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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Abstract
Haemoglobin (Hb) Malay is variant haemoglobin
with a β ++ thalassemia phenotype. The prevalence of Hb
Malay in the Malaysian population was 5.5%. We de-
scribe a 58-year-old male who presented with symptomatic
anaemia to the Hospital Universiti Sains Malaysia. Fur-
ther history revealed that the patient had anaemia since
the age of 28, and on regular follow-up at other hospi-
tal. Physical examination revealed pallor, jaundice and
hepatosplenomegaly. The full blood count and peripheral
blood smear showed hypochromic microcytic anaemia
with anisopoikilocytosis, and many target cells. High-
performance liquid chromatography results showed a β
thalassemia trait. However, the diagnosis does not alight
with the patient’s condition. Bone marrow aspirate was
completed and showed reactive changes and erythroid
hyperplasia. A molecular test was then performed for β
globin gene mutation detection using Multiplex Ampli-
fication Refractory Mutation System (M-ARMS) PCR
method. This revealed the result as homozygous codon
19 mutation or Hb Malay. Therefore, in this case report
we would like to highlight the laboratory approaches, the
challenges faced by the usual haematological investiga-
tions and the importance role of molecular testing in the
diagnosis of severe anaemia.
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