Phenotype score to grade the severity of thalassemia intermedia

Phadke, Shubha R.; Agarwal, Sugandha

doi:10.1007/bf02723137

Cited by 25 publications

(26 citation statements)

References 6 publications

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“…A number of hematological and clinical parameters have been used to generate severity criteria for b-thalassemia intermedia, including b-thalassemia/HbE disease (Phadke and Agarwal 2003;Premawardhena et al 2005;Sripichai et al 2008a). Premawardhena et al has classified 109 Sri Lanka b-thalassemia/HbE into five groups based on several criteria such as hemoglobin level, requirement for blood transfusion, age at diagnosis, spleen status, liver size, growth development, quality of life, sexual maturation, facial deformity, iron status, infection, leg ulcer, and gallstones.…”

Section: Discussionmentioning

confidence: 99%

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

et al. 2009

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b-Thalassemia/HbE disease is clinically variable. In searching for genetic factors modifying the disease severity, patients were selected based on their disease severities, and a genome-wide association study (GWAS) was performed. Genotyping was conducted with the Illumina Human 610-Quad BeadChips array using DNAs from 618 Thai b0-thalassemia/HbE patients who were classified as 383 severe and 235 mild phenotypes by a validated scoring system. Twenty-three SNPs in three independent genes/regions were identified as being significantly associated with the disease severity. The highest association was observed with SNPs in the b-globin gene cluster (chr.11p15), and rs2071348 of the HBBP1 gene revealed the most significant association [P = 2.96 9 10(-13), odds ratio (OR) = 4.33 (95% confidence interval (CI), 2.74-6.84)]. The second was identified in the intergenic region between the HBS1L and MYB genes (chr.6q23), among which rs9376092 was the most significant [P = 2.36 9 10(-10), OR = 3.07 (95% CI, 2.16-4.38)]. The third region was located in the BCL11A gene (chr.2p16.1), and rs766432 showed the most significant association [P = 5.87 9 10-10, OR = 3.06 (95% CI, 2.15-4.37)]. All three loci were replicated in an independent cohort of 174 Indonesian patients. The associations to fetal hemoglobin levels were also observed with SNPs on these three regions. Our data indicate that several genetic loci act in concert to influence HbF levels of beta(0)-thalassemia/HbE patients. This study revealed that all the three reported loci and the alpha-globin gene locus are the best and common predictors of the disease severity in beta-thalassemia.

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Section: Discussionmentioning

confidence: 99%

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

et al. 2009

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“…9,14 In 2003, Phadke et al 13 devised a novel scoring system based on six independent parameters, haemoglobin level, age at disease presentation, age at receiving first blood transfusion, requirement for transfusion, spleen size, and growth and development, which was able to separate patients into three distinctive severity categories: mild, moderate, and severe course . The scoring system included 6 phenotypic variables, each divided into 2 to 4 possible severities.…”

Section: 13mentioning

confidence: 99%

Predictors for Transfusion Requirement in Haemoglobin E-β Thalassemia

Mandal¹,

Prasad²,

Ghosal³

et al. 2017

IJMEDPH

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“…The mean Hb levels in various authors were 7.4 gm% to 7.5 gm%. 12,15 Such low Hb could be due to concurrent iron deficiency anemia. Patients with HbE hemoglobinopathy are usually asymptomatic with either normal hemoglobin levels or mild anemia in some cases.…”

Section: 12mentioning

confidence: 99%