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Clinica Chimica Acta; International... Apr 2015Variations in hemoglobin structure as well as number of globin chains give rise to a wide spectrum of heritable disorders. As such, their detection is significant from... (Review)
Review
OBJECTIVES
Variations in hemoglobin structure as well as number of globin chains give rise to a wide spectrum of heritable disorders. As such, their detection is significant from epidemiological perspective, especially in India in which there is a large multi-cultural population with distinct geographic distribution. Although a few variants present severe clinical symptoms in homozygotes, co-existence of heterozygous mutants can lead to deleterious conditions. The aim of the present study is to provide an overview on the prevalence of different hemoglobinopathies among Asian Indians.
DESIGN AND METHODS
A large cohort of samples from all regions of India was analyzed by high performance liquid chromatography (HPLC) (n=25,297) and capillary electrophoresis (CE) (n=21,219).
RESULTS
Using HPLC, 8029 hemoglobin variants were detected. HbS trait was detected at the highest frequency (33.03%), principally from the Chattisgarh region. Using CE, 6524 variants were detected. HbS trait, again, represented the most common mutation (25.67%). A total of 40 variants including compound heterozygous cases were detected by HPLC and CE.
CONCLUSIONS
Our report is one of the few to analyze a large cohort and report on the spectrum of hemoglobin variants in India.
Topics: Chromatography, High Pressure Liquid; Cohort Studies; Electrophoresis, Capillary; Genetic Variation; Hemoglobinopathies; Hemoglobins; Humans; India
PubMed: 25721910
DOI: 10.1016/j.cca.2015.02.033 -
Molecular Therapy : the Journal of the... Mar 2023
Topics: Humans; Gene Editing; Hemoglobinopathies; CRISPR-Cas Systems
PubMed: 36803951
DOI: 10.1016/j.ymthe.2023.02.007 -
Journal of Nepal Health Research Council Apr 2020Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the...
BACKGROUND
Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the distribution of hemoglobinopathies (sickle cell and thalassemia) cases in Nepal using laboratory based data.
METHODS
A retrospective study was carried out at five different sites of Nepal Government that uses capillary electrophoresis for screening of hemoglobin disorders from January 2019 to March 2019. All the cases diagnosed positive for hemoglobinopathy till December 2018 were collected from laboratory record at each sites, and analyzed using Statistical Package for Social Sciences (SPSS version 20.0).
RESULTS
Out of total 4018 patients tested during the period in all five different sites, 1470 were diagnosed positive for hemoglobinopathy. Sickling disorder was the most predominant hemoglobinopathy followed by ?-thalassemia. Province 5, province 6 and province 7 were mostly affected by sickling disorder while the other provinces by ?-thalassemia.
CONCLUSIONS
Sickle cell is the commonest cause of hemoglobinopathy followed by B thallesmias in Nepalese population. Sickle cell is more concentrated towards western part of Nepal and especially in Tharu ethnic population. In contrast, the distribution of ?-thalassemia is found throughout the country and among all ethnic groups of population.
Topics: Female; Hemoglobinopathies; Humans; Male; Medical Records; Nepal; Retrospective Studies
PubMed: 32335593
DOI: 10.33314/jnhrc.v18i1.2303 -
Saudi Medical Journal Feb 2020To investigate the prevalence and significance of different endocrinopathies in children and adolescents with transfusion-dependent thalassemia and sickle-cell anemia.
OBJECTIVES
To investigate the prevalence and significance of different endocrinopathies in children and adolescents with transfusion-dependent thalassemia and sickle-cell anemia.
METHODS
This is a descriptive, retrospective study between January 2010 and July 2018 in King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Data was collected through reviewing electronic hospital medical records then filling out data collection sheets and was interpreted through the IBM SPSS Statistics for Windows version 20.0 (IBM Corp, Armonk, NY, USA). Results: The total sample size was 119 patients, gender equality was almost achieved with 55.5% being male and 45.5% being female. The most common endocrinopathies were identified in the following order of short stature (39.5%), diabetes mellitus (29.4%), hypogonadism (12.6%), osteopenia (12.6%), osteoporosis (9.2%), hypothyroidism (9.2%), hypocortisolism (3.4%), and hypoparathyroidism (2.5%). All of which were statistically significant in their relationship to hemoglobinopathies with the exception of osteopenia and osteoporosis. Hypogonadism and hypocortisolism were found to be statistically significant in their relationship to a positive history of splenectomy at p=0.026 and p=0.012. Short stature was found to be statistically significant in its relationship to the male gender with a p=0.001. Conclusion: Endocrinopathy is a frequent complication of hemoglobinopathies, for which the most common were found to be short stature, diabetes mellitus, and low bone mineral density.
