hematologic features of alpha thalassemia carriers

Authors

haleh akhavan-niaki cellular and molecular biology research center, babol university of medical sciences, babol, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (babol university of medical sciences)

reza youssefi kamangari genetic laboratory of amirkola children hospital, babol university of medical sciences, babol, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (babol university of medical sciences)

ali banihashemi - genetic laboratory of amirkola children hospital, babol university of medical sciences, babol, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (babol university of medical sciences)

vahid kholghi oskooei cellular and molecular biology research center, babol university of medical sciences, babol, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (babol university of medical sciences)

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.

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Hematologic Features of Alpha Thalassemia Carriers

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Journal title:
international journal of molecular and cellular medicine

جلد ۱، شماره ۳، صفحات ۱۶۲-۱۶۷

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