Alpha thalassemia genotypes in Kuwait

Abstract

Background: The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred for molecular diagnosis over a 20-year period. Methods: This is a retrospective study of the α-globin genotypes obtained in the Hemoglobin Research Laboratory of the Department of Pediatrics, Kuwait University from 1994 to 2015. Genotyping was performed by a combination of PCR, allele-specific oligonucleotide hybridization and reverse dot blot hybridization (Vienna Lab Strip Assay). Results: Four hundred samples were characterized and analyzed from individuals aged < 1 month to 80 years, with a median of 6 years from 283 unrelated families. Most (90.8%) were Kuwaiti nationals. The commonest genotype was homozygosity for the polyadenylation-1 mutation (α PA-1 α/α PA-1 α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1 α) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the α 0 (−-MED) allele was 0.017. Rare alleles that were found in very low frequencies included α 0 (−-FIL) in a Filipino child, Hb Constant Spring, Hb Adana, and Hb Icaria. Conclusion: There is a wide variety of alpha thalassemia alleles among Kuwaitis, but nondeletional PA-1 is by far the most common cause of the moderate to severe HbH (β4 tetramer) disease phenotype. The α 0 (− MED) allele is also encountered, which has implications for premarital counseling, especially for the possibility of having babies with alpha thalassemia major (Barts hydrops fetalis).

impact of educational guidelines-based video-assisted on nurses' performance regarding pediatric blood transfusion-dependent β- thalassemia major

“…Children with transfusion-dependent thalassemia should get blood transfusions once or twice each month, depending on the severity of their disease. They might have to spend the entire transfusion day in the hospital as a result, which would interfere with their ability to learn and socialize (Adekile et al, 2020).…”