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 retrosp...
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| Format: | Article |
| Language: | English |
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BMC
2020-08-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-020-01105-y |
| _version_ | 1831585863089258496 |
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| author | Adekunle Adekile Jalaja Sukumaran Diana Thomas Thomas D’Souza Mohammad Haider |
| author_facet | Adekunle Adekile Jalaja Sukumaran Diana Thomas Thomas D’Souza Mohammad Haider |
| author_sort | Adekunle Adekile |
| collection | DOAJ |
| description | 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 (αPA-1α/α PA-1α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1α) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the α0 (−-MED) allele was 0.017. Rare alleles that were found in very low frequencies included α0 (−-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 α0 (−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). |
| first_indexed | 2024-12-17T21:26:17Z |
| format | Article |
| id | doaj.art-99c2a2f12e884a2ca99aa806329829b6 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-17T21:26:17Z |
| publishDate | 2020-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-99c2a2f12e884a2ca99aa806329829b62022-12-21T21:32:01ZengBMCBMC Medical Genetics1471-23502020-08-012111510.1186/s12881-020-01105-yAlpha thalassemia genotypes in KuwaitAdekunle Adekile0Jalaja Sukumaran1Diana Thomas2Thomas D’Souza3Mohammad Haider4Department of Pediatrics, Faculty of Medicine, Kuwait UniversityDepartment of Pediatrics, Faculty of Medicine, Kuwait UniversityDepartment of Pediatrics, Faculty of Medicine, Kuwait UniversityDepartment of Pediatrics, Faculty of Medicine, Kuwait UniversityDepartment of Pediatrics, Faculty of Medicine, Kuwait UniversityAbstract 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 (αPA-1α/α PA-1α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1α) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the α0 (−-MED) allele was 0.017. Rare alleles that were found in very low frequencies included α0 (−-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 α0 (−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).http://link.springer.com/article/10.1186/s12881-020-01105-yAlpha thalassemiaHemoglobin H diseaseKuwait |
| spellingShingle | Adekunle Adekile Jalaja Sukumaran Diana Thomas Thomas D’Souza Mohammad Haider Alpha thalassemia genotypes in Kuwait BMC Medical Genetics Alpha thalassemia Hemoglobin H disease Kuwait |
| title | Alpha thalassemia genotypes in Kuwait |
| title_full | Alpha thalassemia genotypes in Kuwait |
| title_fullStr | Alpha thalassemia genotypes in Kuwait |
| title_full_unstemmed | Alpha thalassemia genotypes in Kuwait |
| title_short | Alpha thalassemia genotypes in Kuwait |
| title_sort | alpha thalassemia genotypes in kuwait |
| topic | Alpha thalassemia Hemoglobin H disease Kuwait |
| url | http://link.springer.com/article/10.1186/s12881-020-01105-y |
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