Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia

References

• Mukherjee MB, Nandkarni AH, Gorakshakar AC, et al. Clinical, hematological and molecular variability of sickle cell-β thalassemia in Western India. Indian J Hum Genet. 2010;16(3):154–158.
   PubMedGoogle Scholar
• Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford (Oxfordshire, UK): Blackwell Science, 2001.
   Google Scholar
• Patel DK, Mashon RS, Patel S, et al. β-Globin gene haplotypes linked with the Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA] mutation in eastern India. Hemoglobin. 2010;34(6):604–609.
   PubMed Web of Science ®Google Scholar
• Patel DK, Patel S, Mashon RS, et al. Diverse phenotypic expression of Hemoglobin C disease in an Indian family. Ann Hematol. 2011;90(3):357–358.
   PubMed Web of Science ®Google Scholar
• Patel DK, Purohit P, Dehury S, et al. Fetal hemoglobin and α thalassemia modulate the phenotypic expression of Hb S-D-Punjab. Int J Lab Hematol. 2014;36(4):444–450.
   PubMed Web of Science ®Google Scholar
• Steinberg MH, Sebastiani P. Genetic modifiers of sickle cell disease. Am J Hematol. 2012;87(8):795–803.
   PubMed Web of Science ®Google Scholar
• Ghosh K, Colah R, Manglani M, et al. Guidelines for screening, diagnosis and management of hemoglobinopathies. Indian J Hum Genet. 2014;20(2):101–119.
   PubMedGoogle Scholar
• Upadhye DS, Jain DL, Trivedi YL, et al. Neonatal screening and the clinical outcome in children with sickle cell disease in Central India. PLOS One. 2016;11(1):e0147081.
   PubMed Web of Science ®Google Scholar
• Mashon RS, Dash PM, Khalkho J, et al. Higher fetal hemoglobin concentration in patients with sickle cell disease in eastern India reduces frequency of painful crisis. Eur J Haematol. 2009;83(4):383–384.
   PubMed Web of Science ®Google Scholar
• Platt OS, Thorington BD, Barmbilla DJ, et al. Pain in sickle disease. Rates and risk factors. N Engl J Med. 1991;325(1):11–16.
   PubMed Web of Science ®Google Scholar
• Ballas SK, Leiff S, Benjamin LJ, et al. Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol. 2010;85(1):6–13.
   PubMed Web of Science ®Google Scholar
• Lewis SM, Bain JB, Bates I. Investigation of abnormal haemoglobins and thalassaemia. In: Dacie JV, Lewis SM, Editors. Practical Haematology, 10th ed. Philadelphia (PA, USA): Churchill Livingstone, Elsevier Publications. 2006:273–310.
   Google Scholar
• Sambrook J, Russell DW. Molecular Cloning: A Laboratory Manual, 3rd ed. Cold Spring Harbor (NY, USA): Cold Spring Harbor Laboratory, 2001.
   Google Scholar
• Old JM, Varawalla NY, Sarkar R, et al. Rapid detection and prenatal diagnosis of β-thalassemia: studies in Indian and Cypriot populations in the UK. Lancet. 1990;336(8719):834–837.
   PubMed Web of Science ®Google Scholar
• Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature. 1982;296(5858):627–631.
   PubMed Web of Science ®Google Scholar
• Tan ASC, Quah TC, Low PS, et al. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood. 2001;98(1):250–251.
   PubMed Web of Science ®Google Scholar
• Kar BC, Devi S. Clinical profile of sickle cell disease in Orissa. Indian J Pediatr. 1997;64(1):73–77.
   PubMedGoogle Scholar
• Chhotray GP, Dash BP, Ranjit M. Spectrum of hemoglobinopathies in Orissa, India. Hemoglobin. 2004;28(2):117–122.
   PubMed Web of Science ®Google Scholar
• Kar B.C. Sickle cell Disease in India. J Assoc Physicians India. 1991;39:954–960.
