2,696 results match your criteria Hemoglobin [Journal]


Iron Metabolism and Oxidative Status in Patients with Hb H Disease.

Hemoglobin 2019 Mar 27:1-4. Epub 2019 Mar 27.

a Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Department of Pediatrics , Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University , Guangzhou, Guangdong Province , People's Republic of China.

To evaluate the iron metabolism and oxidative status in patients with Hb H disease, we investigated 43 patients with Hb H disease, including eight deletional Hb H disease patients and 35 nondeletional Hb H disease patients and 20 healthy controls. The levels of hematological parameters, serum ferritin, hepcidin, superoxide dismutase (SOD), malondialdehyde (MDA) and total antioxidant capacity (TAC), were examined. We found higher serum ferritin levels and lower hepcidin, MDA and TAC levels in Hb H disease patients than in controls. Read More

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http://dx.doi.org/10.1080/03630269.2019.1575850DOI Listing

Purulent Pericarditis in Sickle Cell Disease Due to Streptococcus agalactiae; a Unique Case Report and Literature Review.

Hemoglobin 2019 Mar 18:1-3. Epub 2019 Mar 18.

a Downstate College of Medicine, Department of Medicine, Division of Hematology-Oncology , State University of New York , Brooklyn , NY , USA.

Purulent pericarditis is a localized infection with a thick, fibrinous hypercellular exudate and is historically associated with a high mortality. We describe a case of purulent pericarditis due to Streptococcus agalactiae (S. agalactiae) in a 30-year-old woman with sickle cell disease who presented with fever, dyspnea, and S. Read More

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http://dx.doi.org/10.1080/03630269.2019.1579736DOI Listing
March 2019
2 Reads
0.955 Impact Factor

Identification of a Novel 9.7 kb Deletion Causing α-Thalassemia in Two Pregnant Women in Southern China.

Hemoglobin 2018 May;42(3):209-212

a Laboratory of Genetics and Metabolism , Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Xiangzhu , Nanning , Guangxi Zhuang Autonomous Region , People's Republic of China.

The technique of combining multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (CGH) and gap-polymerase chain reaction (gap-PCR) is an effective way to locate unknown breakpoints on the α-globin genes. In the current report, a novel deletion was detected in two pregnant women with moderate hematological phenotypes. Multiplex ligation-dependent probe amplification and array CGH revealed a probable 9. Read More

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http://dx.doi.org/10.1080/03630269.2018.1516673DOI Listing
May 2018
1 Read

Various α-Thalassemia Genotype Combinations of the Saudi-Type Polyadenylation Signal Mutation (αα) in the Population of Bahrain: An Update of Genotype-Phenotype Analyses.

Hemoglobin 2018 May;42(3):166-170

a Genetic Laboratory, Department of Pathology , Salmaniya Medical Complex , Manama , Kingdom of Bahrain.

The Saudi-type polyadenylation (polyA) signal mutation on the α2-globin gene, HBA2: c.*94A > G; AATAAA>AATAAG; αα, is one of the major α-thalassemia (α-thal) determinants in the population of Bahrain. We determined five different genotype combinations involving this mutation in Bahrain. Read More

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http://dx.doi.org/10.1080/03630269.2018.1499523DOI Listing
May 2018
2 Reads

First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.

Hemoglobin 2019 Mar 7:1-3. Epub 2019 Mar 7.

a Molecular Biology and Biotechnology Department, Human Genetics Division , Atomic Energy Commission of Syria , Damascus , Syria.

We describe a proband originating from Al-Quneitra Province, Syria. His hematology data was as follows: Hb A 24.7%, Hb F 71. Read More

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http://dx.doi.org/10.1080/03630269.2019.1577254DOI Listing
March 2019
1 Read

BCL11A Down-Regulation Induces γ-Globin in Human β-Thalassemia Major Erythroid Cells.

Hemoglobin 2018 Jul;42(4):225-230

a Department of Hematology , The First Affiliated Hospital of Guangxi Medical University , Nanning , Guangxi Zhuang Autonomous Region , People's Republic of China.

