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A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,HBD: C.139G > A] Hemoglobin (IF 1.0) Pub Date : 2024-03-07 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 (H...
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A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia Hemoglobin (IF 1.0) Pub Date : 2024-02-23 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 wit...
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Efficacy and Safety of a Dispersible Tablet of GPO-Deferasirox Monotherapy among Children with Transfusion-Dependent Thalassemia and Iron Overload Hemoglobin (IF 1.0) Pub Date : 2024-02-18 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 respond...
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Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia Hemoglobin (IF 1.0) Pub Date : 2024-02-15 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 sequenc...
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Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report Hemoglobin (IF 1.0) Pub Date : 2024-02-12 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 C...
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Hb Hebei [α20 (B1) His→Leu; HBA2:C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin Hemoglobin (IF 1.0) Pub Date : 2024-02-05 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...
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Ethical and Clinical Considerations in the Use of Hydroxyurea in Pregnant Women with Sickle Cell Disease Hemoglobin (IF 1.0) Pub Date : 2024-02-07 Gayatri Desai, Kapilkumar Dave, Sumeet Devare, Shrey Desai
Published in Hemoglobin: international journal for hemoglobin research (Ahead of Print, 2024)
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A 6-Year Follow-up of a Chinese Child with Homozygous β0-Thalaasemia and a Heterozygous KLF1 Mutation Hemoglobin (IF 1.0) Pub Date : 2024-02-05 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...
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Factors Associated with Overt Stroke in Children and Adolescents with Sickle Cell Disease: A Retrospective Cohort Study Hemoglobin (IF 1.0) Pub Date : 2024-01-23 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 la...
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Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia Hemoglobin (IF 1.0) Pub Date : 2024-01-23 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. ...
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Malaria Infection in Patients with Sickle Cell Disease in Nigeria: Association with Markers of Hyposplenism Hemoglobin (IF 1.0) Pub Date : 2024-01-22 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 e...
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Strengthening Health System and Community Mobilization for Sickle Cell Disease Screening and Management among Tribal Populations in India: An Interventional Study Hemoglobin (IF 1.0) Pub Date : 2024-01-22 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 re...
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Hypercoagulability in Sickle Cell Disease: A Thrombo-Inflammatory Mechanism Hemoglobin (IF 1.0) Pub Date : 2024-01-22 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, pai...
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The Spectrum of α-Thalassemia Mutations in Syrian Patients Hemoglobin (IF 1.0) Pub Date : 2024-01-22 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...
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Adherence to Iron Chelation Therapy Among Children with Beta Thalassemia Major: A Multicenter Cross-Sectional Study Hemoglobin (IF 1.0) Pub Date : 2024-01-22 Thamron Keowmani, Siew Chin Teo, Kuan Chau Yap, Wei Lian Chua, Nur Farahanim Mohd Tahir, Peck Wei Chua, V Co Lim, Hoon Hing Leong
Adherence to iron chelation therapy (ICT) remains an issue among thalassemia patients. This study aimed to determine the prevalence of non-adherence to ICT among children with beta thalassemia majo...
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The Prevalence of Obstructive Sleep Apnea and Associated Symptoms among Patients with Sickle Cell Disease: A Systematic Review and Meta-analysis Hemoglobin (IF 1.0) Pub Date : 2024-01-22 Ehsan Taherifard, Erfan Taherifard, Mahnaz Hosseini-Bensenjan, Mehrab Sayadi, Sezaneh Haghpanah
Previous studies have shown that patients with sickle cell disease (SCD) are at high risk for obstructive sleep apnea (OSA). In the current study, we aimed to systematically review the literature t...
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Misdiagnosis of β-Thalassemia Major Due to Chinese Gγ+(Aγδβ)0-Thalassemia Combined with β0-Thalassemia Hemoglobin (IF 1.0) Pub Date : 2024-01-19 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 Gγ(Aγδβ)0-thalassemia, Yunnanese Gγ(Aγδβ)0-thalassemia, Cantonese Gγ(Aγδβ)0-thalassemia...
