BMC blood disorders最新文献

{"title":"Foetal haemoglobin and disease severity in sickle cell anaemia patients in Kampala, Uganda.","authors":"Lena Mpalampa, Christopher M Ndugwa, Henry Ddungu, Richard Idro","doi":"10.1186/1471-2326-12-11","DOIUrl":"10.1186/1471-2326-12-11","url":null,"abstract":"<p><strong>Unlabelled: </strong></p><p><strong>Background: </strong>Sickle cell anaemia (SCA) is a major chronic health problem in Uganda. In patients with SCA, the level of foetal haemoglobin (HbF) has been found to be important in influencing the clinical course of the disease. Thus populations with high levels of HbF like those in Saudi Arabia have been described as having a milder clinical course with fewer complications as compared to populations with lower levels. Disease modifying drugs can increase the Hb F levels and modify the presentation of SCA.</p><p><strong>Methods: </strong>This was a cross sectional study in which we determined foetal haemoglobin levels and examined the relationship between HbF levels and disease severity in SCA patients in Mulago Hospital, Kampala, Uganda. We consecutively enrolled 216 children aged 1 year to 18 years with SCA attending the Sickle Cell Clinic at Mulago Hospital whose guardians had given consent. The history included age at onset of initial symptoms and diagnosis, number of hospitalisations and blood transfusions and other complications of SCA (cardiovascular accidents, avascular hip necrosis and priapism). A detailed physical examination was performed to assess the current state and help describe the disease severity for each patient. Blood samples were drawn for HbF levels. HbF levels ≥10% was defined as high.</p><p><strong>Results: </strong>Of the 216 children, (80) 37% had HbF levels ≥10%. Significant correlations were observed between HbF level and several clinical parameters independent of age including age at diagnosis (p value 0.013), number of hospitalisations (p value 0.024) and transfusions (p value 0.018) since birth.</p><p><strong>Conclusion: </strong>A third of the children with SCA attending the Sickle cell clinic in Mulago Hospital have high HbF levels. Higher HbF level is associated with later onset of symptoms and presentation, and less severe disease characterised by fewer hospitalisations and blood transfusions. We suggest HbF levels should be determined at initial contact for patients with SCA to guide counselling and identify those who may need closer follow up and consideration for disease modifying drugs.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2012-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30889384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estimating the treatment effect from non-randomized studies: The example of reduced intensity conditioning allogeneic stem cell transplantation in hematological diseases.","authors":"Matthieu Resche-Rigon,&nbsp;Romain Pirracchio,&nbsp;Marie Robin,&nbsp;Regis Peffault De Latour,&nbsp;David Sibon,&nbsp;Lionel Ades,&nbsp;Patricia Ribaud,&nbsp;Jean-Paul Fermand,&nbsp;Catherine Thieblemont,&nbsp;Gérard Socié,&nbsp;Sylvie Chevret","doi":"10.1186/1471-2326-12-10","DOIUrl":"https://doi.org/10.1186/1471-2326-12-10","url":null,"abstract":"<p><strong>Unlabelled: </strong></p><p><strong>Background: </strong>In some clinical situations, for which RCT are rare or impossible, the majority of the evidence comes from observational studies, but standard estimations could be biased because they ignore covariates that confound treatment decisions and outcomes.</p><p><strong>Methods: </strong>Three observational studies were conducted to assess the benefit of Allo-SCT in hematological malignancies of multiple myeloma, follicular lymphoma and Hodgkin's disease. Two statistical analyses were performed: the propensity score (PS) matching approach and the inverse probability weighting (IPW) approach.</p><p><strong>Results: </strong>Based on PS-matched samples, a survival benefit in MM patients treated by Allo-SCT, as compared to similar non-allo treated patients, was observed with an HR of death at 0.35 (95%CI: 0.14-0.88). Similar results were observed in HD, 0.23 (0.07-0.80) but not in FL, 1.28 (0.43-3.77). Estimated benefits of Allo-SCT for the original population using IPW were erased in HR for death at 0.72 (0.37-1.39) for MM patients, 0.60 (0.19-1.89) for HD patients, and 2.02 (0.88-4.66) for FL patients.