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Azam Azimi, Reza Alibakhshi, Hasibeh Hayati, Soosan Tahmasebi, Sasan Alimoradi
Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the β-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c.316-202del)] and describe its clinical implications. Two other members of this family, all with hematological and clinical features associated with β-thalassemia (β-thal), also carried this mutation. The molecular diagnosis of the β-globin gene mutation was performed by direct sequencing...
May 5, 2017: Hemoglobin
Sheng He, Qian Qin, Li Lin, Qiuli Chen, Shang Yi, Honhwei Wei, Juan Du, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α(Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α(0)-thalassemia (α(0)-thal) and in combination with β(0)-thalassemia (β(0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies...
May 5, 2017: Hemoglobin
Fan Jiang, Lv-Yin Huang, Gui-Lan Chen, Jian-Ying Zhou, Xing-Mei Xie, Dong-Zhi Li
We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele has the phenotype of classical β-thalassemia (β-thal) minor.
May 1, 2017: Hemoglobin
Soheir Adam, Hanan Afifi, Manal Thomas, Phoebe Magdy, Ghada El-Kamah
Thalassemia is a disorder of hemoglobin (Hb) synthesis characterized by chronic hemolysis. In β-thalassemias major (β-TM), patients require regular transfusion at an early age due to severe anemia. Subsequently, intensive chelation therapy is initiated to mitigate the effects of the resultant iron overload. Clinical disease burden and the demanding treatment can affect health-related quality of life (HRQoL) outcomes in this population. The aim of this study was to assess HRQoL outcomes in Egyptian pediatric thalassemia patients...
April 25, 2017: Hemoglobin
Prapapun Leckngam, Ektong Limweeraprajak, Tiemjan Kiewkarnkha, Thanusak Tatu
Identifying double heterozygosities in Hb E (HBB: c.79 G>A)/- -(SEA) (Southeast Asian) (α-thalassemia-1) (α-thal-1) in patients first diagnosed as carrying Hb E is important in thalassemia control. Low Hb E, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) levels have been observed in this double heterozygosity. However, the cutoff points of these parameters have never been systematically established. Here, we analyzed Hb E and red blood cell (RBC) parameters in 372 Hb E patients grouped by Hb levels, by the status of - -(SEA) and -α(3...
April 16, 2017: Hemoglobin
Biyan Chen, Li Lin, Shang Yi, Qiuli Chen, Hongwei Wei, Guojian Li, Chenguang Zheng, Sheng He, XiaoXia Qiu
We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α(+)-thalassemia (α(+)-thal) patient.
April 11, 2017: Hemoglobin
Allan Pernudy-Ubau, Jaslyn Salinas-Molina, Yaneris Requenez, Marianela Ortiz-Lopez, Ann-Christin Puller, Kenia García-Rosales, Anaishelle Rodríguez-Estrada, Walter Rodríguez-Romero, Gerardo Mejía-Baltodano, Hong-Yuan Luo, David H K Chui
Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the β-globin gene results in the substitution of asparagine by lysine. Here, we document the identification of HBB: c...
April 11, 2017: Hemoglobin
Masoumeh Jalilian, Farid Azizi Jalilian, Leila Ahmadi, Razieh Amini, Hossein Esfehani, Maryam Sosanian, Bahareh Rabbani, Majid Maleki, Nejat Mahdieh
β-Thalassemia (β-thal) caused by mutations on the HBB gene is the most common single-gene disorder in the world. In this study, the HBB gene mutation was investigated in Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted to the study. DNA samples were extracted from peripheral blood. The HBB gene was sequenced in all recruited patients. Eleven mutations and eight polymorphisms were found in the studied patients. IVS-II-1 (G>A) (HBB: c.315+1 G>A) was the most common mutation, accounting for 25...
April 10, 2017: Hemoglobin
Maria Pia Cappabianca, Alessia Colosimo, Annalaura Sabatucci, Enrico Dainese, Paola Di Biagio, Roberta Piscitelli, Ofelia Sarra, Daniela Zei, Antonio Amato
We report a clinical update of the hemoglobin (Hb) variant [β27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c.17_18delCT) frameshift mutation and of the ααα (anti 3.7) triplication. Her initial moderate β-thalassemia intermedia (β-TI) phenotype worsened with time, causing the patient to become a transfusion-dependent subject at the age of ∼40 years. Subsequent molecular characterization of both parents revealed that the Hb Siirt variant was inherited by the mother, while the other two globin alterations (HBB: c...
April 10, 2017: Hemoglobin
Hajar Eftekhari, Ahmad Tamaddoni, Hassan Mahmoudi Nesheli, Mohsen Vakili, Sadegh Sedaghat, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing...
April 7, 2017: Hemoglobin
Maria P Yavropoulou, Maria Pikilidou, Despoina Pantelidou, Dimitrios G Tsalikakis, Athanasios Mousiolis, Panagiota Chalkia, John G Yovos, Pantelis Zebekakis
Diabetes mellitus has been described in chronic hemolytic anemias, but data are scarce regarding glucose metabolism in normoglycemic patients. To address this issue, we evaluated insulin sensitivity and secretion in patients with sickle cell disease (SCD) and normal oral glucose tolerance test (OGTT). Forty-five adult patients with homozygous sickle cell disease and Hb S/β-thalassemia (β-thal) (mean age 42.5 ± 9.5 years) and 45 healthy individuals matched for age and body mass index (BMI) were included in the study...
