Cargando…

Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl

Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β(0)-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β(0)-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Panyasai, Sitthichai, Rahad, Sarinna, Pornprasert, Sakorn
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613431/ https://www.ncbi.nlm.nih.gov/pubmed/28970692 http://dx.doi.org/10.4103/ajts.AJTS_117_16

Ejemplares similares

Detection of α-thalassemia-1 Southeast Asian and Thai Type Deletions and β-thalassemia 3.5-kb Deletion by Single-tube Multiplex Real-time PCR with SYBR Green1 and High-resolution Melting Analysis
por: Pornprasert, Sakorn, et al.
Publicado: (2011)

Single-tube multiplex real-time PCR with EvaGreen and high-resolution melting analysis for diagnosis of α(0)-thalassemia--(SEA),--(THAI), and--(CR) type deletions
por: Ruengdit, Chedtapak, et al.
Publicado: (2023)

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis
por: Panyasai, Sitthichai, et al.
Publicado: (2023)

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
por: Panyasai, Sitthichai, et al.
Publicado: (2023)

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
por: Jomoui, Wittaya, et al.
Publicado: (2023)

Coinheritance of B-Thalassemia and Sickle Cell Anaemia in Southwestern Nigeria
por: Vincent, Osunkalu, et al.
Publicado: (2016)

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report
por: Naoum, Flávio Augusto, et al.
Publicado: (2020)

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
por: Phasit, Amphai, et al.
Publicado: (2022)

Thalassemia and Hemoglobin E in Southern Thai Blood Donors
por: Nuinoon, Manit, et al.
Publicado: (2014)

Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α(+)-thalassemia in an adult Thai proband
por: Singha, Kritsada, et al.
Publicado: (2014)

Rapid molecular diagnostics of large deletional β(0)-thalassemia (3.5 kb and 45 kb) using colorimetric LAMP in various thalassemia genotypes
por: Tepakhan, Wanicha, et al.
Publicado: (2021)

A rare case of coinheritance of Hemoglobin H disease and sickle cell trait combined with severe iron deficiency
por: Medinger, Michael, et al.
Publicado: (2011)

The odds and implications of coinheritance of hemophilia A and B
por: Karch, Corinne, et al.
Publicado: (2020)

EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia
por: Laks, Kane M., et al.
Publicado: (2020)

Hemoglobin S and Glucose-6-Phosphate Dehydrogenase Deficiency Coinheritance in AS and SS Individuals in Malaria-Endemic Region: A Study in Calabar, Nigeria
por: Okafor, Ifeyinwa M., et al.
Publicado: (2019)

Interaction between Hb SS and alpha thalassemia (3.7 kb deletion): a familial study
por: Shimauti, Eliana Litsuko Tomimatsu, et al.
Publicado: (2011)

P1472: COINHERITANCE OF PIEZO1 VARIANTS AND MULTI-LOCUS RED BLOOD CELL DEFECTS ACCOUNT FOR THE SYMPTOMATIC PHENOTYPE IN BETA-THALASSEMIA CARRIERS.
por: Maria Pinto, Valeria, et al.
Publicado: (2023)

Immunostick Test for Detecting ζ-Globin Chains and Screening of the Southeast Asian α-Thalassemia 1 Deletion
por: Pata, Supansa, et al.
Publicado: (2019)

Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil
por: de Medeiros Alcoforado, Gustavo Henrique, et al.
Publicado: (2012)

Detection of Common Deletional of α-Thalassemia 3.7 Kb from Metropolitan Region of Manaus, Amazonas, Brazil
por: Anselmo, Fernanda Cozendey, et al.
Publicado: (2021)

PB2317: COINHERITANCE OF COMBINED FACTOR VII AND FACTOR XIII DEFICIENCY IS ASSOCIATED WITH A MILD BLEEDING PHENOTYPE IN PATIENT WITH NON-TRANSFUSION DEPENDENT THALASSEMIA
por: Alshareef, O., et al.
Publicado: (2022)

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A(2) in the Thai population
por: Srivorakun, Hataichanok, et al.
Publicado: (2020)

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
por: Torres, Lidiane de Souza, et al.
Publicado: (2015)

Anthropometric measurements of school-going-girls of the Punjab, Pakistan
por: Karim, Asima, et al.
Publicado: (2020)

Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer
por: Huang, Wei, et al.
Publicado: (2021)

Reticulocyte hemoglobin equivalent to detect thalassemia and thalassemic hemoglobin variants
por: Sudmann, Å A, et al.
Publicado: (2012)

Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
por: Nasreen, Fariha, et al.
Publicado: (2023)

Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran
por: Jalali, Hossein, et al.
Publicado: (2023)

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
por: Mutreja, Deepti, et al.
Publicado: (2013)

An Interesting and Rare Case of Hemoglobin D-Punjab Variant in Tamil Nadu
por: Spandana, Rallapalli, et al.
Publicado: (2022)

A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg.
por: Lee, N. Y., et al.
Publicado: (1992)

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis
por: Höblinger, A, et al.
Publicado: (2009)

Economic burden of beta-thalassemia/Hb E and beta-thalassemia major in Thai children
por: Riewpaiboon, Arthorn, et al.
Publicado: (2010)

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China
por: Zhang, Jie, et al.
Publicado: (2019)

Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients
por: Pandey, Sanjay, et al.
Publicado: (2012)

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
por: Forte, Giovanna, et al.
Publicado: (2022)

Comprehensibility, reliability, validity, and responsiveness of the Thai version of the Health Assessment Questionnaire in Thai patients with rheumatoid arthritis
por: Osiri, Manathip, et al.
Publicado: (2009)

Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia
por: Phanrahan, Paramee, et al.
Publicado: (2019)

Genetic predictions of life expectancy in southern Thai patients with β(0)-thalassemia/Hb E
por: Nuinoon, Manit, et al.
Publicado: (2022)

Asymptomatic actinomycosis in a girl with thalassemia major
por: Yu, Uet, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_be20qpfphlhtu04bv6dvm6malp