Hemoglobin最新文献

{"title":"δβ-Thalassemia and α-Triplication: Is Genetic Retesting Worthwhile in Case of Non-Coherent Phenotype?","authors":"Cristina Giubbilei, Simona D'Angelo, Ilaria Fotzi, Massimo Mogni, Paola Guglielmelli, Alessandro Maria Vannucchi, Valentina Carrai","doi":"10.1080/03630269.2024.2414109","DOIUrl":"10.1080/03630269.2024.2414109","url":null,"abstract":"<p><p>Thalassemia is a heterogenous group of hemoglobinopathies; intermediate thalassemia's phenotype can be very variegated due to different genetic matching. Before NGS-era, diagnosis often mismatched with phenotypes, hiding some genetic findings that nowadays could completely explain clinical presentation. In this report, we emphasize the importance of reevaluating genetic testing to achieve a correct diagnosis in case of phenotype mismatch thalassemia. Starting from a suspect of δ/β thalassemia heterozygosity, reevaluating revealed heterozygosity for α-gene triplication combined to δ and β heterozygosity, a new finding that completely suited patient's clinical manifestation. This case provided the opportunity to underline that an extended study on total globin genes is essential for correct diagnosis of thalassemia, especially when clinical onset phenotypes are more divisive and questionable at a first clinical work-up.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"349-352"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Iron Status in Sickle Cell Disease Patients During Steady State at the Center de Recherche et de Lutte contre la Drépanocytose (CRLD) Bamako.","authors":"Aldiouma Guindo, Abdulmalik Koya, Yeya Dit Sadio Sarro, Assa Badiallo Toure, Modibo Doumbia, Youssouf Traoré, Sekou Kene, A B Diarra, D A Diallo","doi":"10.1080/03630269.2024.2419889","DOIUrl":"10.1080/03630269.2024.2419889","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a prevalent inherited blood disorder arising from a single point mutation that results in substitution of valine with glutamic acid in the Beta hemoglobin chain, making red blood cells assume a banana shape under low oxygen state. It is most prevalent in sub-Saharan Africa, affecting approximately 2% of the population in Mali. This study aimed to evaluate the iron status and associated hematological parameters in SCD patients at steady state in an environment with a high prevalence of iron deficiency. A cross-sectional study was conducted at the Center de Recherche et de Lutte contre la Drépanocytose (CRLD) in Bamako, Mali, involving 757 SCD patients aged 10 to 29 years. Iron deficiency was defined as serum ferritin < 20 ng/mL, while iron overload was associated with serum ferritin > 500 ng/mL. The study population consisted of 171 (22.6%) hemolytic phenotypes (SS and Sβ⁰) and 586 (77.4%) viscous phenotypes (SC and Sβ⁺). Iron deficiency was found in 19 SCD patients (2.5%), with a higher prevalence in the SC phenotype (68.4%). All iron-deficient subjects exhibited microcytosis (MCV < 80 fL) and hypochromia (MCH < 26 pg). Hemoglobin levels < 12 g/dL were observed only in homozygous SCD patients. Low reticulocyte counts were noted in iron-deficient subjects with SC and Sβ+ phenotypes, but not in iron-deficient SS subjects. Serum C-reactive protein (CRP) was normal (< 10 mg/L) in all iron-deficient subjects, excluding iron deficiency due to chronic inflammation. Iron deficiency was observed among 2.5% of the study population, with a predominant occurrence among those with SC phenotype. All iron deficient subjects had microcytosis and hypochromia. Hemoglobin levels below 12 g/dL were only found in homozygous SCD patients. Additionally, low reticulocyte counts were noted in iron deficient patients with SC and Sβ+ phenotypes, though not in those with the SS phenotype. These findings contribute to the understanding of iron status in SCD patients in an African context and highlights the importance of monitoring iron levels in these population to prevent complications associated with iron deficiency or overload.