Mutations associated with beta-thalassemia intermedia in Kuwait

Adekunle Adekile, Mohammad Haider, Ferdane Kutlar

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Objective: To identify the β-globin gene mutations associated with β-thalassemia (β-thal) intermedia in Kuwait. Subjects and Methods: Eighteen patients from 13 unrelated families, mean age 12.7 ± 8.1 years, range 4-31 years, were involved in the study. They did not require regular blood transfusion. Complete blood count and cation exchange high-performance liquid chromatography hemoglobin quantitation were carried out using standard techniques. β-Thal mutations were identified with a combination of PCR amplification, allele-specific oligonucleotide hybridization or direct DNA sequencing. The patients were also screened for the α2-globin gene (-3.7 kb) deletion. Results: Of the 13 families, 4 were homozygous for the IVS-I-II (G→A) and 4 for the IVS-I-6 (T→C) mutations, while 1 each was a compound heterozygote for the following mutation combinations: CD 8 (-AA) and -101 (C→T); IVS-I-6 (T→C) and CD 19 (A→G); IVS-II-1 (G→A) and -28 (A→C); IVS-I-110 (G→A) and δβ0 deletion. Therefore, homozygosity for two typically mild mutations (IVS-II-1 and IVS-I-6) accounted for 61% of the genotypes in our patients. Conclusion: Our results indicate that screening should commence with these two common alleles in Kuwaiti patients presenting with β-thal syndrome. Early identification of intermedia patients will avoid the complications following an unnecessary hypertransfusion program.

Original languageEnglish (US)
Pages (from-to)69-72
Number of pages4
JournalMedical Principles and Practice
Volume14
Issue numberSUPPL. 1
DOIs
StatePublished - Aug 26 2005

Fingerprint

Kuwait
beta-Thalassemia
Mutation
Globins
Alleles
Blood Cell Count
Heterozygote
DNA Sequence Analysis
Oligonucleotides
Blood Transfusion
Genes
Cations
Hemoglobins
Genotype
High Pressure Liquid Chromatography
Polymerase Chain Reaction

Keywords

  • Kuwait
  • β-Thalassemia intermedia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mutations associated with beta-thalassemia intermedia in Kuwait. / Adekile, Adekunle; Haider, Mohammad; Kutlar, Ferdane.

In: Medical Principles and Practice, Vol. 14, No. SUPPL. 1, 26.08.2005, p. 69-72.

Research output: Contribution to journalArticle

Adekile, Adekunle ; Haider, Mohammad ; Kutlar, Ferdane. / Mutations associated with beta-thalassemia intermedia in Kuwait. In: Medical Principles and Practice. 2005 ; Vol. 14, No. SUPPL. 1. pp. 69-72.
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abstract = "Objective: To identify the β-globin gene mutations associated with β-thalassemia (β-thal) intermedia in Kuwait. Subjects and Methods: Eighteen patients from 13 unrelated families, mean age 12.7 ± 8.1 years, range 4-31 years, were involved in the study. They did not require regular blood transfusion. Complete blood count and cation exchange high-performance liquid chromatography hemoglobin quantitation were carried out using standard techniques. β-Thal mutations were identified with a combination of PCR amplification, allele-specific oligonucleotide hybridization or direct DNA sequencing. The patients were also screened for the α2-globin gene (-3.7 kb) deletion. Results: Of the 13 families, 4 were homozygous for the IVS-I-II (G→A) and 4 for the IVS-I-6 (T→C) mutations, while 1 each was a compound heterozygote for the following mutation combinations: CD 8 (-AA) and -101 (C→T); IVS-I-6 (T→C) and CD 19 (A→G); IVS-II-1 (G→A) and -28 (A→C); IVS-I-110 (G→A) and δβ0 deletion. Therefore, homozygosity for two typically mild mutations (IVS-II-1 and IVS-I-6) accounted for 61{\%} of the genotypes in our patients. Conclusion: Our results indicate that screening should commence with these two common alleles in Kuwaiti patients presenting with β-thal syndrome. Early identification of intermedia patients will avoid the complications following an unnecessary hypertransfusion program.",
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N2 - Objective: To identify the β-globin gene mutations associated with β-thalassemia (β-thal) intermedia in Kuwait. Subjects and Methods: Eighteen patients from 13 unrelated families, mean age 12.7 ± 8.1 years, range 4-31 years, were involved in the study. They did not require regular blood transfusion. Complete blood count and cation exchange high-performance liquid chromatography hemoglobin quantitation were carried out using standard techniques. β-Thal mutations were identified with a combination of PCR amplification, allele-specific oligonucleotide hybridization or direct DNA sequencing. The patients were also screened for the α2-globin gene (-3.7 kb) deletion. Results: Of the 13 families, 4 were homozygous for the IVS-I-II (G→A) and 4 for the IVS-I-6 (T→C) mutations, while 1 each was a compound heterozygote for the following mutation combinations: CD 8 (-AA) and -101 (C→T); IVS-I-6 (T→C) and CD 19 (A→G); IVS-II-1 (G→A) and -28 (A→C); IVS-I-110 (G→A) and δβ0 deletion. Therefore, homozygosity for two typically mild mutations (IVS-II-1 and IVS-I-6) accounted for 61% of the genotypes in our patients. Conclusion: Our results indicate that screening should commence with these two common alleles in Kuwaiti patients presenting with β-thal syndrome. Early identification of intermedia patients will avoid the complications following an unnecessary hypertransfusion program.

AB - Objective: To identify the β-globin gene mutations associated with β-thalassemia (β-thal) intermedia in Kuwait. Subjects and Methods: Eighteen patients from 13 unrelated families, mean age 12.7 ± 8.1 years, range 4-31 years, were involved in the study. They did not require regular blood transfusion. Complete blood count and cation exchange high-performance liquid chromatography hemoglobin quantitation were carried out using standard techniques. β-Thal mutations were identified with a combination of PCR amplification, allele-specific oligonucleotide hybridization or direct DNA sequencing. The patients were also screened for the α2-globin gene (-3.7 kb) deletion. Results: Of the 13 families, 4 were homozygous for the IVS-I-II (G→A) and 4 for the IVS-I-6 (T→C) mutations, while 1 each was a compound heterozygote for the following mutation combinations: CD 8 (-AA) and -101 (C→T); IVS-I-6 (T→C) and CD 19 (A→G); IVS-II-1 (G→A) and -28 (A→C); IVS-I-110 (G→A) and δβ0 deletion. Therefore, homozygosity for two typically mild mutations (IVS-II-1 and IVS-I-6) accounted for 61% of the genotypes in our patients. Conclusion: Our results indicate that screening should commence with these two common alleles in Kuwaiti patients presenting with β-thal syndrome. Early identification of intermedia patients will avoid the complications following an unnecessary hypertransfusion program.

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