A Study on Molecular Basis of Hypochromic Microcytic Anemia in Myanmar

We studied on molecular characterization of patients with hypochromic microcytic anemia (HMA) from Myanmar. HMA were clarified by Complete Blood Count (CBC) data using Coulter's automated blood cell counter. Hemoglobin analysis was performed by IEF and HPLC to detect abnormal hemoglobins and to estimate the proportions. Multiplex polymerase chain reaction was used for detection of ar-thalassemia mutations and, PCR-direct DNA sequencing was also conducted to determine point mutations of globin genes especially focused on ocl globin gene and (3 globin gene. Among 72 patients, 64 (88.9%) had abnormalities of globin gene and these were or-thalassemia mutations, Hb E and /?-thalassemia mutations. The or-thalassemias were detected in 73.3% and their phenotypes were distributed as 36.1%, 30%, and 6.9% for or-thalassemia-2, or-thalassemia-1 and Hb H disease, respectively. The genotypes of these expressed -a3J/aa, -a3J/-a3J, -SEA/arar, --SEA/-ar37, ~SEA/acsa and, therefore -a3J or-thalassemia mutation is the commonest type in Myanmar. Hb E was found in 34.7% of HMA patients and /?-thalassemia was detected in only 4 patients in combination with Hb E and ar-thalassemia. Prevalence of a- thalassemia mutation is unexpectedly high in this study.

SHWE K, et al