Objective To investigate the extragastric 
manifestations of Helicobacter pylori(Hp) infection. Method 74 patients who underwent 
gastroduodenoscopy and had diagnostic testing for Hp were studied.Hp infection was 
determined by gastric histopathology(Giemsa Stain) or serology.Cytotoxin associated gene 
A(Cag A) status was assessed by polymerase chain reaction test.The study parameters 
evaluated included:complete blood cells counts,liver function tests and renal function tests. 
Results Of 74 patients,52 patients(70.3%) had Hp infection and 31 patients(41.8%) were Cag 
Apositive expression.Total leukocyte count and number of neutrophil leukocytes were 
significantly higher in Hppositive group than that in Hpnegative group(6.490.3 VS 5.080.3;3.920.
2 VS 2.870.1,P0.01,respectively).AST level was higher in those with Cag Apositive Hp infection 
than that in Cag Anegative group(28.261.4 VS 19.750.9,P0.01). Conclusions We confirmed that 
Hp infection is associated with abnormalities in total leukocyte count as well as the number of 
neutrophils.In addition,Cag A seropositivity is associated with an increase in serum AST.

ExtraGastric Manifestations of Helicobacter Pylori Infection

Haemoglobinopathy diagnosis: algorithms, lessons and pitfalls.

Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β0-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah.

/pdf/molecular-basis-of-transfusion-dependent-beta-thalassemia-wkauj2abgy.pdf

Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.

Frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism in patients with homozygous/compound heterozygous beta thalassaemia.

There is an association between Helicobacter pylori infection and immune thrombocytopenia (ITP), and few studies have suggested that eradicative treatment of H. pylori infection may improve platelet counts in patients with ITP. Conventional treatments for ITP include immunosuppressive agents, and more recently thrombopoietic agents. However, based on clinical reports of association between H. pylori and ITP, several medical societies increasingly suggest detection and eradication of H. pylori as a treatment for ITP. In this article, we reappraise recent medical literature to determine the effectiveness of platelet response after treatment of H. pylori infection in patients with ITP. We searched two online databases (MEDLINE and Google Scholar) for full articles published between January 2008 and May 2018, and found a total of 11 studies that presented data and outcomes of treatment of H. pylori infection in ITP patients. All the studies administered triple therapy (amoxicillin 500 mg, clarithromycin 250 mg and a proton-pump inhibitor each given twice daily for either 7- or 14-day course) for eradication of H. pylori. Median overall platelet response ranged from 27 to 69.2% with a complete response rate ranging from 0 to 65.4% and a partial response rate ranging from 0 to 29.4%. Although there is variability in the effectiveness between different populations, it appears to be of benefit to ITP patients with concomitant H. pylori infection when treated with triple therapy. However, further studies to understand the pathogenesis of H. pylori-associated ITP is necessary for the development of new therapeutic approaches for ITP.

Management of Helicobacter pylori in Patients with Immune Thrombocytopenia.

OBJECTIVE To determine the prevalence of various mutations in beta (beta) thalassaemia and its association with haematological parameters. METHODS A descriptive cross sectional study was carried out in the Department of Haematology, Armed Forced Institute of Pathology (AFIP) from February 2009 to January 2010. A total of 515 carriers having beta thalassaemia mutations characterized by Multiplex amplification refractory mutation system (ARMS) were included in the study. Frequencies of different beta thalassaemia mutations were calculated. Mutations were analyzed for their haematological parameters which include total red blood cell count (TRBC), haemoglobin (Hb), mean cell volume (MCV), mean cell haemoglobin (MCH) and red cell distribution width (RDW). RESULTS Frame shift (Fr) 8-9 was the most common mutation found in 183 (35.5%) of patients followed by intervening sequence 1-5 (IVSI-5) in 126 (24.5%) and Fr 41-42 in 76 (14.8%) while IVSII-1 was the least common mutation found in 1 patient. Fr 8-9 was also the commonest mutation in Punjabis and Pathans. Predominant mutation in other ethnic carriers was IVSI-5. Patients with Fr 8-9 mutation had the lowest mean MCV and MCH of 63.7fl and 19.1pg, of all the mutations. Patients with CAP+1 mutation had mean TRBC, Hb, MCV, MCH and RDW of 5.5 x 1012/L, 13.5g/dl, 78.0fl, 24.7pg and 41.9fl respectively. CONCLUSION Fr 8-9 is the most common beta thalassaemia mutation with lowest red cell indices while CAP+1 mutation can present with normal red cell values therefore, a potential carrier should be screened for CAP+1 mutation by DNA analysis.

