The XmnI locus, rs11886868, and rs766432 have a modifying effect on HbF and clinical score in HbE/β-thal patients in Indonesia, but not in β-thal patients.
Background and purposeThalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, East Kalimantan.MethodsThe research subjects consisted of 31 β-thalassemia patients registered with the Association of Thalassemia Patients' Parents (POPTI) of Samarinda. DNAs were extracted from the patients' blood samples then amplified by the direct sequencing technique with polymerase chain reaction to analyze β-globin gene mutations.ResultThe study results show that the male/female ratio was 51.6%:48.4%, the patients' ages ranged from 4 years to 56 years with an average age of 14 years, and the dominant ethnic group was Javanese (64.5%). The DNA analysis yielded 7 types of mutant alleles, namely Cd26/HbE (GAG>AAG) at 48.4%, IVS-1-5 (G > C) at 14.5%, IVS-1-2 (T > C) at 12.9%, Cd35 (-C) at 8.1%, IVS-1-1 (G > T) at 6.5%, and, the least frequently encountered mutant alleles, Cd30 (AGG > ACG) and Cd60 (GTG > GAG) each at 3.2%.ConclusionThis study discovered unreported mutant in Indonesia, namely Cd60 (GTG > GAG).
Hematology tests are examinations that aim to know the state of blood and its components, one of which is leukocytes. Hematologic examinations such as the number and morphology of blood generally still done manually, especially by a specialist pathologist. Despite the fact that today there is equipment that can identify morphological automatically, but for developing countries like Indonesia, it can only be done in the capital city. Low accuracy due to the differences identified either by doctors or laboratory staff, makes a great reason to use computer assistance, especially with the rapid technological developments at this time. In this paper, we will emphasize our experiment to screen leucocyte cell nucleus by identifying the contours of the cell nucleus, diameter, circumference and area of these cells based on digital image processing techniques, especially using the morphological image. The results obtained are promising for further development in the development of computer-aided diagnosis for identification of leukocytes based on a simple and inexpensive equipment.
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