© Kamla-Raj 2002                                                                        Int J Hum Genet, 2(3): 139-152 (2002)

Beta Globin Gene and Related Diseases:  A Review

Swapan Kumar Das¹ and Geeta Talukder²

1. University of Arkansas for Medical Sciences, Box 234, 4301 West Markham Street,

Little Rock, AR 72205, USA

E-mail: swkuda@yahoo.com

2. Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva

Pratishthan, Kolkata 700 026,West Bengal, India 

E-mail: geetatalakudar@hotmail.com  rkmsp@cal2.vsnl.net.in

Key wordS Haemoglobinopathies; inherited disorder; pathogenesis; molecular structure

abstract In the present paper an attempt has been made to review the variations Clinical or phenotypic diversity of b-thalassaemia and other b-haemoglobinopathies suggest that it is determined by layer upon layer of complexity. A wide variety of primary mutations at the b-globin gene; two well-defined secondary modifying loci (d and a gene) and several less well characterized tertiary modifiers interact with strong environmental component.

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