Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance
Aims: Alpha (α) thalassaemia may be caused by large deletions of the α globin gene(s), or rarely, non-deletional mutations. Both types of mutations may co-exist, and if located on the same allele (α0), produce a reproductive risk of hydrops fetalis. We illustrate how clinical-laboratory correlation...
| Main Authors: | Chow, A., Ghassemifar, Reza, Finlayson, J. |
|---|---|
| Format: | Journal Article |
| Published: |
2013
|
| Online Access: | http://hdl.handle.net/20.500.11937/38804 |
Similar Items
Haematological parameter evaluation in different types of deletional alpha thalassaemia and in coinheritance of deletional alpha thalassaemia and beta thalassaemia in Hospital Universiti Sains Malaysia
by: Arifin, Samilawati Mohd
Published: (2018)
by: Arifin, Samilawati Mohd
Published: (2018)
Haematology, genetics and molecular epidemiology of deletional alpha thalassaemia in Malaysia
by: Mohd Yacob, Aliza
Published: (2011)
by: Mohd Yacob, Aliza
Published: (2011)
Non-deletional alpha thalassaemia: a review of emerging therapy
by: Khairil Wahidin, Nurfhaezah, et al.
Published: (2021)
by: Khairil Wahidin, Nurfhaezah, et al.
Published: (2021)
A molecular tool to assess the pathological relevance of alpha-globin DNA variants
by: Qadah, T., et al.
Published: (2012)
by: Qadah, T., et al.
Published: (2012)
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
by: Fathma Abdullah, Nurul Ain
Published: (2015)
by: Fathma Abdullah, Nurul Ain
Published: (2015)
A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC)
by: George, Elizabeth, et al.
Published: (2009)
by: George, Elizabeth, et al.
Published: (2009)
Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
by: Chong, Yi Min
Published: (2005)
by: Chong, Yi Min
Published: (2005)
Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2: c.-59C>T], [HBA2: c.-81C>A] and [HBA2: c.-91G>A] reveal varying patterns of transcriptional and translational activities
by: Qadah, T., et al.
Published: (2014)
by: Qadah, T., et al.
Published: (2014)
Optimal mean corpuscular haemoglobin (MCH) cut-off value for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening
by: Idris, Faridah, et al.
Published: (2020)
by: Idris, Faridah, et al.
Published: (2020)
Haemoglobin Adana in alpha thalassaemia intermedia in the Malaysian population
by: Lee, Tze Yan
Published: (2017)
by: Lee, Tze Yan
Published: (2017)
Elucidating the possible mechanism of renal dysfunction in alpha thalassaemia: a review
by: Nor Aziz Hashim, Nurul Aiman Farhana, et al.
Published: (2020)
by: Nor Aziz Hashim, Nurul Aiman Farhana, et al.
Published: (2020)
Identification and characterization of two novel and differentially expressed isoforms of human a2-and a1-globin genes
by: Ghassemifar, Reza, et al.
Published: (2012)
by: Ghassemifar, Reza, et al.
Published: (2012)
Detection on common deletional alpha-thallasaemia in pregnant
lady by polymerase chain reaction
by: Rosline, Hassan
Published: (2012)
by: Rosline, Hassan
Published: (2012)
Association of Alpha Haemoglobin Stabilizing Protein in HbE/ Beta-Thalassaemia Patients in Malaysia
by: Lim, Wai Feng
Published: (2011)
by: Lim, Wai Feng
Published: (2011)
Usefulness of red blood cell size factor (RSf) in screening genetic variants of alpha thalassaemia thalassaemia trait regardless of iron status
by: Idris, Nur Juliana, et al.
Published: (2018)
by: Idris, Nur Juliana, et al.
Published: (2018)
Effects of transfusion and splenectomy on globin chain expression in NTDT HbE/β-thalassaemia
by: Lim, Wai Feng, et al.
Published: (2021)
by: Lim, Wai Feng, et al.
Published: (2021)
Is a TNF alpha polymorphism responsible for mutations in the TP53 gene?
by: Berglund, Mattias, et al.
Published: (2011)
by: Berglund, Mattias, et al.
Published: (2011)
Molecular characterisation of alpha-thalassaemia in patients investigated for hypochromic microcytic indices in Hospital Universiti Sains Malaysia
by: Vijian, Divashini
Published: (2023)
by: Vijian, Divashini
Published: (2023)
Coinheritance of haemoglobin e trait with alpha thalassaemia among Malay students in national thalassaemia screening programme in Hospital Sultanah Nur Zahirah Kuala Terengganu
by: Somasundram, Suguna, et al.
Published: (2021)
by: Somasundram, Suguna, et al.
Published: (2021)
a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA
by: Finlayson, J., et al.
Published: (2012)
by: Finlayson, J., et al.
Published: (2012)
Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait
by: Teh, Lai Kuan, et al.
