Genetic Analysis of Candidate Modifier Polymorphisms in Hb E‐β⁰‐Thalassemia Patients

Abstract

Hemoglobin E (Hb E)-beta-thalassemia patients display a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major. Given this clinical heterogeneity, additional genetic factors modifying disease severity remain to be discovered. Association studies are being conducted to elucidate the role of genetic polymorphisms as disease severity modifiers in Hb E-beta-thalassemia patients. Using strict scoring criteria, 1060 Hb E-beta-thalassemia patients were categorized into mild, moderate, and severe groups. Taking a candidate gene approach, we found no statistically significant differences between the mild and severe patients groups in allelic or genotypic frequencies for single nucleotide polymorphisms within five genes known to influence globin gene expression and erythropoiesis.

Quantitative proteomics of plasma vesicles identify novel biomarkers for hemoglobin E/β-thalassemic patients

“…Several genotype-phenotype studies exploring the association between the AHSP gene and severity of thalassemia could not identify any correlation. [26][27][28] However, Bhattacharya et al 22 reported an increase of AHSP expression in thalassemic erythrocytes, which likely represents the original the source of AHSP for EVs.…”

HbE- THALASSEMIA: A CASE REPORT

“…Triplicated or quadruplicated α-globin genes increase the severity of E-thalassemia and occur in approximately 4% of the population. [7,8] The clinical course of E β-thalassemia is punctuated by acute and chronic complications that may cause serious morbidity and mortality. The marked expansion of erythropoiesis is responsible for much of the pathology of the disease including hepatosplenomegaly, extramedullary haematopoietic masses, growth retardation, delayed sexual maturation and bone deformities.…”

Faktor Risiko Hiperkoagulasi pada Thalassemia Anak

“…11 Semakin berat derajat thalassemia maka semakin berat proses hemolisis sehingga semakin bergantung pada transfusi darah dan meningkatkan risiko penumpukan besi. 12,13 Tipe thalassemia intermedia yang non-dependent transfusion terjadi hemolitik kronik berkepanjangan, peningkatan aktivitas prokoagulan kronis, dan akumulasi besi akibat peningkatan absorpsi besi intestinal dibandingkan dengan tipe thalassemia mayor. 14,15 Kadar hemoglobin yang lebih rendah terjadi akibat proses hemolitik yang lebih hebat.…”

“…22 Derajat thalassemia terdiri atas derajat ringan, sedang, dan berat. 12 Tipe thalassemia terdiri atas thalassemia mayor dan intermedia.…”