</p><p><strong>Conclusion: </strong>Differences in estimated benefits rely on whether the underlying population to which they apply is an ideal randomized experimental population (PS) or the original population (IPW). These useful methods should be employed when assessing the effects of innovative treatment in non-randomized experiments.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2012-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-10","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30838940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated central nervous system relapse of chronic myeloid leukemia after allogeneic hematopoietic stem cell transplantation.","authors":"Mary Fuchs,&nbsp;Mike Reinhöfer,&nbsp;Andreas Ragoschke-Schumm,&nbsp;Herbert G Sayer,&nbsp;Klas Böer,&nbsp;Otto W Witte,&nbsp;Andreas Hochhaus,&nbsp;Hubertus Axer","doi":"10.1186/1471-2326-12-9","DOIUrl":"https://doi.org/10.1186/1471-2326-12-9","url":null,"abstract":"<p><strong>Background: </strong>This case report highlights the relevance of quantifying the BCR-ABL gene in cerebrospinal fluid of patients with suspected relapse of chronic myeloid leukemia in the central nervous system.</p><p><strong>Case presentation: </strong>We report on a female patient with isolated central nervous system relapse of chronic myeloid leukemia (CML) during peripheral remission after allogeneic hematopoietic stem cell transplantation. The patient showed a progressive cognitive decline as the main symptom. MRI revealed a hydrocephalus and an increase in cell count in the cerebrospinal fluid (CSF) with around 50% immature blasts in the differential count. A highly elevated BCR-ABL/ ABL ratio was detected in the CSF, whilst the ratio for peripheral blood and bone marrow was not altered. On treatment of the malresorptive hydrocephalus with shunt surgery, the patient showed an initial cognitive improvement, followed by a secondary deterioration. At this time, the cranial MRI showed leukemic infiltration of lateral ventricles walls. Hence, intrathecal administration of cytarabine, methotrexate, and dexamethasone was initiated, which caused a significant decrease of cells in the CSF. Soon after, the patient demonstrated significant cognitive improvement with a good participation in daily activities. At a later time point, after the patient had lost the major molecular response of CML, therapy with dasatinib was initiated. In a further follow-up, the patient was neurologically and hematologically stable.</p><p><strong>Conclusions: </strong>In patients with treated CML, the rare case of an isolated CNS blast crisis has to be taken into account if neurological symptoms evolve. The analysis of BCR-ABL in the CSF is a further option for the reliable detection of primary isolated relapse of CML in these patients.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"9"},"PeriodicalIF":0.0,"publicationDate":"2012-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30816547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Syncytial giant cell hepatitis associated with chronic lymphocytic leukemia: a case report.","authors":"Eva Gupta,&nbsp;Michael Yacoub,&nbsp;Martha Higgins,&nbsp;Ayad M Al-Katib","doi":"10.1186/1471-2326-12-8","DOIUrl":"https://doi.org/10.1186/1471-2326-12-8","url":null,"abstract":"<p><strong>Unlabelled: </strong></p><p><strong>Background: </strong>Syncytial giant cell hepatitis (GCH) is an uncommon and an underreported disease entity. In two previously reported cases of GCH in patients with Chronic Lymphocytic Leukemia (CLL) liver failure ensued. Autoimmune and infective causes have been implicated but its etiology remains unclear.</p><p><strong>Case presentation: </strong>A 60-year-old female with CLL presented with acute hepatitis with negative viral and auto-immune serologies and without any prior toxic exposure. Liver biopsy showed typical histological features of GCH. The patient was successfully treated with corticosteroids and intravenous immunoglobulin (IVIG). Her liver enzymes returned to baseline and have remained normal as of the last follow up almost 4 years later.</p><p><strong>Conclusions: </strong>Association of GCH with CLL may be under recognized. Clinical suspicion of GCH in CLL patients with serology-negative hepatitis, early liver biopsy and therapeutic intervention may influence outcome. This is the first case report of successful treatment of GCH in CLL patients. Moreover, our case also demonstrates the ability to resume effective CLL therapy post-GCH diagnosis without detriment to the liver.