Read by QxMD icon Read


Xi Yao, Lu-Hong Xu, Hong-Gui Xu, Xin-Yu Li, Yong Liu, Jian-Pei Fang
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...
March 27, 2019: Hemoglobin
Alina Bhat, Elvira Neculiseanu, Eric L Tam, Adam Gendy, Daniel L Beckles, Carol Luhrs, Albert Braverman
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. agalactiae septicemia. Despite timely initiation of antibiotics, she developed a large purulent pericardial effusion requiring surgical pericardiocentesis followed by a pericardial window...
March 18, 2019: Hemoglobin
Hossam Murad, Faten Moassas
We describe a proband originating from Al-Quneitra Province, Syria. His hematology data was as follows: Hb A 24.7%, Hb F 71.1%, Hb A2 4.2%. Molecular analysis, based on DNA sequencing of the β-globin gene mutation, showed for the first time a compound heterozygous IVS-I-1 (G>A) (HBB: c.92+1G>A)/IVS-II-705 (T>G) (HBB: c.316-146T>G) on the β-globin gene. A reverse hybridization technique revealed that the proband was also an α-thalassemia (α-thal) -α3.7 (rightward) deletion carrier. Haplotypes analysis for the seven polymorphic restriction sites showed that the compound heterozygous mutations, IVS-I-1/IVS-II-705, were linked to two haplotypes: I [+ - - - - + +] and VI [- + + - - - +], respectively...
March 7, 2019: Hemoglobin
Ying Zhao, Jiwu Lou, Manna Sun, Youqing Fu, Wanling Ye, Yanjin Li, Yunshi Dai, Yanhui Liu
The α+ -thal deletion of 3.557 kb (NG_000006.1: g.32745_36301del, -αMAL3.5 ), involving the entire α2-globin gene, was identified in a Chinese family by multiplex ligation-dependent probe amplification (MLPA) followed by gap-polymerase chain reaction (gap-PCR) and sequencing. The proband, a compound heterozygote for this mutant gene and the Southeast Asian (- -SEA ; NG_000006.1: g.26264_45564del19301) deletion, had a phenotype of Hb H disease [hemoglobin (Hb) 7.6 g/dL, mean corpuscular volume (MCV) 60...
February 27, 2019: Hemoglobin
Ahmad Tamaddoni, Sahar Khabaz Astaneh, Reza Tabaripour, Haleh Akhavan-Niaki
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. Thirty-five Iranian β-thalassemia (β-thal) minor patients with hematological symptoms including Hb A2 3.0%, mean corpuscular volume (MCV) <75.0 fL, mean corpuscular hemoglobin (Hb) (MCH) <25.0 pg, and two β-thal intermedia (β-TI) patients in 50 subjects who carried no mutations on the HBB and HBA2 or HBA1 genes were investigated for all exons of the KLF1 gene by polymerase chain reaction (PCR) and sequencing methods...
February 12, 2019: Hemoglobin
Humaira Yasmeen, Shahida Hasnain
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. Clinical records and other related data were also gathered from transfusion center databases. The TranQoL mean score was 48...
January 30, 2019: Hemoglobin
Henri Wajcman, Alexandre G de Brevern, Jean Riou, Celine Latouche, Michael C Marden, Serge Pissard
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)]. In Hb J-Biskra, the sequence Ser-Ala-Gln-Val-Lys-Gly-His-Gly located from positions α52(E1) to α59(E8) is deleted, while in Hb Choisy the same sequence (Ser-Ala-Gln-Val-Lys-Gly-His-Gly) is inserted at position α52(E1)...
January 30, 2019: Hemoglobin
Victor Bobée, Guillaume Feugray, Valéry Brunel, Philippe Joly, Agnès Lahary
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. As her mother had a similar blood count, a diagnosis of a Hb variant with high oxygen affinity was proposed. The variant was difficult to detect by capillary electrophoresis (CE) and not distinguishable by high performance liquid chromatography (HPLC) and isoelectric focusing...
January 30, 2019: Hemoglobin
Xiao-Hong He, Rui Zhang, Guang-Xing Mai, Li-Rong Ren, Dong-Zhi Li
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 (28.2%), indicative of Hb H (β4) disease. Molecular analysis of the family members revealed that the pregnant woman carried a heterozygous IVS-I-116 (A>G) (HBA2: c.96-2A>G) mutation of α2-globin gene, and the fetus was a compound heterozygote for IVS-I-116 and the Southeast Asian (- -SEA ) deletion...