Fetal hemoglobin (Hb F, α2γ2) is a potent genetic modifier of the severity of β-thalassemia (β-thal) and sickle cell anemia. Differences in the levels of HbF that persist into adulthood affect the severity of sickle cell disease and the β-thal syndromes. B-cell lymphoma 11 A (BCL11A) is a potent silencer of HbF. Read More

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http://dx.doi.org/10.1080/03630269.2018.1515774DOI Listing
July 2018
2 Reads

First Report of a Coincidental Discovery of Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] in a Greek Family.

Hemoglobin 2018 Jul;42(4):281-282

a Haemoglobinopathy Prevention Unit, Hippokration Hospital of Thessaloniki , Thessaloniki , Greece.

The rare Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] has been reported in Western Japan. Hb Shimonoseki seems to be an innocuous variant and few published data are available. Read More

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http://dx.doi.org/10.1080/03630269.2018.1513368DOI Listing

Awareness and Attitude of University Students About Screening and Testing for Hemoglobinopathies: Case Study of the Aseer Region, Saudi Arabia.

Hemoglobin 2018 Jul 3;42(4):264-268. Epub 2019 Jan 3.

b Clinical Pathology Department, Faculty of Medicine , Zagazig University , Zagazig , Egypt.

Hemoglobinopathies can disturb a patient's life style leading to community problems. Premarital screening is an important tool to control and minimize hemoglobinopathies. This study aimed to assess and improve the awareness and attitude of King Khalid University (KKU) [Abha, Kingdom of Saudi Arabia (KSA)] students in the Aseer Region, regarding hemoglobinopathies and the National Premarital Screening Programme (NPMS) in addition to screening for hemoglobin (Hb) variants of students who agreed to participate. Read More

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http://dx.doi.org/10.1080/03630269.2018.1541802DOI Listing
July 2018
4 Reads

Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family.

Hemoglobin 2019 Feb 27:1-4. Epub 2019 Feb 27.

a Dongguan Maternal and Child Health Hospital , Prenatal Diagnosis Center , Dongguan , Guangdong , People's Republic of China.

The α-thal deletion of 3.557 kb (NG_000006.1: g. Read More

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http://dx.doi.org/10.1080/03630269.2019.1575849DOI Listing
February 2019
1 Read

Methemoglobin Forming Effect of Dimethyl Trisulfide in Mice.

Hemoglobin 2018 Sep - Nov;42(5-6):315-319

a Department of Chemistry , Sam Houston State University , Huntsville , TX , USA.

Dimethyl trisulfide (DMTS) is a natural organic trisulfide that has been patented as a promising antidotal candidate against cyanide (CN). The primary mode of action of DMTS is as a sulfur donor that enables the conversion of CN to thiocyanate. Recently, it was discovered that DMTS is capable of oxidizing hemoglobin (Hb) to methemoglobin (MetHb) in vitro. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1553182DOI Listing
February 2019
2 Reads

Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia.

Hemoglobin 2019 Feb 12:1-6. Epub 2019 Feb 12.

c Department of Genetics, Faculty of Medicine , Babol University of Medical Sciences , Babol , Iran.

Thalassemia is a hereditary disease with an autosomal recessive inheritance pattern resulting in reduced production of globin chains. Mutations in modifier genes can cause or affect thalassemia. Krüppel-like factor 1 (KLF1) is a modifier gene that was investigated in this study. Read More

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http://dx.doi.org/10.1080/03630269.2019.1567528DOI Listing
February 2019
3 Reads

Quality of Life of Pakistani Children with β-Thalassemia Major.

Hemoglobin 2018 Sep - Nov;42(5-6):320-325. Epub 2019 Jan 30.

a Department of Microbiology and Molecular Genetics , University of the Punjab , Quaid-e-Azam Campus , Lahore , Punjab , Pakistan.