Topics: Adolescent; Anemia, Sickle Cell; Blood Transfusion; Body Height; Bone Density; Child; Data Analysis; Diabetes Mellitus; Endocrine System Diseases; Female; Hemoglobinopathies; Humans; Male; Prevalence; Retrospective Studies; Saudi Arabia; Thalassemia; Time Factors
PubMed: 32020146
DOI: 10.15537/smj.2020.2.24845 -
Advances in Clinical Chemistry 2012Hemoglobin disorders consist of two different groups, the structural hemoglobin variants and the thalassemias. The structural hemoglobin variants typically are based on... (Review)
Review
Hemoglobin disorders consist of two different groups, the structural hemoglobin variants and the thalassemias. The structural hemoglobin variants typically are based on the point mutations in the alpha- or beta-globin chain that results in a single-amino acid substitution in the corresponding globin chain, whereas thalassemias are caused by quantitative reduction in globin chain synthesis. Various techniques are applied for the laboratory investigation of these diseases, among them mass spectrometry (MS) for the detection and identification of structural hemoglobin variants and array techniques for the thalassemias. In this review, we present in the first part the most important mass spectrometric techniques applied in hemoglobin variant detection and identification and discuss several important aspects of this analysis technique in hematology. In the second part, the DNA analysis techniques used in hemoglobin analysis, such as reverse hybridization or microarray-based comparative genomic hybridization (CGH) techniques, are briefly discussed.
Topics: Animals; DNA; Genetic Variation; Hemoglobinopathies; Humans; Mass Spectrometry; Protein Array Analysis; Thalassemia
PubMed: 22870585
DOI: 10.1016/b978-0-12-394384-2.00001-2 -
Nihon Rinsho. Japanese Journal of... Mar 1995
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Molecular Genetics and Metabolism 2003
Review
Topics: Anemia, Sickle Cell; Hemoglobinopathies; Humans; Hybridization, Genetic; Infant, Newborn; Molecular Biology; Neonatal Screening; Oligonucleotide Array Sequence Analysis; Restriction Mapping; Thalassemia
PubMed: 14567962
DOI: 10.1016/j.ymgme.2003.08.014 -
Nature Genetics May 2021The nucleosome remodeling and deacetylase (NuRD) complex is a chromatin modifier and plays a key role in the switch from fetal to adult hemoglobin (Hb). In a new study,...
The nucleosome remodeling and deacetylase (NuRD) complex is a chromatin modifier and plays a key role in the switch from fetal to adult hemoglobin (Hb). In a new study, Vinjamur et al. identify a fetal Hb repressor, ZNF410, which does not bind directly to the γ-globin promoter but acts via its highly specific regulation of CHD4, a protein subunit of the NuRD complex, presenting a potential approach for therapeutic re-activation of fetal Hb.
Topics: Fetus; Globins; Hemoglobinopathies; Humans
PubMed: 33859418
DOI: 10.1038/s41588-021-00817-y -
Pakistan Journal of Biological Sciences... Nov 2022<b>Background and Objective:</b> The most common genetic disease in humans is hemoglobinopathies, also known as hemoglobin hereditary diseases. The purpose...
<b>Background and Objective:</b> The most common genetic disease in humans is hemoglobinopathies, also known as hemoglobin hereditary diseases. The purpose of this study was to look at the hemoglobinopathy patterns in anemic patients with a history of sickle cell disease in Saudi Arabia's Eastern Province. <b>Materials and Methods:</b> This prospective cross-sectional study was conducted on anemic patients attending the hospital with a strong family history of hemoglobinopathy and general signs and symptoms, as well as mild to moderate anemia crises. One hundred and ten people were chosen to participate in this study. The research was carried out between September, 2019 and October, 2020. <b>Results:</b> The sickle cell trait was the most common hemoglobinopathy in males (31.1%) and sickle cell trait+beta thalassemia minor was the most common in females (18%). The gender of patients and the distribution of hemoglobinopathy types were found to have a significant relationship (p-value of 0.001). <b>Conclusion:</b> A significant correlation was discovered between the gender of patients and the distribution of hemoglobinopathy types. More efforts must be made to raise the prevention of endogamy awareness among Saudis.
Topics: Male; Female; Humans; Cross-Sectional Studies; Sickle Cell Trait; Prospective Studies; Saudi Arabia; Anemia, Sickle Cell; Hemoglobinopathies
PubMed: 36978277
DOI: 10.3923/pjbs.2022.1094.1099 -
Clinical Chemistry Sep 2015
Topics: Blood Proteins; Electrophoresis, Capillary; Hemoglobinopathies; Hemoglobins, Abnormal; Humans; Male; Middle Aged; Sensitivity and Specificity
PubMed: 26319455
DOI: 10.1373/clinchem.2015.241091