Indan Journal of Medical Research Indan Journal of Medical Research Indan Journal of Medical Research
  Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login  
  Home Print this page Email this page Small font sizeDefault font sizeIncrease font size Users Online: 5986    
ORIGINAL ARTICLE
Year : 2016  |  Volume : 143  |  Issue : 4  |  Page : 449-454

Association of BCL11A genetic variant (rs11886868) with severity in β-thalassaemia major & sickle cell anaemia


1 Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad; Dr. NTR University of Health Sciences, Vijayawada, India
2 Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India
3 Thalassemia and Sickle Cell Society, Hyderabad, India
4 Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad; Centre for Human Genetics & Molecular Medicine, Central University of Punjab, Bathinda, Punjab, India

Correspondence Address:
Anjana Munshi
Department of Molecular Biology, Institute Of Genetics & Hospital for Genetic Diseases, Begumpet, Hyderabad 500 016, Telangana
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-5916.184285

Rights and Permissions

Background & objectives: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association between this polymorphism and severity of β-thalassaemia major and SCA. Methods: a total of 620 samples (420 β-thalassaemia major and 200 SCA cases) were analysed before blood transfusion using basic screening tests like complete blood analysis and osmotic fragility and further confirmed by high performance liquid chromatography (HPLC), amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot blot techniques. All patients were transfusion dependent. Patients with β-thalassaemia and SCA were classified into mild, moderate, severe according to the severity score based on Hb levels, age of onset, age at which patients received their first blood transfusion, the degree of growth retardation and splenectomy. β-thalassaemia as well as SCA patients were analysed for the SNP, rs11886868 (T/C) in BCL11A gene and association between this polymorphism and severity of β-thalassaemia major as well as SCA was evaluated. Results: There was a significant difference in genotypic and allelic frequencies of BCL11A gene polymorphism between mild and moderate and mild and severe cases in both the groups. A significant (P<0.001) difference was observed in the mean HbF levels between the three genotypes in different severity groups. HbF levels were found to be high in CC genotype bearing individuals followed by TC and TT in β-thalassaemia major as well as SCA. Interpretation & conclusions: This study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the induction of HbF and ameliorates the severity of β-thalassaemia as well as SCA.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2177    
    Printed9    
    Emailed0    
    PDF Downloaded545    
    Comments [Add]    
    Cited by others 2    

Recommend this journal