Hemoglobin最新文献_第9页

Hemoglobin β-Globin Variants In Hispanic Patients: An Institutional Experience From Dallas, Texas. 西班牙裔患者的血红蛋白β-球蛋白变异：来自德克萨斯州达拉斯的机构经验。

IF 1 4区医学

Hemoglobin Pub Date : 2023-11-01 Epub Date: 2023-11-03 DOI: 10.1080/03630269.2023.2263356

Mihail Firan, Charles F Timmons, Jason Y Park, Midori Mitui Mha, Hung S Luu

{"title":"Hemoglobin β-Globin Variants In Hispanic Patients: An Institutional Experience From Dallas, Texas.","authors":"Mihail Firan, Charles F Timmons, Jason Y Park, Midori Mitui Mha, Hung S Luu","doi":"10.1080/03630269.2023.2263356","DOIUrl":"10.1080/03630269.2023.2263356","url":null,"abstract":"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 significant role in the incidence and nature of hemoglobinopathies, with African, Asian, and Mediterranean populations and their descendants being amongst the most affected. Investigation of variants in individuals of Hispanic descent is needed to reflect the changing demographics of the United States. Hemoglobin β-globin evaluation through gel electrophoresis, high-performance liquid chromatography, and HBB gene sequencing was performed on patients from Texas hospitals between 2010 and 2015 and demographic parameters (age, sex, ethnicity) was subsequently analyzed. A total of 846 patients underwent hemoglobinopathy evaluation. A β chain variant was detected in 628 of the 846 total patients. Hispanic patients represented 37% (314/846 patients), which were equally distributed between females (50%; 156/314) and males (50%; 156/314). A β-globin chain variant was found in 67% of Hispanic patients with a distribution across 10 variants seen in greater than 1% of patients. For hemoglobin variants, an understanding of the regional and ethnic prevalence will improve patient care through more effective screening and identification of the variant, early diagnosis, and appropriate treatment if necessary, and better genetic counseling.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"167-171"},"PeriodicalIF":1.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41127935","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}

引用次数: 0

β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report. SUPT5H缺陷引起的β-地中海贫血：另一例报告。

IF 1 4区医学

Hemoglobin Pub Date : 2023-11-01 Epub Date: 2023-11-03 DOI: 10.1080/03630269.2023.2265294

Zhi-Qing Xiao, Fan Jiang, Dong-Zhi Li

引用次数: 0

Current Status of β-Thalassemic Burden in India. 印度β-地中海贫血负担现状。

IF 1 4区医学

Hemoglobin Pub Date : 2023-09-01 Epub Date: 2023-12-07 DOI: 10.1080/03630269.2023.2269837

Pratik Singh, Samir Shaikh, Sagar Parmar, Reeshu Gupta

{"title":"Current Status of β-Thalassemic Burden in India.","authors":"Pratik Singh, Samir Shaikh, Sagar Parmar, Reeshu Gupta","doi":"10.1080/03630269.2023.2269837","DOIUrl":"10.1080/03630269.2023.2269837","url":null,"abstract":"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 is unknown because of the absence of National Registries for patients. India alone contributes to approximately 25% of the global β-thalassemia burden. A possible option to control this burden is to endorse education and awareness programs, compulsory prenatal screening, and develop suitable facilities for genetic counseling, and availability of cost-effective diagnostic tests in India, especially in rural areas. In addition to the various clinical complications associated with thalassemia, lifelong intervention creates mental and physical trauma in patients and their relatives. Government and nongovernment organizations have initiated screening programs to prevent thalassemia. However, prenatal screening is not mandatory, and the reachability of screening programs in rural areas is yet to begin. This review article will discuss the progress in thalassemia research in India, including its prevalence, spectrum of β-thalassemia mutations, preventive and therapeutic measures, and awareness programs. More importantly, we will discuss the need and roadmap to strengthen prevention programs in India.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"181-190"},"PeriodicalIF":1.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72014054","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}

引用次数: 0

Prevalence, Severity, and Determinants of Pain in Thalassemia. 地中海贫血患者疼痛的患病率、严重程度和决定因素。

IF 1 4区医学

Hemoglobin Pub Date : 2023-09-01 Epub Date: 2023-12-07 DOI: 10.1080/03630269.2023.2269846

