BMC HematologyPub Date : 2019-10-31DOI: 10.1186/s12878-019-0144-5
Runa M. Grimholt, P. Urdal, O. Klingenberg, A. Piehler
{"title":"Correction to: Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR","authors":"Runa M. Grimholt, P. Urdal, O. Klingenberg, A. Piehler","doi":"10.1186/s12878-019-0144-5","DOIUrl":"https://doi.org/10.1186/s12878-019-0144-5","url":null,"abstract":"","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0144-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44807136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correction to: Patterns of bone marrow aspiration confirmed hematological malignancies in Eritrean National Health Laboratory.","authors":"Natnael Belai, Amon Solomon Ghebrenegus, Amin Ata Alamin, Ghirmay Embaye, Amanuel Kidane Andegiorgish","doi":"10.1186/s12878-019-0143-6","DOIUrl":"https://doi.org/10.1186/s12878-019-0143-6","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1186/s12878-019-0138-3.].</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"12"},"PeriodicalIF":0.0,"publicationDate":"2019-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0143-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37302989","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}
BMC HematologyPub Date : 2019-05-30eCollection Date: 2019-01-01DOI: 10.1186/s12878-019-0142-7
Sara Aljarad, Ahmad Alhamid, Ahmad Sankari Tarabishi, Ameen Suliman, Ziad Aljarad
{"title":"Correction to: The impact of helicobacter pylori eradication on platelet counts of adult patients with idiopathic thrombocytopenic purpura.","authors":"Sara Aljarad, Ahmad Alhamid, Ahmad Sankari Tarabishi, Ameen Suliman, Ziad Aljarad","doi":"10.1186/s12878-019-0142-7","DOIUrl":"https://doi.org/10.1186/s12878-019-0142-7","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1186/s12878-018-0119-y.].</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2019-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0142-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37299487","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":"Assessment of knowledge, attitude and practice and associated factors of blood donation among health care workers in Ethiopia: a cross-sectional study.","authors":"Dawit Malako, Fissehatsion Yoseph, Mebratu Legesse Bekele","doi":"10.1186/s12878-019-0140-9","DOIUrl":"https://doi.org/10.1186/s12878-019-0140-9","url":null,"abstract":"<p><strong>Background: </strong>Blood can only be given from generous donors. The main objective of this study was to assess the knowledge, attitude and practice (KAP) and associated factors of blood donation among health care workers in Wolaita Sodo University Teaching and Referral Hospital (WSUTRH), Wolaita Sodo, Ethiopia.</p><p><strong>Methods: </strong>An institution-based cross-sectional study was conducted among 218 WSUTRH health care workers. Socio-demographic characteristics and data related to the levels of KAP of participants were collected using a self-administered questionnaire. Bivariate and multivariate logistic regression analyses were conducted using statistical package for social sciences version 20 to assess the factors associated with the practice of blood donation with <i>p</i>-value set at < 0.05 for statistical significance.</p><p><strong>Results: </strong>Two hundred eighteen health care workers were involved in the study among which 129 (59.2%) were males and 89 (40.8%) were females. Among the study participants, 180(82.6%) had good knowledge but only 128(58.7%) were found to have a good attitude as 126(57.8%) reported that voluntary donor is the best source of blood donation. Regrettably, only 47(21.6%) of the respondents were found to practice blood donation in their lifetime. A majority (65.5%) of the participants did not donate blood as they have not been approached to do so. Knowledge and attitude levels of the participants were not found to be significantly associated with sociodemographic parameters study; but, only sex of the participants had shown statistically significant association with blood donation practice where males were more likely to donate blood than females (AOR = 2.59 (1.22-5.49)).</p><p><strong>Conclusions: </strong>The overall level of knowledge was satisfactory and the level of attitude and practice was unexpectedly low. Female respondents were found to have lesser practice towards blood donation than males. Health care workers, blood banks and the hospital are demanded to design ways to update knowledge, and build its psychological benefits and make services more accessible.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2019-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0140-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37269012","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}