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Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis Hemoglobin (IF 1.0) Pub Date : 2024-01-10 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 ...
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First Report of Filipino β0-Thalassemia/β-Thalassemia in a Chinese Family Hemoglobin (IF 1.0) Pub Date : 2024-01-09 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 suspec...
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Current Status of β-Thalassemic Burden in India Hemoglobin (IF 1.0) Pub Date : 2023-12-07 Pratik Singh, Samir Shaikh, Sagar Parmar, Reeshu Gupta
Thalassemia is a major public health concern in India. The thalassemic burden in India is high, with an estimated 100,000 patients diagnosed with β-thalassemia syndrome. However, the exact number i...
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Prevalence, Severity, and Determinants of Pain in Thalassemia Hemoglobin (IF 1.0) Pub Date : 2023-12-07 Amanat Grewal, Shruti Kakkar, Priyanka Dewan, Namita Bansal, Praveen C Sobti, Perla Eleftheriou
As the life expectancy in thalassemia is improving, pain is being recognized as an emerging problem. To document the pain prevalence and severity in patients with transfusion-dependent thalassemia ...
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Silent Cerebral Infarcts in Iraqi Patients with Sickle Cell Disease Hemoglobin (IF 1.0) Pub Date : 2023-12-07 Noor W. Rashid, Nasir Al-Allawi, Hamdy I. Tahir
Silent ischemic infarcts have been reported to be the most frequent neurological abnormalities in sickle cell disease (SCD) in several studies worldwide. However, no previous studies investigated t...
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A New Hemoglobin Variant: Hb Tangshan [HBA1: c.239C > T, CD79(GCG > GTG)(Ala > Val)] Detected by MALDI-TOF MS Hemoglobin (IF 1.0) Pub Date : 2023-12-07 Anping Xu, Song Ge, Yueying Huang, Weijie Xie, Yinghui Ye, Cheng Lin, Ling Ji
In this report we decribed a new α-chain variant found during the measurement of hemoglobin A1c (Hb A1c) using matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectromet...
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Development of a Quantitative Multiplex PCR to Detect Three Common Alpha Thalassemia Deletions Hemoglobin (IF 1.0) Pub Date : 2023-11-03 Zahra Hajimohammadi, Sara Alimohammadi-Bidhendi, Fahimeh Bagheri Amiri, Morteza Karimipoor, Elham Davoudi-Dehaghani, Mona Entezam
Alpha thalassemia is an autosomal recessive genetic disorder with a high prevalence in the Middle East. The severe form of alpha-thalassemia is incompatible with life and can cause significant obst...
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Submitting Novel Globin Gene Variants to Hemoglobin Hemoglobin (IF 1.0) Pub Date : 2023-11-03 Cornelis L. Harteveld, George P. Patrinos, Joanne Traeger-Synodinos, Petros Kountouris, Celeste Bento, Adekunle Adekile
Published in Hemoglobin: international journal for hemoglobin research (Vol. 47, No. 4, 2023)
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A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)] Hemoglobin (IF 1.0) Pub Date : 2023-11-03 Anne Rudbeck Juhl, Jens Helby, Amina Nardo-Marino, Jesper Petersen, Elin Ellebæk Petersen, Kristoffer Neldeborg Jensen, Pal Bela Szecsi, Palle S. Bratholm, Tobias Wang, Andreas Glenthøj
We present a new hemoglobin variant, Hb Raklev, characterized by the substitution of leucine with glutamine at position 75 in the β-globin chain. This variant was discovered inadvertently during an...
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β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report Hemoglobin (IF 1.0) Pub Date : 2023-11-03 Zhi-Qing Xiao, Fan Jiang, Dong-Zhi Li
We identified a novel mutation in the SUPT5H gene in a Chinese female who presented with a β-thalassemia trait. The substitution of c.193C > T (p.Arg65*) leads to a premature stop codon on residue ...