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"314-318"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142576001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Molecular Characterization of β-Thalassemia in Kirkuk Province of Northern Iraq.","authors":"Raghad A Abbas, Riyad H Hassan, Israa M Taghlubee, Safaa I Mohammed, Huda H Mohammed, Hanan H Hasan, Ashwaq T Judi, Luqman S Ali, Wisam J Mohammed, Hiba M Shihab, Thamir A Hussein, Nawras A Al-Kareem, Meaad K Hassan, Nasir Al-Allawi","doi":"10.1080/03630269.2024.2418507","DOIUrl":"10.1080/03630269.2024.2418507","url":null,"abstract":"<p><p>To determine the prevalence and molecular basis of β-thalassemia in the Northeastern Iraqi province of Kirkuk, a total of 3954 individuals attending the provincial premarital screening center were recruited. The prevalence of β-thalassemia minor among the screened individuals was found to be 3.0%, while those of Hemoglobin E, and δβ-thalassemia carrier states were 0.05%, and 0.03% respectively. Molecular characterization of the β-thalassemia mutations was achieved by multiplex PCR and reverse hybridization, followed by next generation sequencing for those left uncharacterized by the former technique. Among 19 β-thalassemia mutations identified, seven were the most frequent, namely: IVS-II-1 (G > A), codon 8/9 (+G), IVS-I-6 (T > C), IVS-I-110 (G > A), IVS-I-I (G > A), IVS-I-5 (G > C) and codon 44 (-C) accounting for 78.5% of the mutations. This study further illustrates the heterogeneity of the spectrum of β-thalassemia in different parts of Iraq, and provides an essential step to facilitate prenatal diagnosis in the setting of a future national thalassemia prevention program.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"308-313"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"α⁰-Thalassemia Caused by a Novel α-Globin Gene Cluster Deletion (-^LB) Found in a Chinese Family.","authors":"Li-Hua Ye, Yuan-Yuan Huang, Zhi-Tai Zhu, Ai-Qiong Jiang, Xue-Lian Shen, Liang Liang, You-Qiong Li","doi":"10.1080/03630269.2024.2422425","DOIUrl":"10.1080/03630269.2024.2422425","url":null,"abstract":"<p><p>We report a novel large α-globin gene cluster deletion in a Chinese family from the Guangxi Zhuang Autonomous Regionfor the first time. The proband was a 20-year-old male who presented with microcytic hypochromatosis. Routine genetic analysis showed none of the common mutations in theα-globin and β-globin genes. Multiplex ligation-dependent probe amplification (MLPA) of the α-globin chain revealed there was a large deletion, which removed the entire <i>HBA2</i> and <i>HBA1</i> genes, <i>HBQ</i> gene, <i>HBZ</i> gene, and major regulatory element HS-40, eliminating more than 134 kb from the α-globin chain. Subsequently, pedigree analysis revealed that the proband inherited the novel deletion from his father. By consultation of literature and databases, it was confirmed as a hitherto undescribed chain deletion and named Laibin deletion (-^LB) for the origin of the proband.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"341-345"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142647298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect.","authors":"Georgios Dryllis, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Barbara Eleni Rosato, Kostas Konstantopoulos","doi":"10.1080/03630269.2024.2427187","DOIUrl":"10.1080/03630269.2024.2427187","url":null,"abstract":"<p><p>PIEZO1 (piezo-type mechanosensitive ion channel component 1) is a mechanosensitive ion channel protein. Gain-of-function variants in the <i>PIEZO1</i> gene are known to cause dehydrated hereditary stomatocytosis (DHS) also termed hereditary xerocytosis. This is a rare autosomal dominant condition characterized by variable-degree anemia with a tendency toward hemolysis, erythrocyte dehydration and iron overload. While the diagnostic workflow for DHS is well-established, diagnosis is often delayed due to overlapping clinical features with other hemolytic anemias and the pleiotropic effects of PIEZO1 variants. We describe the case of a Greek patient with a compensating hemolysis since birth. DHS diagnosis was established only after a prolonged history of repeated investigations spanning from his early life to 70 years of age, when a conclusive testing was achieved.