journal
https://read.qxmd.com/read/38500334/the-first-iranian-case-of-unstable-hemoglobin-santa-ana
#1
JOURNAL ARTICLE
Samin Alavi, Soha Mohammadimoghaddam, Hossein Najmabadi, Sina Maghsoudlou
In this report, we describe a 6-year-old girl with a medical history of pallor, mild icterus, anemia, blood transfusion and abnormal hemoglobin variant analysis on capillary electrophoresis. She was referred for further analysis. DNA sequencing of the proband revealed a de novo mutation in Codon 88 (CTG > CCG) of the β-globin gene ( HBB : c.266T > C) in a heterozygous state compatible with hemoglobin Santa Ana, an unstable hemoglobin. This is the first case of Hb Santa Ana from Iran associated with moderate to severe anemia who underwent splenectomy with clinical improvement...
March 18, 2024: Hemoglobin
https://read.qxmd.com/read/38450437/a-new-%C3%AE-globin-gene-variant-hb-a2-yulin-%C3%AE-46-cd5-gly%C3%A2-arg-hbd-c-139g%C3%A2-%C3%A2-a
#2
JOURNAL ARTICLE
Hui-Ming Lin, Liang Liang, Yi-Jiao Cai, Li-Hong Zheng, Qing-Peng Qin, You-Qiong Li
We report a new δ-chain hemoglobin (Hb) variant observed in a 5-year-old female living in Yulin, Guangxi, China. Capillary electrophoresis revealed splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2 variant), and the Hb A2 variant was also detected by high-performance liquid chromatography. However, it could not be detected using matrix-assisted laser desorption lonization-time of flight mass spectrometry. CD41-42 (-TCTT) heterozygosity was observed on the HBB gene by PCR and reverse dot-blot hybridization...
March 7, 2024: Hemoglobin
https://read.qxmd.com/read/38425097/%C3%AE-0-thalassemia-caused-by-a-novel-nonsense-mutation-hbb-c-199a%C3%A2-%C3%A2-t
#3
JOURNAL ARTICLE
John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam
We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, HBB: c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal. The HBB: c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A2 β0 -thal.
February 29, 2024: Hemoglobin
https://read.qxmd.com/read/38419555/long-non-coding-rna-h19-leads-to-upregulation-of-%C3%AE-globin-gene-expression-during-erythroid-differentiation
#4
JOURNAL ARTICLE
Dan Xie, Yuanyuan Han, Wenyi Zhang, Jiangfen Wu, Banquan An, Shengwen Huang, Fa Sun
Long noncoding RNAs (lncRNAs) are important because they are involved in a variety of life activities and have many downstream targets. Moreover, there is also increasing evidence that some lncRNAs play important roles in the expression and regulation of γ-globin genes. In our previous study, we analyzed genetic material from nucleated red blood cells (NRBCs) extracted from premature and full-term umbilical cord blood samples. Through RNA sequencing (RNA-Seq) analysis, lncRNA H19 emerged as a differentially expressed transcript between the two blood types...
February 29, 2024: Hemoglobin
https://read.qxmd.com/read/38390736/a-population-oriented-genetic-scoring-system-to-predict-phenotype-a-pathway-to-personalized-medicine-in-iraqis-with-%C3%AE-thalassemia
#5
JOURNAL ARTICLE
Nasir Al-Allawi, Sulav D Atroshi, Regir K Sadullah, Adil Abozaid Eissa, Gernot Kriegshäuser, Shaima Al-Zebari, Shatha Qadir, Dilan Khalil, Christian Oberkanins
To assess the roles of genetic modifiers in Iraqi β-thalassemia patients, and determine whether a genotype-based scoring system could be used to predict phenotype, a total of 224 Iraqi patients with molecularly characterized homozygous or compound heterozygous β-thalassemia were further investigated for α-thalassemia deletions as well as five polymorphisms namely: rs7482144 C > T at HBG2 , rs1427407 G > T and rs10189857 A > G at BCL11A, and rs28384513 A > C and rs9399137 T > C at HMIP...
