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 language | English (US) |
|---|---|
| Pages (from-to) | 69-72 |
| Number of pages | 4 |
| Journal | Medical Principles and Practice |
| Volume | 14 |
| Issue number | SUPPL. 1 |
| DOIs | |
| State | Published - Aug 26 2005 |
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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 journal › Article
}
TY - JOUR
T1 - Mutations associated with beta-thalassemia intermedia in Kuwait
AU - Adekile, Adekunle
AU - Haider, Mohammad
AU - Kutlar, Ferdane
PY - 2005/8/26
Y1 - 2005/8/26
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.
KW - Kuwait
KW - β-Thalassemia intermedia
UR - http://www.scopus.com/inward/record.url?scp=23844531503&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=23844531503&partnerID=8YFLogxK
U2 - 10.1159/000086186
DO - 10.1159/000086186
M3 - Article
C2 - 16103715
AN - SCOPUS:23844531503
VL - 14
SP - 69
EP - 72
JO - Medical Principles and Practice
JF - Medical Principles and Practice
SN - 1011-7571
IS - SUPPL. 1
ER -