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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 1
140
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Original Articles

Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study

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Pages 42-46 | Received 12 Nov 2019, Accepted 15 Dec 2019, Published online: 06 Jan 2020
 

Abstract

β-Thalassemia (β-thal) is an inherited blood disorder caused by reduced or absent synthesis of β-globin chains leading to imbalance of globin chain synthesis. β0-Thalassemia (β0-thal), refers to the complete absence of β-globin chain production on the affected allele. β+-Thalassemia (β+-thal) refers to alleles with some residual production of β-globin chain. We studied the correlation of genotype/phenotype of β-thal disease in Syrian patients. A cross-sectional study was carried out on 260 patients with β-thal. Genotyping was determined by a DNA sequencing technique. Routine investigations were performed to assess the complete blood count (CBC), serum ferritin, Hb A2 and Hb F levels. We found that the β00 genotype was the most common in our patients followed by β++ and β0+. Patients with β00 received transfusions at an earlier age and more frequently when compared to those with β0+ and β++ genotypes. Moreover, patients with β00 had higher levels of Hb F and lower levels of Hb A2 compared to those with β0+ and β++ genotypes. All patients with β-thal intermedia (β-TI) carry the β++ genotype, while all patients with β00 and β0+ genotypes presented with transfusion-dependent β-thal major (β-TM).

Acknowledgments

We thank Professor M. Kabakebi, the president of Damascus University, Professor I. Othman, the Director General of the Atomic Energy Commission of Syria (AECS) and Professor A.H. Natoof, dean of Faculty of Pharmacy at Damascus University, Damascus, Syria for their support. We also thank the medical and laboratory staff of the National Thalassemia Center in Damascus, Syria for their help and guidance.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

We thank the Faculty of Pharmacy, Damascus University, Damascus, Syria for their financial support.

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