February 23, 2024: Hemoglobin
https://read.qxmd.com/read/38369714/efficacy-and-safety-of-a-dispersible-tablet-of-gpo-deferasirox-monotherapy-among-children-with-transfusion-dependent-thalassemia-and-iron-overload
#6
JOURNAL ARTICLE
Ampaiwan Chuansumrit, Duantida Songdej, Nongnuch Sirachainan, Praguywan Kadegasem, Pawaree Saisawat, Witaya Sungkarat, Ketsuda Kempka, Noppawan Tungbubpha
The study aimed to determine efficacy and safety of generic deferasirox monotherapy. Deferasirox was administered in transfusion-induced iron overloaded thalassemia. Efficacy was defined as responders and nonresponders by ≤ 15 reduced serum ferritin from baseline. Adverse events were also monitored. Fifty-two patients with mainly Hb E/β-thalassemia at the mean (SD) age of 8.7 (4.1) years, were enrolled. The mean (SD) daily transfusion iron load was 0.47 (0.1) mg/kg and maximum daily deferasirox was 35...
February 18, 2024: Hemoglobin
https://read.qxmd.com/read/38360540/splice-acceptor-mutation-hbb-c-93-2a%C3%A2-%C3%A2-t-in-a-patient-with-hb-s-%C3%AE-0-thalassemia
#7
JOURNAL ARTICLE
John S Waye, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam
We report a case of Hb S/β0 -thalassemia (Hb S/β0 -thal) in a patient who is a compound heterozygote for the Hb Sickle mutation ( HBB :c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB :c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause β0 -thal.
February 15, 2024: Hemoglobin
https://read.qxmd.com/read/38344813/early-onset-of-severe-anemia-caused-by-hb-calgary-hbb-c-194g%C3%A2-%C3%A2-t-another-case-report
#8
JOURNAL ARTICLE
Hua Jiang, Dong-Zhi Li
Unstable hemoglobin (Hb) variants are a rare cause of congenital hemolytic anemia. We describe a Chinese girl who presented with transfusion-dependent anemia in early infancy. Her diagnosis of Hb Calgary [β64(E8)Gly > Val; HBB :c.194G > T] was not made until molecular testing was performed at the age of 5 years. Our case highlights the importance of early genetic testing in order to make the diagnosis, which may not only be useful for patient management and family counseling, but also for avoiding further unnecessary investigative attempts...
February 12, 2024: Hemoglobin
https://read.qxmd.com/read/38326997/ethical-and-clinical-considerations-in-the-use-of-hydroxyurea-in-pregnant-women-with-sickle-cell-disease
#9
JOURNAL ARTICLE
Gayatri Desai, Kapilkumar Dave, Sumeet Devare, Shrey Desai
No abstract text is available yet for this article.
February 7, 2024: Hemoglobin
https://read.qxmd.com/read/38314585/hb-hebei-%C3%AE-20-b1-his%C3%A2-leu-hba2-c-62a%C3%A2-%C3%A2-t-a-novel-hemoglobin-variant-found-during-measurement-of-glycated-hemoglobin
#10
JOURNAL ARTICLE
Wei-Bin Li, Li-Hong Zheng, You-Qiong Li
We report a novel hemoglobin (Hb) variant found in a 34-year-old Chinese male during a routine measurement of glycated hemoglobin. The variant resulted in a P3 peak of 27.5% of the total Hb on high performance liquid chromatography (HPLC) with a glycated hemoglobin mode. However, no abnormal Hb peaks were observed in capillary electrophoresis (CE) with 3.1% Hb A2 and 96.9% Hb A. The amino acid substitution was determined by Sanger sequencing as α20 (B1) His→Leu; the corresponding DNA mutation was identified as CAC > CTC at the first position of codon 20 of the α-chain...
February 5, 2024: Hemoglobin
https://read.qxmd.com/read/38314576/a-6-year-follow-up-of-a-chinese-child-with-homozygous-%C3%AE-0-thalaasemia-and-a-heterozygous-klf1-mutation
#11
JOURNAL ARTICLE
Shao-Min Wu, Chan Li, Su-Ran Huang, Fan Jiang, Dong-Zhi Li
Patients with the genotype of β0 /β0 for β-thalassemia (β-thal) usually behave as β-thal major (β-TM) phenotype which is transfusion-dependent. The pathophysiology of β-thal is the imbalance between α/β-globin chains. The degree of α/β-globin imbalance can be reduced by the more effective synthesis of γ-globin chains, and increased Hb F levels, modifying clinical severity of β-TM. We report a Chinese child who had homozygous β0 -thal and a heterozygous KLF1 mutation...
