Mutations associated with β-thalassemia intermedia in Kuwait

Adekunle D. Adekile, Mohammad Z. Haider, Aleksandar Dimovski, Ferdane Kutlar, Wafaa Qubbaj, Abdullah Kutlar

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Kuwait is located at the northeast corner of the Arabian Peninsula and has a population of about 2 million, made up of 35% indigenes and 65% expatriates. The country was founded in the late 17th century by immigrants from Saudi Arabia, Iraq and Iran. Therefore, as in other Gulf Arab countries, the population is highly heterogeneous. In a previous study (Acta Haematol 92:176, 1994) of 123 β-thal chromosomes, we identified 12 (mainly Mediterranean, Asian and Kurdish) mutations. El-Kalla and Matthews (Hemoglobin 21:237, 1997) found 35 mutations among their patients from the UAE. In the present study, we have focussed on β-thal intermedia patients to identify the associated mutations in order to facilitate early diagnosis and counseling. All the patients had phenotypic and hématologie profiles consistent with either β-thal homozygosity or compound heterozygosity and both parents had hématologie features of β-thal trait. The patients were aged above 3 years and did not require regular blood transfusion. DNA was isolated from peripheral leukocytes and the β-thal mutations were identified with a combination of PCR amplification, allele-specific oligonucleotide hybridization or direct sequencing. They were also screened for the cx2-globin gene -3.7 kb deletion. There were 15 patients from 11 unrelated families, with ages ranging from 4 to 29 years. Three patients were homozygous for the IVS-II-1 (G->A) mutation, 2 were compound heterozygous for this and the CD 8 (-AA) mutation, 2 were compound heterozygous for this and the - 28 (A~>C) mutation. There were 3 patients homozygous for the IVS-I-6 (T->C) mutation, while 2 were compound heterozygous for this and the CD 19 (A->G; Hb Malay). There were 3 (siblings) compound hétérozygotes for the CD 8 (-AA) and the -101 (C->T) mutations. One patient was compound heterozygous for the IVS-I-110 (G->A) mutation and the Sicilian 8β° deletion. The 3 IVS-II-1 homozygotes, the IVS-II-l/CD 8 and IVS-II1/-28 compound hétérozygotes also had associated (X-thal-2 heterozygosity, otherwise all the others had aa/oca genotype. Homozygosity or compound heterozygosity involving the mild β" mutation, IVS-II-1 (G->A) and the βmutation, IVS-I-6 (T->C) is associated with the intermedia phenotype in 9 (82%) of the 11 families in this study. Associated cxthal trait is also important especially among IVS-II-1 homozygotes.

Original languageEnglish (US)
Issue number11 PART II
StatePublished - Dec 1 2000

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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