THE IMPORTANCE OF MOLECULAR BIOLOGICAL ANALYSIS FOR THE LABORATORY DIAGNOSTIC OF HOMOZYGOUS HAEMOGLOBIN MALAY
Bahar R, Zulkafli Z, Zulkeflee RH, Hassan MN, Rahman Wan S Wan Ab, Noor NH M, Ramli M, Hussin A, Abdullah AD, Iberahim S, Abdullah M, Yusoff S M
*Corresponding Author: Dr Zefarina Zulkafli, School of Medical Sciences, Universiti Sains
Malaysia, 16150, Kubang Kerian, Kelantan. Email address: zefarinazulkafli@gmail.com
page: 65
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INTRODUCTION
Almost 300 beta (β)-globin gene mutations have now
been characterized (http://globin.cse.psu.edu). Some mu-
tations completely inactivate the β gene, resulting in the
absence of β-globin production that leads to β 0 thalas-
semia. Other types of mutations allow the production of
some β globin and cause β + - or β ++ (“silent”) thalassemia
whereas β ++ has more β globin production compared to
β + . β 0 / β + /β ++ thalassemia phenotype depends on the site
and nature of the mutation. 1 Therefore, the clinical and
haematological spectrum of beta-thalassemia ranges from
silent carrier to clinically manifested conditions, including
severe transfusion dependent beta-thalassemia major and
beta-thalassemia intermedia. 2
The standard screening method for β-thalassemia in-
cludes full blood count (FBC), including the level of (MCV)
< 80 fL and/or (MCH)
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