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
|
|
CASE REPORT
A 58-year-old male presented with symptomatic
anaemia. Further history revealed that the patient has had anaemia since the age of 28 and on regular transfusion
and follow-up at other hospital. However, bleeding did not
manifest. The patient has no history of trauma or fever.
The patient also has no family history of haematological
disorders. The physical examination revealed pallor, jaun-
dice and hepatosplenomegaly (liver 13 cm and spleen 16
cm below costal margin) but no lymphadenopathy.
Laboratory results at presentation showed haemoglo-
bin (Hb) 5.9 g/dL, total leukocyte count 6.43 X 10 3 /µL,
MCV 48.9 fl, MCH15.4 pg MCHC31.5 g/dL and platelet
count350X 10 9 /L. Other investigations, including coagu-
lation profile (activated partial thromboplastin time, pro-
thrombin time and fibrinogen), liver and renal function
tests were all within normal ranges. The peripheral blood
smear showed hypochromic microcytic anaemia with
anisopoikilocytosis, and many target cells. Occasional
nucleated red blood cell. No eosinophilia or basophilia
(Figure 1).
Other investigations, including Hb analysis, high
performance liquid chromatography (HPLC) showed A
window (81.9%) with the presence of prominent peak at
F (10.6%) and A2/E (7.5%) normal range is 2% to 3.2%.
Alkaline gel electrophoresis showed prominent A2 band.
The impression of Hb Analysis is a β thalassemia trait. The
patient’s bone marrow aspirate (BMA) showed reactive
changes and erythroid hyperplasia. There was no evidence
of acute leukaemia and other haematological malignancy.
Later, Multiplex Amplification Refractory Mutation Sys-
tem (M-ARMS) PCR revealed homozygous codon 19
mutation/ Hb Malay.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
