Hematologic Features of Alpha Thalassemia Carriers

Document Type : Original Article

Authors
Haleh Akhavan-Niaki 1 , 2
Reza Youssefi Kamangari 2
Ali Banihashemi 2
Vahid Kholghi Oskooei 1
Mandana Azizi 2
Ahmad Tamaddoni 3
Sadegh Sedaghat 4
Mohsen Vakili 4
Hassan Mahmoudi Nesheli 3
Soraya Shabani 2
1 Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran
2 Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran
3 Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran
4 Ayatollah Roohani Hospital, Babol University of Medical Sciences, Babol, Iran
Abstract
Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two
alpha globin genes out of four functional ones, with deletions being more common than point mutations. The
hematologic features are very important for the selection of the appropriate molecular tests while determining the
genotype. The aim of this study was to compare hematologic features of patients with various types of α globin
mutations. Hematological indices including red blood cells (RBC), hemoglobin concentration (Hb), mean cell
volume (MCV), mean cell hemoglobin (MCH), Mean corpuscular hemoglobin concentration (MCHC) and
percentage of Hemoglobin (HBA1, HBA2 and HBF) of seven-hundred and twenty two patients presenting ten
different α-thal genotypes were considered. All patients showed reduced MCV and/or MCH values.
Moreover, MCV and MCH were lower in patients with two functional alpha globin genes in comparison to
patients with one mutated alpha globin gene (P value<0.001). In conclusion, MCV and MCH values
can be helpful for the selection of the appropriate molecular tests to determine the genotype of alpha
thalassemia carriers.
Keywords
Alpha thalassemia
mean cell volume
mean cell hemoglobin
mutation