e-Abstracts Journal of Haematology Pakistan

JCPSP

Saeed Akhtar Khan Khattak, Suhaib Ahmed, Jaleel Anwar, Manzar Bozdar.
Frequency of Janus associated kinase 2 (V617F) mutation in patients of polycythemia vera.
J Coll Physicians Surg Pak. 2012 Feb;22(2):80-3.

Objective: To determine the frequency of Janus associated kinase 2 (JAK2) mutation in patients of polycythemia vera (PV). Study Design: Descriptive cross-sectional. Place and Duration of Study: Haematology Department, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from January 2008 to December 2009. Methodology: Forty-six consecutive patients of PV diagnosed by the conventional haematological criteria were included in the study. Blood samples of all patients were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by an allele specific polymerase chain reaction (PCR). Results: JAK2 V617F mutation was found in 43 out of 46 patients (93.5%) with PV. Among them, 30 were males (65.2%) and 16 were females (34.8%). Mean TLC in patients with PV was 16.5 ± 9.1 x 109 /L, mean haemoglobin (Hb) was 17.8 ± 2.0 g/dl, mean platelet count was 531 ± 261 x 109/L, mean PCV was 57.9 ± 6.3 l/l, mean MCV was 78.8 ± 11.0 fl and mean MCH was 24.4 ± 4.8 pg.

Conclusion: Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients.

Jawad Zafar Chaudry, Suhaib Ahmed, Tanveer Zia Qureshi, Nadir Ali.
Real time polymerase chain reaction for the detection of malarial parasite.
J Coll Physicians Surg Pak. 2012 Feb;22(2):98-100.

Objective: To evaluate the sensitivity and specificity of real time polymerase chain reaction (PCR) for the detection of Malarial parasite. Study Design: Descriptive cross-sectional study. Place and Duration of Study: The Armed Forces Institute of Pathology (AFIP), Rawalpindi, from April to June 2010. Method-ology: A total of 60 Leishman stained blood films with clinical suspicion of malaria were studied by light microscopy for detection of malaria parasite (MP). The samples were also subjected to real time PCR for the small subunit (SSU) rRNA gene of MP found in all the four subspecies of Plasmodium. Real time PCR was done by the Taqman probe method. One sample positive for MP was serially diluted with ABO compatible blood, and light microscopy and real time PCR were performed on all dilutions. Results of light microscopy and real time PCR were compared. Sensitivity and specificity were calculated using PCR as the gold standard. Results: PCR detected MP in 33 samples with sensitivity and specificity of 100% whereas light microscopy could detect MP in 30 samples. Sensitivity and specificity of light microscopy was 90.9% and 100% respectively. In the serially diluted blood sample, MP was visible at 1/16 dilution whereas the PCR showed positive results even at 1/512 dilution. Conclusion: Real time PCR is more sensitive than light microscopy for the detection of malarial parasite.

Mussarat Ashraf, Zaiba Sher, Nabila Irum.
Bleeding disorders in obstetrics and gynaecological practice.
J Coll Physicians Surg Pak. 2012 Mar;22(3):192-3.

The objective of the study was to determine the frequency, types, presenting symptoms and management options in patients with bleeding disorders in the local obstetric and gynaecological practice. This was a descriptive study of oneyear duration conducted at the Pakistan Atomic Energy Commission General Hospital, Islamabad. Types of bleeding disorders in decreasing order of frequency were HELLP syndrome in 27.7% (n=5), gestational thrombocytopenia in 22% (n=4), Von Willbrand disease in 16.66% (n=3), Glanzmann’s thrombesthenia in 11.11% (n=2), autoimmune haemolytic anaemia in 11.11% (n=2), post-transfusion purpura in 6% (n=1) and factor V deficiency in 6% (n=1). HELLP syndrome and gestational thrombocytopenia were the commonest bleeding disorders in pregnant patients and Von Willebrand disease is the the commonest bleeding disorder in gynaecological patients with menorrhagia.

Fouzia Ishaq, Hasnain Abid, Farkhanda Kokab, Adil Akhtar, Shahid Mahmood.
Awareness among parents of b-thalassemia major patients, regarding prenatal diagnosis and premarital screening.
J Coll Physicians Surg Pak. 2012 Apr;22(4):218-21.

Munira Borhany, Meena Kumari, Tahir Shamsi, Arshi Naz, Tasneem Farzana.
Frequency of factor VIII (FVIII) inhibitor in haemophilia A.
J Coll Physicians Surg Pak. 2012 May;22(5):289-93.

Syed Asif Masood, Anita Zaidi.
Post-transfusion hypertension, convulsion and intracranial haemorrhage in b-thalassemia major
J Coll Physicians Surg Pak. 2012 Jul;22(7):473-5.

Naureen Mushtaq, Rabia Wali, Zehra Fadoo, Ali Faisal Saleem.
Acute lymphoblastic leukemia in a child with Fanconi's anaemia.
J Coll Physicians Surg Pak. 2012 Jul;22(7):458-60.

