journal
https://read.qxmd.com/read/38111324/adherence-to-iron-chelation-therapy-among-children-with-beta-thalassemia-major-a-multicenter-cross-sectional-study
#21
JOURNAL ARTICLE
Thamron Keowmani, Siew Chin Teo, Kuan Chau Yap, Wei Lian Chua, Nur Farahanim Mohd Tahir, Peck Wei Chua, V Co Lim, Hoon Hing Leong
BACKGROUND: 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 major in Malaysia and the factors associated with it. METHODS: This was a cross-sectional study conducted between November 2019 and November 2021 at seven tertiary hospitals in Malaysia. Participants registered with Malaysian Thalassemia Registry were recruited by convenience sampling...
December 18, 2023: Hemoglobin
https://read.qxmd.com/read/38102839/the-prevalence-of-obstructive-sleep-apnea-and-associated-symptoms-among-patients-with-sickle-cell-disease-a-systematic-review-and-meta-analysis
#22
REVIEW
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 to address the prevalence of OSA and associated symptoms among patients with SCD. Electronic databases, including Web of Science, Scopus, PubMed, Google Scholar, and Embase were systematically searched to identify the relevant original articles on patients with SCD. Newcastle Ottawa scale was used for quality assessment...
December 15, 2023: Hemoglobin
https://read.qxmd.com/read/37982258/prevalence-severity-and-determinants-of-pain-in-thalassemia
#23
JOURNAL ARTICLE
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 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...
November 20, 2023: Hemoglobin
https://read.qxmd.com/read/37982216/silent-cerebral-infarcts-in-iraqi-patients-with-sickle-cell-disease
#24
JOURNAL ARTICLE
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 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...
November 20, 2023: Hemoglobin
https://read.qxmd.com/read/37947120/current-status-of-%C3%AE-thalassemic-burden-in-india
#25
REVIEW
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 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...
November 10, 2023: Hemoglobin
https://read.qxmd.com/read/37920883/submitting-novel-globin-gene-variants-to-hemoglobin
#26
EDITORIAL
Cornelis L Harteveld, George P Patrinos, Joanne Traeger-Synodinos, Petros Kountouris, Celeste Bento, Adekunle Adekile
No abstract text is available yet for this article.
November 2023: Hemoglobin
https://read.qxmd.com/read/37909121/a-new-hemoglobin-variant-hb-tangshan-hba1-c-239c%C3%A2-%C3%A2-t-cd79-gcg%C3%A2-%C3%A2-gtg-ala%C3%A2-%C3%A2-val-detected-by-maldi-tof-ms
#27
JOURNAL ARTICLE
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 spectrometry (MS). MALDI-TOF MS analysis detected an α-chain variant with a mass of 15,155 Da. However, this Hb variant was not detected during Hb A1c measurement by cation-exchange high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) methods. Sanger sequencing validated the presence of a heterozygous missense mutation [ HBA1 : c...
November 1, 2023: Hemoglobin
https://read.qxmd.com/read/37325871/an-expert-overview-on-therapies-in-non-transfusion-dependent-thalassemia-classical-to-cutting-edge-in-treatment
#28
REVIEW
Mohammadreza Saeidnia, Pooria Fazeli, Arghavan Farzi, Maryam Atefy Nezhad, Mojtaba Shabani-Borujeni, Mehran Erfani, Gholamhossein Tamaddon, Mehran Karimi
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 the actual rate of β-TI is more complicated than β-TM. The leading cause of this illness could be partial repression of β-globin protein production; accordingly, the rate of β-globin gene repression is different in patients, and the gene repression intensity creates a different clinical status...
November 2023: Hemoglobin
https://read.qxmd.com/read/37309066/molecular-basis-and-hematologic-phenotype-of-hemoglobin-h-disease-combined-with-two-rare-%C3%AE-globin-mutations
#29
JOURNAL ARTICLE
Yuling Qiu, Shilu Wei, Wei Hou, Ketong Lai, Hengying Zhu, Wenwei Li, Qi Li, Zheng Yang, Qisheng Shu, Ping Chen, Wuning Mo
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 found in Chinese populations. Proband I was a boy with Hb H disease in association with IVS-II-5(G > C) ( HBB :c0...
November 2023: Hemoglobin
https://read.qxmd.com/read/37818638/two-novel-%C3%AE-thalassemia-mutations-cd-39-c-thr%C3%A2-%C3%A2-pro-and-cd-109-acc%C3%A2-%C3%A2-ccc-thr%C3%A2-%C3%A2-pro-identified-in-two-chinese-families-a-case-report
#30
JOURNAL ARTICLE
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 : c.325A > C; p. Thr109Pro), respectively. The two probands were pregnant women diagnosed with mild hypochromic anemia or microcytic hypochromic anemia by routine blood tests. They started iron therapy before taking differential diagnosis from iron deficiency anemia...
