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21.
Role of vitamin C as an adjuvant therapy to different iron chelators in young β‐thalassemia major patients: efficacy and safety in relation to tissue iron overload
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22.
Mahmoud Hadipour Dehshal Mehdi Tabrizi Namini Alireza Ahmadvand Mohsen Manshadi Forouzan Sadeghian Varnosfaderani Hassan Abolghasemi 《Hemoglobin》2014,38(3):179-187
β-Thalassemia major (β-TM) is an inherited disease and efforts have been made in several countries to reduce the number of affected births. In the present study, we aimed to evaluate the Iranian thalassemia prevention program, considered to be an important program in the region. The time period of the present study ranges from 2007–2009, during which new thalassemic births and the relevant causes were evaluated throughout the country. A cross-sectional analytical study was conducted at the Iranian Blood Transfusion Organization (IBTO), Tehran, Iran. A questionnaire was forwarded to all blood centers of the IBTO so as to obtain information about the new cases of thalassemia and the causes of these thalassemic births. Provincial thalassemia societies also received the questionnaires so that screening and prenatal diagnosis (PND) errors would be recorded. The results showed that 755 new thalassemia cases were born during 2007–2009 with the average fall in affected thalassemia births of 80.82%. The main cause of the new births was attributed to unregistered “timeless religious marriages” based on the conventions of the Sunni community which accounted for 43.17% of all new cases mainly having occurred in Sistan & Baluchestan Province. Not using PND was evaluated to be another main cause. Although the prevention program has led to a great reduction in thalassemic births, new measures are required, including research on how to make the program compatible with social and economic conventions and norms of Sistan & Baluchestan Province. The province of Kohgiluyeh Boyer Ahmad also needs to be revisited in terms of the program efficacy. 相似文献
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Ai Leen Ang Ploutarchos Tzoulis Emma Prescott Bernard A. Davis Maria Barnard Farrukh T. Shah 《European journal of haematology》2014,92(3):229-236
Endocrinopathies are common complications of transfusional hemosiderosis among patients with β thalassemia major (TM). Previous studies had shown associations between some endocrinopathies and iron overload of the myocardium, liver and/or endocrine organs as assessed by MRI techniques. This retrospective analysis of 92 patients with TM (median age 36 yr) from a tertiary adult thalassemia unit in UK aimed to determine independent risk factors associated with endocrinopathies among these patients. Unlike previous studies, longitudinal data on routine measurements of iron load [worst myocardial and liver T2* values since 1999, worst LIC by MRI‐R2 since 2008 and average 10‐yr serum ferritin (SF)] up to April 2010 together with demographic features and age of initiating chelation were analyzed for associations with endocrinopathies. The most common endocrinopathies in this cohort were hypogonadism (67%) and diabetes mellitus (DM) (41%), and these were independently associated with myocardial T2* <20 ms (P < 0.001 and P = 0.008, respectively) and increased age (P = 0.002 and P = 0.016, respectively). DM and hypogonadism were independently associated with average SF >1250 μg/L (P = 0.003) and >2000 μg/L (P = 0.047), respectively. DM was also associated with initial detection of abnormal myocardial T2* at an older age (30 yr vs. 24 yr, P = 0.039). An abnormal myocardial T2* may therefore portend the development of DM and hypogonadism in patients with TM. 相似文献
25.
Stamatia Theodoridou Aikaterini Teli Eleni Yfanti Timoleon-Achilleas Vyzantiadis Theodoros Theodoridis Marina Economou 《Hemoglobin》2018,42(2):129-131
Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α+-thalassemia (α+-thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (–α3.7) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed. 相似文献
26.
《Hemoglobin》2013,37(3):167-175
Sixty‐seven homozygous male and female thalassemic patients with different phenotypes, aged between 8 and 33 years, were divided into three groups, according to the severity of their β‐thalassemia (thal) mutations. We investigated whether some co‐inherited genetic factors could influence the phenotype. Patients with milder β‐thal defects, homozygotes or compound heterozygotes for the IVS‐I‐6 (T→C) or ?87 (C→G) mutations had a milder disease. In addition, determination of the co‐inheritance of the ?158 (C→T) Gγ polymorphism and the (AT)9T5 repeat motif in the region ?540 to ?525, 5′ to the β‐globin gene, showed that in some patients with severe or mild/severe β‐thal mutations, linked to haplotype III, there was higher Hb F expression. We conclude that in homozygous β‐thal patients, the severity of the mutations is the most important factor influencing the phenotype, but some polymorphisms such as the ?158 (C→T) Gγ and (AT)9T5 repeat motif, increasing the Hb F expression and ameliorate the clinical course of the disease. 相似文献
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《Hemoglobin》2012,36(4-5):254-257
AbstractTo provide the molecular information on hemoglobinopathies in the Myanmar population, the study was carried out on Myanmar workers in Khon Kaen Province in northeast Thailand. A total of 300 anonymous Myanmar factory workers were randomly recruited during their annual medical checkup. Hemoglobinopathies were identified using hemoglobin (Hb) and DNA analyses. These identified heterozygous α0-thalassemia (α0-thal) [– –SEA (Southeast Asian) deletion] (n?=?5, 1.7%), heterozygous α+-thal (n?=?103, 34.3%), homozygous α+-thal (n?=?12, 4.0%), heterozygous β-thalassemia (β-thal) (n?=?3, 1.0%), heterozygous β-thal with homozygous α+-thal (n?=?2, 0.7%), double heterozygous β-thal/α0-thal (n?=?1, 0.3%)], heterozygous Hb E (HBB: c.79G>A) with α0-thal/α+-thal (n?=?1, 0.3%), heterozygous Hb E (n?=?27, 9.0%), heterozygous Hb E with α+-thal (n?=?24, 8.0%), homozygous Hb E with α0-thal/α+-thal (n?=?1, 0.3%), homozygous Hb E (n?=?3, 1.0%) and homozygous Hb E with heterozygous α+-thal (n?=?3, 1.0%). No thalassemia defect was found in the remaining 115 subjects (38.4%). Haplotypes associated with Hb E and Hb Dhonburi (or Hb Neapolis) [β126(H4)Val→Gly, codon 126 (T>G), HBB: c.380T>G] are reported. While the proportions of α0-thal, β-thal and Hb E are comparable to those described in neighboring countries, a markedly high prevalence of α+-thal (48.6% in total) is unexpected. The molecular information obtained should provide necessary information for diagnostic improvement and planning of a prevention and control program of severe thalassemia in the Myanmar population. 相似文献