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Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report Hemoglobin (IF 1.0) Pub Date : 2023-11-03 Wenqian Zhang, Xiaoqiang Han, Jie Deng, Rui Zhou, Xiaoyun Du, Cheng Wu, Mingqun Li
We reported the identification of two rare α-thalassemia silent carriers with novel HBA1 mutations of CD 39 -C [Thr > Pro] (HBA1: c.114del; p.Thr39Profs*11) and CD 109 ACC > CCC [Thr > Pro] (HBA1: ...
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Hemoglobin β-Globin Variants In Hispanic Patients: An Institutional Experience From Dallas, Texas Hemoglobin (IF 1.0) Pub Date : 2023-11-03 Mihail Firan, Charles F Timmons, Jason Y Park, Midori Mitui MHA, Hung S Luu
Hemoglobinopathies are the most common single-gene disorders in humans. There are 1,424 variants of human hemoglobin described with 951 involving the β-globin gene. Ancestry and geography play a si...
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Effect of Hydroxyurea Therapy on Growth Parameters in Older Children (6-15 Year-Old) with Sickle Cell Disease: Low Dose Versus High Dose Hemoglobin (IF 1.0) Pub Date : 2023-09-10 Doaa Khater, Sharef Al-Mulaabed, Anwar Alomairi, Mohamed Elshinawy, Ashraf Soliman, Noor Elshinawy, Yasser Wali, Saif AL Yaarubi
Growth impairment is a known complication of sickle cell disease (SCD). Few studies explored the potential effects of hydroxyurea (HU) on growth in children with SCD in relation to HU dose and resp...
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Mutation Spectrum of β-Globin Gene in Patients with β-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia Hemoglobin (IF 1.0) Pub Date : 2023-08-22 Nafis Muhimmatul ‘Ulya, Vera Nurohmah Indrawati, Woro Triaksiwi Wulansari, Indra Lesmana, Niken Satuti Nur Handayani
β-Thalassemia is genetic disorder characterized by β-globin chain deficiency resulting from mutations in the β-globin coding gene. Both the quantity and quality of blood produced will be impacted b...
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Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation Hemoglobin (IF 1.0) Pub Date : 2023-08-22 Ayşen Türedi Yıldırım, Hüseyin Gülen, Hülya Türkmen, Gülcihan Özek, Yeşim Oymak, Burak Durmaz, Emin Karaca
Hemoglobin (Hb) Hammersmith, formed by serine substitution for phenylalanine at residue 42 in the beta-globin chain, is a very rare variant of unstable hemoglobin with low oxygen affinity. For pati...
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The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran Hemoglobin (IF 1.0) Pub Date : 2023-08-07 Niloofar Bazazzadegan, Seyedeh Sedigheh Abedini, Azita Azarkeivan, Susan Banihashemi, Nooshin Nikzat, Hossein Najmabadi, Maryam Neishabury
Beta Thalassemia is the most prevalent and well-studied single gene disorder in Iran. Here, we investigated the spectrum of HBB gene mutations, identified among 2315 patients, referred to a referen...