Compromised quality of life (QoL) has been reported in individuals suffering from β-thalassemia major (β-TM) in Pakistan. However, insufficient data of its associated psychosocial, physical and other disease-related determinants is available. In an observational analytical study, 200 subjects aged between 5-25 years, were examined using a transfusion-dependent QoL (TranQoL) questionnaire. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1553183DOI Listing
January 2019
12 Reads

Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.

Hemoglobin 2018 Sep - Nov;42(5-6):287-293. Epub 2019 Jan 30.

a Institut National de la Sante et de la Recherche Médicale (INSERM) U 955 eq 2 , Institut Mondor de Recherche Biomoléculaire (IMRB) , Créteil , France.

A small group of hemoglobin (Hb) variants result from 'in-frame' deletion/insertion (del/ins). We describe a new variant of this group (Hb Choisy), found on the α1 gene, which is the exact counterpart of a previously published deletional variant, Hb J-Biskra [codons 51-58 (or codons 52-59) (-24 bp) (-TCTGCCCAGGTTAAGGGCCACGGC); HBA1: c.157_180del (or HBA2)]. Read More

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http://dx.doi.org/10.1080/03630269.2018.1556683DOI Listing
January 2019
2 Reads

An Additional Case of Hb Saint Nazaire [β103(G5)Phe→Ile; HBB: c.310T>A] Leading to Moderate Erythrocytosis in a French Family.

Hemoglobin 2019 Jan 30:1-2. Epub 2019 Jan 30.

a Service d'Hématologie Biologique, Centre Hospitalier Universitaire de Rouen , Rouen , France.

We report two members of a French family who are carriers of a rare hemoglobin (Hb) variant leading to erythrocytosis: Hb Saint Nazaire [β103(G5)Phe→Ile; HBB: c.310T>A]. The proband is a 38-year-old woman referred to our institution for a moderate but persistent polycythemia without any clinical consequence. Read More

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http://dx.doi.org/10.1080/03630269.2019.1567529DOI Listing
January 2019
1 Read

First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene.

Hemoglobin 2018 Sep - Nov;42(5-6):344-346. Epub 2019 Jan 24.

c Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.

In this report, we describe a prenatal case with cardiomegaly and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 22 weeks' gestation. Fetal blood sampling revealed moderate anemia (Hb 7.4 g/dL) and increased Hb Bart's (γ4) level (28. Read More

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http://dx.doi.org/10.1080/03630269.2018.1556684DOI Listing
January 2019
1 Read

Quality of Life and Depression in Turkish Patients with β-Thalassemia Major: A Cross-Sectional Study.

Hemoglobin 2018 Sep - Nov;42(5-6):326-329. Epub 2019 Jan 23.

b Clinic of Pediatric Hematology-Oncology, Sağhk Bakanlığı Üniveristesi, İzmir Dr. Behçet Uz Çocuk Sağlığı ve Cerrahisi Eğitim Araştırma Hastanesi , İzmir , Turkey.

Thalassemias are the most common monogenic disorders worldwide. Thalassemia patients experience difficulties in their schooling, finding jobs and/or marriage because of functional and physical limitations caused by this disease. It is expected that the quality of life (QoL) of patients with thalassemia will be lower than those without this disease. Read More

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http://dx.doi.org/10.1080/03630269.2018.1551231DOI Listing
January 2019
5 Reads
0.955 Impact Factor

Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients.

Hemoglobin 2018 Sep - Nov;42(5-6):302-305. Epub 2019 Jan 22.

c Thalassaemia Centre , Damascus , Syria.

β-Globin haplotypes were used to investigate the origin of three common β-globin mutations, IVS-I-110 (G>A); HBB: c.93-21G>A, IVS-I-1 (G>A); HBB: c.92 + 1G>A and codon 39 (C>T); HBB: c. Read More

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http://dx.doi.org/10.1080/03630269.2018.1553789DOI Listing
January 2019
3 Reads

Hematological and Molecular Findings in the First Case of Hb J-Norfolk [HBA2: c.173G>A (or HBA1] in an Indian Patient.