April 3, 2017: Hemoglobin
Gisele C S Carrocini, Larissa P R Venancio, Viviani L R Pessoa, Clarisse L C Lobo, Claudia R Bonini-Domingos
β-Thalassemia (β-thal) is a hemolytic anemia that is caused by point mutations in most cases. The Brazilian population is highly heterogeneous and knowledge of the mutations that make up the genotypic profile of individuals can contribute information about the formation of the population and clinical condition of patients. In this study, we evaluated the mutations present in homozygous β-thal patients from Rio de Janeiro, Brazil. We analyzed 24 samples of peripheral blood of patients with homozygous β-thal...
April 3, 2017: Hemoglobin
Yan Li, Jin-Mei Yan, Jian-Ying Zhou, Yue-Cheng Lu, Dong-Zhi Li
We first report a novel β chain variant, Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G], in a Chinese family. Heterozygous inheritance of the mutation results in a mild β-thalassemia (β-thal) phenotype, whereas compound heterozygosity of Hb Heze with β(0)-thal appears as the cause of β-thal intermedia (β-TI) in our case.
April 3, 2017: Hemoglobin
Li Lin, Biyan Chen, Shang Yi, Qiuli Chen, Hongwei Wei, Guojian Li, Chenguang Zheng, Xiao-Xia Qiu, Sheng He
We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α(+)-thalassemia (α(+)-thal) deletion [-α(3.7) (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α(0)-thal deletion (--(SEA)) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation...
April 2, 2017: Hemoglobin
Saw Thu Wah, Yoon Shwe Yi, Aye Aye Khin, Chotiros Plabplueng, Pornlada Nuchnoi
The prevalence of anemia is high in the population of Myanmar and hypochromic microcytic anemia (HMA) is predominant. The objective of our study was to determine the prevalence of anemia and causes of HMA among school children. A cross-sectional study was conducted on 239 children from Thanlyin and Insein Townships, Yangon Region, Myanmar. Complete blood count (CBC) and blood film morphology was examined on venous blood samples. Hypochromic microcytic anemia cases were subsequently analyzed for serum ferritin and cellulose acetate hemoglobin (Hb) electrophoresis...
April 2, 2017: Hemoglobin
Saskia Brunner-Agten, Thomas von Känel, Benno Röthlisberger, Charles Broquet, Andreas R Huber
We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c...
January 2017: Hemoglobin
George Ou, Hin Hin Ko, Pari Tiwari, Navdeep Sandhu, Cherry Galorport, Terry Lee, Hatoon Ezzat
Transfusion-dependent hereditary anemias such as β-thalassemia (β-thal), predispose patients to iron overload and its numerous clinical sequelae. Accurate assessment of overall iron status and prompt initiation of chelation therapy to prevent irreversible end-organ damage can be achieved using magnetic resonance imaging (MRI) to measure liver iron concentration (LIC) as a surrogate marker of total body iron; however, its access may be associated with long wait times and delay in treatment. We report an observational cohort study at a single tertiary care center assessing the theoretical role of transient elastography (TE), which measures liver stiffness, in estimating LIC compared to other established diagnostic measures...
January 2017: Hemoglobin
Maria Mainou, Aggeliki Kotsiafti, Philippos Klonizakis, Vasiliki Soulountsi, Chrysoula Apostolou, Kiriakos Psarras, Efthymia Vlachaki
A 29-year-old male with transfusion-dependent β-thalassemia major (β-TM), splenectomized and on chelation therapy with deferiprone (DFP or L1) due to heart and liver hemosiderosis, presented with high fever and agranulocytosis. Deferiprone was discontinued and a broad spectrum antibiotic therapy was started intravenously. The patient remained febrile and showed no recovery of neutrophil count even after the initiation of granulocyte colony-stimulation factor (G-CSF). After 12 days at the hospital, he developed respiratory failure and was transferred to the intensive care unit (ICU) where he developed multi-organ failure and died 3 days later...
November 2016: Hemoglobin
Paolo Gorello, Francesco Arcioni, Antonietta Palmieri, Ylenia Barbanera, Laura Ceccuzzi, Cecilia Adami, Mauro Marchesi, Antonella Angius, Olivia Minelli, Marina Onorato, Antonio Piga, Maurizio Caniglia, Cristina Mecucci, Antonella Roetto
The aim of this study was to describe the mutational spectrum of hemoglobinopathies during the period 1988-2015 in Umbria, Central Italy, which has never been considered endemic for these conditions. Twenty-four different β-globin gene mutations were identified in 188 patients and eight different α-globin gene mutations in 74 patients. Sixty percent β-thalassemia (β-thal), 85.0% sickle cell disease, 44.0% Hb S (HBB: c.20A>T)/β-thal and 85.0% compound heterozygotes for hemoglobin (Hb) variant-carrying patients were diagnosed or molecularly characterized in the last 3 years...
November 2016: Hemoglobin
Helena H L Lee, Annisa S L Mak, K O Kou, C F Poon, W S Wong, K H Chiu, Patrick K C Au, Kelvin Y K Chan, Anita S Y Kan, Mary H Y Tang, K Y Leung
Hydrops fetalis is commonly due to Hb Bart's (γ4) disease in South East Asia. Here, we report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. Fetal cardiomegaly was first detected on routine mid-trimester scan in a pregnant woman with normal mean corpuscular volume (MCV) and Rhesus positive status. The fetus subsequently developed hydrops fetalis, and cordocentesis showed severe fetal anemia with a hemoglobin (Hb) level of 3...
November 2016: Hemoglobin
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