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Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq Hemoglobin (IF 1.0) Pub Date : 2023-08-02 Shaima Al-Zebari, Nasir AS Al-Allawi, Farida Nerweyi
Abstract β-thalassemia is a prevalent inherited red cell disorder in the Kurdistan region of Iraq. To determine the chromosomal background of the frequent β-thalassemia mutations in the latter region, we investigated the β-globin gene cluster haplotypes in 202 β-thalassemia chromosomes. Haplotypes analysis utilized restriction fragment length polymorphism-PCR of seven restriction sites through the
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COVID-19 and Anemia: What Do We Know So Far? Hemoglobin (IF 1.0) Pub Date : 2023-07-31 Luai Abu-Ismail, Mohammad J. J. Taha, Mohammad T. Abuawwad, Yaqeen Al-Bustanji, Khayry Al-Shami, Abdulqadir Nashwan, Mohamed Yassin
Abstract On 11 March 2020, the World Health Organization (WHO) declared the novel SARS-CoV-2 virus responsible for causing COVID-19, a global pandemic. The virus primarily targets the respiratory system but can also affect other systems, notably causing hematological pathologies. Anemia, a common hematologic disorder, is characterized by the reduced oxygen-carrying capacity of red blood cells. The
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A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population Hemoglobin (IF 1.0) Pub Date : 2023-07-28 Ya-ping Chen, Peng Wu, Heng Wang, Jiang-fen Wu, Dan Xie, Lei Wang, Bangquan An, Shengwen Huang
Abstract A 6-month-old female infant presented with unexplained hemolytic anemia, showing no abnormalities by capillary electrophoresis and genetic testing for α- and β-thalassemia mutations that are commonly seen in the Chinese population. A rare Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu- Pro] variant was identified by next-generation sequencing (NGS) and verified by Sanger sequencing. Hb Mizuho:
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Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr) Hemoglobin (IF 1.0) Pub Date : 2023-07-28 Rawand Shamoon, Ahmed Yassin, Amir Charkaneh
Abstract β-thalassemia is one of the most common inherited autosomal disorders in the northern Iraqi Kurdistan region. This study reports a rare mutation in the initiation codon of the β-globin gene (HBB: c.2T > C; p.Met1Thr) in an 11-year-old male with severe transfusion-dependent β-thalassemia. Molecular testing to uncover the mutations of the β-globin gene in the proband and his parents was performed
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Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India Hemoglobin (IF 1.0) Pub Date : 2023-06-29 Ranjeet Kumar, Syed Abrar Ahmad, Mustafa Ozdemir, Sakthivel Sadayappan, Varsha Wankhade
Abstract Beta-thalassemia is the most common inherited single-gene disorder in the world, caused by more than 200 known mutations in the HBB gene. In India, the average prevalence of β-thalassemia carriers is 3-4%. Several ethnic groups have a much higher prevalence, about 8% in the tribal groups, according to the 2011 census. The study’s main goal is to identify common β-thalassemia mutations and
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Case Fatality Rate and Severity of COVID-19 among Patients with Sickle Cell Disease: A Systematic Review and Meta-Analysis Hemoglobin (IF 1.0) Pub Date : 2023-06-16 Tarcísio Silva Borborema, Julio Cesar Moreira Brito, Edleusa Marques Lima Batista, Rodrigo Siqueira Batista
Abstract The sickle cell disease (SCD) population has been considered particularly vulnerable to viral pandemics since the emergence of H1N1 in 2009. In this sense, the advance of the COVID-19 pandemic from 2020 has brought this group of patients to the center of concern. However, scientific knowledge about the susceptibility of patients with SCD to a severe COVID-19 pandemic is still insufficient
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An Expert Overview on Therapies in Non-Transfusion-Dependent Thalassemia: Classical to Cutting Edge in Treatment Hemoglobin (IF 1.0) Pub Date : 2023-06-16 Mohammadreza Saeidnia, Pooria Fazeli, Arghavan Farzi, Maryam Atefy Nezhad, Mojtaba Shabani-Borujeni, Mehran Erfani, Gholamhossein Tamaddon, Mehran Karimi