Amanat Grewal, Shruti Kakkar, Priyanka Dewan, Namita Bansal, Praveen C Sobti, Perla Eleftheriou

{"title":"Prevalence, Severity, and Determinants of Pain in Thalassemia.","authors":"Amanat Grewal, Shruti Kakkar, Priyanka Dewan, Namita Bansal, Praveen C Sobti, Perla Eleftheriou","doi":"10.1080/03630269.2023.2269846","DOIUrl":"10.1080/03630269.2023.2269846","url":null,"abstract":"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 all transfusion-dependent thalassemia patients >10 years of age (n = 165) attending the Thalassemia Day Care Center were assessed for pain prevalence, severity, and its effect on various life activities using the Brief Pain Inventory. Their medical records were reviewed for the presence of various co-morbidities. Pain was reported by 62.4% of participants with 35.2% and 59.4% of participants, reporting pain in the past 1 and 4 weeks respectively. A significantly higher pain prevalence was reported in females (p = .037), patients residing in urban areas (p = .038), and employed participants (p = .038). The commonest sites of pain were the lower back and calves. General activity (p = .02) and enjoyment of life (p = .02) were significantly affected due to pain in patients between 21 and 30 years of age. Female participants reported interference of pain with mood (p = .03). A significant correlation of pain prevalence was found with higher average serum ferritin (p = .015), moderate to severe liver iron concentration (p = .04), and lower levels of 25 hydroxyvitamin D levels (p = .03). Pain is an emerging cause of morbidity in thalassemia. The study found a significant association of pain with modifiable factors such as serum ferritin, LIC, and 25 (OH) vitamin D levels.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"191-197"},"PeriodicalIF":1.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138046762","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}

引用次数: 0

A New Hemoglobin Variant: Hb Tangshan [HBA1: c.239C > T, CD79(GCG > GTG)(Ala > Val)] Detected by MALDI-TOF MS. 一种新的血红蛋白变体：Hb唐山[HBA1:c.239C > T、 CD79（GCG > GTG）（Ala > Val）]通过MALDI-TOF MS检测。

IF 1 4区医学

Hemoglobin Pub Date : 2023-09-01 Epub Date: 2023-12-07 DOI: 10.1080/03630269.2023.2277445

Anping Xu, Song Ge, Yueying Huang, Weijie Xie, Yinghui Ye, Cheng Lin, Ling Ji

引用次数: 0

Silent Cerebral Infarcts in Iraqi Patients with Sickle Cell Disease. 伊拉克镰状细胞病患者的无症状性脑梗死

IF 1 4区医学

Hemoglobin Pub Date : 2023-09-01 Epub Date: 2023-12-07 DOI: 10.1080/03630269.2023.2282017

Noor W Rashid, Nasir Al-Allawi, Hamdy I Tahir

{"title":"Silent Cerebral Infarcts in Iraqi Patients with Sickle Cell Disease.","authors":"Noor W Rashid, Nasir Al-Allawi, Hamdy I Tahir","doi":"10.1080/03630269.2023.2282017","DOIUrl":"10.1080/03630269.2023.2282017","url":null,"abstract":"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 this neurological disorder in Iraqi SCD patients. To address this issue, a total of 52 patients with a median age of 20 years (range 10-46) and including 46.2% males were enrolled. Patients were clinically evaluated and their records were reviewed. They had full blood and reticulocyte counts, hemoglobin F estimation, serum lactic dehydrogenase and bilirubin assayed, as well as brain magnetic resonance imaging (MRI) to screen for silent cerebral infarcts. Six out of the 52 patients (11.5%) had silent cerebral infarcts, all of which were in the deep white matter, ranging from 6 to 10 mm in their largest diameters. There were no significant differences in age, sex, or sickle cell genotype between those with silent cerebral infarcts and those without it. Those with silent cerebral infarcts had lower median hemoglobin, higher reticulocytes and lower pain frequencies than those without it, yet again this was not significant. Follow up MRI in four out of the six silent infarct patients showed no additional lesions and no increase in size of the original ones after six to eight months. In conclusion, it appears that the frequency of silent cerebral infarcts in Iraqi SCD patients is lower than the bulk of the literature from other populations. Further studies to screen for genetic polymorphisms that may explain this lower rate may be informative.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"198-201"},"PeriodicalIF":1.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138046763","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}

引用次数: 0

COVID-19 and Anemia: What Do We Know So Far? COVID-19和贫血:到目前为止我们知道什么?