BMC HematologyPub Date : 2019-05-14eCollection Date: 2019-01-01DOI: 10.1186/s12878-019-0141-8
David Muthahi Kambasu, Joseph Rujumba, Hervé Monka Lekuya, Deogratias Munube, Ezekiel Mupere
{"title":"Health-related quality of life of adolescents with sickle cell disease in sub-Saharan Africa: a cross-sectional study.","authors":"David Muthahi Kambasu, Joseph Rujumba, Hervé Monka Lekuya, Deogratias Munube, Ezekiel Mupere","doi":"10.1186/s12878-019-0141-8","DOIUrl":"https://doi.org/10.1186/s12878-019-0141-8","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is a chronic hematologic disease associated with increased morbidity and mortality. Hemoglobinopathies are the most prevalent genetic disease globally, and SCD is estimated to affect 0.7% of Ugandan. The disease may adversely impact on the quality of life of sickle cell patients. This study aimed to evaluate the health related quality of life (HRoL) of adolescents with SCD.</p><p><strong>Methods: </strong>This was a mixed-methods study of adolescents with sickle cell disease and their caretakers living in Kampala city, Uganda. All children aged 8-17 years with homozygous sickle cell disease attending the sickle cell clinic at Mulago Hospital during the study period were included in this study. Participants completed the PedsQL™ generic core scales parent-proxy and child self-report questionnaire during a routine clinic visit. HRQoL was the primary outcome measured. Socio-demographics and disease related data were obtained through personal interview with caretakers and reviewing patients' medical records. Mean scores were used for HRQoL and linear regression for associated factors.</p><p><strong>Results: </strong>Of the 140 adolescents with SCD included in the study, 40% were male. A total of 95 adolescents (68%) were between the age of 8-12 years with a mean age of 14.25 years. The physical function was assessed slightly higher by adolescents with a mean score of57.5 ± 20.3 compare to caretakers with 52.8 ± 22.1(<i>p</i> < 0.001). As assessed by caretakers, physical HRQoL scores were negatively associated with pain about-10.02 CI [- 19.22, - 0.81](<i>p</i> = 0.033), whereas it was positively associated with Pneumococcal vaccine with the score of 28.43 CI [16.78,40.09](<i>p</i> < 0.001) as assessed by adolescents and 31.37CI [22.22,40.51](p < 0.001) by caretakers. Pneumococcal vaccination impacted positively the psychosocial functioning with a score of 8.67CI [1.51,15.84] (<i>p</i> = 0.018) as assessed by children and 15.94 CI [5.50,26.38](<i>p</i> = 0.003) as assessed by the caretakers.</p><p><strong>Conclusions: </strong>This study highlighted that pain was negatively associated with both physical and psychosocial functioning; whereas getting Pneumococcal vaccine was positively associated with both physical and psychosocial functioning as reported by children and caretakers.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"9"},"PeriodicalIF":0.0,"publicationDate":"2019-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0141-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37422499","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}
BMC HematologyPub Date : 2019-05-02eCollection Date: 2019-01-01DOI: 10.1186/s12878-019-0139-2
Graeme Greenfield, Ross McMullan, Nuala Robson, Julie McGimpsey, Mark Catherwood, Mary Frances McMullin
