title: Fetal Haemoglobin and β-globin Gene Cluster Haplotypes among Sickle Cell Patients in Chhattisgarh.
abstract: BACKGROUND
  Foetal Haemoglobin (HbF) is the best-known genetic modulator of sickle cell anaemia, which varies dramatically in concentration in the blood of these patients. The patients with SCA display a remarkable variability in the disease severity. High HbF levels and the β-globin gene cluster haplotypes influence the clinical presentation of sickle cell disease. To identify the genetic modifiers which influence the disease severity, we conducted a β-globin haplotype analysis in the sickle cell disease patients of Chhattisgarh.
  
  
  OBJECTIVE
  The foetal haemoglobin and the β-globin gene haplotypes of the sickle cell trait and the sickle cell disease patients from Chhattisgarh were investigated.
  
  
  METHODS
  A total of 100 sickle cell patients (SS), 50 sickle cell trait patients (AS) and 50 healthy control individuals were included in the present study. The distribution of the β-globin gene haplotype was done by the PCR-RFLP method.
  
  
  RESULTS
  PCR-RFLP showed that the homozygous Arab-Indian haplotype (65%) was the most frequent one, followed by the heterozygous Arab-Indian haplotype (11%) in the sickle cell patients (SS), while the AS patients had a higher frequency of the heterozygous Arab-Indian haplotype (38%) in comparison to homozygous one (32%). Four atypical haplotypes, 3 Benin and 1 Cameroon were also observed, although they were in lower frequencies. In the present study, the HbF levels were higher in the AS and the SS patients, with one or two Arab-Indian haplotypes as compared to the other haplotypes.
  
  
  CONCLUSIONS
  The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi-Arabia or India and it was associated with higher HbF levels and a milder disease severity.
authors.affiliation: Assistant Professor, Departtment of Biochemistry and Biotechnology, Pt. J. N. M. Medical College Raipur (C.G.), Chhattisgarh, India .
authors.forename: Sanjana
authors.initials: S
authors.lastname: Bhagat
authors.forename: Pradeep Kumar
authors.initials: PK
authors.lastname: Patra
authors.forename: Amar Singh
authors.initials: AS
authors.lastname: Thakur
keywords: Foetal Haemoglobin; Sickle cell anaemia; β-globin gene cluster haplotype
references.citation: Am J Hematol. 2008 Mar;83(3):189-95
references.pmid: 17918249
references.citation: Proc Natl Acad Sci U S A. 1984 Feb;81(3):853-6
references.pmid: 6583683
references.citation: Am J Hematol. 1989 Sep;32(1):66-9
references.pmid: 2757004
references.citation: Ann Saudi Med. 1994 May;14(3):237-46
references.pmid: 17586900
references.citation: J Clin Invest. 1990 Feb;85(2):364-70
references.pmid: 1688883
references.citation: Br Med J. 1952 Feb 23;1(4755):404-5
references.pmid: 14896162
references.citation: Hum Biol. 1989 Aug;61(4):479-91
references.pmid: 2480325
references.citation: Am J Dis Child. 1993 Nov;147(11):1197-202
references.pmid: 8237915
references.citation: Hum Biol. 1999 Jun;71(3):333-40
references.pmid: 10380370
references.citation: Hum Mol Genet. 2009 Oct 15;18(R2):R216-23
references.pmid: 19808799
references.citation: Lancet. 1958 Feb 8;1(7015):297-8
references.pmid: 13515190
references.citation: Hemoglobin. 2004 May;28(2):157-61
references.pmid: 15182059
references.citation: Proc Natl Acad Sci U S A. 1985 Apr;82(7):2111-4
references.pmid: 2580306
references.citation: Trans R Soc Trop Med Hyg. 1987;81(2):273-5
references.pmid: 3617190
references.citation: Hum Genet. 1992 Dec;90(4):443-9
references.pmid: 1362388
references.citation: Blood. 1985 Dec;66(6):1463-5
references.pmid: 4063531
references.citation: Blood. 1991 Jun 1;77(11):2488-96
references.pmid: 2039830
references.citation: Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771-3
references.pmid: 6584911
references.citation: N Engl J Med. 1985 Apr 4;312(14):880-4
references.pmid: 2579336
references.citation: Br J Haematol. 2005 May;129(4):465-81
references.pmid: 15877729
references.citation: Blood. 1987 Jun;69(6):1742-6
references.pmid: 2437982
references.citation: Nucleic Acids Res. 1989 Mar 25;17(6):2376
references.pmid: 2565032
references.citation: Int J Biomed Sci. 2012 Mar;8(1):36-9
references.pmid: 23675255
references.citation: Blood. 1986 May;67(5):1404-10
references.pmid: 2421808