Hematologic Features of Alpha Thalassemia Carriers

Authors

  • Ahmad Tamaddoni Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran.
  • Ali Banihashemi - Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
  • Haleh Akhavan-Niaki Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.
  • Hassan Mahmoudi Nesheli Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran.
  • Mandana Azizi Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
  • Mohsen Vakili Ayatollah Roohani Hospital, Babol University of Medical Sciences, Babol, Iran.
  • Reza Youssefi Kamangari Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
  • Sadegh Sedaghat Ayatollah Roohani Hospital, Babol University of Medical Sciences, Babol, Iran.
  • Soraya Shabani Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
  • Vahid Kholghi Oskooei Cellular and Molecular Biology Research Center, 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.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

hematologic features of alpha thalassemia carriers

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...

full text

detection of unknown deletions in alpha globin genes in alpha thalassemia carriers using real-time pcr

objective: alpha-thalassemia is one of the most prevalent hemoglobin disorders in the world and it is a common hereditary condition caused by deletion of one or more α-globin genes. common α-thalassemia deletions like 3.7 kb, 4.2 kb, 20.5 kb and med can be detected by multiplex pcr. there are, however, some unknown deletions that can not be detected by the mentioned method or even by direct dna...

full text

Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia

Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to b...

full text

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.

Abnormalities of hemoglobin synthesis are usually inherited but may also arise as a secondary manifestation of another disease, most commonly hematologic neoplasia. Acquired hemoglobin disorders can be seen in any population and are not restricted to areas of the world with high incidences of inherited hemoglobinopathies. In fact, the acquired hemoglobinopathies may be more readily recognized w...

full text

Alpha Thalassemia Disorders

The thalassaemias, the commonest monogenic diseases, are a family of inherited disorders of haemoglobin synthesis characterised by a reduced output of one or other of the globin chains of adult haemoglobin. They are likely to pose an increasing health problem for many developing countries during the early part of the new millennium (1). This review focuses mainly on their control and management...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 1  issue None

pages  162- 167

publication date 2012-12

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023