en زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;"><em><strong>Background:</strong></em> alpha-Thalassemia is caused primarily by deletions of one to two alpha-globin genes and is&nbsp;characterized by absent or deficient production of alpha-globin protein. The South-East Asia (SEA) deletion,&nbsp;3.7-kb and 4.2-kb deletions are the most common causes. The present study aimed to observe the molecular&nbsp;characteristics of this common alpha-Thalassemia deletions and analyse its haematological parameter.<br> <br> <strong><em>Methods:</em></strong> Blood samples from 173 healthy volunteers from thalassemia carrier screening in Yogyakarta&nbsp;Special Region were used. Haematological parameters were analysed and used to predict the carrier subjects.&nbsp;Genotype of suspected carriers was determined using multiplex gap-polymerase chain reaction and its&nbsp;haematological parameters were compared. The boundary site of each deletion was determined by analysing&nbsp;the DNA sequences.<br> <br> <em><strong>Results:</strong></em> Seventeen (9.8%) of the volunteers were confirmed to have alpha-Thalassemia trait. Of these, four&nbsp;genotypes were identified namely &ndash;&alpha;3.7/&alpha;&alpha; (58.8%), &ndash;&alpha;4.2/&alpha;&alpha; (5.9%), &ndash;&alpha;3.7/&ndash;&alpha;4.2 (5.9%) and &ndash; &ndash;SEA/&alpha;&alpha; (29.4%).&nbsp;The 5&prime; and 3&prime; breakpoints of SEA deletion were located at nt165396 and&nbsp; nt184700 of chromosome 16,&nbsp;respectively. The breakpoint regions of 3.7-kb deletion were 176-bp long, whereas for 4.2-kb deletion were&nbsp;321-bp long. The haematological comparison between normal and those with alpha-Thalassemia trait&nbsp;genotype indicated a significant difference in mean corpuscular volume (MCV) (p< 0.001) and mean&nbsp;corpuscular haemoglobin (MCH) (p< 0.001). As for identifying the number of defective genes, MCH&nbsp;parameter was more reliable (p= 0.003).<br> <br> <em><strong>Conclusions:</strong></em> The resultant molecular and haematological features provide insight and direction for future&nbsp;thalassemia screening program in the region.</div> Allelic Imbalance, Alpha-Thalassemia, Indonesia, Multiplex Polymerase Chain Reaction, Sequence Deletion. 346 353 http://rbmb.net/browse.php?a_code=A-10-738-1&slc_lang=en&sid=1 Nailil Husna 100319475328460012508 100319475328460012508 No Department of Tropical Biology, Faculty of Biology, Universitas Gadjah Mada, Indonesia. Niken Satuti Nur Handayani niken_satuti@ugm.ac.id. 100319475328460012509 100319475328460012509 Yes Department of Tropical Biology, Faculty of Biology, Universitas Gadjah Mada, Indonesia.