Affiliations 

  • 1 Universiti Putra Malaysia
  • 2 Hospital Ampang
MyJurnal

Abstract

Hb Malay was first described in 1989 following an investigation of anaemia in a 22-year-old Malay gentleman who was homozygous for this  chain variant. This Hb variant is caused by AAC  AGC mutation at codon 19 of the  globin gene resulting in the substitution of serine for asparagine [1]. The mutation creates cryptic RNA splice site in exon 1 of the -globin gene leading to an abnormal RNA processing. Thus, this mutation not only produces variant haemoglobin but also a mild + thalassemia phenotype [2].