Cargando…

A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β(0)-thalassaemia deletion

Homozygosity for the α-thalassaemia Southeast Asian (α-SEA) and Filipino β(0)-thalassaemia (β-FIL) deletions can cause serious complications leading to foetal death or life-long blood transfusions. A rapid and accurate molecular detection assay is essential in populations where the deletions are com...

Descripción completa

Detalles Bibliográficos
Autores principales:	Leng Kho, Siew, Heng Chua, Kek, George, Elizabeth, Tan, Jin Ai Mary Anne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568469/ https://www.ncbi.nlm.nih.gov/pubmed/26365497 http://dx.doi.org/10.1038/srep13937

Ejemplares similares

DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia
por: Tan, Jin Ai Mary Anne, et al.
Publicado: (2016)

Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β°-Deletion in Sabah, Malaysia
por: Teh, Lai Kuan, et al.
Publicado: (2018)

Non-deletional alpha thalassaemia: a review
por: Kalle Kwaifa, Ibrahim, et al.
Publicado: (2020)

α-thalassaemia
por: Harteveld, Cornelis L, et al.
Publicado: (2010)

Thalassaemia Intermedia: an Update
por: Taher, Ali T., et al.
Publicado: (2009)

Screening for beta thalassaemia
por: Petrou, Mary
Publicado: (2010)

Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry
por: Mohd Ibrahim, Hishamshah, et al.
Publicado: (2020)

Clinical validation of a single-tube PCR and reverse dot blot assay for detection of common α-thalassaemia and β-thalassaemia in Chinese
por: Liang, Hong-Feng, et al.
Publicado: (2022)

Thalassaemia and Aberrations of Growth and Puberty
por: Kyriakou, Andreas, et al.
Publicado: (2009)

THALASSAEMIA IS A TROPICAL DISEASE
por: Kotila, T.R.
Publicado: (2012)

Diagnosis of α-thalassaemia by colorimetric gap loop mediated isothermal amplification
por: Chumworathayee, Worakawee, et al.
Publicado: (2023)

Osteoporosis Syndrome in Thalassaemia Major: An Overview
por: Toumba, Meropi, et al.
Publicado: (2010)

Endocrine complications in patients with thalassaemia major
por: Meng, Zhe, et al.
Publicado: (2013)

Association of Beta-Thalassaemia and Hypogonadotropic Hypogonadism
por: Vidal, Angela, et al.
Publicado: (2022)

Factors affecting height in children and adolescents with transfusion-dependent Thalassaemia – results from a Thalassaemia center in Malaysia
por: Ting, Tzer Hwu, et al.
Publicado: (2013)

Estimating the burden of α-thalassaemia in Thailand using a comprehensive prevalence database for Southeast Asia
por: Hockham, Carinna, et al.
Publicado: (2019)

Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China
por: Zhao, Jianghong, et al.
Publicado: (2020)

Alpha thalassaemia-mental retardation, X linked
por: Gibbons, Richard
Publicado: (2006)

Does α (+)-Thalassaemia Protect against Malaria?
por: Pasvol, Geoffrey
Publicado: (2006)

Preimplantation genetic diagnosis for α-thalassaemia in China
por: Xu, Yan-Wen, et al.
Publicado: (2009)

Epistasis and the sensitivity of phenotypic screens for beta thalassaemia
por: Penman, Bridget, et al.
Publicado: (2014)

Epistasis and the sensitivity of phenotypic screens for beta thalassaemia
por: Penman, Bridget S, et al.
Publicado: (2015)

Paraspinal mass in thalassaemia is often extramedullary haematopoiesis
por: Pandey, Gaurav, et al.
Publicado: (2015)

Status of Superoxide Dismutase in Transfusion Dependent Thalassaemia
por: Rujito, Lantip, et al.
Publicado: (2015)

Is β-Thalassaemia Minor Associated with Metabolic Disorder?
por: Kırım, Sinan, et al.
Publicado: (2014)

Health related quality of life in Malaysian children with thalassaemia
por: Ismail, Adriana, et al.
Publicado: (2006)

Worldwide survey of T2* cardiovascular magnetic resonance in Thalassaemia
por: Carpenter, John-Paul, et al.
Publicado: (2011)

Giant Accessory Right-Sided Suprarenal Spleen in Thalassaemia
por: Arra, A., et al.
Publicado: (2013)

Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications
por: Baldini, M., et al.
Publicado: (2014)

Oxidative stress in β-thalassaemia and sickle cell disease
por: Voskou, S., et al.
Publicado: (2015)

Alpha thalassaemia in tribal communities of coastal Maharashtra, India
por: Deo, Madhav G., et al.
Publicado: (2014)

α-thalassaemia combined with hereditary spherocytosis in the same patient
por: Li, Xiaohong, et al.
Publicado: (2018)

Development of the Thalassaemia Adult Life Index (ThALI)
por: Kantaris, Xenya, et al.
Publicado: (2020)

Assertiveness in the patients with thalassaemia major: A qualitative study
por: Valizadeh, Leila, et al.
Publicado: (2021)

Characterization of New Alpha Zero (α(0)) Thalassaemia Deletion (−−(GB)) among Malays in Malaysian Population
por: Yasin, Norafiza Mohd, et al.
Publicado: (2023)

Experiences, Knowledge Gaps and Information Needs of Women in Australia with Transfusion Dependent Thalassaemia in Regard to Fertility and Pregnancy
por: Matthiesson, Hannah K, et al.
Publicado: (2023)

Molecular Characterization of α- and β-Thalassaemia among Malay Patients
por: Mohd Yatim, Nur Fatihah, et al.
Publicado: (2014)

Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand
por: Pharephan, Somphon, et al.
Publicado: (2016)

Hypochromic Anaemias Not Due to Iron Deficiency: Thalassaemia and Sideroblastic Anaemia
por: Weatherall, D. J.
Publicado: (1969)

Parental Knowledge on Thalassaemia and Factors Associated with Refusal to Screen Their Children
por: Mat, Mohammad Azmi Che, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_3tm7oi91hs9kc6vohiqp6ob9k3