Analysis of Alpha Thalassemia Mutations and its Correlation with Red Blood Cell Indices in Chahar Mahal va Bakhtiari Province, Iran

α-thalassemia is one of the common prevente hematological disorders in the Iranian population; knowing its most common mutations can improve the prenatal diagnosis of the disease. To date of this study، no comprehensive data were available on the prevalence of the disease in Chahar Mahal va Bakhtiari Province، Iran. For the first time، this study investigated the spectrum of α-thalassemia mutations and their correlation with red blood cell (RBC) indices in this region.

128 carriers who resided in the Chahar Mahal va Bakhtiari Province were evaluated for α-thalassemia mutations using gap polymerase chain reaction (GAP-PCR)، amplification refractory mutation system-polymerase chain reaction (ARMS-PCR)، multiplex-ligation-probe-dependent polymerase assay (MLPA) and sequencing methods. The RBC indices were measured. The data were analyzed using chi-square and t tests.

The presence of 6 deletions including α3. 7 (83. 2%)، α20. 5 (5. 9%)، αMED (5%)، α4. 2 (2. 5%)، del Hbz-Hba1 (0. 8%) and HS-40 (0. 8%) as well as the point mutation of Hb-CS (1. 7%) on the α-globin gene were approved. Analysis of correlation between different mean corpuscular volume (MCV) measures and α-thalassemia indicated that 78>MCV>75 was correlated with α3. 7، α4. 2 and Hb-CS mutation and MCV of less than 75 was correlated with α3. 7، α20. 5، αMED، and del Hbz-Hba1. Among the analyzed mutations، the only mutation with 78 < MCV < 80 or low MCV (< 80) and normal (> 27) mean corpuscular hemoglobin (MCH) was α3. 7. Interestingly، mutations with low (< 27) and normal (> 80) MCV were α3. 7 and Hb-CS، respectively.

Together، the data suggested the presence of a positive relationship between α-thalassemia mutations and RBC indices، which could facilitate rapid and efficient screening for these common mutations in the population of Chahar Mahal va Bakhtiari Province.