Hemoglobin 2018 Sep - Nov;42(5-6):333-335. Epub 2019 Jan 16.

a Department of Assisted Reproduction and Genetics , Jaslok Hospital and Research Centre , Mumbai , Maharashtra , India.

We here report a case of a 23-year-old female from Mumbai, Maharashtra, India who was detected to carry the α chain variant Hb J-Norfolk [HBA2: c.173G>A (or HBA1]. She had no clinical symptoms and was referred to us for routine investigations and screening. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1561462DOI Listing
January 2019
9 Reads

Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India.

Hemoglobin 2018 Sep - Nov;42(5-6):297-301. Epub 2019 Jan 9.

b Surat Raktadan Kendra, Udhna Khatodara Urban Health Centre , Near Chosath Joganio Mata Mandir , Surat , Gujarat State , India.

Genetic structure of the Indian population is influenced by waves of several immigrants from West Eurasia. Therefore, genetic information of various ethnic groups is valuable to understand their origins, the pattern of migration as well as the genetic relationship between them. No genetic data is available on Pathare Prabhu, which is a small indigenous Hindu community from Mumbai, Maharashtra State, India. Read More

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http://dx.doi.org/10.1080/03630269.2018.1544909DOI Listing
January 2019
5 Reads

A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism.

Hemoglobin 2018 Jul 9;42(4):283-285. Epub 2019 Jan 9.

a Struttura Semplice Dipartimentale Centro della Microcitemia, Anemie Congenite e Dismetabolismo del Ferro , Genova , Italia , Ente Ospedaliero Ospedali Galliera.

Single point mutations or small deletions in the γ - and γ-globin gene promoter region are associated to the nondeletional hereditary persistence of fetal hemoglobin (HPFH). Currently, DNA sequencing is most common technique adopted for detection of hemoglobin (Hb) mutations. However, some can be rapidly detected because they either destroy or create a recognition site for a restriction enzyme. Read More

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http://dx.doi.org/10.1080/03630269.2018.1534741DOI Listing
July 2018
2 Reads

Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications.

Hemoglobin 2018 Sep - Nov;42(5-6):336-338. Epub 2019 Jan 9.

a Child Health Department, Faculty of Medicine , University of Ioannina , Ioannina , Greece.

Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Read More

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http://dx.doi.org/10.1080/03630269.2018.1558066DOI Listing
January 2019
4 Reads

β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.

Hemoglobin 2018 Sep - Nov;42(5-6):294-296. Epub 2019 Jan 9.

b Department of Paediatric Oncology, Haematology and Immunology , Heidelberg University , Heidelberg , Germany.

Over the last 43 years, surveys of over 200,000 subjects in Jamaica have identified β-thalassemia (β-thal) mutations. In most, these genes were detected at birth in patients with sickle cell-β-thal and so the prevalence and distribution would not be influenced by subsequent clinical course. There were two newborn populations, 100,000 deliveries in the corporate area between 1973-1981 and 84,940 in south and western Jamaica between 2008-2016. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1540354DOI Listing
January 2019
12 Reads

Successful Outcome of Hyperhemolysis in Sickle Cell Disease following Multiple Lines of Treatment: The Role of Complement Inhibition.

Hemoglobin 2018 Sep - Nov;42(5-6):339-341. Epub 2019 Jan 9.

a Adult Thalassaemia Unit, 2nd Department of Internal Medicine , Aristotle University of Thessaloniki, Hippokration General Hospital of Thessaloniki , Thessaloniki , Greece.

Delayed hemolytic transfusion reaction (DHTR) is a life-threatening complication in patients with sickle cell disease, characterized by difficulties in diagnosis and management. Certain reports have suggested successful salvage treatment with the terminal complement inhibitor, eculizumab. We here report evidence of complement activation and successful complement inhibition with one dose of eculizumab in an adult sickle cell disease patient presenting DHTR with hyperhemolysis. Read More

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http://dx.doi.org/10.1080/03630269.2018.1540353DOI Listing
January 2019
11 Reads
0.955 Impact Factor

Detection of Hb A and Hb Constant Spring (HBA2: c.427T>C) by Capillary Electrophoresis in a Patient with Hb H-Hb CS Disease.