February 5, 2024: Hemoglobin
https://read.qxmd.com/read/38263710/factors-associated-with-overt-stroke-in-children-and-adolescents-with-sickle-cell-disease-a-retrospective-cohort-study
#12
JOURNAL ARTICLE
Wolney de Oliveira Taques, Gabriele Curvo Bett, Bárbara Lucia Barbosa de Moraes, Iasmin Medeiros, Cor Jesus Fernandes Fontes, Ruberlei Godinho de Oliveira
Sickle cell disease (SCD) is associated with a high occurrence of complications due to vaso-occlusive phenomenon such as stroke. This retrospective cohort study aimed to examine the clinical and laboratory characteristics of 120 children and adolescents with SCD and analyze the factors associated with overt stroke incidence. All relevant data were obtained from patient medical records. Survival analysis was used to compare the demographic, clinical, and laboratory characteristics between patients with and those without overt stroke...
January 23, 2024: Hemoglobin
https://read.qxmd.com/read/38258429/identification-of-a-novel-variant-c-163delg-in-hbb-gene-resulting-in-a-beta-null-phenotype-in-a-proband-with-thalassemia-intermedia
#13
JOURNAL ARTICLE
M Mamata, G Padma, T Pragna Laxmi, K Saroja, Dalal Ashwin, Jain Suman
A 21-year-old patient presented with a previous medical history of pallor, mild icterus, increased fatigue, low hemoglobin, and abnormal hemoglobin variant analysis with more than 70 transfusions. He was referred for genetic analysis to identify the pathogenic variations in the β-globin gene. Sanger's sequencing of the proband and his family revealed the presence of a novel frame shift variant HBB:c.163delG in a compound heterozygous state with hemoglobin E (HbE) (HBB:c.79G > A) variant...
January 23, 2024: Hemoglobin
https://read.qxmd.com/read/38247354/malaria-infection-in-patients-with-sickle-cell-disease-in-nigeria-association-with-markers-of-hyposplenism
#14
JOURNAL ARTICLE
Adama Isah Ladu, Mairo Usman Kadaura, Mohammed Dauda, Abubakar Sadiq Baba, Nasir Garba Zango, Caroline Jeffery, Abubakar Farate, Adekunle Adekile, Imelda Bates
Malaria is considered an important cause of morbidity and mortality among people living with sickle cell disease (SCD). This has partly been attributed to the loss of splenic function that occurs early in the disease process. We conducted a cross-sectional study and determined the frequency of malaria infection among SCD patients and explored the association with spleen's presence on ultrasonography and spleen function assessed using the frequency of Howell-Jolly bodies (HJBs). A total of 395 participants consisting of 119 acutely-ill SCD patients, 168 steady-state SCD controls, and 108 healthy non-SCD controls were studied...
January 22, 2024: Hemoglobin
https://read.qxmd.com/read/38240123/misdiagnosis-of-%C3%AE-thalassemia-major-due-to-chinese-g-%C3%AE-a-%C3%AE-%C3%AE-%C3%AE-0-thalassemia-combined-with-%C3%AE-0-thalassemia
#15
JOURNAL ARTICLE
Li-Hong Zheng, Liang Liang, Jin-Ping Bai, Han-Xian Liao, You-Qiong Li
δβ-thalassemia is a rare type of thalassemia characterized by increased Hb F levels, including mainly Chinese G γ(A γδβ)0 -thalassemia, Yunnanese G γ(A γδβ)0 -thalassemia, Cantonese G γ(A γδβ)0 -thalassemia in China. Due to the low rate of δβ-thalassemia carriers, there are few reports of δβ-thalassemia combined with β-thalassemia causing β-thalassemia major. Herein, we described the combination of Chinese G γ(A γδβ)0 -thalassemia and β-thalassemia leading to β-thalassemia major in a Chinese patient...
