Genetic Approach in Diagnosis and Following Up of Patients With Thalassemia

Dear Colleagues,

Thalassemia syndromes occur due to significantly reduced synthesis of globin chains (α, β, γ, δ). α-thalassemia syndromes are caused by three groups of mutation types: approximately 200 deletions and point mutations and rare, large deletion mutations. More than 350 mutations have been identified in β-thalassemia syndromes, the majority of which are point mutations, as well as rare large gene deletions, dominant β-thalassemia mutations, and unusual cases of β-thalassemia.

Gene modifiers affecting β-thalassemia are important for the patient's phenotype. Primary modifiers, the location of mutations (β⁰, β^+, β⁺⁺) in different gene regions, affecting the associated phenotypic severity. Secondary modifiers are gene expressions that affect the amount and stability of α-globin chains, which disrupts the α/β globin balance. Tertiary modifiers are the result of the genes involved in γ-globin gene expression, HBS1L-MYB, BCL11A, KLF1 and C1orf77. Fourth modifiers are the genetic factors on the effect complication and prognosis.

Genetic diagnostics is essential for accurate identification, treatment planning, and prognosis in thalassemia. Conventional methods, including complete blood count (CBC), electrophoresis, and biochemical assays, provide initial insights but lack the precision of genetic techniques. Advanced genetic tools, including ARMS, MLPA, DNA sequencing, and next-generation sequencing (NGS), ensure accurate diagnosis and enable prenatal and postnatal detection. The advent of whole exome sequencing (WES) and whole genome analysis (WGS) has further improved diagnostic capabilities, allowing a better understanding of the genetic landscape of thalassemia.

Genetically, the rare and difficult thalassemia cases may be problems in diagnosis with traditional methods; therefore, new-generation sequencing is a promising method for rare thalassemia variations.

Topics of interest for publication include, but are not limited to, the following:

• Recent breakthroughs in beta-thalassemia genetics;
• Current developments in alpha-thalassemia genetics;
• Beta modifier genes in thalassemia;
• Genetic methods in diagnosing thalassemia;
• Difficult and rare cases of thalassemia;
• The importance of genetics in following up patients with thalassemia.

Prof. Dr. Duran Canatan
Guest Editor

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• thalassemia
• beta modifier genes
• genetics methods
• importance of genetics
• rare cases