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2012-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30774549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and type of monoclonal gammopathy of undetermined significance in an apparently healthy Nigerian population: a cross sectional study.","authors":"A Lawretta Onwah,&nbsp;Titilope A Adeyemo,&nbsp;Adewumi Adediran,&nbsp;Sarah O Ajibola,&nbsp;Alani S Akanmu","doi":"10.1186/1471-2326-12-7","DOIUrl":"https://doi.org/10.1186/1471-2326-12-7","url":null,"abstract":"<p><strong>Unlabelled: </strong></p><p><strong>Background: </strong>The prevalence of monoclonal gammopathy of undetermined significance (MGUS), a premalignant plasma-cell disorder has not been determined in our geographic area Nigeria.</p><p><strong>Methods: </strong>A cross sectional survey was carried on apparently healthy Nigerians selected by multistage sampling technique from the cosmopolitan city of Lagos, Nigeria. Subjects enrolled into the study had 2-step screening for the presence, type and concentration of monoclonal band. Agarose-gel electrophoresis was performed on all serum samples, and any serum sample with a discrete band of monoclonal protein or thought to have a localized band was subjected to Immunofixation. Subjects were also evaluated for Bence jones proteinuria, haematological and biochemical parameters.</p><p><strong>Results: </strong>Four hundred and ten subjects with a mean age of 45.68 ± 10.3 years, a median of 45.00 years and a range of 20 to 80 years were enrolled into the study. MGUS was identified in only one (0.24 percent) of the 410 study subject. This subject was demonstrated to have a double monoclonal gammopathy; IgGλ at 16.9 g/L and IgAκ at 8.5 g/L. None of them including the sole subject with MGUS had a monoclonal urinary light chain.</p><p><strong>Conclusion: </strong>Among residents of Lagos, Nigeria, MGUS was found in only 0.24% percent of apparently normal persons with a median age of 45 years. This suggests that MGUS which represents the earliest stage of monoclonal plasma/lymphoid cell proliferation is not a common finding in the relatively young population of Nigeria. Future epidemiologic studies dealing with plasma cell disorders in older people are required to carefully examine the relationship between environmental factors and prevalence of MGUS and its ultimate progression to MM.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"7"},"PeriodicalIF":0.0,"publicationDate":"2012-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30725034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health related quality of life in Middle Eastern children with beta-thalassemia.","authors":"Giovanni Caocci,&nbsp;Fabio Efficace,&nbsp;Francesca Ciotti,&nbsp;Maria Grazia Roncarolo,&nbsp;Adriana Vacca,&nbsp;Eugenia Piras,&nbsp;Roberto Littera,&nbsp;Raji Suleiman Dawood Markous,&nbsp;Gary Stephen Collins,&nbsp;Fabio Ciceri,&nbsp;Franco Mandelli,&nbsp;Sarah Marktel,&nbsp;Giorgio La Nasa","doi":"10.1186/1471-2326-12-6","DOIUrl":"https://doi.org/10.1186/1471-2326-12-6","url":null,"abstract":"<p><strong>Unlabelled: </strong></p><p><strong>Background: </strong>Thalassemia is a common disorder worldwide with a predominant incidence in Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. Whilst substantial progress has been made towards the improvement of Health related quality of life (HRQoL) in western countries, scarce evidence-based data exists on HRQol of thalassemia children and adolescents living in developing countries.</p><p><strong>Methods: </strong>We studied 60 thalassemia children from Middle Eastern countries with a median age of 10 years (range 5 to 17 years). HRQoL was assessed with the Pediatric Quality of Life Inventory (PedsQL) 4.0. The Questionnaire was completed at baseline by all patients and their parents. The agreement between child-self and parent-proxy HRQoL reports and the relationship between HRQoL profiles and socio-demographic and clinical factors were investigated.</p><p><strong>Results: </strong>The scores of parents were generally lower than those of their children for Emotional Functioning (mean 75 vs 85; p = 0.002), Psychosocial Health Summary (mean 70.3 vs 79.1; p = 0.015) and the Total Summary Score (mean 74.3 vs 77.7 p = 0.047). HRQoL was not associated with ferritin levels, hepatomegaly or frequency of transfusions or iron chelation therapy. Multivariate analysis showed that a delayed start of iron chelation had a negative impact on total PedsQL scores of both children (p = 0.046) and their parents (p = 0.007).