{"title":"Response to Imatinib therapy is inferior for e13a2 <i>BCR-ABL1</i> transcript type in comparison to e14a2 transcript type in chronic myeloid leukaemia.","authors":"Graeme Greenfield, Ross McMullan, Nuala Robson, Julie McGimpsey, Mark Catherwood, Mary Frances McMullin","doi":"10.1186/s12878-019-0139-2","DOIUrl":"https://doi.org/10.1186/s12878-019-0139-2","url":null,"abstract":"<p><strong>Background: </strong>The <i>BCR-ABL1</i> fusion gene underlying the pathogenesis of CML can arise from a variety of breakpoints. The e13a2 and e14a2 transcripts formed by breakpoints occurring around exon 13 and exon 14 of the <i>BCR</i> gene respectively are the most common.</p><p><strong>Methods: </strong>We undertook a retrospective audit using local laboratory database and electronic patient care records of 69 CML patients with an e13a2 or e14a2 transcript type identified in our regional population.</p><p><strong>Results: </strong>The e13a2 group was on average significantly younger (45.0 years v 54.5 years), had a higher average white cell count (189.8 × 10<sup>9</sup>/l v 92.40 × 10<sup>9</sup>/l) and lower platelet count (308 × 10<sup>9</sup>/l v 644 × 10<sup>9</sup>/l) in comparison to the e14a2 group suggesting that these are distinct biological entities. Over an average follow-up of 33.8 months and 27.2 months for the e13a2 and e14a2 groups we observed an inferior molecular response to imatinib in the e13a2 group. A significantly lower number of patients in the e13a2 arm met European Leukemia Net criteria for optimal response at 12 months therapy (17.64% v 50.0%) and were slower to obtain deep molecular responses MR<sup>4</sup> or MR<sup>4.5</sup>.</p><p><strong>Conclusion: </strong>Patients with an e13a2 transcript demonstrate an inferior molecular response to imatinib in our regional population.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"7"},"PeriodicalIF":0.0,"publicationDate":"2019-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0139-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37403529","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}
BMC HematologyPub Date : 2019-05-02eCollection Date: 2019-01-01DOI: 10.1186/s12878-019-0138-3
Natnael Belai, Amon Solomon Ghebrenegus, Amin Ata Alamin, Anim Ata Alamin, Ghirmay Embaye, Amanuel Kidane Andegiorgish
{"title":"Patterns of bone marrow aspiration confirmed hematological malignancies in Eritrean National Health Laboratory.","authors":"Natnael Belai, Amon Solomon Ghebrenegus, Amin Ata Alamin, Anim Ata Alamin, Ghirmay Embaye, Amanuel Kidane Andegiorgish","doi":"10.1186/s12878-019-0138-3","DOIUrl":"https://doi.org/10.1186/s12878-019-0138-3","url":null,"abstract":"<p><strong>Background: </strong>Even though the incidences of hematologic malignancies have received considerable attentions globally, there is paucity of information on patterns of hematologic malignancy in Eritrea. The study was conducted to determine the distribution of various hematologic malignancies among patients who have received bone marrow examination, in the Eritrean National Health Laboratory.</p><p><strong>Methods: </strong>A retrospective descriptive study design was used to determine the patterns of Hematologic malignancies diagnosed at the Eritrean National Health Laboratory from October 2015 to July 2017.</p><p><strong>Results: </strong>Out of 207 patients who did bone marrow aspiration 52 patients were hematologic malignancy cases. The male to female ratio was 1:1. The age of the patients ranged from 2 to 80 years. Of the 52 patients 19, were less than 20 years of age and the remaining 33 were 20 years and above. Acute leukemia was the most common hematologic malignancy in the study area. It affected 18 of the cases followed by chronic myelogenous leukemia, chronic lymphocytic leukemia, myelodysplastic syndromes, multiple myeloma, and myeloprofilerative neoplasms. The presenting signs and symptoms in their decreasing frequency were generalized body weakness/fatigue, splenomegaly, fever, anemia, and lymphadenopathy. More than two-third of the patients had total leukocyte count greater than 10,000/μl.</p><p><strong>Conclusion: </strong>This study shows that hematologic malignancies are not uncommon in Eritrea.