Abstract The thalassemia issue is a growing worldwide health concern that anticipates the number of patients suffering from the disease will soon increase significantly. Patients with β-thalassemia intermedia (β-TI) manifest mild to intermediate levels of anemia, which is a reason for it to be clinically located between thalassemia minor and β-thalassemia major (β-TM). Notably, the determination of
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Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations Hemoglobin (IF 1.0) Pub Date : 2023-06-12 Yuling Qiu, Shilu Wei, Wei Hou, Ketong Lai, Hengying Zhu, Wenwei Li, Qi Li, Zheng Yang, Qisheng Shu, Ping Chen, Wuning Mo
Abstract In area where α-thalassemia and β-thalassemia are prevalent, the coinheritance of hemoglobin H disease (Hb H disease) and β-thalassemia are not uncommon and could result in complex thalassemia intermedia syndromes. In this study, we investigate the hematological and molecular characteristics of two previously undescribed cases that co-inherited Hb H disease and rare β-globin gene (HBB) mutations
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Novel Insights into the Pathophysiology and Treatment of Sickle Cell Disease Hemoglobin (IF 1.0) Pub Date : 2023-06-12 Aderson da Silva Araújo, Ana Cristina Silva Pinto, Clarisse Lopes de Castro Lobo, Maria Stella Figueiredo, Sandra Fátima Menosi Gualandro, Sara Teresinha Olalla Saad, Rodolfo Delfini Cancado
Abstract The polymerization of hemoglobin under deoxygenation is the main pathophysiological event in sickle cell diseases, described more than 70 years ago. The last two decades have seen a major increase in knowledge about the cascade of events that follow the polymerization of hemoglobin and the ensuing sickling of red blood cells. Several distinctive therapeutic targets have been discovered as
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Fetal Hemoglobin H Hydrops Fetalis: Another Three Case Reports Hemoglobin (IF 1.0) Pub Date : 2023-05-29 Hai-Shen Tang, Yi Xiong, Dong-Zhi Li
Abstract We report three cases of fetalis hydrops associated with nondeletional α-thalassemia. Two cases were caused by hemoglobin (Hb) H-Quong Sz disease, and one caused by homozygous Hb Constant Spring. Fetal hydrops occurred in the late second trimester in all three cases. Our study indicates that for pregnancies at risk for fetal nondeletional Hb H disease, strict ultrasound follow-up is particularly
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Research Progress of Cell-Free Fetal DNA in Non-Invasive Prenatal Diagnosis of Thalassemia Hemoglobin (IF 1.0) Pub Date : 2023-05-29 Dewen Liu, Chen Nong, Fengming Lai, Yulian Tang, Taizhong Wang
Abstract Thalassemia is a genetic disease that seriously affects the health of the fetus. At present, invasive prenatal diagnosis is the main method of thalassemia screening, but invasive prenatal diagnosis has the risk of fetal abortion. The discovery of cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women provides the possibility for non-invasive prenatal diagnosis (NIPD). Rapid
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Identification of a Novel 7-bp Deletion in the α-Globin Gene Cluster in One Chinese Family Hemoglobin (IF 1.0) Pub Date : 2023-05-29 Bo-Dan Wu, Xiao-Yan Zhou, Mei-Juan Xie, Chan-Chan Jin, Yuan-Long Yan, Jing He, Bao-Sheng Zhu, Jie Zhang
Abstract Deletional α-thalassemia is characterized by reduced hemoglobin A2 and involves the deletion of a few nucleotides, which is a rare hereditary disease. However, the detection of rare mutations using commonly used genetic tests is highly challenging. In the present study, next-generation sequencing (NGS) was used to identify a novel 7-bp deletion α-thalassemia in one individual from a Chinese
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A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous β0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype Hemoglobin (IF 1.0) Pub Date : 2023-05-17 Ju Long, Feifei Gong, Lei Sun, Chunhui Yu, Enqi Liu
To assess the effectiveness of three-level prevention and control of thalassemia, we routinely collect samples from transfusion-dependent individuals and perform genetic analysis. Here, we report o...