October 11, 2023: Hemoglobin
https://read.qxmd.com/read/37807711/%C3%AE-thalassemia-trait-caused-by-supt5h-defects-another-case-report
#31
JOURNAL ARTICLE
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 65 and could be associated with haploinsufficiency. This variant was inherited from the mother who also had the asymptomatic phenotype of β-thalassemia trait. Our case further supports the role of SUPT5H as a potential β-globin chain production-modulating gene.
October 9, 2023: Hemoglobin
https://read.qxmd.com/read/37782073/hemoglobin-%C3%AE-globin-variants-in-hispanic-patients-an-institutional-experience-from-dallas-texas
#32
JOURNAL ARTICLE
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 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...
October 2, 2023: Hemoglobin
https://read.qxmd.com/read/37766586/development-of-a-quantitative-multiplex-pcr-to-detect-three-common-alpha-thalassemia-deletions
#33
JOURNAL ARTICLE
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 obstetric complications in the mother. Therefore, it is important to determine the genotype in parents who have a chance of having a fetus with one of the severe forms of this disease. A total of 112 samples that were previously analyzed for common alpha thalassemia mutations in Iran were used in this study. A new multiplex PCR including quantitative polymerase chain reaction to amplify the homologous regions of the alpha-globin gene cluster and fluorescent gap PCR was designed to identify -α3...
September 28, 2023: Hemoglobin
https://read.qxmd.com/read/37752804/a-novel-%C3%AE-globin-variant-hb-raklev-%C3%AE-75-e19-hbb-c-227t%C3%A2-%C3%A2-a-leu%C3%A2-gln
#34
JOURNAL ARTICLE
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 HbA1c evaluation using high performance liquid chromatography in a symptomless 54-year-old Caucasian woman, with the same variant also identified in her 16-year-old daughter. Purification of the hemoglobin revealed possibly diminished 2,3-bisphosphoglycerate (2,3-BPG) sensitivity, which may result in heightened oxygen affinity...
September 26, 2023: Hemoglobin
https://read.qxmd.com/read/37691435/effect-of-hydroxyurea-therapy-on-growth-parameters-in-older-children-6-15-year-old-with-sickle-cell-disease-low-dose-versus-high-dose
#35
JOURNAL ARTICLE
Doaa Khater, Sharef A-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 response. This is a prospective study conducted at Sultan Qaboos University Hospital, Oman, and included 91 SCD patients with age below 16 years when started on HU, aiming to explore the potential effect/s of HU on growth parameters of older children with SCD in relation to their clinical improvement and the dose required for this improvement...
September 10, 2023: Hemoglobin
https://read.qxmd.com/read/37605561/mutation-spectrum-of-%C3%AE-globin-gene-in-patients-with-%C3%AE-thalassemia-at-tidar-hospital-magelang-central-java-indonesia
#36
JOURNAL ARTICLE
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 by this condition. The distribution of mutation causing thalassemia is vary across ethnic and different regions in Indonesia. This study aims to identify the variant mutation in patients with β-thalassemia at Tidar Hospital as representative samples of Javanese population, the largest ethnicity in Indonesia...
August 22, 2023: Hemoglobin
https://read.qxmd.com/read/37605549/successful-treatment-of-a-child-with-hemoglobin-hammersmith-with-hematopoietic-stem-cell-transplantation
#37
JOURNAL ARTICLE
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 patients with hemoglobinopathies, it is well-established that hematopoietic stem cell transplantation provides a complete cure, but the literature on its role for those with Hb Hammersmith is limited. A seven-month-old girl who was examined for anemia and splenomegaly was followed up for congenital hemolytic anemia. The patient with visible cyanosis of the lips and whose p50 was low in blood gas was diagnosed with Hb Hammersmith through the DNA sequence analysis...
August 22, 2023: Hemoglobin
https://read.qxmd.com/read/37548174/the-spectrum-of-hbb-mutations-among-2315-beta-thalassemia-patients-of-a-reference-clinic-in-tehran-iran
#38
JOURNAL ARTICLE
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 reference thalassemia clinic in Tehran, on the basis of suspicion to thalassemia major or intermedia. The patients were homozygous or compound heterozygous for HBB mutations, and were referred from various Iranian provinces, during 15 years (2001- 2016). The HBB mutations were classified based on their frequency, and the result was compared to a meta-analysis of 14,293 beta thalassemia cases in the Iranian population, within the same time period...
August 7, 2023: Hemoglobin
https://read.qxmd.com/read/37529858/beta-globin-gene-cluster-haplotypes-in-beta-thalassemia-in-the-kurdistan-region-of-iraq
#39
JOURNAL ARTICLE
Shaima Al-Zebari, Nasir As Al-Allawi, Farida Nerweyi
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...
August 2, 2023: Hemoglobin
https://read.qxmd.com/read/37519257/covid-19-and-anemia-what-do-we-know-so-far
#40
REVIEW
Luai Abu-Ismail, Mohammad J J Taha, Mohammad T Abuawwad, Yaqeen Al-Bustanji, Khayry Al-Shami, Abdulqadir Nashwan, Mohamed Yassin
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...
July 31, 2023: Hemoglobin
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