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2019-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0138-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37403530","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":"Anemia and its associated factors among school-age children living in different climatic zones of Arba Minch Zuria District, Southern Ethiopia.","authors":"Eshetu Zerihun Tariku, Getaneh Alemu Abebe, Zeleke Aschalew Melketsedik, Befikadu Tariku Gutema, Nega Degefa Megersa, Muluken Bekele Sorrie, Feleke Gebremeskel Weldehawariat, Eskeziyaw Agedew Getahun","doi":"10.1186/s12878-019-0137-4","DOIUrl":"https://doi.org/10.1186/s12878-019-0137-4","url":null,"abstract":"<p><strong>Background: </strong>Anemia, defined as a low blood hemoglobin concentration, has been shown to be a major public health concern in low-income countries like Ethiopia. School-age children are the most vulnerable population groups for anemia. The aim of this study was to assess the prevalence of anemia, with consideration of altitudinal variations, and to identify factors associated with anemia among school-age children.</p><p><strong>Methods: </strong>A community-based cross-sectional study was conducted from April to May 2017 among randomly selected 391 school-age children (6 to 14 years) in Arba Minch Health and Demographic Surveillance Site, Southern Ethiopia. Hemoglobin concentration was measured on the spot using portable hemoglobinometer (HemoCue Hb 201). The hemoglobin cut off values, adjusted for child age and altitude, were used to define anemia. Stool microscopic examination was done for investigation of intestinal parasites. A binary logistic regression model was used to assess the possible association of independent and outcome variables.</p><p><strong>Results: </strong>The overall prevalence of anemia was 37.3% (146); (95% CI: 32.5, 42.2). Among those who were anemic, 110 (28.1%) and 35 (9%) had mild (Hb 11-11.4 g/dl for children age from 6 to 11 years and 11-11.9 g/dl for children age from 12 to 14 years) and moderate (Hb 8-10.9 g/dl) anemia respectively. A single case of severe (Hb < 8 g/dl) anemia was identified. Fifty-seven (46.3%) of children living in an altitude ≥ 2500 m above sea level were anemic. Anemia was higher among children who were positive for intestinal parasitic infections (AOR = 3.30, 95% CI: 2.04, 5.35) and children not-enrolled to schools (AOR = 2.05, 95%CI: 1.26, 3.32). Anemia was less common among children who had no habit of eating vegetables in the last week prior to the survey (AOR = 0.35, 95%CI: 0.14, 0.84).</p><p><strong>Conclusions: </strong>More than one-third of school-age children were suffering from anemia. Intestinal parasitic infections and school non-enrollment were among the major factors associated with anemia among school-age children in the study area. Interventions, focusing on identified contributing factors need to be implemented by integrating with other school or community-based health programs.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2019-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0137-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37208846","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":"Seroprevalence of transfusion transmitted infections among blood donors in Gash Barka Zonal Blood Transfusion Center, Barentu, Eritrea, 2014 through 2017.","authors":"Yacob Tesfamichael Keleta, Oliver Okoth Achila, Absera Woldu Haile, Bereket Habteslasie Gebrecherkos, Danait Tareke Tesfaldet, Kibrom Solomon Teklu, Mesuda Abrhum Mohammed, Selihom Tesfaslase Ghedel","doi":"10.1186/s12878-019-0136-5","DOIUrl":"https://doi.org/10.1186/s12878-019-0136-5","url":null,"abstract":"<p><strong>Background: </strong>Transfusion-transmissible infections pose a major health risk in developing countries, including Eritrea. In the present study, we sought to determine the prevalence of specific transfusion transmitted infections (TTIs) and the associated risk factors among blood donors at a newly established regional blood transfusion center in Barentu, Eritrea.</p><p><strong>Methods: </strong>The seroprevalence of markers for specific TTIs by sex, age, educational status, residence, occupation, and donor type was evaluated for donors who donated blood between July 2014 and April 2017. The relationship between TTIs and the stated factors was evaluated using the Pearson Chi-square test/Fishers exact test. Adjusted and unadjusted binary logistic regression models were employed to estimate the odds ratio (OR) and 95% confidence interval (CI) for the occurrence of TTIs. A two-sided <i>p</i>-value < 0.05 was considered statistically significant.