Mutations associated with beta-thalassemia intermedia in Kuwait.
OBJECTIVE
To identify the beta-globin gene mutations associated with beta-thalassemia (beta-thal) intermedia in Kuwait.


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. Beta-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 alpha2-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 deltabeta0 deletion. Therefore, homozygosity for two typically mild mutations (IVS-II-1 and IVS-I-6) accounted for 61% of the genotypes in our patients.


CONCLUSIONS
Our results indicate that screening should commence with these two common alleles in Kuwaiti patients presenting with beta-thal syndrome. Early identification of intermedia patients will avoid the complications following an unnecessary hypertransfusion program.
Adekile
Adekunle
A
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait. adekile@hsc.edu.kw
Haider
Mohammad
M
Kutlar
Ferdane
F
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D005914:Globins / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D007730:Kuwait; D008297:Male; D009154:Mutation / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D005914:Globins