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Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25 Hemoglobin (IF 1.0) Pub Date : 2023-05-17 Ekaterina Demidova, Valentina Salomashkina, Daria Selivanova, Evgeny Litvin, Natalia Karamyan, Svetlana Mann, Valentina Dvirnyk, Salia Maryina, Natal’ya Petrova, Lana Gorgidze, Anastasiya Peredel’skaya, Nina Tsvetaeva, Nataliya Smetanina, Vadim Surin
Abstract We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene (HBB): NM_000518:c.396delG. This variant causes an emergence of alternative amino acid sequence starting at codon 133 and a new stop codon formed in the 3′ untranslated region (3′UTR) of the HBB gene at amino acid position 158. This β-globin gene variant
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Polyneuropathy Associated with Age of Starting the Transfusion and Serum Ferritin Level in Iranian Patients with Thalassemia Major and Intermedia Hemoglobin (IF 1.0) Pub Date : 2023-05-15 Aziz Eghbali, Kazem Ghaffari, Roya shaykh Baygloo, Aygin Eghbali, Ali Ghasemi
Abstract Considering the importance of managing patients with β-thalassemia and the importance of early detection of disease complications, we examined the rate of sensorimotor neuropathy in patients with β-thalassemia and the risk factors related to it. This cross-sectional study included 44 blood transfusion-dependent β-thalassemia patients aged 5 years and older. Nerve conduction studies (NCSs)
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Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey Hemoglobin (IF 1.0) Pub Date : 2023-05-15 Gonul Seyda Seydel, Durmus Ayan, Tevfik Balci, Muhammet Bayraktar, Inayet Gunturk
Abstract Hemoglobinopathies are one of the most widespread hereditary disorders in Turkey. The present study aimed to determine the prevalence of hemoglobinopathies in the Nigde province of Turkey. This study was conducted with 2013 individuals who applied for the premarital screening, between January 2019 and December 2021. The complete blood count was measured by an automated hematology analyzer
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Editorial Hemoglobin (IF 1.0) Pub Date : 2023-05-10 Adekunle D. Adekile
Published in Hemoglobin: international journal for hemoglobin research (Vol. 47, No. 1, 2023)
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Analysis of Mean Corpuscular Volume and Red Cell Distribution Width in Patients with Aplastic Anemia Hemoglobin (IF 1.0) Pub Date : 2023-05-10 Lingling Liu, Qiuhao Fu, Danfeng Zhang, Dandan Chen, Fang Wang, Rong Guo, Xinsheng Xie, Zhongxing Jiang, Jifeng Yu, Yingmei Li
Abstract To explore the characteristics of hemogram in patients with aplastic anemia (AA), especially mean corpuscular volume (MCV) and red cell distribution width (RDW). We examined the blood routine of 180 new-onset AA patients and used 166 patients with myelodysplastic syndrome (MDS) as controls. Among the 180 AA patients, 105 (58.3%) were diagnosed with severe AA (SAA), while 75 (41.7%) were diagnosed
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Effect of α+ Thalassemia on the Severity of Plasmodium falciparum Malaria in Different Sickle Cell Genotypes in Indian Adults: A Hospital-Based Study Hemoglobin (IF 1.0) Pub Date : 2023-04-26 Prasanta Purohit, Pradeep Kumar Mohanty, Jogeswar Panigrahi, Kishalaya Das, Siris Patel
Abstract There is a paucity of literature on the association of α+-thalassemia, sickle-cell hemoglobin disorders, and malaria in India. This study aimed to understand the effect of α+-thalassemia on the severity of Plasmodium falciparum malaria in adults with respect to sickle-cell genotypes. The study subjects were categorized into ‘severe-malaria’ and ‘uncomplicated-malaria’ and age-gender matched
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Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese Hemoglobin (IF 1.0) Pub Date : 2023-04-24 Wenjuan Wang, Zixuan Ding, Airui Jiang, Suning Chen, Huanju Han
Abstract We have identified a variant on the β-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[β42(CD1) Phe→Leu, HBB:c.129T > A] which has been named Hb Suqian for where the proband was born.