Muhammad Saboor, Moinuddin, Muhammad Abdul Razzaq, Naeem Tahir.
Soluble transferrin receptors in malaria.
J Coll Physicians Surg Pak. 2012 Jul;22(7):432-4.

Tanzeel Imran, Lubna Zafar, Madeeha Rehan, Aqsa Nasir, Parveen Akhtar Tariq, Iffat Batool.
Chediak-higashi syndrome presenting in accelerated phase
J Coll Physicians Surg Pak. 2012 Aug;22(8):539-41.

Parvez Ahmed et al.
Outcome of allogeneic haematopoietic stem cell transplantation in aplastic anaemia.
J Coll Physicians Surg Pak. 2012 Sep;22(9):553-9.

Naheed Sultan, Mahvesh Khalid, Sarah Rafi Khan, Fahadullah Khan.
Non-hodgkin's lymphoma of the breast presenting as breast abscess during pregnancy.
J Coll Physicians Surg Pak. 2012 Oct;22(10):657-8.

Lena Jafri, Nosheen Nasir, and Aysha Almas.
Multifocal Venous Thrombosis in Behcet's Disease.
J Coll Physicians Surg Pak. 2012 Nov;22(11):730-2.

Behcet's disease is a multisystem inflammatory vascular disorder with a chronic course characterized by recurrent oral and genital ulcers, eye lesion, arthritis and skin lesions. It has a typically waxing and waning course. The cause and pathogenesis of the disease are unclear and specific treatment is not available. A 39 years old man presented with rash, ocular manifestation and left leg swelling. He was found to have deep venous thrombosis of left leg along with recurrent cerebral venous thrombosis. He was a known case of Behcet's disease since 3 years and had been on anticoagulants since then.

Lubna Zafar, Aamir Husain, Wahid Haroon, M. Ishaq Shaikh, Shahid Azim Mirza, and Ziaullah Khan.

Interferon-induced Central Retinal Vein Thrombosis.
J Coll Physicians Surg Pak. 2012 Nov;22(11):730-2.

A middle-aged lady presented with sudden onset of unilateral central retinal vein thrombosis after completing 6 months course of interferon and ribavirin for chronic hepatitis C infection. She had no risk factors and all her thrombophilia workup was normal, however, she was found to be dyslipidemic which may have contributed to atherosclerosis and predispose to thrombosis. Despite anticoagulation, her visual acuity deteriorated. This case illustrates the possibility of unpredictable visual complication of interferon. Frequent eye examination should be undertaken in patients having underlying risk factors like diabetes, hypertension or dyslipidemia undergoing interferon therapy.

Md. Mujibur Rahman, Syed Ghulam Mogni Mowla, Abdur Rahim, Fazle Rabbi Chowdhury, Sharmin Jahan, and Mohammad Nazmul hasan.

Severe Haemolytic Anaemia Due to Ingestion of Naphthalene (Mothball) Containing Coconut Oil.

J Coll Physicians Surg Pak. 2012 Nov;22(11):740-1.

Naphthalene, a widely used industrial and household chemical, has rarely been an agent of poisoning worldwide. Severe haemolysis from naphthalene poisoning is rare and can be a challenge to clinicians. We report a 22-year-old female, who accidentally ingested naphthalene mixed coconut oil and got admitted with recurrent vomiting, headache and passage of dark urine. Severe intravascular haemolysis with hypotension and neutrophilic leukocytosis was detected. She was treated with red blood cell transfusions, intravenous saline infusion and ascorbic acid.

Ghassan Umair Shamshad, Suhaib Ahmed, Farhat Abbas Bhatti and Nadir Ali
Mixed Donor Chimerism in Non-Malignant Haematological Diseases after Allogeneic Bone Marrow Transplantation.

J Coll Physicians Surg Pak. 2012 Dec;22(2):98-100.

Objective: To determine the frequency of mixed donor chimerism in patients of non-malignant haematological diseases after allogeneic bone marrow transplant. Study Design: A cross-sectional, observational study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from July 2010 to June 2011. Methodology: Donor chimerism was assessed in patients of aplastic anaemia and beta-thalassaemia major who underwent allogeneic bone marrow transplantation (BMT). Peripheral blood samples were used to assess chimerism status by analysis of short tandem repeats (STR). In patients where pre-transplant blood sample was not available, swab of buccal mucosa was used for pre-transplant STR profile. A standard set of primers for STR markers were used and the amplified DNA was resolved by gel electrophoresis and stained with silver nitrate. The percentage of donor origin DNA was estimated by densitometer. Results: Out of 84 patients, 52 (62%) were males, while 32 (38%) were females. In patients of beta-thalassaemia major, 31 (62%) developed mixed donor chimerism (MC), 13 (26%) developed complete donor chimerism (CC) and 6 (12%) had graft failure. In aplastic anaemia, 17 patients (50%) achieved MC, 13 (38.2%) had CC and 4 (11.8%) developed graft failure. The combined frequency of mixed donor chimerism for both the diseases was 58.3%. D3S1358 was the most informative STR marker in these patients. Conclusion: Majority of the studied patients developed mixed donor chimerism following bone marrow transplantation, whereas only a minor percentage of the patients had graft failure. Analysis of D3S1358 was the most informative in

assessing donor chimerism in patients who underwent BMT.