IF 1 4区医学

Hemoglobin Pub Date : 2023-05-01 DOI: 10.1080/03630269.2023.2236546

Luai Abu-Ismail, Mohammad J J Taha, Mohammad T Abuawwad, Yaqeen Al-Bustanji, Khayry Al-Shami, Abdulqadir Nashwan, Mohamed Yassin

{"title":"COVID-19 and Anemia: What Do We Know So Far?","authors":"Luai Abu-Ismail, Mohammad J J Taha, Mohammad T Abuawwad, Yaqeen Al-Bustanji, Khayry Al-Shami, Abdulqadir Nashwan, Mohamed Yassin","doi":"10.1080/03630269.2023.2236546","DOIUrl":"https://doi.org/10.1080/03630269.2023.2236546","url":null,"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 existing literature has a suspected link between anemia and severe COVID-19 cases. Researchers are currently investigating the long-term complications of COVID-19 in anemic patients, as these complications may play a crucial role in predicting patient prognosis. Anemic individuals are at a higher risk of experiencing severe COVID-19 infections due to several contributing pathophysiological mechanisms, including thrombotic, hemorrhagic, and autoimmune etiologies. The primary effect of these mechanisms is a decrease in circulating hemoglobin levels, reducing oxygen availability for cells. This exacerbates the hypoxia caused by COVID-19-induced acute respiratory distress syndrome (ARDS). This review offers a comprehensive overview of the evidence regarding the long-term complications of COVID-19 in anemic patients.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 3","pages":"122-129"},"PeriodicalIF":1.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9948030","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}

引用次数: 1

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. 罕见的异常血红蛋白变异Hb Mizuho: [HBB: C . 206t > C β 68(E12) Leu-Pro]:中国人群的首次报道。

IF 1 4区医学

Hemoglobin Pub Date : 2023-05-01 DOI: 10.1080/03630269.2023.2231851

Ya-Ping Chen, Peng Wu, Heng Wang, Jiang-Fen Wu, Dan Xie, Lei Wang, Bangquan An, Shengwen Huang

引用次数: 0

Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq. 伊拉克库尔德斯坦地区β -地中海贫血的β -珠蛋白基因簇单倍型研究

IF 1 4区医学

Hemoglobin Pub Date : 2023-05-01 DOI: 10.1080/03630269.2023.2235278

Shaima Al-Zebari, Nasir As Al-Allawi, Farida Nerweyi

{"title":"Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq.","authors":"Shaima Al-Zebari, Nasir As Al-Allawi, Farida Nerweyi","doi":"10.1080/03630269.2023.2235278","DOIUrl":"https://doi.org/10.1080/03630269.2023.2235278","url":null,"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 β-globin gene cluster. It was observed that IVS-II-1 (G > A) was mainly associated with haplotype III (68.8%), IVS-1-110 (G > A), codon 8/9 (+G) and codon 44 (-C) with haplotype I (in 90.0%, 100%, and 62.5% respectively), IVS-1-6 (T > C) with haplotype VI (97.4%), codon 8 (-AA) with haplotype IV (75%), codon 5(-CT) and IVS1.1 (G > A) with haplotype V (55.6% and 58.3% respectively), while codon 39 (C > T) and IVS1.5 (G > C) were mainly associated with haplotype VII (85.7% and 75% respectively). These observations support the notion that while some mutations may have originated in the Kurdistan region, others were more likely brought in by gene flow from neighboring countries or the Indian subcontinent. The association of some β-thalassemia defects with more than one haplotype may be due to mutations or recombination events.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 3","pages":"111-117"},"PeriodicalIF":1.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9942334","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}

引用次数: 0

Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr). β-珠蛋白基因起始密码子罕见突变(HBB:C. 2t > C)的检测P.Met1Thr)。

IF 1 4区医学

Hemoglobin Pub Date : 2023-05-01 DOI: 10.1080/03630269.2023.2240708

Rawand Shamoon, Ahmed Yassin, Amir Charkaneh

引用次数: 0