Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patients

Abstract

Hemoglobin (Hb) gene disorders are one of the most common inherited diseases in Taiwan, which include alpha-thalassemia, beta-thalassemia, and Hb variants. In this study, we collected and analyzed mutations found in 930 patients with Hb gene disorders except Hb Bart's Hydrops and beta-thalassemia major. The patients included 650 cases of alpha-thalassemia, 225 cases of beta-thalassemia, 9 cases of alpha-thalassemia combined with beta-thalassemia, and 46 cases of Hb variants or Hb variants combined with alpha-thalassemia or beta-thalassemia. The most common type of alpha0-thalassemia and alpha++-thalassemia mutations in our study were the SEA type deletion and the alpha3.7 deletion, respectively; the most common beta-thalassemia mutation was the IVS-2 nt 654 C-->T mutation; and the most common Hb variant was the HbE. We compared the relationships between genotype and hematological phenotypes of various Hb gene disorders and found that different genotypes of alpha0-thalassemia have similar hematological features. In conclusion, the results of our study provide data of the complex interaction of thalassemias and Hb variants which might be useful for other researchers in this field.

Molecular Epidemiological Characterization and Health Burden of Thalassemia in Jiangxi Province, P. R. China

“…Not consent with the finding from most regions of southern China ( Table 2 ), HBB: c.316–197C>T was the most common β-thalassemia mutation (39.13%), followed with HBB: c.126_129delCTTT (30.43%), HBB: c.−78A>G (18.26%) and HBB: c.52A>T (4.35%) among the 115 β-thalassemia alleles. The situation that prevalence of HBB: c.316–197C>T mutation was higher than the prevalence of HBB: c.126_129delCTTT mutation, was only found from Hakka inhabited regions and surrounding areas, such as Fujian [17] , Taiwan [18] , [19] , Chaoshan region of eastern Guangdong [20] . According to our knowledge, β-globin gene mutations can be used as genetic markers to study the origin and spread of β-globin gene alleles, revealing historical relationships between populations [21] – [23] .…”

Bilirubin concentrations in thalassemia heterozygotes in university students

“…IDA was determined by serum iron, iron binding capacity, and transferrin levels (4). SEA deletion in α‐thalassemia was detected by PCR (18). PCR–fragment length polymorphisms (RFLPs) were adopted for the determinations of codon 41/42 (−TTCT), intervening sequences (IVS) II654 (C>T), −28 (A>G), and codon 17 (A>T) for β‐thalassemia (18).…”

“…SEA deletion in α‐thalassemia was detected by PCR (18). PCR–fragment length polymorphisms (RFLPs) were adopted for the determinations of codon 41/42 (−TTCT), intervening sequences (IVS) II654 (C>T), −28 (A>G), and codon 17 (A>T) for β‐thalassemia (18). The subjects diagnosed as α‐ or β‐thalassemia carriers were then further investigated as follows.…”

Risk of Erectile Dysfunction in Transfusion-naive Thalassemia Men

“…Most patients with thalassemia in our country were silent thalassemia carriers or had concealed thalassemia traits. 14 , 15 Although relatively more cases were included in the present study than in other previous studies, it is likely that the patients in our study who were diagnosed with thalassemia had more severe clinical features and presented to medical services with complications, which led to the diagnosis of their thalassemia; or that these patients presented with nonhematological diagnoses and then were subsequently found to also have thalassemia during blood tests performed to investigate the presenting condition. Although more thalassaemia patients were included in this study, still very small numbers of these had ED.…”