JPMA

Aslam Khan, Azhar Ali Chaudhry, Uzair Khan.
Falciparum - the masquerader.
J Pak Med Assoc. 2012 Jan;62(1):12-3.

Saeed Akhtar Khan Khattak, Suhaib Ahmed, Nadir Ali, Jaleel Anwar, Kashif Hafeez Shaikh.
Prevalence of various mutations in beta thalassaemia and its association with haematological parameters.
J Pak Med Assoc. 2012 Jan;62(1):43-6.

Muhammad Masudul Hassan Nuri, Shahid Hafeez.
Autologous bone marrow stem cell transplant in acute myocardial infarction.
J Pak Med Assoc. 2012 Jan;62(1):5-9.

Zehra Fadoo, Naureen Mushtaq, Saima Alvi, Muhammad Ali.
Acute myeloid leukaemia in children: experience at a tertiary care facility of Pakistan.
J Pak Med Assoc. 2012 Feb;62(2):125-8.

Waqar Hussain, Asma Batool, Tahir Aziz Ahmed, Muhammad Mukarram Bashir.
Severe combined immunodeficiency due to adenosine deaminase deficiency.
J Pak Med Assoc. 2012 Mar;62(3):297-9.

Muhammad Sohail Mansoor, Muhammad Bilal Salman Khan.
A case of cyclic neutropenia in adults
J Pak Med Assoc. 2012 Mar;62(3):289-90.

Munira Borhany et al.
Guidelines on the laboratory diagnosis of congenital bleeding disorders in Pakistan
J Pak Med Assoc. 2012 May;62(5):477-86.

Mian Muhammad Rizwan, Parveen Gaba.
Extranodal non-hodgkin's lymphoma in HIV.
J Pak Med Assoc. 2012 Jul;62(7):733-4.

Fauzia Shafi Khan, Rabiya Fayyaz Hasan.
Bone marrow examination of pancytopenic children.
J Pak Med Assoc. 2012 Jul;62(7):660-3.

Noureen Afzal, Ammara Mushtaq, Arshalooz Rahman, Sonia Qureshi.
Idiopathic pulmonary haemosiderosis presenting as severe iron deficiency anaemia - a case from Pakistan.
J Pak Med Assoc. 2012 Aug;62(8):845-7.

Syed Furqan Haider Sherazi, Zeeshan Butt.
Massive splenomegaly in acute erythroid leukaemia (FAB class-M6): an unusual presentation.
J Pak Med Assoc. 2012 Sep;62(9):989-90.

AML-M6 has a peak incidence in the seventh decade with slight male preponderance, and can also present at a younger age. The usual features are anaemia, thrombocytopenia, malaise, fatigue, easy bruising, epistaxis and petechiae. Splenomegaly may occur in 20-40 % of the cases but massive splenomegaly is rare presentation and have been only reported once in humans and once in animals. A 22 year Asian female, presented with fatigue, pallor, mild jaundice, exertional dyspnoea ,epigastric pain, tender right hypochondrium and massive splenomegaly. Investigations revealed anaemia and thrombo-cytopenia, tear drop cells, basophilic stippling, piokilocytosis and anisochromia; increased uric acid and LDH. Abdominal ultrasound showed enlarged liver (22cm) and spleen (20cm). Bone marrow aspiration revealed 51% erythroid and 24% non-erythroid precursors, depressed leukopoeisis and megakarypoeisis. Erythroblasts were PAS and CD71 positive and also reacted to Antihaemoglobin-Antibody. This report highlights characteristic features and diagnostic criteria of erythroleukaemia, differential diagnosis of massive splenomegaly and their rare association.

Neelam Iqtidar, Muhammad Naeem Chaudary.
Misdiagnosed vitamin B12 deficiency a challenge to be confronted by use of modern screening markers
J Pak Med Assoc. 2012 Dec;62(12):1223-9.

Vitamin B12 deficiency is one of the common conditions in the elderly population leading to confusion, depression, memory loss and balance problems. Unfortunately there is no gold standard test for the diagnosis of cobalamin deficiency and a wide range of variation in reference levels according to country, and laboratory assay used. This poses a problem in diagnosing this condition making it a commonly misdiagnosed medical entity. There is current emphasis on need for clearer guidelines and much research is still being done to pave ways to determine better reference values for serum B12 and other screening tests. It is advised that screening methods are used adjunctively for the purpose of screening individuals.

e-Abstract Journal of Haematology Pakistan