Detection of α-thalassaemia in neonates on cord blood and dried blood spot samples by capillary electrophoresis
- Author:
Hafiza Alauddin
;
Mustafa Langa
;
Malisa Mohd Yusoff
;
Raja Zahratul Azma Raja Sabudin
;
Mpath, Azlin Ithnin
;
Noor Hamidah Hussin
- Publication Type:Journal Article
- Keywords:
neonatal α-thalassaemia screening, α-thalassaemia, capillary electrophoresis, cord blood
- From:The Malaysian Journal of Pathology
2017;39(1):17-23
- CountryMalaysia
- Language:English
-
Abstract:
Haemoglobin Bart’s (Hb Bart’s) level is associated with α-thalassaemia traits in neonates,
enabling early diagnosis of α-thalassaemia. The study aimed to detect and quantify the Hb Bart’s
using Cord Blood (CB) and CE Neonat Fast Hb (NF) progammes on fresh and dried blood spot
(DBS) specimen respectively by capillary electrophoresis (CE). Methods: Capillarys Hemoglobin
(E) Kit (for CB) and Capillarys Neonat Hb Kit (for NF) were used to detect and quantify Hb Bart’s
by CE in fresh cord blood and dried blood spot (DBS) specimens respectively. High performance
liquid chromatography (HPLC) using the β-Thal Short Programme was also performed concurrently
with CE analysis. Confirmation was obtained by multiplex ARMS Gap PCR. Results: This study
was performed on 600 neonates. 32/600 (5.3%) samples showed presence of Hb Bart’s peak using
the NF programme while 33/600 (5.5%) were positive with CB programme and HPLC methods.
The range of Hb Bart’s using NF programme and CB programme were (0.5–4.1%) and (0.5-7.1%),
respectively. Molecular analysis confirmed all positive samples possessed α-thalassaemia genetic
mutations, with 23/33 cases being αα/--SEA, four -α3.7/-α3.7, two αα/-α3.7 and three αα/ααCS. Fifty Hb
Bart’s negative samples were randomly tested for α-genotypes, three were also found to be positive
for α-globin gene mutations. Thus, resulting in sensitivity of 91.7% and 88.9% and specificity of
100% for the Capillarys Cord Blood programme and Capillarys Neonat Fast programme respectively.
Conclusion: Both CE programmes using fresh or dried cord blood were useful as a screening tool
for α-thalassaemia in newborns. All methods show the same specificity (100%) with variable, but
acceptable sensitivities in the detection of Hb Bart.
- Full text:P020170515568654310922.pdf
