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Alpha thalassemia genotypes in Kuwait

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. This is a retrospective study of the [alpha]-...

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Published in:BMC medical genetics 2020-08, Vol.21 (1), p.1-170, Article 170
Main Authors: Adekile, Adekunle, Sukumaran, Jalaja, Thomas, Diana, D'Souza, Thomas, Haider, Mohammad
Format: Article
Language:English
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Summary: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. This is a retrospective study of the [alpha]-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). 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 ([alpha].sup.PA-1[alpha]/[alpha] .sup.PA-1[alpha]) in 33.3% of the samples, followed by heterozygosity ([alpha][alpha]/[alpha] .sup.PA-1[alpha]) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the [alpha].sup.0 (--.sup.MED) allele was 0.017. Rare alleles that were found in very low frequencies included [alpha].sup.0 (--.sup.FIL) in a Filipino child, Hb Constant Spring, Hb Adana, and Hb Icaria. 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 ([beta]4 tetramer) disease phenotype. The [alpha].sup.0 (-.sup.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).
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-020-01105-y