January 19, 2024: Hemoglobin
https://read.qxmd.com/read/38198563/hb-mizuho-case-report-early-genomic-testing-facilitates-a-life-changing-diagnosis
#16
JOURNAL ARTICLE
Olivia Elieff, Lesley Rawlings, Cuong Pham, Samantha Mihalopoulos, Denae Henry, Keryn Simons, Heather Tapp
Unstable variant hemoglobinopathies are an uncommon cause of hemolysis in the pediatric patient and may cause a delay in diagnosis if there is not a high index of suspicion. Hemoglobin (Hb) Mizuho is a rare unstable hemoglobinopathy caused by a pathogenic variant of the HBB gene with a severe phenotype. Here we report on the first known case of Hb Mizuho in Australia, presenting with features of acute and chronic hemolysis. The morphological features on blood film review, in conjunction with biochemical findings and other clinical features, did not immediately suggest an alternative diagnosis and a Next Generation Sequencing gene analysis approach was taken to investigate genes associated with red blood cell disorders and atypical uremic syndrome...
January 10, 2024: Hemoglobin
https://read.qxmd.com/read/38192212/first-report-of-filipino-%C3%AE-0-thalassemia-%C3%AE-thalassemia-in-a-chinese-family
#17
JOURNAL ARTICLE
Meihuan Chen, Aixiang Lv, Siwen Zhang, Junhao Zheng, Min Zhang, Lingji Chen, Qianqian He, Jianlong Zhuang, Na Lin, Liangpu Xu, Hailong Huang
A pregnant woman living in Fujian Province, southeastern China, presented due to a risk of having a baby with β-thalassemia major, during her second pregnancy, since she and her husband were suspected as β-thalassemia carriers and their affected daughter was a transfusion-dependent patient. Using the common α-thalassemia and β-thalassemia genotypes test, the pregnant woman was diagnosed as a β-thalassemia carrier with βIVS-2 - 654 (C→T) /βN genotype and her daughter had a homozygosity for IVS - 2 - 654 (C→T) mutation, however, no abnormalities were detected in her husband...
January 9, 2024: Hemoglobin
https://read.qxmd.com/read/38189147/strengthening-health-system-and-community-mobilization-for-sickle-cell-disease-screening-and-management-among-tribal-populations-in-india-an-interventional-study
#18
JOURNAL ARTICLE
Bontha V Babu, Yogita Sharma, Parikipandla Sridevi, Shaily B Surti, Deepa Bhat, Manoranjan Ranjit, Godi Sudhakar, Jatin Sarmah
Sickle cell disease (SCD) affects 5% of the global population, with over 300,000 infants born yearly. In India, 73% of those with the sickle hemoglobin gene belong to indigenous tribes in remote regions lacking proper healthcare. Despite the prevalence of SCD, India lacked state-led public health programs until recently, leaving a gap in screening and comprehensive care. Hence, the Indian Council of Medical Research conducted implementation research to address this gap. This paper discusses the development and impact of the program, including screening and treatment coverage for SCD in tribal areas...
January 8, 2024: Hemoglobin
https://read.qxmd.com/read/38189099/hypercoagulability-in-sickle-cell-disease-a-thrombo-inflammatory-mechanism
#19
REVIEW
Hassan A Hamali
Sickle cell disease (SCD) is a group of inherited disorders characterized by the presence of abnormal hemoglobin S. Patients with SCD suffer from frequent episodes of anemia, chronic hemolysis, pain crisis, and vaso-occlusion. Additionally, SCD is associated with diverse and serious clinical complications, including thrombosis, which can lead to organ failure, increased morbidity, and eventually, mortality. SCD is known to be a hypercoagulable condition, and the cause of hypercoagulability is multifactorial, with the molecular basis of hemoglobin S being the main driver...
January 8, 2024: Hemoglobin
https://read.qxmd.com/read/38146675/the-spectrum-of-%C3%AE-thalassemia-mutations-in-syrian-patients
#20
JOURNAL ARTICLE
Hossam Murad, Faten Moassas, Bouthina Ali, Eiad Katranji, Yasser Mukhalalaty
α-Thalassemia (α-thal) is a globally prevalent genetic disorder of hemoglobin (Hb) structure where the rate of α-globin chain synthesis is reduced or absent due to the presence of α-globin mutation(s). The aim of this study is to define the spectrum of α-globin gene mutations and evaluate their allele frequency in a group of α-thal carriers. A total of 55 individuals with possible α-thal patients were referred from the thalassemia centers in Syria. They have unexplained hypochromia and microcytosis...
December 26, 2023: Hemoglobin
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