A Large β-Thalassemia Deletion in A Fay of Indonesian-Malay Descent

Dimovski, Aleksandar; Baysal, E.; Efremov, D. G.; Prior, John F.; Raven, J. L.; Ефремов, Г. Д.; Huisman, T. H. J.

doi:10.3109/03630269609005842

Cited by 13 publications

(15 citation statements)

References 20 publications

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“…This indicates a fairly high presence of β -thalassemia in the Kadazandusuns. The Filipino β -thalassemia deletion has been reported in a Filipino family, in two Australian families of Filipino descent, and in an Indonesian family of Malay descent [15–17]. The Filipino β -thalassemia deletion was first reported as a 45-kb deleted sequence in the β -globin gene [16].…”

Section: Resultsmentioning

confidence: 99%

High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

Tan

Lee

Wee

et al. 2010

Journal of Biomedicine and Biotechnology

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Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and β-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and β-thalassemia in the Kadazandusuns indicates that thalassemia screening, genetic counseling, and prenatal diagnosis should be included as part of their healthcare system. This preliminary paper serves as a baseline for further investigations into the health and genetic defects of the major indigenous population in Sabah, East Malaysia.

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Section: Resultsmentioning

confidence: 99%

High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

Tan

Lee

Wee

et al. 2010

Journal of Biomedicine and Biotechnology

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“…Most ␦ ␤-thalassemia or HPFHs are caused by a large deletion involving a variable extent of DNA segment on ␤-globin gene cluster. So far, at least forty types of HPFH or ␦ ␤-thalasse-mia deletions have been reported in the world [1][2][3][4][5][6][7], with four types of the two diseases being identified in Chinese cases [8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Molecular characterization and PCR detection of a deletional HPFH: Application to rapid prenatal diagnosis for compound heterozygotes of this defect with ?-thalassemia in a Chinese family

Liu

et al. 2000

Am. J. Hematol.

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Hereditary persistence of fetal hemoglobin (HPFH) is one of the hemoglobinopathies in which the fetal-globin genes remain active in adult life. Most HPFHs are caused by a large deletion involving a variable extent of DNA segment on the-globin gene cluster. We report the molecular defects associated with a deletional HPFH, which has previously been described in Cambodians and Vietnamese, in two unrelated Chinese individuals. To define the sequence around the breakpoints of the deletion, both the deletion junction fragment and the normal DNA across the breakpoints were cloned by PCR and se-quenced. We found that the 5 breakpoint is located between nucleotides 986 and 987 upstream from the startpoint of the-globin gene, which further confirmed the Southeast Asian (SEA) HPFH deletion previously determined, whereas the 3 breakpoint, which is clarified for the first time by us, lies approximately 2.3 kb downstream from the 3 HS1 site of the-globin gene. It is suggested that deletions were the result of a non-homologous recombination event. Based on our novel sequence data, we designed a PCR amplification method with three primers bridging the 3 breakpoint. With this method and reverse dot blot (RDB) for detecting-thalassemia mutations, a Chinese family that had a 6-year-old propositus with severe thalassemia intermediate and that had requested prenatal diagnosis for the second pregnancy was found to be compound heterozygotes of HPFH defects with-thalassemia. The fetal genomic DNA diagnosis showed the same results as those in propositus, i.e., both of them inherited the deletion from their mother and inherited a codons 14-15 (+G) frameshift mutation causing-thalassemia from their father. Am.

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“…In the Filipinos in this study, the IVS-II-654 (C]T), codons 41/42 (PTCTT), and IVS-I-5 (G]C) mutations were rarely found. On the other hand, the common Filipino mutations, i.e., bglobin gene deletion and codon 67 (PTG), were also rarely found in the neighboring countries [6]. In terms of the b-thal mutation spectrum, the Philippines seems quite different from other Southeast Asian countries.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and molecular characterization of β-thalassemia in Filipinos

Caviles²,

Hwa

et al. 1998

Annals of Hematology

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Beta-thalassemia (thal) is a common single-gene disease worldwide. However, the prevalence of beta-thal and the spectrum of beta-globin gene mutations in Filipinos remain unclear. This study sought to answer these two questions. A total of 2954 apparently healthy Filipinos in Taiwan were recruited for a prevalence study. A complete blood count was done in every subject. Those with microcytosis were studied with hemoglobin (Hb) high-performance liquid chromatography to determine the levels of Hb A2 and Hb F. Twenty-seven subjects had elevated levels of Hb A2 (>4.0%). These 27 suspected beta-thal carriers and another 16 beta-thal major patients who were being treated in the Philippines were studied to determine the spectrum of beta-globin gene mutations. Gap-PCR was used to detect the Filipino deletion of beta-thal, and direct sequencing was used to detect point or small mutations in the beta-globin gene. All of the 27 suspected beta-thal carriers had one mutation in the beta-globin gene, resulting in an overall prevalence of 0.9%. The spectrum of beta-thal mutations was similar in the carrier and patient groups. Analysis of the pooled identified seven different mutations in the study population. The Filipino deletion was the most common mutation, accounting for 45.8% (27/59) of the alleles, followed by codon 67 (-TG) (16 alleles), and Hb E (11 alleles). These three mutations accounted for 92% of the Filipino beta-thal alleles. Elucidation of the beta-thal mutations in Filipinos is useful for the genetic counseling and prenatal diagnosis of this disease.

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A Large β-Thalassemia Deletion in A Fay of Indonesian-Malay Descent

Cited by 13 publications

References 20 publications

High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

Molecular characterization and PCR detection of a deletional HPFH: Application to rapid prenatal diagnosis for compound heterozygotes of this defect with ?-thalassemia in a Chinese family

Prevalence and molecular characterization of β-thalassemia in Filipinos

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