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α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh Hemoglobin (IF 1.0) Pub Date : 2023-03-08 Tamanna Kabir, Saeed Anwar, Jarin Taslem Mourosi, Shanjida Akter, Mohammad Jakir Hosen
Abstract Hemoglobinopathies, including α- and β-thalassemias and sickle cell disease, are among the most widely disseminated hereditary blood disorders worldwide. Bangladesh is considered a hotspot for hemoglobinopathies, and these diseases cause a significant health concern in the country. However, the country has a dearth of knowledge on the molecular etiology and carrier frequency of thalassemias
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Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China Hemoglobin (IF 1.0) Pub Date : 2023-03-03 Lei Pan, Peirun Tian, Shiping Chen, Rui Zhang
Abstract Here we report a novel β-globin gene mutation in the promoter (HBB:c.-139_-138delAC) detected by next-generation sequencing (NGS). The proband was a 28-year-old Chinese male, living in Shenzhen City, Guangdong Province, who originates from Hunan Province. The red cell indices were almost normal, with a slightly decreased Red Cell volume Distribution Width(RDW). Capillary electrophoresis (CE)
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Estimating the Cost of Thalassemia Care across the World: A Thalassemia International Federation Model Hemoglobin (IF 1.0) Pub Date : 2023-02-27 Androulla Eleftheriou, Eleni Antoniou, Josep Darbà, Meritxell Ascanio, Michael Angastiniotis, Dimitrios Farmakis
Abstract Estimating the cost of thalassemia care is important for the optimization of care planning, resource allocation and the empowerment of patient advocacy. However, available evidence is heterogeneous, reflecting diverse healthcare systems and cost estimation methods. We sought to build a globally applicable cost model for thalassemia care. We followed a three-step approach, including (i) a targeted
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Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene Hemoglobin (IF 1.0) Pub Date : 2023-02-27 Sogol Targholi, Zahra Noormohammadi, Elham Tafsiri, Morteza Karimipoor
Abstract β-Thalassemia (β-thal) is an inherited genetic disease that occurs because of the absence or reduction of β-globin chain synthesis. Genetic changes occur in different regions of the β-globin gene, but these mutations are less reported in the 3' untranslated region (3'-UTR). The objective of the present investigation was to evaluate the functional effect of a rare variant in the 3'-UTR of the
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Hb Nivaria: A New Hemoglobin Variant with a Shortened α-Globin Chain [α139(HC1)Lys→Stop; HBA1: c.418A>T] Hemoglobin (IF 1.0) Pub Date : 2023-02-27 Paloma Ropero Gradilla, José María Raya, Fernando Ataúlfo González, Sara Rochas, Sara Ferrer-Benito, Jorge M. Nieto, Taida Martín-Santos, Marcelo Barrios, Lorena Gutiérrez-Murillo, Ana Villegas, Celina Benavente
Abstract We report a novel hemoglobin (Hb) variant found in a Spanish individual from Santa Cruz de Tenerife, the Canary Islands in Spain. The proband was a 39-year-old male. High performance liquid chromatography (HPLC) displayed an unknown peak (19.3%) at a retention time of 1.3 min. eluting before Hb A0. Capillary zone electrophoresis (CZE) showed an abnormal peak (20.0%) in zone 12. Direct DNA
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Severe Hb H Disease Caused by Hb Zürich–Albisrieden (HBA1: c.178G>C): Another Case Report Hemoglobin (IF 1.0) Pub Date : 2023-02-23 Shao-Min Wu, Su-Ran Huang, Chan Li, Gui-Lan Chen, Dong-Zhi Li
Abstract Hb Zürich–Albisrieden, [α59(E8)Gly→Arg, HBA1: c.178G>C] is a rare and highly unstable α-globin chain variant. The involved mutation has been reported in both HBA1 and HBA2 genes. A few compound heterozygotes of Hb Zürich–Albisrieden and α0-thalassemia have shown that this variant is associated with severe Hb H disease. We describe here another case of Hb Zürich–Albisrieden who presented with
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Genotype-Phenotype Study of β-Thalassemia Patients in Sabah Hemoglobin (IF 1.0) Pub Date : 2023-02-23 Latifah Suali, Falah Abass Mohammad Salih, Mohammad Yusof Ibrahim, Mohammad Saffree Bin Jeffree, Fiona Macniesia Thomas, Fong Siew Moy, Yap Shook Fe, Emma Suali, Suhaini Sudi, Caroline Sunggip
Abstract β-thalassemia is a serious public health problem in Sabah due to its high prevalence. This study aimed to investigate the effects of different types of β-globin gene mutations, coinheritance with α-globin gene mutations, XmnI-Gγ, and rs368698783 polymorphisms on the β-thalassemia phenotypes in Sabahan patients. A total of 111 patients were included in this study. The sociodemographic profile