South East Asian ovalocytosis associated with band 3 gene deletion in Malay neonates in Kelantan

• Main Author: Abdullah, Salimah
• Format: Thesis
• Language: English
• Published: 2002
• Subjects: RB Pathology
• Online Access: http://eprints.usm.my/36353/1/Dr_Salimah_Abdullah_-_TNM_%28NN24%29.pdf; http://eprints.usm.my/36353/

Ovalositosis Asia Tenggara (SAO) tersebar luas di kalangan kumpulankumpulan etnik di Malaysia, Papua New Guinea, Filipina, Indonesia dan Thailand. Individu-individu heterozigus yang terkesan daripadanya tidak menunjukkan simptosimptom tertentu tetapi satu penemuan yang baru telah menunjukkan bahawa individu-individu yang berkaitan telah menunjukkan kesan-kesan hemolisis dan pertambahan kandungan bilirubin di dalam aliran darah. Punca di peringkat molekular adalah disebabkan oleh kewujudan deletan 27 pasangan bes pada gen band 3 di kromoson 17. Gen ini juga disebut gen anion-exchanger 1 (gen AE 1) dan basil proteinnya yang berfungsi sebagai pengangkut anion-anion membran, contohnya klorida dan bikarbonat. Exspresi protin band 3 juga terdapat pada eritrosit dan sel-sel alfa (a)- interkalasi yang terdapat di tubuh liku distal pada ginjal. Southeast Asian Ovalocytosis (SAO) is widespread in certain ethnic groups of Malaysia, Papua New Guinea, Philippines, Indonesia and Thailand. Affected heterozygous individuals are asymptomatic but a recent paper indicates that in some cases individuals present with signs of increasing haemolysis and hyperbilirubinaemia. The underlying molecular defect is due to the presence of a 27-bp deletion of the band 3 gene on chromosom 17. This gene is also described as anion-exchanger 1 gene (AE1 gene) and its protein product serves as a membrane transporter of anion, namely chlorides (Cl} and bicarbonates (HC03 ). Band 3 protein is also expressed in the alpha (a)- intercalated cells of the tubules in the kidney.