</p><p><strong>Conclusions: </strong>The PedsQL 4.0 is a useful tool for the measurement of HRQoL in pediatric thalassemia patients. This study shows that delayed start of iron chelation has a negative impact on children's HRQoL.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2012-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30712623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Zinc finger nucleases for targeted mutagenesis and repair of the sickle-cell disease mutation: An in-silico study.","authors":"Misaki Wayengera","doi":"10.1186/1471-2326-12-5","DOIUrl":"https://doi.org/10.1186/1471-2326-12-5","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (or simply, SCD) is an inherited hemoglobinopathy which is mostly prevalent among persons of African descent. SCD results from a monogenic (Hemoglobin, beta) point-mutation (substitution of the base Adenine with Thymine at position six) that leads to replacement of the amino acid glutamic acid (E) with valine (V). Management of SCD within resource-poor settings is largely syndromic, since the option of cure offered by bone-marrow transplantation (BMT) is risky and unaffordable by most affected individuals. Despite previous reports of repair and inhibition of the sickle beta-globin gene and messenger ribonucleic acids (mRNAs), respectively in erythrocyte precursor cells via gene-targeting using an oligomer-restriction enzyme construct and either ribozyme- or RNA-DNA chimeric oligonucleotides (or simply third strand binding), gene-therapy to treat SCD still remains largely preclinical. In the wake of the advances in target- gene- mutagenesis and repair wrought by zinc finger nuclease (ZFN) technology, it was hypothesized that SCD may be cured by the same. The goal of this study thus, was constructing a database of zinc finger arrays (ZFAs) and engineering ZFNs, that respectively bind and cleave within or around specific sequences in the sickle hemoglobin, beta (-βS) gene.</p><p><strong>Methods and results: </strong>First, using the complete 1606 genomic DNA base pair (bp) sequences of the normal hemoglobin-beta (βA) chain gene, and the ZiFiT-CoDA-ZFA software preset at default, 57 three-finger arrays (ZFAs) that specifically bind 9 base-pair sequences within the normal hemoglobin-beta chain, were computationally assembled. Second, by serial linkage of these ZFAs to the Flavobacterium okeanokoites endonuclease Fok I- four ZFNs with unique specificity to >24 bp target-sequences at the genomic contextual positions 82, 1333, 1334, and 1413 of the βA chain-gene were constructed in-silico. Third, localizing the point-mutation of SCD at genomic contextual position -69-70-71- bp (a position corresponding to the 6th codon) of the βA chain-gene, inspired the final design of five more ZFNs specific to >24 bp target-sequences within the 8,954 bp that are genomically adjacent to the 5' end of the βA chain-gene.</p><p><strong>Conclusions: </strong>This set of 57 ZFAs and 9 ZFNs offers us gene-therapeutic precursors for the targeted mutagenesis and repair of the SCD mutation or genotype.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"5"},"PeriodicalIF":0.0,"publicationDate":"2012-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30614891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq.","authors":"Bassam Ms Al-Musawi,&nbsp;Nasir Al-Allawi,&nbsp;Ban A Abdul-Majeed,&nbsp;Adil A Eissa,&nbsp;Jaladet Ms Jubrael,&nbsp;Hanan Hamamy","doi":"10.1186/1471-2326-12-4","DOIUrl":"https://doi.org/10.1186/1471-2326-12-4","url":null,"abstract":"<p><strong>Background: </strong>Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent.</p><p><strong>Methods: </strong>A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation.</p><p><strong>Results: </strong>G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%).</p><p><strong>Conclusions: </strong>Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"4"},"PeriodicalIF":0.0,"publicationDate":"2012-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30532613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemoglobin E syndromes in Pakistani population.","authors":"Bushra Moiz,&nbsp;Mashhooda Rasool Hashmi,&nbsp;Amna Nasir,&nbsp;Anila Rashid,&nbsp;Tariq Moatter","doi":"10.1186/1471-2326-12-3","DOIUrl":"https://doi.org/10.1186/1471-2326-12-3","url":null,"abstract":"<p><strong>Background: </strong>Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E disorders based on hematological parameters and chromatography. The sub-aim was to characterize hemoglobin E at molecular level.