Mutations associated with β-thalassemia intermedia in Kuwait

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

Research output: Contribution to journalArticle

Abstract

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)
JournalBlood
Volume96
Issue number11 PART II
StatePublished - Dec 1 2000

Fingerprint

Kuwait
Globins
beta-Thalassemia
Chromosomes
Oligonucleotides
Amplification
Hemoglobins
Blood
Genes
Mutation
DNA
Homozygote
hemoglobin Malay
Chromosomes, Human, Pair 12
Iraq
Middle East
Saudi Arabia
Iran
Blood Transfusion
Population

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Adekile, A. D., Haider, M. Z., Dimovski, A., Kutlar, F., Qubbaj, W., & Kutlar, A. (2000). Mutations associated with β-thalassemia intermedia in Kuwait. Blood, 96(11 PART II).

Mutations associated with β-thalassemia intermedia in Kuwait. / Adekile, Adekunle D.; Haider, Mohammad Z.; Dimovski, Aleksandar; Kutlar, Ferdane; Qubbaj, Wafaa; Kutlar, Abdullah.

In: Blood, Vol. 96, No. 11 PART II, 01.12.2000.

Research output: Contribution to journalArticle

Adekile, AD, Haider, MZ, Dimovski, A, Kutlar, F, Qubbaj, W & Kutlar, A 2000, 'Mutations associated with β-thalassemia intermedia in Kuwait', Blood, vol. 96, no. 11 PART II.
Adekile AD, Haider MZ, Dimovski A, Kutlar F, Qubbaj W, Kutlar A. Mutations associated with β-thalassemia intermedia in Kuwait. Blood. 2000 Dec 1;96(11 PART II).
Adekile, Adekunle D. ; Haider, Mohammad Z. ; Dimovski, Aleksandar ; Kutlar, Ferdane ; Qubbaj, Wafaa ; Kutlar, Abdullah. / Mutations associated with β-thalassemia intermedia in Kuwait. In: Blood. 2000 ; Vol. 96, No. 11 PART II.
@article{1085143ed9aa4a7889c705527bb1975b,
title = "Mutations associated with β-thalassemia intermedia in Kuwait",
abstract = "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 h{\'e}matologie profiles consistent with either β-thal homozygosity or compound heterozygosity and both parents had h{\'e}matologie 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 h{\'e}t{\'e}rozygotes 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 h{\'e}t{\'e}rozygotes 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.",
author = "Adekile, {Adekunle D.} and Haider, {Mohammad Z.} and Aleksandar Dimovski and Ferdane Kutlar and Wafaa Qubbaj and Abdullah Kutlar",
year = "2000",
month = "12",
day = "1",
language = "English (US)",
volume = "96",
journal = "Blood",
issn = "0006-4971",
publisher = "American Society of Hematology",
number = "11 PART II",

}

TY - JOUR

T1 - Mutations associated with β-thalassemia intermedia in Kuwait

AU - Adekile, Adekunle D.

AU - Haider, Mohammad Z.

AU - Dimovski, Aleksandar

AU - Kutlar, Ferdane

AU - Qubbaj, Wafaa

AU - Kutlar, Abdullah

PY - 2000/12/1

Y1 - 2000/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33748543641&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748543641&partnerID=8YFLogxK

M3 - Article

VL - 96

JO - Blood

JF - Blood

SN - 0006-4971

IS - 11 PART II

ER -