The molecular basis of alpha-thalassaemia in Thailand.

Winichagoon, Pranee; Higgs, Douglas R.; Goodbourn, S. E. Y.; Clegg, J. B.; Weatherall, D. J.; Wasi, P

doi:10.1002/j.1460-2075.1984.tb02051.x

Cited by 141 publications

(72 citation statements)

References 30 publications

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“…We first demonstrate the multienzyme purification technique for the cloning of a 6.8 kb fragment containing both an a°-thalassaemia deletion breakpoint (17,29) and a "hypervariable" sequence which is highly unstable in bacteriophage and cosmid vectors (18,19) (a-library). Purification of genomic DNA fragments generated by a single enzyme with size selection on an agarose gel followed by electroelution results in the exclusion of at least 80% of genomic sequences (unpublished data).…”

Section: Resultsmentioning

confidence: 99%

Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment

et al. 1985

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Section: Resultsmentioning

confidence: 99%

Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment

et al. 1985

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“…Geographically, the a°-thalassaemia deletions have a much limited distribution compared with the a + -thalassaemia deletions and analysis of polymorphic markers upstream of the --SEA and --MED breakpoints suggests that each mutant has arisen only once during evolution (Winichagoon et al, 1984). Private deletions, restricted to isolated communities are also known (Higgs et al, 1989).…”

Section: Discussionmentioning

confidence: 99%

A novel 33·3 kb deletion (‐ ‐KOL) in the alpha‐globin gene cluster: a brief report on deletional alpha‐thalassaemia in the heterogeneous eastern Indian population

Sarkar

Banerjee

Chandra³

et al. 2005

Br J Haematol

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Incidence of a-thalassaemia in the urban population of India, estimated by the presence of Hb Bart's in cord blood, ranges between 0AE5 and 18AE0% depending on the technique used for screening (Hassall et al, 1998). The molecular nature of the lesions causing alpha-thalassaemia in patients belonging to different geographical and ethnic backgrounds in the heterogeneous population of India has not been documented in detail, except in isolated studies on expatriates. One recent study describes a 0 deletions in Indian alpha-thalassaemia patients (Shaji et al, 2003 Case reportAn anomalous fragment of c. 500 bp length was reproducibly obtained (Fig 1A) in three individuals. The haematological parameters of these three probands are presented in Table Ia SummaryWe have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, --KOL, in the heterozygous state, encompassing the embryonic zeta2-globin and the duplicated alpha-globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha-thalassaemia patients are )3AE7 kb (16AE25%), )4AE2 kb (5%) and --SEA (3AE33%).

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“…Haematological values associated with acute clinical problems or within 3 months of transfusion were excluded. DNA was extracted from peripheral blood by routine measures (Old & Higgs, 1983) and used to ascertain HBA number (Winichagoon et al, 1984) and the HBB haplotype (Chang et al, 1995). Lactate dehydrogenase (LDH) was measured by enzymatic determination with an Abbott Architect instrument.…”

Section: Laboratory Methodsmentioning

confidence: 99%

Venous incompetence, poverty and lactate dehydrogenase in Jamaica are important predictors of leg ulceration in sickle cell anaemia

Cumming¹,

King²,

Fraser³

et al. 2008

Br J Haematol

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SummaryClinical features and potential risk factors for chronic leg ulceration (duration >6 months) in homozygous sickle cell (SS) disease were examined in 225 subjects in the Jamaican Cohort Study. Potential risk factors included the number of HBA genes, steady state haematology, serum lactate dehydrogenase (LDH), venous incompetence, and socio‐economic status. Chronic ulcers occurred in 53 subjects with the highest risk of ulcer development at 18 years. The prevalence was 29·5% and cumulative incidence 16·7%. Gender or α‐thalassaemia trait did not affect the incidence of leg ulcer. Ulceration was associated with lower haemoglobin, red cell count, fetal haemoglobin, and socio‐economic status and higher reticulocyte count, platelet count, serum LDH and venous incompetence in univariate analyses. Venous incompetence [Hazard Ratio (HR) 3·0–4·0] and socio‐economic status (HR 0·8) were most consistently associated with leg ulceration on multivariate analysis. Regression models incorporating serum LDH suggested this to be a stronger predictor than haematological indices. The prevalence of ulcers at 30% is less than previous estimates in Jamaica, probably reflecting the lack of ascertainment bias in the Cohort Study, and also a real secular decline. In Jamaica, venous incompetence, low socio‐economic status, and high serum LDH were the strongest predictors of chronic ulceration.

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The molecular basis of alpha-thalassaemia in Thailand.

Cited by 141 publications

References 30 publications

Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment

Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment

A novel 33·3 kb deletion (‐ ‐KOL) in the alpha‐globin gene cluster: a brief report on deletional alpha‐thalassaemia in the heterogeneous eastern Indian population

Venous incompetence, poverty and lactate dehydrogenase in Jamaica are important predictors of leg ulceration in sickle cell anaemia

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