Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide including Malaysia. Screening of cord blood for partial G6PD deficiency is important as they are also prone to develop acute haemolysis. In this study, we determined the prevalence of partial G6PD deficient in paediatric population aged 1 month-12 years and normal term female neonates using OSMMR-D kit with haemoglobin (Hb) normalization and compare it with florescence spot test (FST). A total of 236 children, aged between between 1 month-12 years and 614 normal term female neonates were recruited for this study. Determination of normal means for G6PD activity and; cut-off points for partial and severe deficiency were determined according to WHO Working Group (1989). Determination of prevalence for partial deficiency for both groups (female patient) was done using this enzyme assay kit and findings were compared with FST. In this study, 15.7% (18/115) female children were classified as partial G6PD deficient by quantitative enzyme method (G6PD activity: 4.23-5.26U/gHb). However, FST only detected 0.9% (1/115) with minimal G6PD activity. The prevalence of partial G6PD deficiency in female neonate group was 3.42% (21/614) by enzyme assay versus 0.49% (3/614) by FST. This study concluded that our routine screening method using FST was unable to diagnose female heterozygotes. We recommend using this quantitative enzyme assay method by OSMMR-D kit since it was more sensitive in detecting G6PD deficiency in female neonates compared to FST.
Detection of Partial G6PD Deficiency using OSMMR2000-D Kit with Hb Normalization
Abstrak
Penyakit kekurangan glucose-6-phosphate-dehyrogenase (G6PD) merupakan penyakit kekurangan enzim paling lazim di dunia termasuklah Malaysia. Saringan kekurangan separa enzim ini menggunakan darah tali pusat adalah sangat penting memandangkan mereka juga berisiko untuk mendapat hemolisis akut. Dalam kajian ini, kadar prevalens bagi kekurangan separa G6PD ditentukan dengan menggunakan kit ujian OSMMR-D dimana ianya mengintegrasikan kaedah pernormalan hemoglobin dan kadarnya dibandingkan dengan kaedah ujian titik pendafluoran (FST). Sejumlah 236 subjek dari kalangan kanak-kanak, berumur di antara 1 bulan hingga 12 tahun dan; 614 bayi-bayi perempuan telah dipilih untuk kajian ini. Penentuan julat normal aktiviti G6PD dan; paras penentu untuk kekurangan separa dan sepenuhnya ditentukan mengikut WHO Working Group (1989). Kadar prevalens untuk kekurangan separa untuk kedua-dua kumpulan pesakit (perempuan) dibuat menggunakan kit esei enzim ini dan keputusannya dibandingkan dengan FST. Dalam kajian ini, didapati 15.7% (18/115) kanak-kanak perempuan diklasifikasikan kekurangan separa G6PD menerusi kaedah ujian esei enzim (aktiviti G6PD: 4.23-5.26U/gHb), tetapi FST hanya dapat mengesan 0.9% (1/115) yang mempunyai aktiviti G6PD minimal. Kadar prevalens kekurangan separa G6PD pada bayi-bayi perempuan adalah 3.42% (21/614) menggunakan ujian esei enzim berbanding 0.49% (3/614) menggunakan FST. Kesimpulannya, hasil kajian ini membutikan bahawa ujian FST gagal mengesan pesakit kekurangan separa G6PD (heterozigot). Sehubungan dengan itu, kami menyarankan penggunaanujian kuantitatif esei G6PD dengan OSMMR-D kit memandangkan ianya lebih sensitif untuk mengesan penyakit kekurangan G6PD dalam bayi-bayi perempuan berbanding dengan FST.
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