Hemoglobin 2018 Sep - Nov;42(5-6):342-343. Epub 2019 Jan 9.

a Prenatal Diagnostic Center, People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , Guangxi Zhuang Autonomous Region , People's Republic of China.

Hb A (α2δ2) is one of the key components looked for in hemoglobinopathies screening programs. Therefore, quantitative and accurate method for Hb A value determination is essential for routine screening. Here, we report a case of Hb A and Hb Constant Spring (Hb CS, HBA2: c. Read More

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http://dx.doi.org/10.1080/03630269.2018.1551232DOI Listing
January 2019
2 Reads

A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia.

Hemoglobin 2018 Jul 9;42(4):247-251. Epub 2019 Jan 9.

e Department of Medical Science II , Faculty of Medicine and Health Science, Universiti Sains Islam Malaysia , Nilai , Malaysia.

Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Read More

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http://dx.doi.org/10.1080/03630269.2018.1528985DOI Listing
July 2018
4 Reads
0.955 Impact Factor

Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients.

Hemoglobin 2018 Sep - Nov;42(5-6):306-309. Epub 2019 Jan 7.

a Prenatal Diagnostic Center , Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong Province , People's Republic of China.

The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7. Read More

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http://dx.doi.org/10.1080/03630269.2018.1561461DOI Listing
January 2019
5 Reads

First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family.

Hemoglobin 2018 Jul 7;42(4):272-275. Epub 2019 Jan 7.

a Prenatal Diagnostic Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi Zhuang Autonomous Region , People's Republic of China.

β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β) or absent (β) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. Read More

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http://dx.doi.org/10.1080/03630269.2018.1531018DOI Listing
July 2018
3 Reads

Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis.

Hemoglobin 2018 Sep - Nov;42(5-6):330-332. Epub 2019 Jan 7.

a Department of Laboratory Medicine , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.

We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ β-Thalassemia Short Program) showed no suspicious Hb variant. Read More

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http://dx.doi.org/10.1080/03630269.2018.1540352DOI Listing
January 2019
13 Reads
0.955 Impact Factor

Compound Heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A).

Hemoglobin 2018 Jul 3;42(4):269-271. Epub 2019 Jan 3.

a Department of Pathology , University Hospitals Cleveland Medical Center and Case Western Reserve University , Cleveland , OH , USA.

We report an individual with a compound heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A), a hemoglobin (Hb) combination not previously identified. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1523799DOI Listing
July 2018
13 Reads

Drepa-Opia: A Pilot Study to Determine the Predictive Factors of Morphine Use and Consumption in Hospitalized Adult Patients with Sickle Cell Disease.

Hemoglobin 2018 Jul 3;42(4):217-224. Epub 2019 Jan 3.

c Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe 'Biologie Vasculaire et du Globule Rouge' , Université Claude Bernard Lyon 1 , Communauté d'Universités et d'Establissments (COMUE) de Lyon, France.

The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 to 60 years, one to six hospitalizations each) were recorded; we investigated the associations between qualitative and quantitative opioid requirements and several biological, clinical, epidemiological and genetic parameters. Visual analog pain scale (VAS) was the only independent predictor of the qualitative need for morphine (mean value of 8. Read More

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http://dx.doi.org/10.1080/03630269.2018.1529602DOI Listing
July 2018
4 Reads

The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature.

Hemoglobin 2018 Sep - Nov;42(5-6):310-314. Epub 2018 Dec 17.

a Departamento de Microbiología , Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Inmunología, Biotecnología y Genética/Cátedra de Genética , Buenos Aires , Argentina.

Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding the nascent peptides and helping them acquire their native structure, preventing oxidative damage by free globin chains and preventing the cleavage of essential erythroid transcription factors. This study analyzed the distribution of the single nucleotide polymorphism (SNP) rs4296276 in intron 1 of the α-globin chaperone α Hb-stabilizing protein (AHSP) in the Argentinean population. Read More

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http://dx.doi.org/10.1080/03630269.2018.1544145DOI Listing
December 2018
4 Reads

Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.