Published: (2009)
by: Teh, Lai Kuan, et al.
Published: (2009)
HbA2 levels in β-thalassaemia carriers with the Filipino β0-deletion: are the levels higher than what is found with non-deletional forms of β0-thalassaemia?
by: George, Elizabeth, et al.
Published: (2013)
by: George, Elizabeth, et al.
Published: (2013)
Molecular characterisation of β-globin gene mutations in Penang and Kedah, Malaysia
by: Kho, Siew Leng, et al.
Published: (2014)
by: Kho, Siew Leng, et al.
Published: (2014)
Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype
by: Finlayson, J., et al.
Published: (2011)
by: Finlayson, J., et al.
Published: (2011)
Justify your alpha
by: Lakens, Daniel, et al.
Published: (2018)
by: Lakens, Daniel, et al.
Published: (2018)
Association of insertion/deletion polymorphism of alpha-adrenoceptor gene in essential hypertension with or without type 2 diabetes mellitus in Malaysian subjects.
by: Vasudevan, Ramachandran, et al.
Published: (2008)
by: Vasudevan, Ramachandran, et al.
Published: (2008)
Differential gene expression analysis in early and late erythroid progenitor cells in ß-thalassaemia
by: Forster, L., et al.
Published: (2015)
by: Forster, L., et al.
Published: (2015)
In vitro characterization of the a-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (a2)]
by: Qadah, T., et al.
Published: (2012)
by: Qadah, T., et al.
Published: (2012)
Biophysical analysis of a lethal laminin alpha-1 mutation reveals altered self-interaction
by: Patel, Trushar R., et al.
Published: (2016)
by: Patel, Trushar R., et al.
Published: (2016)
Haplotype analysis of β-Thalassaemia major and carriers with Filipino β°-deletion in Sabah, Malaysia
by: Teh, Lai Kuan, et al.
Published: (2018)
by: Teh, Lai Kuan, et al.
Published: (2018)
Haematologic profile of haemoglobin constant spring and its co-inheritance with alpha and beta thalassaemia among form four students in Negeri Sembilan
by: Nahanthiran, Subithira, et al.
Published: (2022)
by: Nahanthiran, Subithira, et al.
Published: (2022)
Hedge Funds & The Alpha Paradigm
by: Logothetis, Ioannis
Published: (2012)
by: Logothetis, Ioannis
Published: (2012)
Characterisation of beta globin gene cluster deletions using multiplex-Gap-PCR and Multiplex Ligation-dependent Probe Amplification (MLPA)
by: Redzuwan, Yasmin Mohamad
Published: (2018)
by: Redzuwan, Yasmin Mohamad
Published: (2018)
The use of Taqman genotyping assays for rapid confirmation of B-thalassaemia mutations in the Malays: accurate diagnosis with low DNA concentrations
by: Teh, L. K., et al.
Published: (2015)
by: Teh, L. K., et al.
Published: (2015)
In vitro alpha-glucosidase and alpha-amylase enzyme-inhibited activities by water-lily (Nymphaea genus) extracts
by: Korawinwich Boonpisuttinant,, et al.
Published: (2019)
by: Korawinwich Boonpisuttinant,, et al.
Published: (2019)
Phytochemical analysis of Elateriospermum tapos and its inhibitory effects on alpha-amylase, alpha-glucosidase and pancreatic lipase
by: Ja'afar, Nor Liyana, et al.
Published: (2018)
by: Ja'afar, Nor Liyana, et al.
Published: (2018)
Seeking negative alphas through shorting
by: Mohamad, Azhar
Published: (2017)
by: Mohamad, Azhar
Published: (2017)
Studies into the occurrence of alpha-onocerin in restharrow
by: Hayes, Steven Paul
Published: (2013)
by: Hayes, Steven Paul
Published: (2013)
Type-2 fuzzy alpha-cuts
by: Hamrawi, Hussam, et al.
Published: (2017)
by: Hamrawi, Hussam, et al.
Published: (2017)
Extraction of alpha-tocopherol from corn
by: Nor Hazlila, Basiran
Published: (2006)
by: Nor Hazlila, Basiran
Published: (2006)
Similar Items
-
Haematological parameter evaluation in different types of deletional alpha thalassaemia and in coinheritance of deletional alpha thalassaemia and beta thalassaemia in Hospital Universiti Sains Malaysia
by: Arifin, Samilawati Mohd
Published: (2018) -
Haematology, genetics and molecular epidemiology of deletional alpha thalassaemia in Malaysia
by: Mohd Yacob, Aliza
Published: (2011) -
Non-deletional alpha thalassaemia: a review of emerging therapy
by: Khairil Wahidin, Nurfhaezah, et al.
Published: (2021) -
A molecular tool to assess the pathological relevance of alpha-globin DNA variants
by: Qadah, T., et al.
Published: (2012) -
Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
by: Fathma Abdullah, Nurul Ain
Published: (2015)