Results 61 to 70 of about 1,044,639 (194)

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis [PDF]

open access: yes, 2009
Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α).
Tan, Mary Anne Jin Ai   +4 more
core   +1 more source

Deletional a-thalassemia 1 gene detection and hematological analysis in carrier with β-thalassemia

open access: yesJournal of Associated Medical Sciences, 2012
There are high prevalence of β-thalassemia and α-thalassemia in the upper Northern Thailand. Thus, the interaction between β-thalassemia and α-thalassemia can be occurred.
Sitthichai Panyasai
doaj  

Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment

open access: yesThalassemia Reports, 2022
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries.
Duantida Songdej, Suthat Fucharoen
doaj   +1 more source

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang   +7 more
wiley   +1 more source

Genetic and Clinical Characteristics of Thalassemia Trait and Construction of LASSO‐Based Model for Its Differentiating From Iron Deficiency Anemia in Northern China

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study revealed a β‐thalassemia‐trait‐dominated genetic spectrum in Northern‐Chinese patients with microcytic hypochromic anemia, with _αSEA/αα, HBB:c.316_197C>T and HBB:c.124_127delTTCT being the most prevalent α‐ and β‐globin genotypes. Using LASSO regression, we constructed a nomogram based on four routine complete‐blood‐count parameters (RBC ...
Wen‐jie Yu   +6 more
wiley   +1 more source

Diagnose Mutations Causes Î’-Thalassemia: Biomining Method Using an Optimal Neural Learning Algorithm

open access: yesInternational Journal of Engineering and Technology, 2019
The problems in genome and proteome classification of mutations causing a thalassemia are synthesis, e.g. which thalassemia's database will choose? and then the technique that used in biomining to classify mutations causing thalassemia who can say is effective/optimal.
openaire   +1 more source

Diagnosis of α-thalassemia using droplet digital PCR [PDF]

open access: yes, 2019
Most α-thalassemia occurs due to a large deletion in the α-globin gene. Common α-thalassemia with known mutations, such as Southeast Asian (SEA) type is readily diagnosed by Gap-PCR.
Mori, Kentaro   +9 more
core  

Hydroxyurea alters hematological, biochemical and inflammatory biomarkers in Brazilian children with SCA: Investigating associations with βS haplotype and α-thalassemia

open access: yes, 2019
This study investigated the effects of hydroxyurea (HU) on hematological, biochemical and inflammatory parameters in children with sickle cell anemia (SCA) in association with βS haplotype and α-thalassemia.
Camylla Vilas Boas Figueiredo (6954548)   +41 more
core   +1 more source

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities

open access: yesAnemia
Beta-thalassemia exhibits a broad phenotypic range influenced by the severity of HBB mutation and various genetic modifiers. One of the most essential modifiers is the coinheritance of α-globin gene mutation.
Sethapong Lertsakulbunlue   +3 more
doaj   +1 more source

Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing

open access: yesDi-san junyi daxue xuebao, 2020
Objective To investigate the genotypes and distribution characteristics of thalassemia in Chongqing. Methods A total of 108 140 peripheral blood samples were harvested from 36 districts and counties in Chongqing during January 2018 and November 2019 ...
YANG Yuan   +4 more
doaj   +1 more source

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