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]
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
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
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
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
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
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]
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
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
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
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