</p><p><strong>Methods: </strong>This was a hospital based study conducted prospectively for a period of one year extending from January 1 to December 31, 2008. EDTA blood samples were analyzed for completed blood counts and hemoglobin variants through automated hematology analyzer and Bio-Rad beta thalassaemia short program respectively. Six samples were randomly selected to characterize HbE at molecular level through RFLP-PCR utilizing MnlI restriction enzyme.</p><p><strong>Results: </strong>During the study period, 11403 chromatograms were analyzed and Hb E was detected in 41 (or 0.36%) samples. Different hemoglobin E syndromes identified were HbEA (n = 20 or 49%), HbE/β-thalassemia (n = 14 or 34%), HbEE (n = 6 or 15%) and HbE/HbS (n = 1 or 2%). Compound heterozygosity for HbE and beta thalassaemia was found to be the most severely affected phenotype. RFLP-PCR utilizing MnlI successfully characterized HbE at molecular level in six randomly selected samples.</p><p><strong>Conclusions: </strong>Various HbE phenotypes are prevalent in Pakistan with HbEA and HbE/β thalassaemia representing the most common syndromes. Chromatography cannot only successfully identify hemoglobin E but also assist in further characterization into its phenotype including compound heterozygosity. Definitive diagnosis of HbE can easily be achieved through RFLP-PCR.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"3"},"PeriodicalIF":0.0,"publicationDate":"2012-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30523521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-reported treatment burden of chronic immune thrombocytopenia therapies.","authors":"T Michelle Brown,&nbsp;Ruslan V Horblyuk,&nbsp;Kelly M Grotzinger,&nbsp;Axel C Matzdorff,&nbsp;Chris L Pashos","doi":"10.1186/1471-2326-12-2","DOIUrl":"https://doi.org/10.1186/1471-2326-12-2","url":null,"abstract":"<p><strong>Background: </strong>Chronic immune thrombocytopenia (ITP) is a debilitating autoimmune disorder that causes a reduction in blood platelets and increased risk of bleeding. ITP is currently managed with various pharmacologic therapies and splenectomy.This study was conducted to assess patient perceived and reported treatment side effects, as well as the perceived burden or bother, and need to reduce or stop treatment, associated with these side effects among adult patients with chronic ITP.</p><p><strong>Methods: </strong>A Web-enabled survey was administered to members of a US-based ITP patient support group. Patients reported demographic and clinical characteristics, ITP treatments' side effects for treatments received since diagnosed, level of bother (or distress), and need to reduce or stop treatment, associated with side effects. Current and past exposure was assessed for five specific treatment types: corticosteroids (CS), intravenous immunoglobulin (IVIg), anti-D immunoglobulin (anti-D), rituximab (RT), and splenectomy (SPL), as well as for other patient-referenced therapies (captured as \"other\").</p><p><strong>Results: </strong>The survey was completed by 589 patients; 78% female, 89% white, mean age 48 years (SD = 14.71), and 68% reported a typical low platelet count of < 50,000/μL. Current or past treatment with CS was reported by 92% (n = 542) of patients, 56% (n = 322) for IVIg, 36% (n = 209) for anti-D, 36% (n = 213) for RT, and 39% (n = 227) for SPL. A substantial proportion of CS-treated patients reported side effects (98%, P < 0.05), were highly bothered by their side effects (53.1%, P < 0.05), and reported the need to stop or reduce treatment due to side effects (37.8%, P < 0.05). Among patients reporting side effects of treatment, significant associations were noted for the number of side effects, aggregate bother of reported side effects, and the need to stop or reduce treatment (all P < 0.05).</p><p><strong>Conclusions: </strong>Current ITP treatments, particularly corticosteroids, are associated with multiple bothersome side effects that may lead to patients stopping or reducing therapy. Open, informed and complete communication between clinician and patient regarding both the benefits and the side effects of ITP treatment may better prepare patients for their prescribed regimens.</p>","PeriodicalId":80681,"journal":{"name":"BMC blood disorders","volume":"12 ","pages":"2"},"PeriodicalIF":0.0,"publicationDate":"2012-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1471-2326-12-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30518950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}