Two rare hemoglobin variants with α thalassemia in Eastern Indian population

Two rare hemoglobin variants with α thalassemia in Eastern Indian population

<p>The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple muta...

Full description

Bibliographic Details
Main Authors:	Dipanwita Das, Nandini Chattopadhyay, Arghya Mukherjee, Dhrubajyoti Chattopadhyay, Prantar Chakrabarti, Utpal Chaudhuri, Sila Chakrabarti
Format:	Article
Language:	English
Published:	MDPI AG 2013-08-01
Series:	Thalassemia Reports
Subjects:	hemoglobin (Hb) Hofu, Hb Grange- Blanche, α-thalassemia, Eastern India, highpressure liquid chromatography, b-globin gene, direct DNA sequencing.
Online Access:	http://www.pagepressjournals.org/index.php/thal/article/view/681

Similar Items

Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α+-thalassemia in a Thai family
by: Sitthichai Panyasai, et al.
Published: (2023-12-01)

Hemoglobin Lansing (Alpha) [HBA2 CD87 (HIS>GLU) (C>A)] in a Turkish Individual Resulting from Another Nucleotide Substitution
by: Nejat Akar, et al.
Published: (2014-08-01)

Closed relationship of βE-allele and high HbF associated cis-loci: Case studies in Thai HbE/ β-thalassemia families
by: Lamplimas Tangpan, et al.
Published: (2015-05-01)

Treatment of Erythroid Precursor Cells from β-Thalassemia Patients with <i>Cinchona</i> Alkaloids: Induction of Fetal Hemoglobin Production
by: Cristina Zuccato, et al.
Published: (2021-12-01)

Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene
by: Noraesah Mahmud, et al.
Published: (2021-11-01)

Pharmacological Induction of Fetal Hemoglobin in β-Thalassemia and Sickle Cell Disease: An Updated Perspective
by: Rayan Bou-Fakhredin, et al.
Published: (2022-06-01)

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population
by: M.R.S.C. Wenning, et al.
Published: (2000-09-01)

First observation of hemoglobin Crete [Beta129(H7) Ala>Pro] in the Turkish population
by: Çiğdem Arslan, et al.
Published: (2011-12-01)

Hemoglobin E disorders in Eastern Uttar Pradesh
by: Patne Shashikant, et al.
Published: (2009-01-01)

Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand
by: Amphai Phasit, et al.
Published: (2022-05-01)

<i>In Vitro</i> Study of Ineffective Erythropoiesis in Thalassemia: Diverse Intrinsic Pathophysiological Features of Erythroid Cells Derived from Various Thalassemia Syndromes
by: Woratree Kaewsakulthong, et al.
Published: (2022-09-01)

Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey
by: Uludağ A, et al.
Published: (2016-06-01)

Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes
by: Rosa Catapano, et al.
Published: (2023-03-01)

Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia
by: Alexandra Agapidou, et al.
Published: (2018-01-01)

Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment
by: Duantida Songdej, et al.
Published: (2022-11-01)

Hemoglobin Interlaken in combination with beta thalassemia trait
by: Mara J. Ojeda, et al.
Published: (2013-01-01)

Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective
by: Zeynep Karakaş, et al.
Published: (2015-11-01)

Pitfalls in estimation of glycosylated hemoglobin: A rare hemoglobin variant—Hb Hope
by: Anu Mathew, et al.
Published: (2021-01-01)

Gamma reactivation using the spongy effect of KLF1-binding site sequence: an approach in gene therapy for beta-thalassemia
by: Nasrin Heydari, et al.
Published: (2016-10-01)

Challenges in the Diagnosis of Beta-thalassemia Syndrome: The Importance of Molecular Diagnosis
by: Zefarina Zulkafli, et al.
Published: (2022-01-01)

Molecular epidemiological investigation of abnormal hemoglobin in Shaokwan region, southern China
by: Hui Yang, et al.
Published: (2022-12-01)

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population
by: Hataichanok Srivorakun, et al.
Published: (2020-08-01)

Combined approaches for increasing fetal hemoglobin (HbF) and de novo production of adult hemoglobin (HbA) in erythroid cells from β-thalassemia patients: treatment with HbF inducers and CRISPR-Cas9 based genome editing
by: Alessia Finotti, et al.
Published: (2023-07-01)

α:Non–α and Gγ:Aγ globin chain ratios in thalassemia intermedia patients treated with hydroxyurea
by: Abbas Najjari, et al.
Published: (2014-05-01)

First Observation of Hemoglobin G-Waimanalo and Hemoglobin Fontainebleau Cases in the Turkish Population
by: Vildan Çiftçi, et al.
Published: (2016-02-01)

Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels
by: Wittaya Jomoui, et al.
Published: (2023-12-01)

HbE and HbF levels in HbE/βO-thalassemia are heterogeneous
by: Thanusak Tatu, et al.
Published: (2011-01-01)

Induction of Fetal Hemoglobin by Introducing Natural Hereditary Persistence of Fetal Hemoglobin Mutations in the γ-Globin Gene Promoters for Genome Editing Therapies for β-Thalassemia
by: Dian Lu, et al.
Published: (2022-05-01)

Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China
by: Lizhu Chen, et al.
Published: (2023-12-01)

AN OBSERVATIONAL STUDY OF THE EFFECT OF HEMOGLOBINOPATHY, ALPHA THALASSEMIA AND HEMOGLOBIN E ON P. VIVAX PARASITEMIA
by: Suparak Para, et al.
Published: (2018-02-01)

High-Oxygen-Affinity Hemoglobins—Case Series and Review of the Literature
by: Veroniki Komninaka, et al.
Published: (2024-01-01)

Thalassemia, a human blood disorder
by: F. Shafique, et al.
Published: (2021-09-01)

Transfusion-induced hemoglobinopathy in patients of beta-thalassemia major
by: Sanjeev K Gupta, et al.
Published: (2011-01-01)

Decrease in α-Globin and Increase in the Autophagy-Activating Kinase ULK1 mRNA in Erythroid Precursors from β-Thalassemia Patients Treated with Sirolimus
by: Matteo Zurlo, et al.
Published: (2023-10-01)

Differential regulation of plasma proteins between members of a family with homozygous HbE and HbEβ-thalassemia
by: Suchismita Halder, et al.
Published: (2014-09-01)

The Optimized γ-Globin Lentiviral Vector GGHI-mB-3D Leads to Nearly Therapeutic HbF Levels In Vitro in CD34<sup>+</sup> Cells from Sickle Cell Disease Patients
by: Ekati Drakopoulou, et al.
Published: (2022-12-01)

Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child
by: Tania Regina Tozetto-Mendoza, et al.
Published: (2005-09-01)

The Spectrum of β -thalassemia Mutations in Isfahan Province of Iran
by: P Derakhshandeh-Peykar, et al.
Published: (2008-06-01)

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition
by: Amit Kumar Yadav, et al.
Published: (2010-09-01)

Molecular Diagnostics of ß-Thalassemia
by: Plaseska-Karanfilska Dijana, et al.
Published: (2012-12-01)