaemia rubra vera [PRV], 7 [15%] had essential thrombocythaemia [ET] and 18 [38%] had idiopathic myelofibrosis [MF]. JAK2 positive was seen in 37/47 [79%] patients including 17/17 [100%] in PRV, 4/7 [57%] in ET and 13/18 [72%] in IMF. MPDs are an important group of haematology disorders in Pakistan. Vast majority of these disorders [79%] showed mutation in the JAK2 gene. JAK2 mutation analysis is especially useful in the diagnosis of polycythaemia vera where it was found in 100% of the cases