Hemoglobin 2018 Jul 3;42(4):257-263. Epub 2018 Dec 3.

c Thalassaemia National Centre of Greece , Laiko General Hospital of Athens , Athens , Greece.

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Read More

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http://dx.doi.org/10.1080/03630269.2018.1528986DOI Listing
July 2018
3 Reads
0.955 Impact Factor

Relationship Between Social Determinants of Health and the Thalassemia Prenatal Diagnosis Test in Zahedan, South Eastern Iran.

Hemoglobin 2018 Jul 29;42(4):231-235. Epub 2018 Nov 29.

e School of Medicine , Zahedan University of Medical Sciences , Zahedan , Iran.

Little is known about the social determinants of health (SDH) of taking the prenatal diagnosis (PND) test as a pivotal strategy to prevent occurrences of β-thalasssemia major (β-TM). This study sought to evaluate the relationship between socio-demographic characteristics of parents and taking the PND test at Zahedan, Iran from 2015 to 2016. The design of the present study was a case-control. Read More

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http://dx.doi.org/10.1080/03630269.2018.1520718DOI Listing
July 2018
4 Reads
0.955 Impact Factor

Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia.

Hemoglobin 2018 Jul 29;42(4):236-242. Epub 2018 Nov 29.

e Department of Haematogenetics , National Institute of Immuno-Haematology , Parel, Mumbai , India.

Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe. Hb S (HBB: c.20A>T)-β-thalassemia (β-thal) is a compound aberrant heterozygosity with inconsistent phenotypic expression, which are poorly described and clinically mapped. Read More

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http://dx.doi.org/10.1080/03630269.2018.1536666DOI Listing
July 2018
7 Reads

A Rare Hb H Hydrops Fetalis Syndrome Caused by the - - Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient.

Hemoglobin 2018 Jul 29;42(4):278-280. Epub 2018 Nov 29.

b Department of Gynecology and Obstetrics, Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Nanfang Hospital , Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - - (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1536665DOI Listing
July 2018
9 Reads

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.

Hemoglobin 2018 Jul 19;42(4):252-256. Epub 2018 Nov 19.

a Genetics Research Center, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.

Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from misalignment of a homologous sequence of an α-globin gene during meiosis can produce a numerical alteration. A single α-globin gene deletion is the most frequent mutation in α-thalassemia (α-thal) worldwide, while the additional α-globin chain is relatively common. Read More

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http://dx.doi.org/10.1080/03630269.2018.1526192DOI Listing
July 2018
16 Reads
0.955 Impact Factor

Prevalence of α-Thalassemia in the Egyptian Population.

Hemoglobin 2018 Jul 13;42(4):243-246. Epub 2018 Nov 13.

b Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt.

Hemoglobinopathies are the most common monogenic diseases in the world, causing many health problems worldwide. In Egypt, thalassemia is the most common cause of chronic hemolytic anemia and correlated with significant morbidity and mortality. One thousand Egyptian newborns were screened to detect α-thalassemia (α-thal) deletions using polymerase chain reaction (PCR)-based DNA analysis of cord blood samples. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1527231DOI Listing
July 2018
23 Reads

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.

Hemoglobin 2018 Jul 13;42(4):276-277. Epub 2018 Nov 13.

a Department of Haemopoietic Pathologies , Institute of Hematology and Blood Transfusion , Baku , Azerbaijan.

Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. Read More

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http://dx.doi.org/10.1080/03630269.2018.1528987DOI Listing
July 2018
4 Reads

Analysis of Gene Mutation Types of α- and β-Thalassemia in Fuzhou, Fujian Province in China.

Hemoglobin 2018 May 22;42(3):143-147. Epub 2018 Oct 22.

a Department of Hematology , The Affiliated People's Hospital of Fujian University of Traditional Chinese Medicine , Fuzhou , Fujian Province , People's Republic of China.