January 24, 2019: Hemoglobin
Ersin Töret, Nihal Ö Karadaş, Nazlı Ö Gökçe, Arife Kaygusuz, Tuğba H Karapınar, Yeşim Oymak, Salih Gözmen
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. The aim of this study was to benefit worldwide thalassemia patients in terms of QoL and mental health. This cross-sectional study was performed in Turkey. The study population consisted of of 57 β-thalassemia major (β-TM) patients and the control group...
January 23, 2019: Hemoglobin
Hossam Murad, Faten Moassas, Ifad Ghoury, Yasser Mukhalalaty
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.118C > T in Syrian patients. Haplotype analysis was done for 49 unrelated patients with β-thalassemia (β-thal) and 20 unrelated healthy subjects by polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) for the β-globin gene cluster of the following polymorphic restriction sites: HincII 5' to ε, HindIII 5' to G γ, HindIII 5' to A γ, HincII in ψβ, HincII 3' to ψβ, AvaII in β, and HinfI 3' to β...
January 22, 2019: Hemoglobin
Sona B Nair, Arundhati S Athalye, Prochi F Madon, Partha Sarathi Das, Firuza R Parikh
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. An abnormal peak was detected on both high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) with a fast-moving band on cellulose acetate electrophoresis. There is no detailed study on the HPLC and CE pattern of this hemoglobin (Hb) variant, and therefore, this study will help in detecting and avoiding missing these variants during routine investigations and population screening...
January 16, 2019: Hemoglobin
Ajit C Gorakshakar, Pearl V Breganza, Stacy P Colaco, Roshan F Shaikh, Meenu Y Bohra, Pratibha M Sawant, Anita H Nadkarni, Roshan B Colah, Kanjaksha K Ghosh
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. The aim of this study was to screen the Pathare Prabhus for hemoglobinopathies, which is a major public health problem in India...
January 9, 2019: Hemoglobin
Marco Musso, Gian Luca Forni
Single point mutations or small deletions in the A γ - and G 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. Here we show that the 4 bp deletion, HBG1: g.-225_-222delAGCA in the A γ-globin gene promoter can be easily detected using the Tru1I (MseI) restriction enzyme that cuts only in the absence of this deletion...
January 9, 2019: Hemoglobin
Graham R Serjeant, Beryl E Serjeant, Karlene P Mason, Margit Happich, Andreas E Kulozik
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. A third population, which derived from the Manchester Project in central Jamaica, screened 16,612 secondary school children, aged predominantly 15-19 years, and identified 150 students with the β-thal trait and 11 with sickle cell [Hb S (HBB: c...
January 9, 2019: Hemoglobin
Efthymia Vlachaki, Eleni Gavriilaki, Katerina Kafantari, Despoina Adamidou, Dimitris Tsitsikas, Eleni Chasapopoulou, Achilles Anagnostopoulos, Apostolos Tsapas
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. A 21-year old female sickle cell disease patient [Hb S (HBB: c...
January 9, 2019: Hemoglobin
Hafiza Alauddin, Khairina Kamarudin, Tang Yee Loong, Raja Zahratul Azma, Azlin Ithnin, Norunaluwar Jalil, Noor-Farisah Razak, Danny Koh-Xuan-Rong, Endom Ismail, Loh C-Khai, Zarina Abdul Latiff, Hamidah Alias, Ainoon Othman
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. Hb Adana [HBA2: c.179G>A (or HBA1)] is a highly unstable variant hemoglobin (Hb) resulting from a mutation at codon 59 on the HBA2 or HBA1 gene, recognized to cause severe α-thalassemia (α-thal) syndromes...
January 9, 2019: Hemoglobin
Sheng He, Qian Qin, Li Lin, Yangjin Zuo, Qiuli Chen, Honghwei Wei, Chenguang Zheng, Biyan Chen, Xiaoxia Qiu
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 (β0 ) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. In China, more than 46 different mutations have been found, while approximately five large deletional types of β-thal have been reported...
January 7, 2019: Hemoglobin
Sirisha Kundrapu, Nafiseh Janaki, Howard J Meyerson
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. The compound hemoglobinopathy was detected in a young woman during routine prenatal screening. Variant Hbs were identified and confirmed by high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) followed by Sanger DNA sequencing. Hb D-Ibadan was present in significant excess over Hb C (70.3 to 24.4%). A complete blood count (CBC) revealed moderate microcytosis with slight anemia...
January 3, 2019: Hemoglobin
Marie Sabrie, Giovanna Cannas, Karim Tazarourte, Solène Poutrel, Philippe Connes, Arnaud Hot, Céline Renoux, Jihane Fattoum, Philippe Joly
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...
January 3, 2019: Hemoglobin
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"