Iranian Journal of Blood and Cancer
Volume:4 Issue: 4, Summer 2012

Hb A2 is elevated in subjects with beta thalassemia minor but small percent of carriers have normal Hb A2 with elevated levels of HbF (2-10%). This type of thalassemia is called delta beta thalassemia, and can be missed in pre-marriage hematologic consults or screening which leads to increased risk of child birth with beta thalassemia major. In this prospective descriptive study, 17768 subjects participated from January 2007 to January 2008. Complete blood count was checked for subjects. If MCV was below 80 fl or MCH was below 27pg, HbA2 was checked with column chromatography. If HbA2 was higher than 3.4 %, subject was labelled as beta thalassemia minor. If HbA2 was normal, 45 days of iron therapy were started for patients whom serum iron, serum ferritin and total iron-binding capacity were in favour of iron deficiency anemia. CBC was rechecked after iron therapy and if MCV or MCH still was below normal range, HbF was checked using alkaline denaturation method as well as Hb electrophoresis. Patients with HbF in the range of 2-10% were diagnosed as delta beta thalassemia minor. 17768 subjects were recruited in this study and 1326 subjects (7.4%) were diagnosed as beta thalassemia minor. 1133 of 1326 thalassemia minor subjects (85.4%) had MCV below 70 fl and 193 subjects (14.6%) had MCV between 70 fl and 80 fl. Three subjects from 17768 (0.01%) had normal HbA2 with HbF between 2% and 10% (delta beta thalassemia). It is very important to use Hb electrophoresis and check HbF by alkaline denaturation method for all people coming for pre-marriage hematologic consultation to detect delta beta thalassemia or other hemoglobinopathies.

Cardiac dysfunction due to chronic anemia and hemosiderosis are the major causes of death among patients with thalassemia intermedia. This study was performed to compare the cardiac function in thalassemia intermedia patients with normal subjects by means of echocardiography. This was a case-control study performed on 22 patients affected by thalassemia intermedia in the age range of 8 to 25 years treated in pediatric ward of Ali Ibn-e Abi Talib teaching hospital, Zahedan,, South East of Iran, from January 2007 until July 2008. There was no sign of cardiac involvement by physical examination, chest x-ray and ECG in these patients. The control group was selected from normal individuals and was matched by sex and age (66 healthy individuals). Echocardiographic parameters were measured in patient and control groups. Findings of this study showed that the mean age of patients was years and the mean age of the control group was years (p=0.6). The mean left ventricular myocardial performance index (p=0.001), left ventricular mass index (p=0.0001) interventricular septal dimension in diastole (p=0.002), left ventricular posterior wall thickness in diastole (p=0.001), interventricular septal dimension in systole (p=0.01), left ventricular posterior wall dimension in systole (p=0.003), aortic pre-ejection period/ejection time (p=0.009), ejection fraction (p=0.019), fractional shortening (p=0.04), left ventricular isovolumetric contraction time (p=0.0001), left ventricular isovolumetric relaxation time (p=0.0001), right ventricular myocardial performance index (p=0.0001), and isovolumetric relaxation time (p=0.0001) were statistically significantly different between patients and controls. Other echocardiographic parameters did not show a statistically significant difference between patients and controls. The results of the present study show that cardiac systolic and diastolic function in patients with thalassemia intermedia is compromised in comparison with the control group.

Factor VIII administration to hemophilia A patients results in an immune response (inhibitor formation) which significantly complicates the therapy. The present study was performed to determine the prevalence of inhibitor development in hemophilia A patients receiving recombinant factor VIII therapy. This was an observational descriptive study. Clotting factor inhibitor screening was performed by activated partial thromboplastin time mixing studies using normal pool plasma collected from twenty healthy donors. Bethesda assay for quantitation of factor VIII inhibitors was performed on samples which were positive with screening tests. Out of 229 patients with hemophilia A enrolled in the hemophilia society of Pakistan, Lahore center, 50 patients were selected. The mean factor VIII level in these patients was 2.46 +3.14. Out of 50 patients, 29 (58%) had severe hemophilia A (factor VIII level <1%), 17 (34%) had moderate hemophilia A (factor VIII level 1-5%) and 4 (12%) had mild hemophilia A (factor VIII level >5-30%). In this study, 12 patients (24%) were positive for inhibitors. Most of them 9 (75%) were low responders (<5 Bethesda units) with a mean Bethesda units of 1.82+0.473, while 3 (25%) patients were high responders (>5 Bethesda units) with a mean BU of 11.33+5.85. Patients were divided into two groups on the basis of the number of factor VIII concentrate therapies of <50 (group 1) times and >50 times (group 2). Inhibitor positivity was high (34.5%) in group I, as compared to group II (9.5%). Bleeding episodes were also more common in inhibitors positive patients. In this study, the inhibitor development in patients with hemophilia A receiving recombinant factor VIII concentrates therapy was 24% and the first fifty therapies were crucial for inhibitor development.

Recent studies have provided evidence that common genetic variations could account for a proportion of leukemia in adult or children. To evaluate the contribution of candidate gene association studies to the understanding of genetic susceptibility to acute lymphoblastic leukemia we conducted a systematic review from published studies. The polymorphisms of genes encoding carcinogen-metabolizing enzymes (CYP family, NQO1, GST), enzymes involved in folate metabolism (MTHFR, MTRR, SHMT, TS), and DNA repair enzymes (RAD51, XRCC1, ERCC2), chromosome translocation and epigenetic events discussed in this review, can be introduced as candidate alterations in acute lymphoblastic leukemia.

Non-Hodgkin lymphoma is very uncommon in infancy and skin as the primary site of involvement in Non-Hodgkin lymphoma is rarely encountered. We describe a 10-month-old infant with T-cell Non-Hodgkin lymphoma who presented with multiple skin nodules as the predominant feature of her disease. The clinical manifestations, treatment strategy and disease outcome are reviewed.