The aim of this study was to explore the type and distribution of α- and β-thalassemia (α- and β-thal) mutations/deletions in Fuzhou, Fujian Province, People's Republic of China (PRC). For patients whose mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) conforms to the characteristics of thalassemia, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot-blot assays were used to detect α- and β-thal mutations/deletions. Four hundred and twenty-eight cases of thalassemia were detected in 752 suspected cases of thalassemia, including 248 cases of α-thal (57. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1496096DOI Listing
May 2018
10 Reads

Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant.

Hemoglobin 2018 May 17;42(3):199-202. Epub 2018 Oct 17.

a Department of Haematology , Addenbrooke's Hospital , Cambridge , Cambridgeshire , UK.

We report a novel hemoglobin (Hb) variant with a β chain amino acid substitution at codon 78 (CTG>CCG) (HBB: c.236T>C), detected through prenatal screening via capillary electrophoresis (CE) in an otherwise healthy and asymptomatic 38-year-old female of Southeast Asian ancestry. The variant, named Hb Penang after the proband's Malaysian city of origin, underwent further characterization through high performance liquid chromatography (HPLC), reversed phase HPLC, Sanger sequencing, isopropanol stability testing and isoelectric focusing (IEF). Read More

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http://dx.doi.org/10.1080/03630269.2018.1513849DOI Listing
May 2018
4 Reads

A Simple Whole-Blood Polymerase Chain Reaction without DNA Extraction for Thalassemia Diagnosis.

Hemoglobin 2018 May 4;42(3):178-183. Epub 2018 Oct 4.

a Research Center for Hematology and Health Technology, Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand.

Polymerase chain reaction (PCR) diagnosis of thalassemia usually relies on using genomic DNA. Preparing the genomic DNA can lead to sample-to-sample contamination. This report was aimed to establish the PCR protocol using whole-blood for detecting mutations of α- and β-globin genes causing the thalassemia syndrome. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1496929DOI Listing
May 2018
4 Reads

Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain.

Hemoglobin 2018 May 2;42(3):206-208. Epub 2018 Oct 2.

a Department of Clinical Medical Laboratory , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.

We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A], in a Chinese individual. The proband, a 28-year-old Chinese female, was discovered following routine Hb A analysis using cation exchange high performance liquid chromatography (HPLC). Read More

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http://dx.doi.org/10.1080/03630269.2018.1502197DOI Listing
May 2018
3 Reads
0.960 Impact Factor

A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C].

Hemoglobin 2018 May 2;42(3):196-198. Epub 2018 Oct 2.

a Department of Clinical Medical Laboratory , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.

We report a novel β-globin chain variant, Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C], in a 52-year-old Chinese individual. The hemoglobin (Hb) variant takes the position of the Hb D zone using capillary electrophoresis. Read More

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http://dx.doi.org/10.1080/03630269.2018.1510418DOI Listing
May 2018
5 Reads
0.960 Impact Factor

Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual.

Hemoglobin 2018 May 2;42(3):184-188. Epub 2018 Oct 2.

a Department of Medical Genetics , School of Basic Medical Sciences, Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Abnormal hemoglobins (Hbs) are one of the most common hemoglobinopathies worldwide. Some Hb gene mutations may produce unstable, abnormal Hbs causing macrocytic hemolysis. We identified a novel, de novo deletion/frameshift mutation at nucleotide position 408 in exon 3 of the β-globin gene (HBB: c. Read More

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http://dx.doi.org/10.1080/03630269.2018.1496928DOI Listing
May 2018
3 Reads

Analysis of the Genotypes in a Chinese Population with Increased Hb A and Low Hematological Indices.