Prevalence of various mutations in beta thalassaemia and its association with haematological parameters.

Objective: To determine the association of Helicobacter pylori infection in patients presenting with idiopathic thrombocytopenic purpura (ITP). Methods: From March 2007 to March 2008, thirty adult patients with ITP and 30 age and sex matched healthy controls were investigated for the presence of H. pylori infection by Helicobacter pylori stool antigen (HpSA) an enzyme immunoassay (EIA) based method. The criteria for presence of H. pylori infection was a positive stool antigen test. Results: H. pylori infection was found in 19 out of 30 patients with ITP (63.3%) which is well above the frequency of 13 out of 30 (43.3%) in controls. Calculated odds ratio was 2.25 which shows significant association of H. pylori infection with ITP. Conclusion: The study confirms the existence of an association between H. pylori infection and ITP. Therefore the screening for H. pylori infection and an attempt to eradicate bacterium in positive cases seems appropriate in patients with ITP at diagnosis (JPMA 59:660; 2009).

/pdf/association-of-helicobacter-pylori-infection-with-idiopathic-2tzls0ango.pdf

Association of Helicobacter pylori infection with idiopathic thrombocytopenic purpura.

The most appropriateapproach towards this disorder is its prevention. Thepreventive aspect comprises of three important pillars,which include screening for thalassaemia carriers,prenatal diagnosis and genetic counselling. Geneticcounselling, if done in an appropriate manner cancontribute immensely towards prevention of thisdisorder. Critical issues like marriage options,importance of consanguinity, screening of spouse andfamily, prenatal diagnosis and termination of pregnancy,have to be explained and discussed in detail. Thesefacts make the counselling of thalassaemia carriers achallenging task, yet sharing of some positive beneficialinformation in these sessions can be helpful inconfronting these counselling issues. One such fact isthe epidemiologically confirmed protection againstfalciparum malaria in the thalassaemia carriers,

/pdf/relative-protection-from-ischaemic-heart-disease-in-beta-2pa1tse18l.pdf

Relative protection from ischaemic heart disease in beta-thalassaemia carriers.

Background: Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between Xmn I polymorphism and disease severity in patients with β-thalassemia from northern Pakistan. Methods: The cross sectional study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi, from September 2006 to June 2009. A total of 90 subjects including 30 with thalassemia major, 30 with thalassemia intermedia and 30 normal individuals were studied. DNA from each subject was tested for 15 β-thalassemia mutations and the presence of Xmn I polymorphism using Amplification Refractory Mutation System and Restriction Fragment Length Polymorphism respectively. Results: One normal and one thalassemia major subject were found to be positive for homozygous and heterozygous Xmn I polymorphism respectively. Among the thalassemia intermedia group, Xmn I polymorphism was found in 12/30 patients, of whom 10 were homozygous and 2 were heterozygous for it. Conclusion: Xmn I polymorphism is an important genotypic factor in Pakistani population for making a prospective diagnosis of thalassemia intermedia and predicting the severity of the disease. Keywords: Thalassemia intermedia, Xmn I endonuclease, Restriction Fragment Length Polymorphism, Northern Pakistan

/pdf/xmni-polymorphism-and-disease-severity-in-patients-with-beta-11v8dun1ak.pdf

XmnI POLYMORPHISM AND DISEASE SEVERITY IN PATIENTS WITH BETA THALASSEMIA FROM NORTHERN PAKISTAN

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.

Frequency of Janus associated kinase 2 (V617F) mutation in patients of polycythemia vera.

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