Case series of homozygous and compound heterozygosity of Hb Malay, the diagnostic features and transfusion requirements

• Main Authors: Amran, Hanizah Salwa, Sarijan, Nurimatussolehah, Sathar, Jameela, Md Noor, Sabariah
• Format: Article
• Language: English
• Published: Advanced Medical and Dental Institute (AMDI) 2017
• Online Access: http://psasir.upm.edu.my/id/eprint/61055/1/Case%20series%20of%20homozygous%20and%20compound%20heterozygosity%20of%20Hb%20Malay%2C%20the%20diagnostic%20features%20and%20transfusion%20requirements.pdf; http://psasir.upm.edu.my/id/eprint/61055/; http://apps.amdi.usm.my/journal/index.php/jbcs/article/view/131

Hb Malay was first described in 1989 following an investigation of anaemia in a 22-year-old Malay gentleman who was homozygous for this b chain variant. This Hb variant is caused by AAC à AGC mutation at codon 19 of the b globin gene resulting in the substitution of serine for asparagine [1]. The mu...