Hemoglobin 2018 May 2;42(3):154-158. Epub 2018 Oct 2.

b Prenatal Diagnostic Center , Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Increased Hb A is considered the most reliable hematological finding for the identification of β-thalassemia (β-thal) carriers. The aim of this study was to determine the underlying genetic factors associated with a high Hb A level in a Chinese population. Subjects were recruited from couples preparing for pregnancy who participated in the thalassemia screening program during a 2-year period. Read More

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http://dx.doi.org/10.1080/03630269.2018.1509869DOI Listing
May 2018
4 Reads

Atrial fibrillation in β-thalassemia Major Patients: Diagnosis, Management and Therapeutic Options.

Hemoglobin 2018 May 1;42(3):189-193. Epub 2018 Oct 1.

c Dipartimento of Clinical and Biological Sciences , Turin University, San Luigi Gonzaga , Torino , Italy.

The prevalence of atrial fibrillation (AFib) in β-thalassemia major (β-TM) patients has increased in the last few years, reaching up to 33.0%. Several factors may drive this value to even more in the next few years. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1488724DOI Listing
May 2018
9 Reads

A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC).

Hemoglobin 2018 May 25;42(3):159-160. Epub 2018 Sep 25.

a Department of Medical Genetics , Ganzhou Maternal and Child Health Hospital , Ganzhou , Jiangxi Province , People's Republic of China.

β-Thalassemia (β-thal) is one of the most common inherited disorders in southern China. More than 300 β-globin gene mutations around the world have been reported in the HbVar database. In this study, a novel mutation in a 30-year-old Chinese woman [IVS-II-203-205 (TCT>CC), HBB: c. Read More

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http://dx.doi.org/10.1080/03630269.2018.1499524DOI Listing
May 2018
5 Reads

Life-Threatening Drug-Induced Liver Injury in a Patient with β-Thalassemia Major and Severe Iron Overload on Polypharmacy.

Hemoglobin 2018 May 25;42(3):213-216. Epub 2018 Sep 25.

a Department of Women, Child and General and Specialized Surgery , University of Campania 'Luigi Vanvitelli' , Naples , Italy.

A 20-year-old male affected by transfusion-dependent β-thalassemia (β-thal), was prescribed intensive chelation therapy with deferoxamine (DFO) and deferiprone (DFP) because of severe hepatic and cardiac iron overload and β-blocker and warfarin to manage a previous event of atrial fibrillation (AFib) and heart failure. After a few months, he developed critical liver failure, renal tubulopathy and severe electrolyte imbalance. Laboratory and instrumental evaluations were performed to carry out differential diagnosis of acute liver failure and an exclusion diagnosis of drug induced liver injury (DILI) was made. Read More

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http://dx.doi.org/10.1080/03630269.2018.1503187DOI Listing
May 2018
6 Reads

Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c*96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of ααα/αα in Greece. A Case Presentation.

Hemoglobin 2018 May 12;42(3):194-195. Epub 2018 Sep 12.

c Adult Thalassemia Unit, Second Department of Internal Medicine , Aristotle University of Thessaloniki , Thessaloniki , Greece.

The rare point mutation Cap +1570 (T>C) (HBB: c*96T>C) has been reported in families of Czech, Greek, Turkish and Italian origin. The mutation contributes to a reduction of the β-globin chain synthesis, and in heterozygous carriers, it causes a silent phenotype, while in compound heterozygosity with severe β-thalassemia (β-thal) mutations, it leads to a non transfusion dependent β-thal intermedia (β-TI) state. We report a case of compound heterozygosity for codon 39 (C>T) (HBB: c. Read More

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http://dx.doi.org/10.1080/03630269.2018.1495648DOI Listing
May 2018
3 Reads
0.960 Impact Factor

KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population.

Hemoglobin 2018 May 12;42(3):161-165. Epub 2018 Sep 12.

a Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is a regulator of definitive erythropoiesis. The aim of this study was to detect KLF1 gene variants in α-thalassemia (α-thal) carriers with an increased Hb F level in a Chinese population, and determine the changes of hematological parameters as a result of interactions between KLF1 gene mutations and α-thal. Subjects with α-thal and Hb F levels of ≥1. Read More

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http://dx.doi.org/10.1080/03630269.2018.1486325DOI Listing
May 2018
5 Reads