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Title: Hemoglobin E Allele Screening in Adolescent Girls at Kepanjen and Gondanglegi Districts, Malang Regency, East Java-Indonesia
Authors: Nadira R Batubara
Chris Adhiyanto
Umi Fahmida
Hans-Joachim Freisleben
Keywords: - thalassemia;hemoglobin E;HbE/+-thalassemia
Issue Date: Dec-2017
Publisher: Atlantis Press
Abstract: Woman in reproductive age have higher risk of iron deficiency anemia. However, there are other factors than iron deficiency that can cause anemia, such as genetic blood disorders or hemoglobinopathies. Hemoglobin E (HbE) is one of common blood disorders in Indonesia. HbE carriers have higher risk to have offspring inheriting HbE double mutation with other kinds of mild or severe -thalassemia. This research has the purpose to determine allele frequency of HbE in adolescent girls in Kepanjen and Gondanglegi districts, Malang regency. The research started with hematological screening of venous blood samples from the participants. As many as 70 blood samples underwent DNA sequencing to detect the mutation. From the sequencing results, there were 8 individuals detected with HbE single mutation and one individual with HbE/+-thalassemia double mutation. The individual with HbE/+-thalassemia had a hemoglobin level of 7.5 g/dL and mean corpuscular volume (MCV) of 59 m3 indicating moderately severe HbE/+-thalassemia. The clinical picture is caused by double mutation, one at codon 26 (HbE) and the other one at IVS1-5 (+-thalassemia). Both mutations cause disturbance in the pre-mRNA splicing process resulting in non-functional mRNA and a decrease in normal -globin (N) production along with higher production rate of E-mutated -globin (E). HbE allele frequency in adolescent girls in Kepanjen and Gondanglegi districts is 20%.
ISSN: 2468-5739
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