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Correspondence to Author: Rait Vijan, and Abdulder Sod. 

University for Modern Sciences and Arts (MSA), Giza 12451,Egypt.

Abstract:

The polyadenylation (PA) signal of HBA2 (α PA:A→G) has a 30-UTR (3 primary untranslated region) single-nucleotide substitution due to the mutation HBA2:c.*94A>G (AATAAA>AATAAG; rs63751269). In the Arabian Peninsula, this pathogenic variant (CADD score: 14.92) occurs occasionally. It leads to transcription termination, ineffective mRNA processing, and maybe the use of a different, cryptic downstream polyadenylation signal. Because of this, premarital counseling regarding the fetal risk of hemoglobin H illness is complicated by the allele α T (or α T-Saudi). The moderate-to-severe microcytosis (mean red cell volume, MCV, 55 to 65 fL) caused by homozygous HBA2:c.*94A>G (α Tα/α Tα) indicates significantly reduced hemoglobin synthesis (hemoglobin H illness). NM_000517.4:c.[-2_-3delAC; −α 3.7] is a 3804-neocleotide deletion allele that causes mild microcytosis (MCV, 70 to 75 fL, alpha-thalassemia phenotype) when homozygous rightward −α 3.7. HBA2:c.*94A>G is therefore more harmful than −α 3.7. In compound heterozygosity, HBA2:c.*94A>G and −α 3.7, the MCV value is consistently 65 to 70 fL. A healthy couple that sought premarital counseling over their hemoglobinopathy is the subject of this study. The lady is compound heterozygous (−α 3.7/α Tα, also known as −3.7α/α Tα), while the guy is homozygous for HBA2:c.*94A>G (α Tα/α Tα).Their children would therefore have either the mother’s (−α 3.7/α Tα) or father’s (α Tα/α Tα) genotype. The parents’ benign characteristics served as the primary foundation for the counseling. They married since neither of them had any symptoms and their anemia was clinically negligible.

Keywords: Arabian Peninsula; HBA2; HBA1; hemoglobin H disease..

Citation:

Dr.Rait Vijan, Alpha Thalassemia Allele Premarital Counseling (Hba2:C.*94a>G). World Journal Of Biology 2025.