</p><p><strong>Result: </strong>A total of 1939 donors were included in this study. Majority of the donors were males (88.2%), urban residents (68.8%), greater than 25 years of age (67%), and family replacement blood donors (FRBD) (59.7%). Two hundred and fifty (12.9%) donors were infected by at least one TTI. The cumulative seroprevalence of Human immunodeficiency virus, Hepatitis B virus, Hepatitis C virus and syphilis were 16 (0.8%), 97 (5%), 13 (0.7%) and 140 (7.2%), respectively. Out of the total 266 infected donors, the prevalence of co-infection was 16 (0.8%). In the adjusted model, the OR and 95% CI for the seropositivity for any TTI associated with age, no formal education, elementary school educational level, and junior school educational level were 1.02 (95% CI: 1.01-1.04), 4.4 (95% CI: 2.58-7.49), 2.67 (95% CI: 1.49-4.80), and 2.00 (95% CI: 1.14-3.52), respectively. In addition, blood from FRBD had an increased likelihood of contamination with at least one TTI, with an OR (95% CI) of 1.56 (1.10-2.21).</p><p><strong>Conclusion: </strong>The prevalence of transfusion-transmissible infections is relatively high. In particular, specific groups in the population appear to be disproportionally affected. Therefore, targeted sensitization campaigns should be implemented in the future.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"5"},"PeriodicalIF":0.0,"publicationDate":"2019-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0136-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37091627","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}
BMC HematologyPub Date : 2019-02-18DOI: 10.1186/s12878-019-0135-6
Rashail Faraon, Mahmoud Daraghmah, Fekri Samarah, Mahmoud A Srour
{"title":"Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.","authors":"Rashail Faraon, Mahmoud Daraghmah, Fekri Samarah, Mahmoud A Srour","doi":"10.1186/s12878-019-0135-6","DOIUrl":"10.1186/s12878-019-0135-6","url":null,"abstract":"<p><strong>Background: </strong>We aimed to investigate the molecular basis of β-Thalassemia intermedia (TI) in the West Bank region and its management practices.</p><p><strong>Methods: </strong>This was a case series multi-center study and included 51 cases of TI. DNA sequencing was used to analyze β-globin gene mutations. Common α-globin gene mutations were screened by Gap-PCR (-α<sup>3.7</sup>, -α<sup>4.2</sup>, --<sup>MED</sup>, ααα<sup>anti3.7</sup>) or DNA sequencing (α2-IVS II 5 nt del). <i>Xmn</i>I -158 C > T polymorphisms of Gγ-globin gene was determined by RFLP-PCR.</p><p><strong>Results: </strong>Seven β-globin gene mutations were observed, namely IVS-I -6 C > T, IVS-I-110 G > A, IVS-II-1 G > A, IVS-I-1 G > A, Codon 37 Trp > Stop, beta - 101 and IVS-II-848 C > A. Ten genotypes were observed. Homozygosity for IVS-I-6 accounted for the majority of TI cases with a frequency of 74.5%. The second common β-globin gene genotype was homozygote IVS-I-110 G > A (5.8%) and homozygote IVS-II-1 G > A (5.8%). The remaining seven genotypes were each detected in about 2% of patients. α-Thalassemia mutations were seen in five patients (9.8%), and included (-α<sup>3.7</sup>, ααα<sup>anti3.7</sup> and α2-IVSII-5 nt del). <i>Xmn</i>I polymorphism was observed in four patients (7.8%), three homozygotes and one heterozygote.</p><p><strong>Conclusions: </strong>Homozygosity for the mild β-globin gene IVS-I-6 allele was the major contributing factor for the TI phenotype among the study subjects. The role of <i>Xmn</i>I SNP and α-thalassemia mutations in ameliorating the TI phenotype was observed in few patients for each factor. The beta - 101 C > T mutation was diagnosed in one patient in homozygote state for the first time in Palestine.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":"19 ","pages":"4"},"PeriodicalIF":0.0,"publicationDate":"2019-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-019-0135-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37011898","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}