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"357-359"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142727915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hb A₂-Pontedera [δ93(F9) Cys > Trp; <i>HBD</i>: C.282T > G]: A New δ-Globin Chain Variant Detected by Screening Tests for Hemoglobinopathies.","authors":"Massimo Maffei, Massimo Mogni, Serena Manzini, Clizia Murratzu, Elisabetta Stenner, Marcello Fiorini, Paola Bacciardi, Sauro Maoggi, Giovanni Ivaldi, Domenico Coviello","doi":"10.1080/03630269.2024.2429583","DOIUrl":"https://doi.org/10.1080/03630269.2024.2429583","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"48 5","pages":"360-363"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142835340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or <i>HBA2</i>:C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology.","authors":"Shabnam Tavassoli, Jong H Chung, Arun R Panigrahi, Azadeh Shahsavar, Ashutosh Lal, Sylvia Titi Singer","doi":"10.1080/03630269.2024.2410295","DOIUrl":"10.1080/03630269.2024.2410295","url":null,"abstract":"<p><p>We report a novel mutation on α2-globin gene leading to an elongated α-chain. This novel frameshift mutation was detected in a 13-year-old boy from Balkh province, Afghanistan. DNA analysis identified an insertion of thymine (T) at codon 132 [<i>HBA2</i>:c.396dup (p.Val134fs)]. We named the novel hemoglobin variant 'Hemoglobin Balkh' after the geographic location from which the patient originated. This novel variant was found in association with α3.7 kb α-globin gene deletion, suggesting a compound heterozygous state that contributes to the patient's clinical presentation.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"280-284"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Exome Sequencing Reveals Novel Mutations in <i>SPTB</i> Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.","authors":"Amal Chiguer, Jaber Lyahyai, Youssef El Kadiri, Imane Cherkaoui Jaouad, Yassamine Doubaj, Abdelaziz Sefiani","doi":"10.1080/03630269.2024.2360456","DOIUrl":"10.1080/03630269.2024.2360456","url":null,"abstract":"<p><p>Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of hemolytic anemia can be divided into hemoglobinopathies, membranopathies, and enzymopathies. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to congenital hemolytic anemia. To date; five genes have been associated with HS coding for cytoskeleton and transmembrane proteins, those genes are <i>SPTB, SLC4A1, EPB42, ANK1,</i> and <i>SPTA1</i>. Due to genetic heterogeneity, clinical exome sequencing (CES) was performed on four unrelated Moroccan patients referred for CHA investigation. Sanger sequencing and qPCR were performed to confirm CES results and to study the de novo character of identified variants. The molecular analysis revealed 3 novel mutations and one previously reported pathogenic variant of the <i>SPTB</i> gene confirming the diagnosis of HS in the four patients. Hereditary spherocytosis anemia is a genetically heterogenous disease which could be misdiagnosed clinically. The introduction of novel sequencing technologies can facilitate accurate genetic diagnosis, allowing an adapted care of the patient and his family.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"270-273"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel β-Globin Variant, Hb Odder [<i>HBB</i>: C.316C > G; CD105 (Leu > Val)].","authors":"Esther Agnethe Ejskjær Gravholt, Jesper Petersen, Morten Mørk, Andreas Glenthøj","doi":"10.1080/03630269.2024.2355125","DOIUrl":"10.1080/03630269.2024.2355125","url":null,"abstract":"<p><p>We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; <i>HBB</i>:c.316C > G; CD105 (Leu > Val). This variant emerged incidentally during routine HbA1c measurements for diabetes monitoring. The patient exhibited no clinical or biochemical evidence of anemia or hemolysis. Our data on this variant suggest that Hb Odder is benign, regrettably limitations in our data make formal evaluations of stability and oxygen affinity impossible; additionally this emphasizes the importance of considering hemoglobin variants in the differential diagnosis of abnormal Hb A1c levels and suggest that laboratories should use alternative methods for the correct measurement of Hb A1c when hemoglobin variants interfere with diabetes monitoring. Notably, three other mutations have been described at codon 105 of the β globin chains and correspond to three Hb variants with different characteristics: Hb South Milwaukee, Hb Bellevue IV and Hb St. George.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"250-253"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.","authors":"Cagri Coskun, Sule Unal","doi":"10.1080/03630269.2024.2386067","DOIUrl":"10.1080/03630269.2024.2386067","url":null,"abstract":"<p><p>Beta thalassemia is one of the monogenic disorders characterized by decreased production of β-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant β thalassemia due to a heterozygous mutation in exon 3 of the <i>HBB</i> gene.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"258-260"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}