   Google Scholar
• Ambedkar SS, Phadke MA, Balpande DN, et al. The prevalence and heterogeneity of β thalassemia mutations in the Western Maharastra population: a hospital bases study. Indian J Hum Genet. 2001;1(3):219–223.
   Google Scholar
• Shivshankara AR, Jailkhani R, Kini A. Hemoglobinopathies in Dharwad, North Karnataka: a hospital based study. J Clin Diagn Res. 2008;2(1):593–599.
   Google Scholar
• Donaldson A, Old J, Fisher C, et al. Jamaican Sβ+-thalassemia: mutations and haematology. Br J Haematol. 2000;108(2):290–294.
   PubMed Web of Science ®Google Scholar
• Sahu PK, Pati SS, Mishra SK. Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population. Hematol Rep. 2012;4(2):e9.
   PubMedGoogle Scholar
• Kulozik AE, Bail S, Kar BC, et al. Sickle cell-β+ thalassaemia in Orissa State. Br J Haematol. 1991;77(2):215–220.
   PubMed Web of Science ®Google Scholar
• Varawalla N, Fitches A, Old J. Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassemia on the Indian subcontinent. Hum Genet. 1992;90(4):443–449.
   PubMed Web of Science ®Google Scholar
• Bandyopadhyay A, Bandyopadhyay S, Chowdhury MD, et al. Major β globin gene mutations in eastern India and their associated haplotypes. Hum Hered. 1999;49(4):232–235.
   PubMed Web of Science ®Google Scholar
• Gupta RB, Tiwary RS, Pande PL, et al. Hemoglobinopathies among the Gond tribal groups of Central India: interaction of α- and β-thalassemia with β chain variants. Hemoglobin. 1991;15(5):441–458.
   PubMed Web of Science ®Google Scholar
• Kazazian HH, Orkin SH, Antonarkis SE, et al. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 1984;3(3):593–596.
   PubMed Web of Science ®Google Scholar
• Venkatesan R, Sarkar R, Old JM. β-Thalassemia mutations and their linkage to β-haplotypes in Tamil Nadu in Southern India. Clin Genet. 1992;42(5):251–256.
   PubMed Web of Science ®Google Scholar
• Powars D, Hiti A. Sickle cell anemia. βS Gene cluster haplotypes as genetic markers for severe disease expression. Am J Dis Child. 1993;147(11):1197–1202.
   PubMedGoogle Scholar
• Habara AH, Shaikho EM, Steinberg MH. Fetal hemoglobin in sickle cell anemia: the Arab-Indian haplotype and new therapeutic agents. Am J Hematol. 2017;92(11):1233–1242.
   PubMed Web of Science ®Google Scholar
• Vyas P, Higgs DR, Weatherall DJ, et al. The interaction of α thalassemia. Br J Haematol. 1988;70(4):449–454.
   PubMed Web of Science ®Google Scholar
• Pandey SK, Pandey S, Rajan R, et al. Phenotypic Effect of α globin gene numbers on Indian sickle β thalassemia patients. J Clin Lab Anal. 2014;28(2):110–113.
   PubMed Web of Science ®Google Scholar
• Pontes RM, Costa ES, Siqueira PFR, et al. Protector effect of α-thalassaemia on cholecystitis and cholecystectomy in sickle cell disease. Hematology. 2017;22(7):444–449.
   PubMed Web of Science ®Google Scholar
• Abuamer S, Shome ADK, Jaradat AA, et al. Frequencies and phenotypic consequences of association of α- and β-thalassemia alleles with sickle-cell disease in Bahrain. Int J Lab Hematol. 2017;39(1):76–83.
   PubMed Web of Science ®Google Scholar
• Ballas SK, Gay RN, Chehab FF. Is Hb A2 elevated in adults with sickle-α-thalassemia (βS/βS; –α/–α)? Hemoglobin. 1997;21(5):405–420.
   PubMed Web of Science ®Google Scholar