Alpha hemoglobin stabilizing protein: Its causal relationship with the severity of beta thalassemia

Sagar, Chandan S.; Kumar, Rakesh; Sharma, Dharmesh Chandra; Kishor, Purnima

doi:10.1016/j.bcmd.2015.05.005

Cited by 7 publications

(8 citation statements)

References 17 publications

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“…However, although HbA 2 and/or HbF indicated a b-thal clinical picture, 8 b-thal patients in this study exhibited a a-Hb pool value similar to those observed in controls. An analysis of possible modulating factors of these b-thal patients would be to extensively screen the entire HBA family (Lai et al, 2006;Sagar et al, 2015). If HbF is significantly elevated, XmnI restriction site of the HBG2 gene (Bandyopadhyay et al, 2001;Nguyen et al, 2010) or KLF1 gene mutations (Borg et al, 2010;Liu et al, 2014), polymorphism in BCL11A gene or HBS1L-MYB intergenic region Uda et al, 2008;Wahlberg et al, 2009) should be investigated.…”

Section: Discussionmentioning

confidence: 99%

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Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study

et al. 2017

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The severity of β-thalassaemia (β-thal) intermedia is mainly correlated to the degree of imbalanced α/non α-globin chain synthesis. The phenotypic diversity of β-thal depends on this imbalance and reflects all possible combinations of α- and β-globin genotypes, levels of fetal haemoglobin (HbF) and co-inheritance of other modulating factors. This study aimed to demonstrate the validity of a new surrogate of α/non α-globin biosynthetic ratio by measuring the soluble α-Hb pool in lysed red blood cells. Our results confirm that the α-Hb pool measurement allows a good discrimination between β-thal intermedia patients, controls and α-thal patients (P < 0·003). Receiver operator characteristic analyses revealed an area under the curve of 0·978 for the α-Hb pool measurement at a threshold of 120 ng free α-Hb/mg of total Hb/ml of haemolysate (ppm) with a sensitivity and specificity of 86% and 100%, respectively, to discriminate between β-thal and not β-thal subjects. Significant correlations were observed between the α-Hb pool and biological parameters of β-thal, the most significant association being observed with red cell hexokinase activity. This study indicates that the α-Hb pool could be a new marker for assistance in diagnostic orientation of β-thal intermedia patients and may be clinically useful for monitoring the evolution of the disequilibrium of globin synthesis in response to treatments.

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Section: Discussionmentioning

confidence: 99%

“…Identification of the risk of major b-thalassaemia disease during pregnancy and the diagnosis of difficult symptomatic c-thalassaemias of newborns locus, as well as AHSP gene (Lai et al, 2006;Sagar et al, 2015). .…”

Section: Indicationmentioning

confidence: 99%

Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study

et al. 2017

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“…It can also help to determine the carrier status of thalassemia but it is not done routinely. Some mutations show no symptoms while some decline the formation of βglobin chain in αthalassemia as well as some completely prevent the making of βglobin (Sagar et al, 2015).…”

Section: Osteoporosismentioning

confidence: 99%

Current status of beta‐thalassemia and its treatment strategies

Ali

Shakir

Khan

et al. 2021

Molec Gen & Gen Med

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“…It can also help to determine carrier status of thalassemia but it not done routinely. Some mutations shows no symptoms while some decline the formation of βglobin chain in αthalassemia as well as some completely prevent the making of beta globin [36].…”

Section: Diagnosismentioning

confidence: 99%

Current Perspective of Beta Thalassemia and Its Treatment Strategies

Ali¹,

Mumtaz²,

Ha³

et al. 2019

Preprint

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Thalassemia is genetic blood disease cause by absence or decrease of one or more of the globin chain synthesis. Beta thalassemia is characterized by one or more mutations in beta globin gene. Absence or reduced amount the of beta globin chains cause ineffective erythropoiesis which leads to anemia. Beta thalassemia has been further divided into three main forms: Thalassemia minor/silent carrier, major and intermedia. More severe form is thalassemia major in which patients depend upon blood transfusion for survival and high level of iron occur as a consequence of consistent blood transfusion. Over loaded iron invokes the synthesis of reactive oxygen species that are toxic in redundancy and triggering the impairment to vascular, endocrine and hepatic system. Thalassemia can be diagnosed and detected through various laboratory tests such as blood smear, prenatal testing (genetic testing of amniotic fluid), DNA analysis (genetic testing) and complete blood count. Treatment of thalassemia intermedia is symptomatic but it can also be managed by splenectomy and folic supplementation. While thalassemia major can be treated by transplantation of bone marrow, regular transfusion of blood and iron chelation treatment, stimulation of fetal hemoglobin production, hematopoietic stem cell transplantation and gene therapy.

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Alpha hemoglobin stabilizing protein: Its causal relationship with the severity of beta thalassemia

Cited by 7 publications

References 17 publications

Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study

Red blood cells free α‐haemoglobin pool: a biomarker to monitor the β‐thalassemia intermedia variability. The ALPHAPOOL study

Current status of beta‐thalassemia and its treatment strategies

Current Perspective of Beta Thalassemia and Its Treatment Strategies

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